MP:0000001 mammalian phenotype the observable morphological, physiological, behavioral and other characteristics of mammalian organisms that are manifested through development and lifespan MP:0000002 obsolete Morphology OBSOLETE. MP:0000003 abnormal adipose tissue morphology any structural anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue MP:0000005 increased brown adipose tissue amount increased amount of the thermogenic form of adipose tissue that is composed of brown adipocytes MP:0000008 increased white adipose tissue amount increased quantity of fat-storing cells/tissue MP:0000010 abnormal abdominal fat pad morphology any structural anomaly of the encapsulated adipose tissue in the abdomen MP:0000012 obsolete loss of subcutaneous adipose tissue OBSOLETE. reduction in amount or absence of adipose tissue beneath the skin MP:0000013 abnormal adipose tissue distribution alterations in the normal placement of body fat MP:0000015 abnormal ear pigmentation anomaly in the coloration of the skin of the outer ear due to changes in the amount, shape, or distribution of cells producing pigment MP:0000017 big ears outer ears of a greater than normal size MP:0000018 small ears outer ears of a smaller than normal size MP:0000019 thick ears increased width of the epidermal and cartilaginous tissue that makes up the ear MP:0000020 scaly ears loss of the outer layer of the epidermis of the ears in thick, dry scale-like patches MP:0000021 prominent ears protuberant outer ears MP:0000022 abnormal ear shape any anomaly in the characteristic surface outline or contour of the external ear MP:0000023 abnormal ear position anomaly in the space between or the placement of the outer ears MP:0000024 lowered ear position outer ears are situated below the normal location often giving the perception of protruding from the head MP:0000025 otic hypertelorism greater than normal space between the outer ears MP:0000026 abnormal inner ear morphology any structural anomaly of any components of the labyrinth, including the semicircular canals, vestibule and cochlea MP:0000027 obsolete horizontal canal defects OBSOLETE. MP:0000028 abnormal pars superior vestibularis morphology any structural anomaly in the part of the vestibular ganglion that receives fibers from the maculae of the utricle and the sacculae and the ampullae of the anterior and lateral semicircular ducts MP:0000029 abnormal malleus morphology any structural anomaly of the largest of the three auditory ossicles, which resembles a club or hammer MP:0000030 abnormal tympanic ring morphology any structural anomaly of the bony ring at the ear canal to which the tympanic membrane is attached MP:0000031 abnormal cochlea morphology any structural anomaly of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound MP:0000032 cochlear degeneration a retrogressive impairment of function or destruction of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound MP:0000033 absent scala media missing spiral tube within the cochlea that contains the organ of Corti, the neuroepithelial receptor organ for hearing MP:0000034 abnormal inner ear vestibule morphology any structural anomaly of the cavity between the semicircular canals and the cochlea of the inner ear MP:0000035 abnormal membranous labyrinth morphology any structural anomaly of the complex arrangement of communicating canaliculi and sacs suspended within the cavity of the bony labyrinth of the inner ear MP:0000036 absent semicircular canals missing organ of balance; consists of three bony tubes within which the semicircular ducts are located MP:0000037 abnormal lateral semicircular canal morphology any structural anomaly of the lateral long bony tube of the labyrinth that is involved in the sense of balance MP:0000038 obsolete thin semicircular canals OBSOLETE. decreased diameter of the three long bony tubes of the labyrinth that are involved in the sense of balance MP:0000039 abnormal otic capsule morphology any structural anomaly of the cartilage or bony capsule surrounding the inner ear mechanism MP:0000040 absent middle ear ossicles missing small bones of the tympanic cavity MP:0000041 absent endolymphatic duct missing small membranous canal of the inner ear; connecting membranous labyrinth with the endolymphatic sac MP:0000042 abnormal organ of Corti morphology any structural anomaly associated with the highly specialized epithelium in the floor of the ductus cochlearis; also referred to a spiral organ (organum spirale), or acoustic papilla MP:0000043 organ of Corti degeneration a retrogressive impairment of function or destruction of all or part the highly specialized epithelium in the floor of the ductus cochlearis MP:0000044 absent organ of Corti absence of the highly specialized epithelium in the floor of the ductus cochlearis MP:0000045 abnormal hair cell morphology any structural anomaly of the sensory epithelial cells of the inner ear MP:0000046 abnormal sulcus ampullaris morphology any structural anomaly of the transverse groove on the membranous amupulla of each semicircular duct, where the nerve enters the ampullary crest MP:0000047 obsolete abnormal interdental cells OBSOLETE. MP:0000048 abnormal stria vascularis morphology any structural anomaly in the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph; stria vascularis normally consists of marginal, intermediate, and basal cells: basal and marginal cell tight junctions preclude paracellular diffusion into and out of the intrastrial space while basal and intermediate cells secrete into this space potassium ions derived from fibrocytes through gap junctions MP:0000049 abnormal middle ear morphology any structural anomaly of any components of the tympanic cavity or its ossicles MP:0000051 obsolete absent process brevus OBSOLETE. MP:0000052 early ear unfolding early onset of the opening and spreading out of the outer ear MP:0000053 excessive ear growth overly robust development of the ear MP:0000054 delayed ear emergence late onset of the growth of the outer ear MP:0000060 delayed bone ossification late onset of the formation of bone MP:0000061 fragile skeleton easily damaged or broken bones MP:0000062 increased bone mineral density increase in the quatitative measurment value of mineral content of bone; BMD is used as an indicator of bone strength used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size MP:0000063 decreased bone mineral density reduction in the quatitative measurment value of mineral content of bone; BMD is used as an indicator of bone strength used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size MP:0000064 failure of bone resorption inability to degrade the organic and inorganic phases of bone by absorption, usually by the abnormal function or by absence of osteoclasts MP:0000065 abnormal bone marrow cavity morphology any structural anomaly of the medullary cavities of the bones MP:0000066 osteoporosis reduction in bone mass or atrophy of skeletal tissue; may lead to skeletal fragility MP:0000067 osteopetrosis excessive formation of dense trabecular bone and excessive calcified cartilage formation; may lead to anemia and extramedullary hematopoiesis MP:0000069 kyphoscoliosis kyphosis combined with scoliosis MP:0000071 axial skeleton hypoplasia decrease in the number of normal cells in normal arrangement in the axial skeleton, typically resulting in decreased size MP:0000073 absent craniofacial bones missing skeletal elements comprising the cranium and face MP:0000074 abnormal neurocranium morphology any structural anomaly of the bones of the skull enclosing the brain MP:0000075 absent neurocranium missing bones of the skull enclosing the brain MP:0000077 abnormal interparietal bone morphology any structural anomaly of the bone of the cranium that lies above and anterior to the occipital bone in some mammals MP:0000078 abnormal supraoccipital bone morphology any structural anomaly of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young MP:0000079 abnormal basioccipital bone morphology any structural anomaly of the basilar process of the occipital bone in the base of the cranium, frequently forming a direct part of the occipital in the adult, but usually distinct in the young MP:0000080 abnormal exoccipital bone morphology any structural anomaly of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young MP:0000081 premature cranial suture closure early closure of one or more of the joints (sutures) between the bones of the skull; can cause alterations in head shape, facial features, brain growth and, in rare cases, damage to the brain due to increased pressure inside the skull MP:0000082 overlapping parietal bones parietal bones of the skull partly coincide instead of articulating MP:0000083 obsolete ectopic cranial bone growth OBSOLETE. growth of extra bony structures in or near the cranium MP:0000084 abnormal fontanelle morphology any structural anomaly in the membranous interval at the margins of cranial bones in neonates MP:0000085 large anterior fontanelle enlarged diamond-shaped membranous interval at the junction of the coronal, sagittal and metopic sutures of the cranium MP:0000087 absent mandible missing the lower bony framework of the mouth where the inferior teeth are held MP:0000088 short mandible reduced length of the lower bony framework of the mouth where the inferior teeth are held MP:0000090 absent premaxilla missing anterior and interior portion of the maxilla MP:0000091 short premaxilla length reduction or truncation of the anterior and interior portion of the maxilla MP:0000094 absent alveolar process missing projecting ridge on the inferior surface of the body of the maxilla and mandible containing the tooth sockets MP:0000097 short maxilla reduced length of the upper jaw bone MP:0000098 abnormal vomer bone morphology any structural anomaly of the triangular flat bone of the nasal septum MP:0000099 absent vomer bone missing triangular flat bone of the nasal septum MP:0000100 abnormal ethmoid bone morphology any structural anomaly of the single midline facial bone that separates the nasal cavity from the brain, located at the roof of the nose between the two orbits; it is cubical in shape, relatively lightweight because of its spongy construction, and contributes to the anterior cranial fossa MP:0000101 absent ethmoid bone missing the single midline facial bone that separates the nasal cavity from the brain, located at the roof of the nose between the two orbits; it is cubical in shape, relatively lightweight because of its spongy construction, and contributes to the anterior cranial fossa MP:0000102 abnormal nasal bone morphology any structural anomaly of either of two rectangular bone plates forming the bridge of the nose MP:0000103 nasal bone hypoplasia decrease in the number of normal cells in normal arrangement in the nasal bone, typically resulting in decreased size MP:0000104 abnormal sphenoid bone morphology any structural anomaly of the irregularly shaped bone of the base of the skull MP:0000105 impaired ossification of basisphenoid bone anomaly in the formation of the bone at the base of the sphenoid bone; arises from an ossification center independent of the remainder of the sphenoid bone MP:0000106 abnormal basisphenoid bone morphology any structural anomaly of part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone MP:0000107 abnormal frontal bone morphology any structural anomaly of the single bone forming the forehead and roof of the eye orbit MP:0000108 midline facial cleft incomplete merging or fusion of the tissues (e.g. the two globular processes) along the facial midline that normally unite to form the face MP:0000109 abnormal parietal bone morphology any structural anomaly of either of a pair of membranous bones of the roof of the skull located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium MP:0000111 cleft palate congenital fissure of the tissues normally uniting to form the palate MP:0000114 cleft chin incomplete fusion of the chin; usually a fissure MP:0000116 abnormal tooth development any anomaly in the formation of the teeth MP:0000117 absent tooth placode missing the local thickening that is normally formed within the primary dental lamina and grows into a solid epithelial tooth bud that invades the underlying mesenchyme; the placodes consist of thickened epithelium and underlying neural crest derived mesenchyme, and they function as the first signaling centers of the tooth MP:0000118 arrest of tooth development failure of differentiation of the teeth MP:0000119 abnormal tooth eruption any anomaly in the developmental process in which a tooth moves in an axial and occlusal direction from its developmental position within the alveolar crypt in the jaw to its final functional position in the occlusal plane MP:0000120 malocclusion perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth MP:0000121 failure of tooth eruption inability of the teeth to grow into the oral cavity MP:0000122 premature tooth eruption early onset of the growth of the teeth out of the gums MP:0000124 obsolete absent teeth OBSOLETE. absence of some or all of the bony structures of the upper and lower jaws used in mastication MP:0000125 absent incisors absence of the pairs of long teeth that are the most anterior and prominent in the jaw MP:0000126 brittle teeth fragile and likely to break teeth MP:0000127 degenerate molars deterioration or loss over time of the molars MP:0000128 growth retardation of molars developmental delay of the growth of the molars MP:0000129 ameloblast degeneration a retrogressive impairment of function or destruction of the epithelial cells of the inner later of the enamel organ of the developing tooth MP:0000130 abnormal trabecular bone morphology any structural anomaly of bone that has a lattice-like or spongy structure; it is highly vascular and contains intercommunicating spaces filled with bone marrow MP:0000131 abnormal long bone epiphysis morphology any structural anomaly of the rounded end of a long bone MP:0000132 thickened long bone epiphysis wider than normal rounded end of a long bone MP:0000133 abnormal long bone metaphysis morphology any structural anomaly of the conical section of bone between the epiphysis and diaphysis of the long bones; this section grows during childhood and juvenile stages and is completely ossified in adults MP:0000134 abnormal compact bone thickness reduced or increased width of the superficial layer of compact bone MP:0000135 decreased compact bone thickness thinner than normal superficial layer of compact bone MP:0000136 abnormal microglial cell morphology any structural anomaly of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system; microglia are scavengers, engulfing dead cells and other debris, and in Alzheimer's disease, microglia are found associated with dying nerve cells and amyloid plaques MP:0000137 abnormal vertebrae morphology any structural anomaly of the bony segments of the spinal column MP:0000138 absent vertebrae missing all of the bony segments of the spinal column MP:0000139 absent vertebral transverse processes loss of the bony protrusions on either side of the arch of a vertebrae at the point where the lamina joins the pedicle, between the superior and inferior articular processes; muscles and ligaments attach to these processes MP:0000140 absent vertebral pedicles loss of the two short, thick processes, which project backward, one on either side, from the upper part of the body to the laminae MP:0000141 abnormal vertebral body morphology any structural anomaly of the main cylindrical portion of the vertebra ventral to the vertebral canal MP:0000142 obsolete An Extra Piece of Bone Rostral to C1 OBSOLETE. MP:0000143 obsolete Broadening/Splitting of the Neural Arch of C2 OBSOLETE. MP:0000148 obsolete abnormal shoulder/ pelvic girdle morphology OBSOLETE. any structural anomaly of the bones of the shoulder or of the bones of the pelvis by which the limbs attach to the axial skeleton MP:0000149 abnormal scapula morphology any structural anomaly of either or both of the large, flat bones of the back part of the shoulder MP:0000150 abnormal rib morphology any structural anomaly of the bones forming the bony wall of the chest MP:0000151 absent ribs absence of all the pairs of bony structures that make up the body wall MP:0000152 absent proximal rib missing part of rib structures near the spine, ribs do not contact vertebrae MP:0000153 rib bifurcation forking or division of ribs, may be a result of partial rib fusions MP:0000154 rib fusion appearance of one or more ribs as a single structure MP:0000155 asymmetric rib joints loss of bilateral symmetry in rib attachments to the vertebral column or to the sternum MP:0000156 obsolete Presence of 6 Vertebrosternal Ribs instead of 7 OBSOLETE. MP:0000157 abnormal sternum morphology any structural anomaly of the long flat bone of the chest that articulates with clavicle and first seven rib pairs; from rostral to caudal positions, the sternum consists of three parts: manubrium, body, and xiphoid process MP:0000158 absent sternum missing long flat bone of the chest; articulates with clavicle and first seven rib pairs MP:0000159 abnormal xiphoid process morphology any structural anomaly of the caudal tip of the sternum MP:0000160 kyphosis forward curvature of the spine, characterized by extensive flexion MP:0000161 scoliosis lateral and rotational curvature of the spine MP:0000162 lordosis anteriorly convex curvature of the spine MP:0000163 abnormal cartilage morphology any structural anomaly of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life MP:0000164 abnormal cartilage development anomaly in the formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life MP:0000165 abnormal long bone hypertrophic chondrocyte zone anomaly of the layer of the epiphyseal plate of a long bone where chondrocytes mature and enlarge MP:0000166 abnormal chondrocyte morphology any structural anomaly of a polymorphic cell that forms cartilage MP:0000167 decreased chondrocyte number fewer than normal numbers of polymorphic cells that form cartilage MP:0000168 abnormal bone marrow development anomaly in the formation of the soft, pulpy tissue filling the medullary cavities of bones MP:0000172 abnormal bone marrow cell number increased or decreased number of cells that make up the core cavities of bones when compared to controls MP:0000175 absent bone marrow cell lack of all cells that make up the core cavities of bones MP:0000176 obsolete bone marrow occupied by adipocytes OBSOLETE. anomalous appearance of fat-forming cells in the bone marrow MP:0000180 abnormal circulating cholesterol level anomaly in the amount in the blood of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MP:0000181 abnormal circulating LDL cholesterol level any anomaly in the amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions MP:0000182 increased circulating LDL cholesterol level greater amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions MP:0000183 decreased circulating LDL cholesterol level reduced amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions MP:0000184 abnormal circulating HDL cholesterol level any anomaly in the amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion MP:0000186 decreased circulating HDL cholesterol level reduced amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion MP:0000187 abnormal triglyceride level any anomaly in the concentration of triglyceride, a glycerol esterified at each of its three hydroxyl groups by a fatty acid; triglyceride is an important molecule for storage of fatty acids in adipose tissue MP:0000188 abnormal circulating glucose level any anomaly in the concentration in the blood of the major monosaccharide of the body MP:0000189 hypoglycemia low levels of plasma glucose in the circulating blood; this generally refers to a pathological state MP:0000192 abnormal mineral level any anomaly in the concentration of any inorganic substance that has importance in body functions MP:0000194 increased circulating calcium level abnormally high concentration of calcium ions in the circulating blood MP:0000195 decreased circulating calcium level subnormal concentrations of calcium ions in the circulating blood MP:0000198 decreased circulating phosphate level abnormally low concentrations of phosphates in the circulating blood MP:0000199 abnormal circulating serum albumin level anomaly in the blood level of the major blood protein that is important in maintaining the colloidal osmotic pressure, fatty acid transport and transporting large organic molecules MP:0000202 abnormal circulating alkaline phosphatase level any anomaly in the concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters; low levels are seen in cases of hypophosphatasia MP:0000203 abnormal circulating aspartate transaminase level any anomaly in the concentration in the blood of the enzyme which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid MP:0000208 decreased hematocrit less than the average percentage of a volume of a blood sample occupied by red blood cells MP:0000215 absent erythrocytes lack of mature red blood cells MP:0000216 absent erythroid progenitor cell lack of progenitors of the erythrocyte lineage MP:0000217 abnormal leukocyte cell number any anomaly in the number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue MP:0000218 increased leukocyte cell number greater than normal number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue MP:0000219 increased neutrophil cell number greater than normal number of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes MP:0000220 increased monocyte cell number greater count of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood MP:0000221 decreased leukocyte cell number reduction in the number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue MP:0000222 decreased neutrophil cell number reduced count of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes MP:0000223 decreased monocyte cell number reduced count of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood MP:0000226 abnormal mean corpuscular volume deviation from normal for the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices MP:0000228 abnormal thrombopoiesis abnormal development of the non-nucleated cells of the blood (platelets, thrombocytes) involved in blood coagulation MP:0000229 abnormal megakaryocyte differentiation atypical production of or inability to produce the giant 50 to 100 micron diameter cells with greatly lobulated nuclei found in the bone marrow; mature blood platelets are released from their cytoplasm MP:0000230 abnormal systemic arterial blood pressure altered tension of the blood within the systemic arteries MP:0000231 hypertension sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states MP:0000233 abnormal blood flow velocity any anomaly in the rate of flow of the blood through vessels MP:0000237 obsolete decreased blood cell number OBSOLETE. fewer than the normal numbers of the various types of blood cells MP:0000238 absent pre-B cells absence of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface MP:0000239 absent common myeloid progenitor cells lack of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages MP:0000240 extramedullary hematopoiesis formation and development of blood cells outside the bone marrow, e.g., in the spleen, liver, or lymph nodes MP:0000242 impaired fertilization defect or reduced ability in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei MP:0000243 myoclonus involuntary shock-like contractions, variable in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles; generally due to a central nervous system lesion MP:0000245 abnormal erythropoiesis atypical process of the formation of enucleated fetal and adult erythrocytes MP:0000247 obsolete abnormal interleukin-10 physiology OBSOLETE. functional anomaly of this factor that is a co-regulator of mast cell growth and produced by T and B cells MP:0000248 macrocytosis condition in which erythrocytes are larger than normal in size MP:0000249 abnormal blood vessel physiology any functional anomaly of any of the tubes that convey blood including the arteries, arterioles, capillaries, venules, and veins MP:0000250 abnormal vasoconstriction anomaly in the narrowing of the blood vessels by smooth muscle contraction MP:0000255 blood vessel congestion obstruction of the normal flux of blood within the blood vessel network MP:0000256 echinocytosis a state in which the red blood cells have multiple small projections appearing over the cell circumference resembling a small burr or a sea urchin MP:0000259 abnormal vascular development aberrant process of vascular formation MP:0000260 abnormal angiogenesis aberrant process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network MP:0000262 poor arterial differentiation failure of or inadequate acquisition of the characteristics and/or functions of the arteries MP:0000263 absent organized vascular network formation of vasculature, but failure to differentiate into stereotypic organized pattern MP:0000264 failure of vascular branching failure of vasculature to form divisions (offshoots) MP:0000265 blood vessel atresia abnormal closure or absence of the lumen of one or more blood vessels MP:0000266 abnormal heart morphology any structural anomaly of the hollow, muscular organ that maintains the circulation of the blood MP:0000267 abnormal heart development aberrant formation or incomplete differentiation of the heart MP:0000268 obsolete abnormal anterior cardiac development OBSOLETE. MP:0000269 abnormal heart looping any anomaly in the characteristic morphogenetic movements where the primitive heart tube loops asymmetrically during early development; this looping brings the primitive heart chambers into alignment preceding their future integration MP:0000270 abnormal heart tube morphology any structural anomaly of the primitive epithelial cardiac tube before the division into the chambers of the mature heart MP:0000272 abnormal aorta morphology any structural anomaly of the main trunk of the systemic arterial system that originates from the base of the left ventricle of the heart and extends to the abdomen at the point where it branches into the common iliac arteries MP:0000273 overriding aortic valve congenitally abnormal position of the aorta where the valve origin straddles the ventral septum and so receives ejected blood from the right ventricle as well as the left, frequently in conjunction with a ventricular septal defect MP:0000274 enlarged heart increase over normal size of the heart MP:0000275 heart hyperplasia increase in the number of normal cells in normal arrangement in the heart, typically resulting in increased size MP:0000276 heart right ventricle hypertrophy enlargement of heart right ventricular wall from the increase in size of its cells MP:0000277 abnormal heart shape any anomaly in the characteristic surface outline or contour of the heart MP:0000278 abnormal myocardial fiber morphology any structural anomaly of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart MP:0000279 ventricular hypoplasia decrease in the number of normal cells in normal arrangement in the heart ventricle, typically resulting in decreased size MP:0000280 thin ventricular wall decreased depth of the cardiac wall of the heart ventricles MP:0000281 abnormal interventricular septum morphology any structural anomaly of the wall between the two lower chambers of the heart; the ventricular septum consists of a very small membranous portion just beneath the aortic valve, and a large thick muscular portion consisting of three sections including the inlet septum, the trabecular septum, and the outlet septum MP:0000282 abnormal interatrial septum morphology any structural anomaly of the thin membranous structure between the two heart atria MP:0000284 double outlet right ventricle both the aorta and the pulmonary trunk originate, either in whole or in part, from the right ventricle; often found in conjunction with a ventricular septal defect MP:0000285 abnormal heart valve morphology any structural anomaly of the membranous folds of the heart that prevent reflux of fluid MP:0000286 abnormal mitral valve morphology any structural anomaly of the valve that is located between the left atrium and the left ventricle of the heart, and contains two cusps, the anterior cusp and the posterior cusp, attached to the outer fibrous ring (annulus) MP:0000287 heart valve hypoplasia decrease in the number of normal cells in normal arrangement in any of the heart valves, typically resulting in decreased size MP:0000288 abnormal pericardium morphology any structural anomaly of the fibroserous membrane covering the heart and beginning of the great vessels MP:0000291 enlarged pericardium extended fibroserous membrane covering the heart and beginning of the great vessels MP:0000292 distended pericardium an expansion in the volume of the sac-like structure contained by the outer parietal layer of the pericardium MP:0000293 absent myocardial trabeculae absence of the supporting bundles of muscular fibers lining the walls of the heart MP:0000295 trabecula carnea hypoplasia decrease in the number of normal cells in normal arrangement in the supporting bundles of muscular fibers lining the walls of the ventricles of the heart, typically resulting in decreased size MP:0000296 absent trabeculae carneae missing supporting bundles of muscular fibers lining the walls of the ventricles of the heart MP:0000297 abnormal atrioventricular cushion morphology any structural anomaly of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices and the atrioventricular septum MP:0000298 absent atrioventricular cushions absence of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal MP:0000299 failure of atrioventricular cushion closure failure of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal to fuse to form the valves between the right and left atrioventricular orifices MP:0000300 thin atrioventricular cushion reduced thickness of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal MP:0000301 decreased atrioventricular cushion size smaller than normal mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal MP:0000304 abnormal cardiac stroke volume anomaly in the volume of blood pushed into the aorta with each beat of the heart MP:0000306 obsolete abnormal pulse OBSOLETE. MP:0000307 obsolete abnormal heart sounds OBSOLETE. MP:0000313 abnormal cell death any anomaly in the cessation of function at the cellular level MP:0000314 schistocytosis the appearance of poikilocytes in the blood that owe their abnormal shape to fragmentation occurring as the cells flow through damaged small vessels MP:0000315 hemoglobinuria the presence of hemoglobin in the urine, including certain closely related pigments that are formed from slight alteration of the hemoglobin molecule MP:0000316 cellular necrosis pathologic death of cells, usually from irreversible damage MP:0000317 obsolete abnormal cell number OBSOLETE. any anomaly in the numbers of cells MP:0000318 obsolete increased cell number OBSOLETE. greater than expected number of cells MP:0000319 obsolete increased activated B cell number OBSOLETE. MP:0000321 increased bone marrow cell number increased number of cells that make up the core cavities of bones when compared to the normal state MP:0000322 increased granulocyte number greater than expected number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils MP:0000324 increased mast cell number greater than expected number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation MP:0000327 hemosiderinuria the presence of hemosiderin in the urine; hemosiderin is an intracellular storage form of iron, found in the form of pigmented yellow to brown granules consisting of a complex of ferric hydroxides, polysaccharides, and proteins with an iron content of about 33 per cent by weight MP:0000328 increased enterocyte cell number greater than expected number of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen MP:0000329 obsolete decreased cell number OBSOLETE. fewer than expected number of cells MP:0000330 obsolete decreased activated B cell number OBSOLETE. MP:0000332 hemoglobinemia the presence of free hemoglobin in the blood plasma, an indication of significant intravascular hemolysis MP:0000333 decreased bone marrow cell number decreased number of cells that make up the core cavities of bones when compared to the normal state MP:0000334 decreased granulocyte number fewer than expected number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils MP:0000336 decreased mast cell number fewer than expected number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation MP:0000339 decreased enterocyte cell number fewer than expected number of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen MP:0000340 obsolete absence of cell OBSOLETE. MP:0000341 abnormal bile color any change in the color of the bile from the normal yellowish brown or green MP:0000343 abnormal response to cardiac infarction change in the physiological response to necrosis of the cardiac tissue, often resulting from the sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors MP:0000344 absent Cajal-Retzius cell the absence of a distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus MP:0000346 broad head a greater ear- to -ear distance resulting in the appearance of a wide face and a flattened snout MP:0000348 abnormal aerobic fitness any change in the metabolism resulting in an altered ability to do physical work; for example, alterations in running capacity MP:0000350 abnormal cell proliferation anomaly in the ability of a cell population to undergo expansion by cell division MP:0000351 increased cell proliferation increase in the expansion rate of a cell population by cell division MP:0000352 decreased cell proliferation reduction in the expansion rate of a cell population by cell division MP:0000353 obsolete Abnormal Cell Size OBSOLETE. MP:0000354 obsolete Increased Cell Size OBSOLETE. MP:0000355 obsolete Increased Purkinje Cell Size OBSOLETE. MP:0000356 obsolete Decreased Cell Size OBSOLETE. MP:0000357 obsolete Decreased Purkinje Cell Size OBSOLETE. MP:0000358 abnormal cell morphology any structural anomaly of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms MP:0000359 abnormal mast cell morphology any structural anomaly of a cell that is found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation MP:0000360 obsolete absent metachromatic granules OBSOLETE. lack of intracellular storage compartments that stain a different color than that of the dye used MP:0000361 decreased mast cell protease storage reduced amounts of proteolytic enzymes stored in mast cells MP:0000362 decreased mast cell histamine storage reduced amounts of histamine stored in mast cells MP:0000363 obsolete Abnormal Cell Behavior OBSOLETE. MP:0000364 abnormal vascular regression premature regression or persistence of vessels programmed to regress and/or loss of vessels not programmed to regress MP:0000365 obsolete Abnormal Hematopoietic/Hemopoietic/ Hematogenic/Hemogenic/Sanguifacient Cell Behavior OBSOLETE. MP:0000366 obsolete Impaired Proliferative Response of Hematopoietic Cells to Mitogens OBSOLETE. MP:0000367 abnormal coat/ hair morphology any anomaly in the color, structure, growth, or texture of the hair MP:0000370 head blaze the appearance of a stripe of white fur on the head MP:0000371 diluted coat color a coat color that appears lighter in intensity or paler than normal MP:0000372 irregular coat pigmentation uneven coloration of the hair MP:0000373 belly spot the appearance of a round area of white fur on the belly MP:0000374 obsolete pink fur hue OBSOLETE. hairs have a prominent pink tinge MP:0000376 folliculitis inflammatory reaction in hair follicles MP:0000377 abnormal hair follicle morphology any structural anomaly of the invagination of the epidermis from which the hair shaft develops MP:0000378 absent hair follicles missing epidermal invaginations from which the hair shaft develops MP:0000379 decreased hair follicle number fewer number of the epidermal invaginations from which the hair shaft develops MP:0000380 small hair follicles reduced size of the invagination of the epidermis from which the hair shaft develops MP:0000381 enlarged hair follicles increased size of the epidermal invaginations from which the hair shaft develops MP:0000382 underdeveloped hair follicles arrest of or retarded differentiation of the epidermal invaginations from which the hair shaft develops MP:0000383 abnormal hair follicle orientation misaligned hair follicles; hair follicles that do not orient in a typical pattern MP:0000384 distorted hair follicle pattern twisted or contorted configuration of the arrangement of hair follicles in the skin MP:0000385 distended hair follicles follicles that have swollen or expanded from the skin MP:0000386 obsolete abnormal hair follicle root sheath OBSOLETE. anomalies of the epidermal-derived layer surrounding the hair follicle; innermost of two layers MP:0000387 disorganized inner root sheath cells disorganization of the epithelial cells that resides in the inner root sheath of the hair follicle MP:0000388 absent hair follicle inner root sheath absence of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer and the inner root sheath cuticle MP:0000389 disorganized outer root sheath cells disordered enveloping layer of cells of the hair follicle; surrounds inner root and is continuous with basal and spinous layers of the epidermis MP:0000390 disorganized matrix sheath cells disordered layer of matrix cells of the hair follicle MP:0000391 premature hair follicle generation early onset of hair follicle development MP:0000392 accelerated hair follicle regression earlier onset of catagen phase during the cyclic transformation of the hair follicle MP:0000393 persistent hair follicle morphogenesis continuous induction of de novo hair follicles in the epidermis MP:0000394 absent hair follicle melanin granules absence of the pigment polymers located in the hair follicles MP:0000395 obsolete abnormal hair types OBSOLETE. any structural anomaly of the different subsets of types of hairs or change to the expected complement of different hair types MP:0000396 increased curvature of hairs greater bending arch of the distinct C- or S- shaped curvature of the hairs MP:0000397 abnormal guard hair morphology any structural anomaly of the long, straight truncal hairs that contain two air cells in the medulla MP:0000398 splitting of guard hairs intercellular splits and kinks within or along the hair shaft of the long, straight truncal hairs that contain two air cells in the medulla MP:0000399 increased curvature of guard hairs greater bending arch of the guard hairs MP:0000400 abnormal awl hair morphology any structural anomaly of truncal hairs that are straight, but are shorter than guard hairs, and contain two or more air cells in the medulla MP:0000401 increased curvature of awl hairs greater bending arch of the awl hairs MP:0000402 abnormal zigzag hair morphology any structural anomaly or amount of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla MP:0000403 increased curvature of zigzag hairs greater bending arch of the zigzag hairs MP:0000404 decreased curvature of zigzag hairs smaller bending arch of the zigzag hairs MP:0000405 abnormal auchene hair morphology any structural anomaly of truncal hairs having a single constriction and bend about midway along the hair shaft, and contain two or more air cells in the medulla MP:0000406 increased curvature of auchene hairs greater bending arch of the auchene hairs MP:0000407 abnormal duvet hair morphology any structural anomaly of the fine under hair of the coat MP:0000408 absent duvet hair absence of the of the fine under hair of the coat MP:0000410 waved hair hair or fur having undulations or a sinusoidal shape MP:0000411 shiny fur fur with a glossy or glistening appearance MP:0000412 excessive hair greater amount of body hair compared to controls MP:0000413 polyphalangy increased number of phalanges in any of the digits MP:0000414 alopecia absence of hair due to loss of hair; not in reference to primary genetic hairlessness but may be due to dietary, stress or secondary to immune condition MP:0000416 sparse hair body hair that is less dense; may be due to reduced follicle numbers or due to the inability to retain some of the hairs of the coat over time MP:0000417 short hair reduced average length of the hairs MP:0000418 focal hair loss focal absence of hair in areas where hair is normally expected; in rodents, often appearing behind the ears and on the tail, resulting in visible patches of skin and uneven spots of hair growth on the body MP:0000419 obsolete rough hair OBSOLETE. greasy, matted appearance of the fur MP:0000420 ruffled hair fuzzy, irregular appearance of the hair MP:0000421 mottled coat coat has spots, streaks, and/or blotches of a different color MP:0000422 delayed hair appearance late onset of the first appearance of the fur MP:0000423 delayed hair regrowth slow initiation and asynchrony of the hair growth cycle (anagen) after catagen phase MP:0000424 retarded hair growth slow growth of the hair, appears at normal time MP:0000425 loss of eyelid cilia inability to retain the eyelashes MP:0000426 ectopic hair growth positional abnormality of hair MP:0000427 abnormal hair cycle aberrant timing of growth and regression of the hair follicles MP:0000428 abnormal craniofacial morphology any structural anomaly of the face or head affecting appearance MP:0000430 absent maxillary shelf missing bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate MP:0000431 absent palatine bone horizontal plate missing bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate MP:0000432 abnormal head morphology any structural anomaly of the portion of the body containing the brain and organs of sight, hearing, taste, and smell MP:0000433 microcephaly an abnormally small head MP:0000434 megacephaly an abnormally large size of the head MP:0000435 shortened head reduced anterior-posterior length of the head MP:0000436 abnormal head movements any anomaly in the motion of the portion of the body containing the brain and organs of sight, hearing, taste, and smell MP:0000437 taut facial appearance skin of face has appearance of being drawn or pulled tightly MP:0000438 abnormal cranium morphology any structural anomaly of the bones of the head MP:0000439 enlarged cranium increased size of the cranium MP:0000440 domed cranium increased curvature to the hemispherical shape of the upper cranial case MP:0000441 increased cranium width having an increased side-to-side, or lateral distance of the cranium MP:0000443 abnormal snout morphology any structural anomaly of the anterior facial part of the face or muzzle containing the oral and nasal regions MP:0000445 short snout reduced length of the anterior facial part of the muzzle MP:0000446 long snout the anterior facial part of the muzzle having a length greater than seen in controls MP:0000447 flattened snout a snout flattened laterally along the whole length without the appearance of distinctive curvature MP:0000448 pointed snout muzzle tapers to a small tip, sharper angle than wild type MP:0000449 broad nasal bridge wider than normal upper part of the ridge of the nose MP:0000450 absent snout absence of the anterior facial part of the face or muzzle containing the oral and nasal regions MP:0000451 scaly muzzle loss of the outer layer of the epidermis of the muzzle in thick, dry scale-like patches MP:0000452 abnormal mouth morphology any structural anomaly of the proximal portion of the digestive tract containing the oral cavity and bounded by the oral opening MP:0000453 absent mouth congenital absence of the mouth MP:0000454 abnormal jaw morphology any structural anomaly of the bony framework of the mouth where the teeth are held MP:0000455 abnormal maxilla morphology any structural anomaly of the upper bony framework of the mouth where the superior teeth are held MP:0000457 maxilla hypoplasia decrease in the number of normal cells in normal arrangement in the maxilla, typically resulting in decreased size MP:0000458 abnormal mandible morphology any structural anomaly of the lower bony framework of the mouth where the inferior teeth are held MP:0000459 abnormal presacral vertebrae morphology any structural anomaly of the vertebrae anterior to the sacrum MP:0000460 mandible hypoplasia decrease in the number of normal cells in normal arrangement in the mandible, typically resulting in decreased size MP:0000461 decreased presacral vertebrae number reduced number of the vertebrae anterior to the sacrum MP:0000462 abnormal digestive system morphology any structural anomaly of the system dedicated to the mechanical, chemical, and enzymatic processing of food MP:0000464 increased presacral vertebrae number greater number of the vertebrae anterior to the sacrum MP:0000465 gastrointestinal hemorrhage bleeding in the stomach and/or the intestines MP:0000466 esophageal epithelium hyperplasia increase in the number of normal cells in normal arrangement in the esophageal epithelium, typically resulting in increased size MP:0000467 abnormal esophagus morphology any structural anomaly of the part of the digestive canal through which food passes from the pharynx to the stomach MP:0000468 abnormal esophageal epithelium morphology any structural anomaly of the epithelial layer that lines the luminal space of the esophagus MP:0000469 abnormal esophageal squamous epithelium morphology any structural anomaly of the scaly epithelial layer of the esophagus MP:0000470 abnormal stomach morphology any structural anomaly of the hollow, sac-like structure of the digestive canal between the esophagus and the small intestine that functions to emulsify food MP:0000471 abnormal stomach epithelium morphology any structural anomaly of the epithelial layer of the stomach MP:0000472 abnormal stomach non-glandular epithelium morphology any structural anomaly of the squamous epithelium that lines the distinct rodent non-glandular region of the stomach, i.e. the forestomach (aka anterior or proximal stomach); in neonatal and adult mice, this epithelium is stratified, fully keratinized, and devoid of gastric glands MP:0000473 abnormal stomach glandular epithelium morphology any structural anomaly of the gland-containing epithelial layer of the stomach MP:0000474 abnormal foregut morphology any structural anomaly of the anterior portion of the primitive digestive tube of the embryo that lies cephalic to the junction of the yolk stalk, consists of endodermal tissue, and gives rise to the pharynx, lower respiratory system, esophagus, stomach, duodenum proximal to the biliary tract, liver, pancreas, biliary tract, and gall bladder MP:0000476 obsolete thickening of bowel wall OBSOLETE. MP:0000477 abnormal intestine morphology any structural anomaly of the digestive tube passing from the stomach to the anus, consisting of the small and large intestine divisions MP:0000478 delayed intestine development slowed progression to a structurally mature intestine MP:0000479 abnormal enterocyte morphology any structural anomaly of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen MP:0000480 increased rib number greater than normal numbers of the pairs of bony structures that are elements of the body wall MP:0000481 abnormal enterocyte cell number deviation from the normal numbers of enterocytes MP:0000482 long fibula increased length of the lateral and smaller of bone of the lower leg MP:0000483 obsolete Increased intestinal cell number OBSOLETE. MP:0000484 abnormal pulmonary artery morphology any structural anomaly of the artery that arises from the right ventricle and conveys unaerated blood to the lungs MP:0000485 obsolete Decreased intestinal cell number OBSOLETE. MP:0000486 abnormal pulmonary trunk morphology any structural anomaly of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery MP:0000487 absent enterocytes absence of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen MP:0000488 abnormal intestinal epithelium morphology any structural anomaly of the cellular avascular layer of the digestive tube passing from the stomach to the anus MP:0000489 abnormal large intestine morphology any structural anomaly of the portion of the digestive tube extending from the ileocecal valve to the anus, consisting of the cecum, colon, rectum and anal canal MP:0000490 abnormal crypts of Lieberkuhn morphology any structural anomaly of the tubular intestinal glands found in the mucosal membranes MP:0000491 crypts of Lieberkuhn abscesses an exudate collection associated with inflammation in the crypts of Lieberkuhn of the intestinal mucosa; often associated with ulcerative colitis MP:0000492 abnormal rectum morphology any structural anomaly of the terminal portion of the intestinal tube adjacent to the anus MP:0000493 rectal prolapse downward movement and external appearance of the rectum through the anus MP:0000494 abnormal cecum morphology any structural anomaly of the large sac at the ileum and large intestine junction MP:0000495 abnormal colon morphology any structural anomaly of the portion of the large intestine between the cecum and the rectum MP:0000496 abnormal small intestine morphology any structural anomaly of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum MP:0000497 abnormal small intestine placement different location or arrangement of the small intestinal tract MP:0000498 absent jejunum missing portion of the small intestine that extends from the duodenum to the ileum MP:0000499 absent ileum missing portion of the small intestine that extends from the jejunum to the colon MP:0000500 small intestinal prolapse the descent of the small intestine through a weakness in the supporting tissues at the apex of the vagina gives rise to an enterocele, frequently caused by a weakness or separation of the cardinal and sacro-uterine ligaments MP:0000501 abnormal digestive secretion anomaly in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system MP:0000502 obsolete abnormal digestive mucosecretion OBSOLETE. malfunctioning of the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from the mucous membrane of the digestive system MP:0000503 excessive digestive secretion increase in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system MP:0000504 obsolete excessive digestive mucosecretion increase in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from the mucous membrane of the digestive system MP:0000505 decreased digestive secretion reduction in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system MP:0000506 obsolete decreased digestive mucosecretion reduction in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from the mucous membrane of the digestive system MP:0000507 absent digestive secretion failure to produce and/or release a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system MP:0000508 right-sided isomerism anomaly in the asymmetry of the visceral paired organs (e.g. lungs) such that organs on the left and right side have the morphology normally seen on the right side of the body; this may also be associated with absence of the spleen MP:0000509 obsolete absent digestive mucosecretion failure to produce and/or release a physiologically active substance (usually but not exclusively in liquid form) from the mucous membrane of the digestive system MP:0000510 remittent intestinal hemorrhage loss of blood from the intestines that is characterized by temporary periods of abatement MP:0000511 abnormal intestinal mucosa morphology any structural anomaly of the mucous lining of the intestine; this consists of epithelium, lamina propria, and a layer of smooth muscle cells MP:0000512 intestinal ulcer lesions in the mucous lining of the intestine MP:0000513 obsolete infiltration of lymphocytes/plasma cells OBSOLETE. MP:0000516 abnormal renal/urinary system morphology any structural anomaly of any of the organs or tissues responsible for fluid volume regulation, regulating electrolytes, maintaining acid-base homeostasis, and elimination of water and water soluble waste products in an organism MP:0000519 hydronephrosis dilation of the pelvis and calices of one or both kidneys MP:0000520 absent kidney absence of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine MP:0000521 abnormal kidney cortex morphology any structural anomaly of the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration; it contains the renal corpuscles, the renal tubules (except for parts of the loop of Henle which descend into the renal medulla), blood vessels and cortical collecting ducts MP:0000522 kidney cortex cyst presence of one or more abnormal membranous sacs in the kidney cortex MP:0000523 cortical renal glomerulopathies any disease of the capillary plexus in the kidney cortex MP:0000524 decreased renal tubule number fewer of the loops of Henle, the proximal convoluted tubules or the distal convoluted tubules MP:0000525 renal tubular acidosis a clinical syndrome characterized by the inability to acidify urine MP:0000526 small inner medullary pyramid reduced size of pyramidal masses; contain part of the secreting tubules and collecting tubules MP:0000527 abnormal kidney development any anomaly in the differentiation of the paired organs responsible for urine secretion MP:0000528 delayed kidney development late onset of the induction and/or differentiation of the kidney MP:0000530 abnormal kidney vasculature morphology any structural anomaly of the network of tubes that carries blood through the organ of excretion MP:0000531 right pulmonary isomerism anomaly in the asymmetry of the lung such that the lobes on both the left and right side have the morphology normally seen on the right side of the body MP:0000532 kidney vascular congestion obstruction of the normal flux of blood within the blood vessel network of the organ of secretion MP:0000533 kidney hemorrhage bleeding in the organ of excretion MP:0000534 abnormal ureter morphology any structural anomaly of the tube that conducts the urine from the renal pelvis to the bladder MP:0000535 ureter urothelium hyperplasia increase in the number of normal cells in normal arrangement in the ureter urothelium, typically resulting in increased size MP:0000536 hydroureter distention of the ureter with urine, due to blockage from any cause MP:0000537 abnormal urethra morphology any structural anomaly of the fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening MP:0000538 abnormal urinary bladder morphology any structural anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys MP:0000539 distended urinary bladder stretched musculomembranous organ that serves to collect and store urine excreted by the kidneys MP:0000540 abnormal urinary bladder urothelium morphology any structural anomaly of the epithelial lining of the luminal space of the urinary bladder MP:0000541 obsolete abnormal urinary bladder transitional epithelium morphology any structural anomaly of the transitional epithelial layer of the urinary bladder MP:0000542 left-sided isomerism anomaly in the asymmetry of the visceral paired organs (e.g. lungs) such that organs on the left and right side have the morphology normally seen on the left side of the body; this may also be associated with the presence of multiple spleens MP:0000543 absent urinary bladder urothelium missing the transitional epithelial layer of the urinary bladder MP:0000544 thin urinary bladder urothelium decrease in the thickness of the transitional epithelial layer of the urinary bladder MP:0000545 obsolete abnormal limbs/digits/tail morphology OBSOLETE. morphological or developmental anomaly of the digits, autopod, limbs, or tail MP:0000547 short limbs reduced average length of the extremities MP:0000548 long limbs increased average length of the extremities MP:0000549 absent limbs absence of the projecting paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm and/or legs in mammalian species MP:0000550 abnormal forelimb morphology any structural anomaly of the projecting rostral-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm or front limb in mammalian species MP:0000551 absent forelimb absence of the projecting rostral-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm or front limb in mammalian species MP:0000552 abnormal radius morphology any structural anomaly of the short bone of the lateral forearm MP:0000553 absent radius missing the short bone of the lateral forearm MP:0000554 abnormal carpal bone morphology any structural anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands consisting of the scapholunar, triangular, greater multiangular, lesser multiangular, capitate, hamate, centrale and the sesamoids MP:0000555 absent carpal bone absence of any or all of the nine nodular bones of the joint between the forelimb bones and the front paws/hands, consisting of the scapholunar, triangular, greater multiangular, lesser multiangular, capitate, hamate, centrale and the sesamoids MP:0000556 abnormal hindlimb morphology any structural anomaly of the projecting caudal-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the legs or back limbs in mammalian species MP:0000557 absent hindlimb absence of the projecting caudal-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the legs or back limbs in mammalian species MP:0000558 abnormal tibia morphology any structural anomaly of the medial and larger of the two bones of the lower leg MP:0000559 abnormal femur morphology any structural anomaly of the long bone of the thigh MP:0000561 adactyly missing one or more digits, or all digits MP:0000562 polydactyly greater than the normal complement of digits on one or more autopods MP:0000564 syndactyly any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone MP:0000565 oligodactyly congenital condition in which some digits or parts of digits are missing MP:0000566 synostosis osseous union of two bones that are not normally connected MP:0000567 truncated digits absence of the most distal region of the digits MP:0000568 ectopic digits positional abnormality of a digit MP:0000569 abnormal digit pigmentation anomaly in the coloration of the fingers or toes due to changes in the amount, shape, or distribution of cells producing pigment MP:0000571 interdigital webbing fold of skin, or web, between the toes that is not normally present MP:0000572 abnormal autopod morphology any structural anomaly of the distal elements of the limb of vertebrates including the pedal or prehensile appendages (e.g. hand, foot, paw, phalanges and/or digits) MP:0000573 increased hindlimb autopod size larger than average size of the rear feet MP:0000574 abnormal foot pad morphology any structural anomaly of the body of fat on the foot MP:0000575 increased foot pad pigmentation darker color of the foot pads due to excess pigment MP:0000576 clubfoot congenital deformation of the autopods; hind or forelimb foot is plantarflexed, inverted and adducted MP:0000577 absent eccrine glands absence of the coiled tubular glands situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans MP:0000578 ulcerated autopod inflammatory, often suppurating lesions on the paws; often become necrotic MP:0000579 abnormal nail morphology any structural anomaly of any of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits MP:0000580 deformed nails atypical shape or size of the nails MP:0000581 obsolete ventral nails/ hair OBSOLETE. appearance of nails and hair on the ventral side of the paw MP:0000582 toenail hyperkeratosis keratin extensions from the toenails MP:0000583 long toenails increased length of the toenails MP:0000585 kinked tail a sharp bend or zigzag in the tail MP:0000588 thick tail a tail with a greater diameter than normal MP:0000589 thin tail a tail with a smaller diameter than normal MP:0000592 short tail reduced length of tail compared to control MP:0000593 obsolete tail band OBSOLETE. MP:0000596 abnormal liver development any anomaly in the differentiation of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage MP:0000597 delayed hepatic development late onset of the induction and/or differentiation of the liver MP:0000598 abnormal liver morphology any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage MP:0000599 enlarged liver larger than average size of the liver MP:0000600 liver hypoplasia decrease in the number of normal cells in normal arrangement in the liver, typically resulting in decreased size MP:0000601 small liver reduced size of the liver MP:0000602 dilated liver sinusoidal space the luminal space of one or more liver sinusoids is increased in volume or area MP:0000603 pale liver liver lacking normal coloration, often refers to bloodless condition MP:0000604 amyloidosis an accumulation of extracellular amyloid deposits in tissues of the body MP:0000606 decreased hepatocyte number fewer than normal number of parenchymal liver cells MP:0000607 abnormal hepatocyte morphology any structural anomaly of the main structural specialized epithelial cells which normally organize into interconnected plates called lobules MP:0000608 dissociated hepatocytes disorganization of cohesive hepatocyte structure MP:0000609 abnormal liver physiology any functional anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage MP:0000610 cholestasis impairment of bile flow due to obstruction in small bile ducts (intrahepatic cholestasis) or obstruction in large bile ducts (extrahepatic cholestasis) MP:0000611 jaundice clinical manifestation of hyperbilirubinemia, with deposition of bile pigments in the skin, resulting in yellowish staining of the skin and mucous membranes MP:0000612 obsolete sclerosis OBSOLETE. MP:0000613 abnormal salivary gland morphology any structural anomaly of the saliva-secreting glands of the oral cavity MP:0000614 absent salivary gland missing any of the saliva-secreting glands of the oral cavity MP:0000615 abnormal palatine gland morphology any structural anomaly of the salivary gland of the hard palate MP:0000616 decreased ductal branching in the palatine gland fewer branches and distal tips of the vesicles of the palatine gland MP:0000617 increased salivary gland mucosal cell number greater than normal number of cells that form mucus in the salivary glands MP:0000618 small salivary gland reduced size of the saliva-secreting glands of the oral cavity MP:0000619 salivary gland epithelial hyperplasia increase in the number of normal cells in normal arrangement in the salivary gland epithelium, typically resulting in increased size MP:0000620 narrow salivary ducts reduced diameter of the tubular canals that carry saliva MP:0000621 increased salivary adenocarcinoma incidence greater than the expected number of a malignant neoplasm of the secreting cells of the salivary gland, occurring in a specific population in a given time period MP:0000622 increased salivation greater than normal amounts of flowing saliva MP:0000623 decreased salivation reduction in the flow, secretion, or amount of saliva MP:0000624 xerostomia dryness of the mouth resulting from reduced salivary secretion MP:0000627 abnormal mammary gland morphology any structural anomaly of the compound, alveolar and apocrine accessory gland of the skin of mammals that secretes milk MP:0000628 abnormal mammary gland development aberration in the differentiation of the mammary gland during early embryogenesis or during sexual maturity MP:0000629 absent mammary gland absence of the specialized accessory gland of the skin of mammals that secretes milk MP:0000630 mammary gland hyperplasia increase in the number of normal cells in normal arrangement in the mammary gland, typically resulting in increased size MP:0000631 abnormal neuroendocrine gland morphology any structural anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli MP:0000632 abnormal pineal gland morphology any structural anomaly of the unpaired epithalamic structure that is shaped like a tiny pine cone and located above the posterior commissure near the level of the habenular complex and the sylvian aqueduct; it is both a circumventricular organ and an endocrine organ that secretes melatonin, a serotonin-derived hormone involved in the regulation of circadian rhythms; the pineal parenchyma, consisting of pinealocytes, interstitial (glial-like) cells, phagocytes and capillaries, is arranged into large folliculi separated by septae of connective tissue and blood vessels MP:0000633 abnormal pituitary gland morphology any structural anomaly of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin from the anterior lobe; melanocyte stimulating hormone from the intermediate lobe and hormones involved in blood pressure regulation from the posterior lobe MP:0000635 pituitary gland hyperplasia increase in the number of normal cells in normal arrangement in the pituitary gland, typically resulting in increased size MP:0000636 enlarged pituitary gland increased size of pituitary gland MP:0000637 obsolete abnormal merkel cells OBSOLETE. MP:0000638 obsolete hyperproliferation of merkel cells OBSOLETE. MP:0000639 abnormal adrenal gland morphology any structural anomaly of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla MP:0000640 adrenal gland hypoplasia decrease in the number of normal cells in normal arrangement in the adrenal gland, typically resulting in decreased size MP:0000642 enlarged adrenal glands increased size of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla MP:0000643 absent adrenal medulla absence of the inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine MP:0000644 dextrocardia congenital defect in which the heart is located on the right side of the thorax instead of on the left side (levocardia, the normal position) MP:0000645 absent adrenergic chromaffin cells absence of the cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion MP:0000646 enlarged adrenocortical cells larger size of cells of the steroid hormone-producing cells of the cortex of the adrenal gland MP:0000647 abnormal sebaceous gland morphology any structural anomaly of the holocrine glands that secrete sebum into the hair follicles or in hairless areas into ducts MP:0000648 absent sebaceous gland absence of the holocrine glands of the dermis that secrete sebum into the hair follicles MP:0000649 sebaceous gland atrophy acquired diminution of the size of the holocrine glands of the dermis that secrete sebum into the hair follicles, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0000650 mesocardia congenital defect in which the heart is located in the middle of the thorax instead of on the left side (levocardia, the normal position) MP:0000652 enlarged sebaceous gland increased size of the sebum secreting glands of the hair shaft MP:0000653 abnormal sex gland morphology any structural anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction MP:0000654 absent sex gland missing any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction MP:0000655 dilated sex gland stretched appearance or excessive fluid in one or more sex glands MP:0000659 prostate gland hyperplasia increase in the number of normal cells in normal arrangement in the prostate gland, typically resulting in increased size MP:0000660 prostate gland lateral lobe hypoplasia decrease in the number of normal cells in normal arrangement in the prostate gland lateral lobe, typically resulting in decreased size MP:0000661 small prostate gland ventral lobe reduced size of the rodent prostate lobe that is located below the ventral aspect of the bladder neck MP:0000662 abnormal branching of the mammary ductal tree anomaly in the development of the channels that secrete milk and direct milk to the nipple MP:0000664 small prostate gland anterior lobe reduced size of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles MP:0000665 decreased ductal branching in the coagulating gland fewer branches and distal tips of the vesicles of the coagulating gland MP:0000666 decreased prostate gland duct number fewer than normal minute canals that pass the prostatic secretions to the urethra MP:0000671 bulbourethral gland hypoplasia decrease in the number of normal cells in normal arrangement in the bulbourethral gland, typically resulting in decreased size MP:0000672 obsolete decreased mucin cell number OBSOLETE. fewer than normal number of cells that secrete fluid containing carbohydrate-rich glycoproteins MP:0000674 abnormal sweat gland morphology any structural anomaly of any of the coil glands of the skin that secrete sweat MP:0000675 abnormal eccrine sweat gland morphology any structural anomaly of the coiled tubular glands situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans; in mice these are the only sweat glands present MP:0000676 abnormal body water content more or less than the normal total amount of water retained in the body MP:0000678 abnormal parathyroid gland morphology any structural anomaly of one of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism MP:0000679 increased percent water in carcass more than the normal total amount of water retained in the body measured post mortem MP:0000680 absent parathyroid glands missing the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland, which secrete parathyroid hormone (PTH) MP:0000681 abnormal thyroid gland morphology any structural anomaly of the endocrine gland located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin MP:0000683 decreased percent water in carcass less than the normal total amount of water retained in the body measured post mortem MP:0000685 abnormal immune system morphology any structural anomaly in the organs or cells associated with the development and formation of lymphocytes MP:0000687 small lymphoid organs reduced size of lymphatic tissues MP:0000688 lymphoid hyperplasia increase in the number of normal cells in normal arrangement in the lymphoid tissue, typically resulting in increased size MP:0000689 abnormal spleen morphology any structural anomaly of the organ that functions to filter blood and to store red corpuscles and platelets MP:0000690 absent spleen missing organ that functions to filter blood and to store red corpuscles and platelets MP:0000691 enlarged spleen increased spleen size MP:0000692 small spleen decreased spleen size MP:0000693 spleen hyperplasia increase in the number of normal cells in normal arrangement in the spleen, typically resulting in increased size MP:0000694 spleen hypoplasia decrease in the number of normal cells in normal arrangement in the spleen, typically resulting in decreased size MP:0000696 abnormal Peyer's patch morphology any structural anomaly of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles MP:0000697 obsolete more prevalent Peyer's patches OBSOLETE. greater or more obvious numbers of Peyer's patches MP:0000698 obsolete less prevalent Peyer's patches OBSOLETE. fewer or less obvious numbers of Peyer's patches MP:0000700 abnormal lymph node number deviation from the normal number of lymph nodes MP:0000701 abnormal lymph node size deviation from the normal lymph node size MP:0000702 enlarged lymph nodes lymph nodes of increased size MP:0000703 abnormal thymus morphology any structural anomaly of the primary lymphoid organ that is required for maturation of T cells and secretion of thymosins, hormones that stimulate the development of antibodies; the thymus also stimulates the production of certain pituitary gland hormones that promote growth and sexual maturation MP:0000704 abnormal thymus development anomaly in the formation and/or differentiation of the thymus MP:0000705 athymia absence of the primary lymphoid organ MP:0000706 small thymus reduced size of the thymus MP:0000708 thymus hyperplasia increase in the number of normal cells in normal arrangement in the thymus, typically resulting in increased size MP:0000709 enlarged thymus increased size of thymus MP:0000711 thymus cortex hypoplasia decrease in the number of normal cells in normal arrangement in the tymus cortex, typically resulting in decreased size MP:0000712 obsolete abnormal thymocyte OBSOLETE. MP:0000713 obsolete abnormal thymocyte number OBSOLETE. MP:0000714 increased thymocyte number greater than expected number of immature T cells located in the thymus MP:0000715 decreased thymocyte number fewer than expected number of immature T cells located in the thymus MP:0000716 abnormal immune system cell morphology any structural anomaly of immune cells MP:0000717 abnormal lymphocyte cell number deviation from the normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells MP:0000726 absent lymphocyte absence of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells MP:0000727 absent CD8-positive, alpha-beta T cells lack of the set of single-positive T cells that express CD8 on their surface MP:0000729 abnormal myogenesis anomaly in embryonic formation of muscle cells or fibers MP:0000730 increased satellite cell number greater number of unfused cells in muscle that play a role in muscle regeneration MP:0000731 increased collagen deposition in the muscles accumulation of collagen within the muscles MP:0000732 delayed primary myocyte appearance development of initial muscle cells at a later time than is normal MP:0000733 abnormal muscle development any anomaly in the differentiation of muscle tissue MP:0000734 muscle hypoplasia decrease in the number of normal cells in normal arrangement in the muscle, typically resulting in decreased size MP:0000736 delayed muscle development late onset of the induction and/or differentiation of skeletal muscle MP:0000737 abnormal myotome development malformation of or absence of the part of the somite that develops into the musculature MP:0000738 impaired muscle contractility inability or reduced ability of a muscle to shorten or to develop increased tension MP:0000740 impaired smooth muscle contractility inability or reduced ability of the smooth muscle to shorten or to develop increased tension MP:0000741 impaired contractility of urinary bladder detrusor smooth muscle inability or reduced ability of the detrusor smooth muscle of the urinary bladder to shorten or to develop increased tension voluntarily or involuntarily; stretching of the smooth muscle fibers by accumulation of urine in the bladder leads to nervous signaling giving the urge to urinate; contraction of the detrusor muscle leads to urination, via emptying of the urine contained in the bladder through the urethra and urine excretion MP:0000742 impaired contractility of ileal smooth muscle inability or reduced ability of the ileal smooth muscle to shorten or to develop increased tension MP:0000743 muscle spasm an involuntary and often painful muscle contraction or cramps having a number of causes ranging from nutritional deficiency to serious nervous system conditions MP:0000745 tremors repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement MP:0000746 weakness state of being infirm or less strong than normal MP:0000747 muscle weakness loss of muscle strength MP:0000748 progressive muscle weakness increasing loss of muscle strength over time MP:0000749 muscle degeneration pathological deterioration of muscle tissue, often accompanied by loss of function MP:0000750 abnormal muscle regeneration anomaly in the renewal, repair, and/or regrowth of muscle tissue following injury or disease MP:0000751 myopathy any abnormal condition or disease of the skeletal muscle MP:0000752 dystrophic muscle progressive weakness and wasting of muscle MP:0000753 paralysis severe or complete loss of power of voluntary movement in a muscle through injury or disease of its nerve supply MP:0000754 paresis mild or partial loss of power of voluntary movement in a muscle through injury or disease of it or its nerve supply MP:0000755 hindlimb paralysis severe or complete loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply MP:0000756 forelimb paralysis severe or complete loss of power of voluntary movement in muscles of the forelimb through injury or disease of it or its nerve supply MP:0000757 herniated abdominal wall protrusions through and/or into the abdominal wall often resulting in the extrusion of viscera MP:0000759 abnormal skeletal muscle morphology any structural anomaly of any of the striated muscle fibers connected at either or both extremities with the bony framework of the body MP:0000761 thin diaphragm muscle reduced thickness of the diaphragm muscle MP:0000762 abnormal tongue morphology any structural anomaly of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor MP:0000763 abnormal filiform papillae morphology any structural anomaly of the keratinized projections on the dorsal surface of the tongue MP:0000764 abnormal tongue epithelium morphology any structural anomaly of the epithelial layer of the tongue MP:0000765 abnormal tongue squamous epithelium morphology any structural anomaly of the scaly epithelial layer of the tongue MP:0000766 absent tongue squamous epithelium missing the scaly epithelial layer of the tongue MP:0000767 abnormal smooth muscle morphology any structural anomaly of any of the unstriated muscle fibers of the internal organs, blood vessels, hair follicles, etc. MP:0000768 obsolete nervous system abnormalities OBSOLETE. any malformation or anomaly in the entire nerve apparatus, composed of a central part, the brain and spinal cord, and a peripheral part, the cranial and spinal nerves, autonomic ganglia, and plexuses MP:0000771 abnormal brain size deviation from the average range of brain size for an organism MP:0000774 decreased brain size smaller appearance of the brain MP:0000776 abnormal inferior colliculus morphology any structural anomaly of the paired inferior eminence of the mesencephalic tectum that is involved in preliminary visual processing, and control of eye movements MP:0000777 increased inferior colliculus size enlargement of the paired inferior eminence of the mesencephalic tectum MP:0000778 abnormal nervous system tract morphology any structural anomaly in the structure of any bundle of myelinated nerve fibers following a defined path through the brain and/or spinal cord MP:0000779 obsolete gliosis of tract OBSOLETE. MP:0000780 abnormal corpus callosum morphology any structural anomaly of a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres MP:0000781 decreased corpus callosum size smaller thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres MP:0000783 abnormal forebrain morphology any structural anomaly of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) MP:0000784 forebrain hypoplasia decrease in the number of normal cells in normal arrangement in the forebrain, typically resulting in decreased size MP:0000785 telencephalon hypoplasia decrease in the number of normal cells in normal arrangement in the telencephalon, typically resulting in decreased size MP:0000786 abnormal embryonic neuroepithelial layer differentiation abnormal or arrest of differentiation or patterning of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells MP:0000787 abnormal telencephalon morphology any structural anomaly of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures, and is considered to be the seat of conscious mental processes; it develops from the anterior-most embryological division of the brain that develops from the prosencephalon MP:0000788 abnormal cerebral cortex morphology any structural anomaly of thin layer of grey matter on the surface of the cerebral hemisphere that folds into gyri; it is responsible for intellectual faculties and higher mental functions MP:0000789 thickened cerebral cortex increased depth of the mantle covering the surface of the cerebral hemispheres MP:0000790 abnormal stratification in cerebral cortex abnormal formation or pattern of the layers of the cerebral cortex MP:0000791 delaminated cerebral cortex splitting of the layers of the grey cellular mantle covering the surface of the brain MP:0000792 abnormal cortical marginal zone morphology any structural anomaly of the developing superficial cortical layer located just under the pia matter MP:0000794 abnormal parietal lobe morphology any structural anomaly of the upper central part of the cerebral hemisphere MP:0000795 abnormal postcentral gyrus morphology any structural anomaly of the area of the parietal lobe that receives general sensation from the body MP:0000796 abnormal sensory dissociation area morphology any structural anomaly of the area of the parietal lobe that integrates tactile and visual stimuli MP:0000797 abnormal supramarginal gyrus morphology any structural anomaly of the area of the frontal lobe that is involved in perception based on sensory stimuli MP:0000798 abnormal frontal lobe morphology any structural anomaly of the anterior part of the cerebral hemisphere MP:0000799 abnormal precentral gyrus morphology any structural anomaly of the area of the frontal lobe that contains the cell bodies of the primary motor pathways MP:0000800 abnormal supplemetal motor cortex morphology any structural anomaly of the area of the frontal lobe that is involved with integration of voluntary movements and with speech MP:0000801 abnormal temporal lobe morphology any structural anomaly of the lower lateral part of the cerebral hemisphere MP:0000802 abnormal superior temporal gyrus morphology any structural anomaly of one of three major convolutions of the external surface of the temporal lobe of the cerebral hemispheres that is uppermost and borders the lateral (sylvian) fissure, and contains the primary auditory cortex MP:0000803 abnormal transverse gyrus of Heschl morphology any structural anomaly of the area of the temporal lobe concerned with hearing MP:0000804 abnormal occipital lobe morphology any structural anomaly of the posterior part of the cerebral hemisphere MP:0000805 abnormal visual cortex morphology any structural anomaly of the area of the occipital cortex concerned with vision MP:0000807 abnormal hippocampus morphology any structural anomaly of the deep lying structure of the cerebrum involved with memory storage and spatial navigation MP:0000808 abnormal hippocampus development improper differentiation of the hippocampus MP:0000809 absent hippocampus missing convoluted brain structure below the cerebral hemispheres; forms part of the limbic system MP:0000811 hippocampal neuron degeneration a retrogressive impairment of function or destruction of the neuronal cells in the hippocampus MP:0000812 abnormal dentate gyrus morphology any structural anomaly of one of two interlocking gyri of the hippocampus formation that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus MP:0000813 abnormal hippocampus layer morphology any structural anomaly of the layers of the laminar structure of the hippocampus MP:0000814 absent dentate gyrus lack of the section of the hippocampus normally situated above the gyrus hippocampi and composed of three layers, the molecular, granular, and polymorphic layers MP:0000815 abnormal Ammon gyrus morphology any structural anomaly of one or both of the two interlocking gyri of the hippocampus formation; a circonvolution of rhinencephalon, the grey substance of which is rich in big pyramidal neuronal cells MP:0000816 obsolete abnormal hippocampal molecular layer morphology OBSOLETE. MP:0000818 abnormal amygdala morphology any structural anomaly of the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe; this area is involved in aggression and fear responses MP:0000819 abnormal olfactory bulb morphology any structural anomaly of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex MP:0000820 abnormal choroid plexus morphology any structural anomaly of the infoldings of blood vessels of the pia mater covered by a thin coat of ependymal cells that form tufted projections into the third, fourth, and lateral ventricles of the brain; choroid plexuses secrete cerebrospinal fluid (CSF) and act as a filtration system, removing metabolic waste, foreign substances, and excess neurotransmitters from the CSF MP:0000821 choroid plexus hyperplasia increase in the number of normal cells in normal arrangement in the choroid plexus, typically resulting in increased size MP:0000822 abnormal brain ventricle morphology any structural anomaly of the system of four communicating cavities within the brain that are continuous with the central canal of the spinal cord MP:0000823 abnormal lateral ventricle morphology any structural anomaly of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle MP:0000825 dilated lateral ventricle the luminal space of one or both lateral ventricles is increased in volume or area, usually with an increase in contained fluid MP:0000826 abnormal third ventricle morphology any structural anomaly of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina MP:0000827 dilated third ventricle the luminal space of the third ventricle is increased in volume or area, usually with an increase in contained fluid, in the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina MP:0000828 abnormal fourth ventricle morphology any structural anomaly of the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space MP:0000829 dilated fourth ventricle the luminal space of the fourth ventricle is increased in volume or area, usually with an increase in contained fluid, in the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space MP:0000830 abnormal diencephalon morphology any structural anomaly of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex MP:0000831 diencephalon hyperplasia increase in the number of normal cells in normal arrangement in the diencephalon, typically resulting in increased size MP:0000832 abnormal thalamus morphology any structural anomaly of the large ovoid mass of paired bodies containing mostly grey matter and forming part of the lateral wall of the third ventricle of the brain MP:0000833 thalamus hyperplasia increase in the number of normal cells in normal arrangement in the thalamus, typically resulting in increased size MP:0000834 abnormal subthalamus morphology any structural anomaly of the anterior part of the diencephalon that lies between the thalamus, hypothalamus, and tegmentum of the mesencephalon, including subthalamic nucleus, zona incerta, the fields of Forel, and the nucleus of ansa lenticularis MP:0000835 abnormal subthalamic nucleus morphology any structural anomaly of the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function MP:0000836 abnormal substantia nigra morphology any structural anomaly of the layer of grey substance that separates the posterior parts of the cerebral peduncles (tegmentum mesencephali) from the anterior parts; it normally includes a posterior compact part with many pigmented cells (pars compacta) and an anterior reticular part whose cells contain little pigment (pars reticularis) MP:0000837 abnormal hypothalamus morphology any structural anomaly of the ventral part of the diencephalon extending from the region of the optic chiasm to the caudal border of the mammillary bodies and forming the inferior and lateral walls of the third ventricle; this region regulates the autonomic nervous system via hormone production and release MP:0000838 obsolete abnormal pituitary afferents OBSOLETE. MP:0000839 hypothalamus hyperplasia increase in the number of normal cells in normal arrangement in the hypothalamus, typically resulting in increased size MP:0000840 abnormal epithalamus morphology any structural anomaly of the small dorsomedial area of the thalamus including the habenular nuclei and associated fiber bundles, the pineal body, and the epithelial roof of the third ventricle MP:0000841 abnormal hindbrain morphology any structural anomaly of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived; the metencephalon (anterior part of the embryonic hindbrain), gives rise to the cerebellum and pons while the myelencephalon (posterior portion of the embryonic hindbrain) gives rise to the medulla oblongata MP:0000842 absent superior olivary complex missing nucleus of neurons on the dorsal part of the lateral surface of the pons; it normally receives projection fibers from the cochlear nuclei and is prominently involved in spatial localization of sound MP:0000843 absent facial nuclei missing nucleus of neurons in the hindbrain; receives fibers from the facial muscles, stapedus muscle and stylohyoid muscle MP:0000844 abnormal pontine flexure morphology any structural anomaly of the dorsally concave bend of the embryonic rhombencephalon that produces a thinning of the roof of the pons and medulla oblongata and defines the boundary between the metencephalon and myelencephalon in the embryo MP:0000846 abnormal medulla oblongata morphology any structural anomaly in the most caudal region of the brainstem that lies directly rostral to the spinal cord; includes regions responsible for autonomic functions such as digestion, breathing and control of heart rate MP:0000847 abnormal metencephalon morphology any structural anomaly of the anterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the cerebellum and the pons Varolii MP:0000848 abnormal pons morphology any structural anomaly of the band of nerve fibers in the brain connecting the medulla oblongata and the mesencephalon; this region conveys information about movement from the cerebral hemisphere to the cerebellum MP:0000849 abnormal cerebellum morphology any structural anomaly of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills MP:0000850 absent cerebellum missing the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement MP:0000851 cerebellum hypoplasia decrease in the number of normal cells in normal arrangement in the cerebellum, typically resulting in decreased size MP:0000852 small cerebellum reduced size of cerebellum MP:0000853 absent cerebellar foliation missing small branches of the cerebellar lobules MP:0000854 abnormal cerebellum development aberrant or incomplete differentiation of the part of the metencephalon that lies dorsal to the pons and medulla behind the brain stem and controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills MP:0000855 accelerated formation of intralobular fissures formation of the major fissures of the cerebellum earlier in development than normal MP:0000856 abnormal cerebellar plate morphology any structural anomaly of the embryonic pseudostratified epithelium of the fourth cerebellar ventricle that eventually forms the vermis and ventral neuroepithelium MP:0000857 abnormal cerebellar foliation any anomaly of the pattern of the ten cerebellar lobules; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres and the intermediate zone that separates the vermis from the lateral hemispheres; in addition, each of the ten basic lobules can be subdivided into sublobules but strain and species differences are reported MP:0000858 abnormal metastatic potential altered likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it MP:0000859 abnormal somatosensory cortex morphology any structural anomaly of the area of the parietal lobe that lies posterior to the central sulcus and is concerned with receiving and processing general sensations from the body surface MP:0000860 abnormal primary somatosensory cortex morphology any structural anomaly of the area of the postcentral gyrus and central sulcus that is involved in somatic sensation MP:0000861 disorganized barrel cortex derangement of the pattern of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae MP:0000862 absent barrels in primary somatosensory cortex missing pattern of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae MP:0000863 abnormal secondary somatosensory cortex morphology any structural anomaly of the area of the upper bank of the lateral sulcus that is involved in somatic sensation MP:0000864 abnormal cerebellum vermis morphology any structural anomaly of the narrow medial zone between the two hemispheres of the cerebellum that is delimited by two longitudinal furrows; it may be continuous with the cerebellar hemispheres in some areas of the cerebellum, e.g., dorsally, or separated by deeper fissues in others (e.g., ventrally); it receives inputs from the spinocerebellar tracts which carry to the vermis information on the position and balance of the torso, and it sends projections to the fastigial nucleus of the cerebellum, which then sends output to the vestibular nuclei MP:0000865 absent cerebellum vermis missing narrow middle zone between the two hemispheres of the cerebellum MP:0000866 cerebellum vermis hypoplasia decrease in the number of normal cells in normal arrangement in the cerebellum vermis, typically resulting in decreased size MP:0000867 abnormal cerebellum anterior vermis morphology any structural anomaly of the anterior portion of the narrow middle zone between the two hemispheres of the cerebellum that is located anterior to the primary fissure MP:0000868 decreased anterior vermis size smaller appearance of the narrow middle zone between the two hemispheres of the anterior lobe of the cerebellum MP:0000869 abnormal cerebellum posterior vermis morphology any structural anomaly of the posterior portion of the narrow middle zone between the two hemispheres of the cerebellum that is located posterior to the primary fissure MP:0000870 absent cerebellum vermis lobule VIII missing part of the inferior vermis of the cerebellum (vermis lobule VIII) MP:0000871 absent cerebellum vermis lobule IX missing triangular elevation on the vermis of the cerebellum MP:0000872 abnormal cerebellum external granule cell layer morphology any structural anomaly of the transient layer of the cerebellar cortex present during development which is composed of the dividing and migrating granule cells MP:0000873 thin external granule cell layer reduced thickness of the transient layer of the cerebellar cortex present during development which is composed of dividing and migrating granule cells MP:0000874 irregular external granule cell layer thickness uneven thickness of the transient layer of the cerebellar cortex present during development which is composed of dividing and migrating granule cells MP:0000875 abnormal cerebellar Purkinje cell layer any structural anomaly of the cell layer that lies just underneath the molecular layer of the cerebellar cortex; it contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer, and candelabrum interneurons are vertically oriented between the Purkinje cells MP:0000876 Purkinje cell degeneration a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex MP:0000877 abnormal Purkinje cell morphology any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells MP:0000878 abnormal Purkinje cell number different from average number of neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex MP:0000879 increased Purkinje cell number greater than normal number of neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex MP:0000880 decreased Purkinje cell number fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex MP:0000881 obsolete Abnormal Purkinje Cell Size OBSOLETE. MP:0000882 obsolete Increased Purkinje Cell Size dup. OBSOLETE. MP:0000883 obsolete Decreased Purkinje Cell Size dup. OBSOLETE. MP:0000884 delaminated Purkinje cell layer splitting or disorganization of the layer of large neuron cell bodies between the molecular and granular layers of the cerebellum MP:0000885 ectopic Purkinje cell Purkinje cell body resides in places other than the Purkinje cell layer in the cerebellum MP:0000886 abnormal cerebellar granule layer morphology any structural anomaly of the innermost cortical layer of the cerebellum; contains densely packed small neurons, mostly granule cells with some Golgi cells are found at the outer border MP:0000887 delaminated cerebellar granule layer splitting or disorganization of the deepest of the three layers of the cerebellum that contains granule cells MP:0000888 absent cerebellar granule layer absence of the innermost cortical layer of the cerebellum; contains densely packed small neurons, mostly granule cells with some Golgi cells are found at the outer border MP:0000889 abnormal cerebellar molecular layer any structural anomaly of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells MP:0000890 thin cerebellar molecular layer reduced width of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells MP:0000891 obsolete Abnormal Thickness of Molecular Layer OBSOLETE. MP:0000892 obsolete Increased Thickness of Molecular Layer OBSOLETE. MP:0000893 obsolete Decreased Thickness of Molecular Layer OBSOLETE. MP:0000894 obsolete Abnormal Cell Number of Molecular Layer OBSOLETE. MP:0000895 obsolete Increased Cell Number of Molecular Layer OBSOLETE. MP:0000896 obsolete Decreased Cell Number of Molecular Layer OBSOLETE. MP:0000897 abnormal midbrain morphology any structural anomaly associated with the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes MP:0000898 midbrain hyperplasia increase in the number of normal cells in normal arrangement in the brain region derived from the middle of the three cerebral vesicles of the embryo, typically resulting in increased size MP:0000899 abnormal corpora quadrigemina morphology any structural anomaly of the inferior and superior colliculus MP:0000900 decreased colliculi size smaller inferior and superior colliculus MP:0000901 abnormal position of colliculi positional abnormality of the inferior and superior colliculus MP:0000904 abnormal superior colliculus morphology any structural anomaly of the paired superior eminence of the mesencephalic tectum that is involved in auditory processing MP:0000905 increased superior colliculus size enlargement of the paired superior eminence of the mesencephalic tectum MP:0000906 abnormal trigeminal V mesencephalic nucleus morphology any structural anomaly of the group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve MP:0000907 small mesencephalic trigeminal nucleus reduced size of the group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve MP:0000908 absent mesencephalic trigeminal nucleus missing group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve MP:0000909 abnormal facial motor nucleus morphology any structural anomaly of the group of motor neurons residing in the pons that innervate the muscles of facial expression MP:0000910 small facial motor nucleus reduced size of the group of motor neurons residing in the pons that innervate the muscles of facial expression MP:0000911 abnormal trigeminal motor nucleus morphology any structural anomaly of the group of motor neurons innervating the muscles of mastication MP:0000912 small trigeminal motor nucleus reduced size of the group of motor neurons innervating the muscles of mastication MP:0000913 abnormal brain development aberrant or incomplete differentiation of the brain MP:0000914 exencephaly neurocranial defects resulting in exposure or extrusion of the brain MP:0000917 obstructive hydrocephaly hydrocephaly due to a block in cerebrospinal fluid flow in the ventricular system MP:0000919 cranioschisis incomplete closure of the skull, usually congenital MP:0000920 abnormal myelination any anomaly in the process by which myelin sheaths are formed and maintained around neurons; oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane MP:0000921 demyelination abnormal degeneration or destruction of the myelin sheath that results in the partial absence or patchy, incomplete area of a myelin sheath over all or part of an axon or fiber tract MP:0000923 abnormal roof plate morphology any structural anomaly of the single row of specialized glial cells that occupies the dorsal midline of the developing neural tube along the entire anterior-posterior axis; the roof plate serves as a critical embryonic signaling center for the organization of dorsal neuronal cell types, and acts as a barrier preventing axons and cells migrating across the dorsal midline MP:0000924 absent roof plate absence of the single row of specialized glial cells that occupies the dorsal midline of the developing neural tube along the entire anterior-posterior axis; the roof plate serves as a critical embryonic signaling center for the organization of dorsal neuronal cell types, and acts as a barrier preventing axons and cells migrating across the dorsal midline MP:0000925 abnormal floor plate morphology any structural anomaly of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube MP:0000926 absent floor plate absence of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube MP:0000927 small floor plate reduced size of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube MP:0000928 incomplete rostral neuropore closure arrest of the fusion of the cephalic neural folds MP:0000929 open neural tube failure of completion of the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline MP:0000930 wavy neural tube undulations in the embryonic neural tube MP:0000932 absent notochord missing axial fibrocellular cord in embryos around which develops the vertebral primordia MP:0000933 abnormal rhombomere morphology any structural anomaly of any of the transiently divided segments of the developing neural tube of vertebrate embryos found within the hindbrain region in the area that will eventually become the rhombencephalon; the rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure MP:0000934 abnormal telencephalon development anomaly in the progression of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures, and is considered to be the seat of conscious mental processes; it develops from the anterior-most embryological division of the brain that develops from the prosencephalon MP:0000935 abnormal folding of telencephalic vesicles malformation of the stereotypic invaginations forming the paired diverticula of the telencephalon MP:0000936 small embryonic telencephalon reduced size of the paired diverticula of the embryonic telencephalon, from which the forebrain develops MP:0000937 abnormal motor neuron morphology any structural anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses MP:0000938 motor neuron degeneration retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses MP:0000939 decreased motor neuron number fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses MP:0000940 abnormal motor neuron innervation pattern any changes in the placement, morphology or number of motor nerve fibers to an effector motor tissue, or failure of refinement of neuronal connections during development MP:0000941 obsolete failure of motor neuron target finding OBSOLETE. failure of an innervating motor neuron to stop at target site and form terminal arbors MP:0000942 obsolete excessive motor neuron axon growth OBSOLETE. innervating motor neuron projections grow past typical endplate target and extend to myotendenous ends of muscle MP:0000944 obsolete Reduced Olfactory mitral Cells OBSOLETE. MP:0000947 convulsive seizures seizures characterized by uncontrolled motor activity MP:0000948 nonconvulsive seizures seizures without uncontrolled motor activity, but with impairment of consciousness MP:0000950 abnormal seizure response to pharmacological agent anomaly in the seizure activity response that is brought about by treatment with pharmacological agents MP:0000951 sporadic seizures occasional seizures occurring at irregular intervals MP:0000952 abnormal CNS glial cell morphology any structural anomaly of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons MP:0000953 abnormal oligodendrocyte morphology any structural anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS MP:0000954 decreased oligodendrocyte progenitor number fewer cells that differentiate into a type of glial cell in the central nervous system MP:0000955 abnormal spinal cord morphology any structural anomaly of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris MP:0000956 decreased spinal cord size smaller appearance of the spinal cord MP:0000958 peripheral nervous system degeneration a retrogressive impairment of function or destruction of the ganglia and peripheral nerves that lie outside the brain and spinal cord MP:0000959 abnormal somatic sensory system morphology any structural anomaly of the neural tissue involved in the transmission of sensory signals MP:0000960 abnormal sensory ganglion morphology any structural anomaly of the clusters of neurons in the somatic peripheral nervous system which contain the cell bodies of sensory nerve axons, interneurons and non-neuronal supporting cells MP:0000961 abnormal dorsal root ganglion morphology any structural anomaly of a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column MP:0000962 disorganized dorsal root ganglion loss of segmentation pattern of dorsal root ganglia or loss of regular spacing between the ganglia MP:0000963 fused dorsal root ganglion loss of DRG spacing pattern and the appearance of two or more ganglia as one MP:0000964 small dorsal root ganglion reduced size a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column MP:0000965 abnormal sensory neuron morphology any structural anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses MP:0000966 decreased sensory neuron number fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses MP:0000968 abnormal sensory neuron innervation pattern any changes in the placement, morphology or number of sensory nerve fibers to sensory termini or to spinal cord MP:0000969 abnormal nociceptor morphology any structural anomaly of any of the peripheral receptors for pain, including receptors sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli MP:0000970 abnormal polymodal receptor morphology anomaly in a sensory receptor that may be stimulated by mechanical, thermal or chemical means MP:0000971 abnormal thermoreceptor morphology any structural anomaly of any of the cellular receptors that mediate the sense of temperature; in vertebrates, these are most often located under the skin MP:0000972 abnormal mechanoreceptor morphology anomaly in the receptors of the body, usually nerve termini, that respond to mechanical pressure or distortion MP:0000973 abnormal cutaneous/subcutaneous mechanoreceptor morphology any structural anomaly of the neuronal receptors that respond to mechanical pressure or distortion in the skin MP:0000974 abnormal hair guard neuron morphology anomaly of the subcutaneous mechanoreceptors that innervate hair follicles of guard hairs, and are involved in the amplification of slow-moving and/or light touch stimuli signals MP:0000975 absent hair guard neurons absence of the subcutaneous mechanoreceptors that innervate hair follicles of guard hairs, and are involved in the amplification of slow-moving and/or light touch stimuli signals MP:0000976 hyperinnervation of hair guard cells more robust innervation of the subcutaneous mechanoreceptors that innervate hair follicles of guard hairs, and are involved in the amplification of slow-moving and/or light touch stimuli signals MP:0000977 abnormal hair-tylotrich neuron morphology anomaly of the subcutaneous mechanoreceptors that innervate tylotrich hair follicles MP:0000978 hyperinnervation of hair-tylotrich cells more robust innervation of the hair tylotrich cells MP:0000979 abnormal hair-down neuron morphology anomaly of the subcutaneous mechanosensitive D-hair (down-hair) neurons, which innervate hair follicles, and are characterized by a large-amplitude Cav3.2 T-current involved in the amplification of slow-moving and/or light touch stimuli MP:0000980 absent hair-down neurons absence of the subcutaneous mechanosensitive D-hair (down-hair) neurons, which innervate hair follicles, and are characterized by a large-amplitude Cav3.2 T-current involved in the amplification of slow-moving and/or light touch stimuli MP:0000981 hyperinnervation of hair-down cells more robust innervation of the subcutaneous mechanosensitive D-hair (down-hair) neurons, which innervate hair follicles, and are characterized by a large-amplitude Cav3.2 T-current involved in the amplification of slow-moving and/or light touch stimuli MP:0000982 abnormal Meissner's corpuscle morphology any structural anomaly of any of the numerous oval bodies found in the dermal papillae of glabrous skin that transmit information about skin motion and slipping objects MP:0000983 enlarged Meissner's corpuscles larger than average size of any of the numerous oval bodies found in the dermal papillae of glabrous skin that transmit information about skin motion and slipping objects MP:0000984 hyperinnervation of Meissner's corpuscle more robust supply of nerve fibers connected to any part of any of the numerous oval bodies found in the dermal papillae of glabrous skin that transmit information about skin motion and slipping objects MP:0000985 abnormal Merkel's receptor morphology any structural anomaly of the modified epidermal cells located in the stratum basale and found mostly in areas where sensory perception is acute MP:0000986 increased Merkel's receptor number greater than the normal number of the modified epidermal cells located in the stratum basale and found mostly in areas where sensory perception is acute MP:0000987 hyperinnervation of Merkel's receptor more robust supply of nerve fibers connected to the modified epidermal cells located in the stratum basale and found mostly in areas where sensory perception is acute MP:0000988 abnormal pacinian corpuscle morphology any structural anomaly of any of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin, and which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers; trasmit signals generated by vibrations when grasping an object MP:0000989 abnormal Ruffini's corpuscle morphology any structural anomaly in the sensory cells in the subcutaneous tissue of the digits specialized to transduce mechanical stimuli, skin stretch, direction of object motion, hand shape and finger position MP:0000990 abnormal skeletal muscle mechanoreceptor morphology any structural anomaly of the receptors that respond to mechanical pressure or distortion in the skeletal muscle MP:0000991 abnormal primary muscle spindle morphology any structural anomaly of the sensory organ in muscle; involved in the stretch reflex and sensitive to stretch velocity MP:0000992 absent primary muscle spindle missing sensory organ in muscle; involved in the stretch reflex and is sensitive to stretch velocity MP:0000993 partial loss of primary muscle spindle missing a portion of the sensory organ in muscle; involved in the stretch reflex and is sensitive to stretch velocity MP:0000994 abnormal secondary muscle spindle morphology any structural anomaly of the sensory organ in muscle; involved in the stretch reflex and not sensitive to stretch velocity MP:0000995 absent secondary muscle spindle lack of the sensory organ in muscle; involved in the stretch reflex and is not sensitive to stretch velocity MP:0000996 partial loss of secondary muscle spindle missing a portion of the sensory organ in muscle; involved in the stretch reflex and is not sensitive to stretch velocity MP:0000997 abnormal synovial joint capsule morphology any structural anomaly of the sac or its contents that encloses the articulating ends of bones participating in a synovial joint MP:0000998 absent synovial joint capsule missing the sac that encloses the articulating ends of bones participating in a synovial joint MP:0000999 abnormal golgi tendon organ morphology any structural anomaly of the sensory organ in muscle that is involved in regulating muscle tension MP:0001000 absent golgi tendon organ missing sensory organ in muscle that is involved in regulating muscle tension MP:0001001 abnormal chemoreceptor morphology any structural anomaly of any of the cells specialized to detect chemical substances and relay that information centrally in the nervous system MP:0001002 obsolete abnormal taste bud morphology OBSOLETE. any structural anomaly of the small sensory organs located in the tongue that contain gustatory receptor cells, basal cells, and supporting cells MP:0001003 abnormal olfactory receptor morphology any structural anomaly of the proteins, usually projecting from the cilia of olfactory receptor neurons, that specifically bind odorant molecules and trigger responses in the specialized neurons of the olfactory epithelium MP:0001004 abnormal retina photoreceptor morphology any structural anomaly of a cell specialized to detect and transduce light, including rods and cones of the retina MP:0001005 abnormal retina rod cell morphology any structural anomaly of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane; rods are more sensitive to light than cones, but rod mediated vision has less spatial and temporal resolution than cone vision MP:0001006 abnormal retina cone cell morphology any structural anomaly of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment; cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision MP:0001007 abnormal sympathetic system morphology any structural anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations MP:0001008 abnormal sympathetic ganglion morphology any structural anomaly of the ganglia of the sympathetic nervous system including the paravertebral and the prevertebral ganglia, which include the sympathetic chain ganglia, the superior, middle, and inferior cervical ganglia, and the aorticorenal, celiac, and stellate ganglia MP:0001009 paravertebral ganglia hyperplasia increase in the number of normal cells in normal arrangement in the paravertebral ganglia, typically resulting in increased size MP:0001010 prevertebral ganglia hyperplasia increase in the number of normal cells in normal arrangement in the prevertebral ganglia, typically resulting in increased size MP:0001011 abnormal superior cervical ganglion morphology any structural anomaly of the group of neurons that is the largest of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck MP:0001012 superior cervical ganglion hypertrophy increase in the size of cells in the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck MP:0001013 enlarged superior cervical ganglion increased size of the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck MP:0001014 absent superior cervical ganglion lack of the group of neurons that is the largest of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck MP:0001015 small superior cervical ganglion reduced size of the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck MP:0001016 abnormal middle cervical ganglion morphology any structural anomaly of the small ganglion located at the level of the cricoid cartilage of the laryngeal wall MP:0001017 abnormal stellate ganglion morphology any structural anomaly of the group of neurons formed by the fusion of the inferior cervical and first thoracic ganglia MP:0001018 obsolete abnormal adrenal gland ganglion OBSOLETE. MP:0001019 abnormal L4 dorsal root ganglion morphology any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the fourth lumbar vertebra MP:0001020 L4 dorsal root ganglion hypertrophy increased bulk size of the L4 spinal ganglion MP:0001021 small L4 dorsal root ganglion reduced size of the L4 spinal ganglion MP:0001022 abnormal L5 dorsal root ganglion morphology any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the fifth lumbar vertebra MP:0001023 L5 dorsal root ganglion hypertrophy increased bulk size of L5 spinal ganglion MP:0001024 small L5 dorsal root ganglion reduced size of the L5 spinal ganglion MP:0001025 abnormal sympathetic neuron morphology any structural anomaly of any of the neurons of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations MP:0001026 abnormal adrenergic neuron morphology any structural anomaly of the neurons which secrete norepinephrine as a neurotransmitter; adrenergic neurons are mostly sympathetic postganglionic nerves plus some within specific brainstem foci MP:0001027 obsolete abnormal adrenergic innervation OBSOLETE. MP:0001028 obsolete adrenergic hyperinnervation of muscle OBSOLETE. MP:0001031 obsolete cholinergic hyperinnervation of muscle OBSOLETE. MP:0001032 abnormal peptidergic neuron morphology any structural anomaly of the nerve fibers that release small peptides as their neurotransmitter MP:0001033 abnormal parasympathetic system morphology any structural anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and generally acts to conserve resources and restore homeostasis, often with effects reciprocal to the sympathetic nervous system MP:0001034 abnormal parasympathetic ganglion morphology any structural anomaly of the ganglia of the parasympathetic nervous system, including the ciliary, pterygopalatine, submandibular, and otic ganglia in the cranial region and intrinsic (terminal) ganglia associated with target organs in the thorax and abdomen MP:0001035 abnormal submandibular ganglion morphology any structural anomaly of the ganglion associated with the lingual nerve that provides postsynaptic fibers to the submandibular and sublingual glands MP:0001036 small submandibular ganglion reduced size of the small parasympathetic ganglion of the lingual nerve MP:0001037 abnormal parasympathetic neuron morphology any structural anomaly of the neurons of the autonomic nervous system that are responsible for innervation of smooth muscle, cardiac muscle and glands MP:0001038 abnormal cholinergic neuron morphology any structural anomaly of the neurons that utilize acetylcholine as a neurotransmitter, including include alpha-motor neurons of the spinal cord, cranial nerves innervating skeletal muscle, preganglionic sympathetic and postganglionic parasympathetic neurons MP:0001039 obsolete abnormal cholinergic innervation OBSOLETE. malformation or absence of the supply of nerve fibers that utilize acetylcholine as a neurotransmitter MP:0001040 deficient enteric cholinergic innervation defective or incomplete supply of nerve fibers to the intestinal system that utilize acetylcholine as a neurotransmitter MP:0001041 obsolete absent lacrimal gland cholinergic innervation OBSOLETE. missing supply of nerve fibers to the gland that secretes tears MP:0001042 obsolete absent sublingual salivary gland cholinergic innervation OBSOLETE. missing supply of nerve fibers to the exocrine gland on the floor of the mouth that secretes saliva MP:0001043 obsolete absent parotid salivary gland cholinergic innervation OBSOLETE. missing supply of nerve fibers to the exocrine gland lateral to the jaw that secretes saliva MP:0001044 abnormal enteric nervous system morphology any structural anomaly of the part of the autonomic nervous system that innervates the gastrointestinal tract, the pancreas, and the gallbladder and can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport MP:0001045 abnormal enteric ganglia morphology any structural anomaly or deformity of the groups of nerve cell bodies associated with the enteric neurons MP:0001046 abnormal enteric neuron morphology any structural anomaly of the neurons that innervate the esophagus, stomach, small and large bowel MP:0001047 abnormal enteric cholinergic neuron morphology any structural anomaly of the neurons that utilize acetylcholine as a neurotransmitter and innervate the esophagus, stomach, small and large bowel MP:0001048 absent enteric neurons absence of the neurons that innervate the esophagus, stomach, small and large bowel MP:0001049 abnormal enteric cholinergic innervation any structural anomaly of the supply of nerve fibers that utilize acetylcholine as a neurotransmitter to the intestinal system MP:0001051 abnormal somatic motor system morphology any structural anomaly of the neural tissue involved in the transmission of motor signals MP:0001052 abnormal innervation pattern to muscle any changes in the placement, morphology or number of sensory, sympathetic or motor nerves to targets in muscle MP:0001053 abnormal neuromuscular synapse morphology any structural anomaly of the membrane to membrane contact of a motor axon and a muscle myofiber that is responsible for the transmission of nerve impulses MP:0001054 failure of neuromuscular synapse presynaptic differentiation inability of nerve terminals to find target and/or form terminal arbors for synaptic transmission at the neuromuscular synapse MP:0001055 failure of neuromuscular synapse postsynaptic differentiation inability of an effector cell to form a differentiated postsynaptic membrane in response to innervation at the neuromuscular synapse MP:0001056 abnormal cranial nerve morphology any structural anomaly of any of the twelve nerves that emerge from the cranium as opposed to the spinal nerves MP:0001059 optic nerve atrophy acquired diminution of the size of the optic nerve, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0001061 abnormal oculomotor nerve morphology any structural anomaly of the third cranial nerve, which normally sends motor fibers to the levator muscles of the eyelid and to the superior rectus, inferior rectus, and inferior oblique muscles of the eye; and also sends parasympathetic efferents to the muscles controlling pupillary constriction and accommodation MP:0001062 absent oculomotor nerve absence of the third cranial nerve, which normally sends motor fibers to the levator muscles of the eyelid and to the superior rectus, inferior rectus, and inferior oblique muscles of the eye MP:0001063 abnormal trochlear nerve morphology any structural anomaly of the fourth cranial nerve, which normally carries the motor innervation of the superior oblique muscles of the eye MP:0001064 absent trochlear nerve absence of the fourth cranial nerve, which normally carries the motor innervation of the superior oblique muscles of the eye MP:0001065 abnormal trigeminal nerve morphology any structural anomaly of the chief sensory nerve of the face and motor nerve of the muscles of mastication; has three major divisions: ophthalmic, maxillary and mandibular MP:0001066 absent trigeminal nerve lack of the chief sensory nerve of the face and motor nerve of the muscles of mastication; has three major divisions: ophthalmic, maxillary and mandibular MP:0001067 absent mandibular nerve missing third division of the trigeminal nerve MP:0001068 abnormal mandibular nerve branching malformed or misprojected axons of the mandibular nerve MP:0001069 obsolete absent trigeminal nerve connections to hindbrain OBSOLETE. missing axonal connection from the trigeminal ganglion to the pons and medulla oblongata MP:0001070 abnormal abducens nerve morphology any structural anomaly of the sixth cranial nerve, which originates in the abducens nucleus of the pons and sends motor fibers to the lateral rectus muscles of the eye MP:0001071 abnormal facial nerve morphology any structural anomaly of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue; principal branches are the superficial opthalmic, buccal, palatine and hyomandibular MP:0001072 abnormal vestibulocochlear nerve morphology any structural anomaly in the composite sensory nerve innervating the receptor cells of the membranous labyrinth; it consists of two major, anatomically and functionally distinct components, each of which have different central connections: the vestibular nerve and the cochlear nerve MP:0001073 abnormal glossopharyngeal nerve morphology any structural anomaly of the sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue; the branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion MP:0001074 abnormal vagus nerve morphology any structural anomaly of the autonomic, sensory and motor axons of the tenth cranial nerve; it is primarily sensory but also has visceromotor components; it originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components, and also controls some motor functions such as speech; the sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis MP:0001075 abnormal accessory nerve morphology any structural anomaly of the eleventh cranial nerve, which normally originates from neurons in the medulla and in the cervical spinal cord MP:0001076 abnormal hypoglossal nerve morphology any structural anomaly of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue MP:0001077 abnormal spinal nerve morphology any structural anomaly of the any of the 31 paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment MP:0001078 abnormal phrenic nerve morphology any structural anomaly of motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues MP:0001079 absent phrenic nerve absence of the motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues MP:0001080 defasiculated phrenic nerve misprojection or failure to bundle the motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues MP:0001081 abnormal cranial ganglia morphology any structural anomaly of the groups of nerve cell bodies associated with the twelve cranial nerves MP:0001082 abnormal geniculate ganglion morphology any structural anomaly of the group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve) MP:0001083 small geniculate ganglion reduced size of the geniculate ganglion or decreased size of sensory neuron cell bodies associated with the facial nerve MP:0001084 abnormal petrosal ganglion morphology any structural anomaly of the larger, lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve MP:0001085 small petrosal ganglion reduced size of the lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve MP:0001086 absent petrosal ganglion absence of the lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve MP:0001087 abnormal nodose ganglion morphology any structural anomaly of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve) MP:0001088 small nodose ganglion reduced size of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve) MP:0001089 absent nodose ganglion absence of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve) MP:0001091 obsolete small vestibular cochlear ganglion OBSOLETE. MP:0001092 abnormal trigeminal ganglion morphology any structural anomaly of the group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve) MP:0001093 small trigeminal ganglion reduced size of the trigeminal ganglion MP:0001094 trigeminal ganglion hypertrophy increased bulk size due to increased cell size of the trigeminal ganglion MP:0001095 enlarged trigeminal ganglion increased size of the group of sensory neuron cell bodies associated with the trigeminal nerve MP:0001096 abnormal glossopharyngeal ganglion morphology any structural anomaly of the two groups of sensory neuron cell bodies associated with the ninth cranial nerve MP:0001097 abnormal superior glossopharyngeal ganglion morphology any structural anomaly of the upper, smaller ganglion of the glossopharyngeal nerve located at the jugular foramen MP:0001098 small superior glossopharyngeal ganglion reduced size of the upper ganglion of the glossopharyngeal nerve located at the jugular foramen MP:0001100 abnormal vagus ganglion morphology any structural anomaly of the group of sensory neuron cell bodies associated with the vagus nerve MP:0001101 abnormal superior vagus ganglion morphology any structural anomaly of the upper ganglion of the vagus nerve located at the jugular foramen MP:0001102 small superior vagus ganglion reduced size of the upper ganglion of the vagus nerve located at the jugular foramen MP:0001105 abnormal PNS glial cell morphology any structural anomaly of non-neuronal cells that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons MP:0001106 abnormal Schwann cell morphology any structural anomaly of the cells which form the insulating myelin sheaths of peripheral axons MP:0001107 decreased Schwann cell number fewer than normal number of cells that sheath the axons of the peripheral nervous system MP:0001108 absent Schwann cells missing cells that sheath the axons of the peripheral nervous system MP:0001109 absent Schwann cell precursors missing progenitors of cells that sheath the axons of the peripheral nervous system MP:0001116 small gonad reduced size of the testis or the ovary MP:0001117 absent gametes absence of mature reproductive cells, ovum or spermatozoon, capable of fusing with a cell of similar origin, but opposite sex to give a zygote MP:0001119 abnormal female reproductive system morphology any structural anomaly of the organs associated with producing offspring in the gender that bears the offspring MP:0001120 abnormal uterus morphology any structural anomaly of the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth MP:0001121 uterus hypoplasia decrease in the number of normal cells in normal arrangement in the uterus, typically resulting in decreased size MP:0001123 dilated uterus stretched or widened luminal space of the female muscular organ of gestation MP:0001124 abnormal gametes anomaly of any mature reproductive cell, ovum or spermatozoon, capable of fusing with a cell of similar origin, but opposite sex, to produce a zygote MP:0001125 abnormal oocyte morphology any structural anomaly of the mature germ cells in the female MP:0001126 abnormal ovary morphology any structural anomaly of the female reproductive gland containing the germ cells MP:0001127 small ovary reduced size of the female reproductive gland containing the germ cells MP:0001128 ovary hyperplasia increase in the number of normal cells in normal arrangement in the ovary, typically resulting in increased size MP:0001129 impaired ovarian folliculogenesis a block in the formation of the spherical ovum in the ovary MP:0001130 abnormal ovarian folliculogenesis atypical formation or failure to form the spherical ovum in the ovary MP:0001131 abnormal ovarian follicle morphology any structural anomaly of the sac-like structure in the ovary which surrounds an ovum MP:0001132 absent mature ovarian follicles absence of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle MP:0001133 impaired luteal cell differentiation abnormal development of the cells of the corpus luteum of the ovary MP:0001134 absent corpus luteum absence of the yellow endocrine body formed in the ovary after follicle rupture MP:0001135 abnormal uterine cervix morphology any structural anomaly of the lower opening of the uterus to the vagina MP:0001136 dilated uterine cervix stretched or widened aperture of the lower opening of the uterus to the vagina MP:0001137 abnormal uterine cervix epithelium morphology any structural anomaly of the epithelial layer of the cervix MP:0001138 abnormal uterine cervix squamous epithelium morphology any structural anomaly of the scaly epithelial layer of the cervix MP:0001139 abnormal vagina morphology any structural anomaly of the part of the genital canal in the female that extends between the cervix of the uterus and the vestibule; it is an organ of copulation that receives the penis during sexual intercourse MP:0001140 abnormal vagina epithelium morphology any structural anomaly of the epithelial layer of the vagina MP:0001141 thickened vaginal epithelium increased depth of the vaginal epithelial layer MP:0001142 abnormal vagina orifice morphology any structural anomaly of the median slit located inferior and posterior to the external urethral orifice in the female; the exit for menstrual flow and birth and the entrance for the penis during sexual intercourse; the size and appearance of the vaginal orifice varies inversely with that of the hymen (G. membrane), a thin fold of mucous membrane that surrounds the vaginal orifice MP:0001143 constricted vagina orifice shrunken, narrowed external median slit located inferior and posterior to the external urethral orifice in the female MP:0001144 vagina atresia imperforation or occlusion of the vagina, or adhesion of the walls of the vagina MP:0001145 abnormal male reproductive system morphology any structural anomaly of the organs associated with producing offspring in the gender that produces spermatozoa MP:0001146 abnormal testis morphology any structural anomaly of the male reproductive glands MP:0001147 small testis reduced size of the male reproductive glands MP:0001148 enlarged testis increased size of the male reproductive glands MP:0001149 testicular hyperplasia increase in the number of normal cells in normal arrangement in the testes, typically resulting in increased size MP:0001150 enlarged scrotum increased size of the external sac of skin that encloses the testes MP:0001151 enlarged foreskin increased size of the loose fold of skin that covers the penis MP:0001152 increased Leydig cell number increased number of the interstitial cells found adjacent to the seminiferous tubules in the testicle that produce testosterone in the presence of luteinizing hormone MP:0001153 small seminiferous tubules reduced diameter of the tubules in the testes where spermatogenesis occurs MP:0001154 seminiferous tubule degeneration a retrogressive impairment of function or destruction of the tubules in the testes where spermatogenesis occurs MP:0001155 arrest of spermatogenesis block of the process by which spermatogonial stem cells divide and differentiate into spermatozoa MP:0001156 abnormal spermatogenesis incomplete maturation or aberrant formation of the male gametes MP:0001157 small seminal vesicle reduced size of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens MP:0001158 abnormal prostate gland morphology any structural anomaly of the gland in males that secretes part of the seminiferous fluid MP:0001159 absent prostate gland missing gland in males that secretes part of the seminiferous fluid MP:0001163 abnormal prostate gland anterior lobe morphology any structural anomaly of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles MP:0001167 prostate gland epithelial hyperplasia epithelium is multi-layered instead of columnar and has increased cell number MP:0001168 abnormal prostate gland epithelium morphology any structural anomaly of the prostate epithelium MP:0001169 abnormal bulbourethral gland morphology any structural anomaly of any of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; they secrete a clear fluid known as pre-ejaculate (Cowper's fluid), and are homologous to the greater vestibular (Bartholin's) glands in the female MP:0001170 bulbourethral gland hyperplasia increase in the number of normal cells in normal arrangement in the bulbourethral gland, typically resulting in increased size MP:0001173 obsolete decreased number of ductal cells of the bulbourethral gland OBSOLETE. fewer than the normal number of cells found in the ducts through which the bulbourethral glands discharge mucus into the spongy part of the urethra MP:0001175 abnormal lung morphology any structural anomaly of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs MP:0001176 abnormal lung development anomaly in the process of formation of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs MP:0001177 atelectasis decrease or absent air in the entire or part of a lung, with resulting loss of lung volume, due to trauma, blockage or congenital defect MP:0001178 pulmonary hypoplasia decrease in the number of normal cells in normal arrangement in the lung, typically resulting in decreased size MP:0001179 thick pulmonary interalveolar septum increased width of the tissue intervening between two adjacent pulmonary alveoli, which consists of the basement membranes of alveolar-lining epithelium (mostly type I pneumocytes) and capillary endothelium MP:0001180 obsolete cellular infiltration of airway walls OBSOLETE. MP:0001181 absent lungs absence of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs MP:0001182 lung hemorrhage bleeding within the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs MP:0001183 overexpanded pulmonary alveolus expanded volume of one or more of the saclike terminal dilations of the respiratory bronchioles, alveolar ducts and alveolar sacs across which gas exchance occurs between alveolar air and the pulmonary capillaries MP:0001184 absent pulmonary alveoli absence of the saclike terminal dilation of the respiratory bronchioles, alveolar ducts and alveolar sacs across which gas exchance occurs between alveolar air and the pulmonary capillaries MP:0001186 pigmentation phenotype the observable morphological and physiological characteristics of mammalian organisms that are manifested through the deposition or aggregation of coloring matter in any tissue or cell of the organism MP:0001188 hyperpigmentation excess of pigment in any or all tissues or a part of a tissue MP:0001189 absent skin pigmentation lack of pigmentation of the skin MP:0001190 reddish skin skin has a more intense ruddy appearance than normal, often due to capillary congestion MP:0001191 abnormal skin condition any anomaly in the state or quality of the skin MP:0001192 scaly skin loss of the outer layer of the epidermis in thick, dry scale-like patches MP:0001193 psoriasis chronic skin lesions characterized by inflammation and silvery-scaly patches MP:0001194 dermatitis inflammation of the skin (redness and itching) caused by an allergic reaction or contact with an irritant MP:0001195 flaky skin shedding flakes on the skin MP:0001196 shiny skin skin with a glossy or glistening appearance MP:0001197 oily skin skin secreting an unusually high amount of oil, resulting in a glossy, shiny appearance MP:0001198 tight skin skin has a taut, stretched appearance MP:0001199 thin skin reduced thickness of the outer protective layer of the body MP:0001200 thick skin greater thickness of the outer protective layer of the body MP:0001201 translucent skin skin that is more transparent to light than normal MP:0001202 skin photosensitivity abnormally heightened reactivity of the skin to sunlight MP:0001203 increased sensitivity to skin irradiation increased incidence of aberrant or damaged cells due to irradiation induced genotoxic damage MP:0001204 decreased sensitivity to skin irradiation decreased incidence of aberrant or damaged cells due to irradiation induced genotoxic damage MP:0001208 blistering accumulation of fluid- filled thin walled structures under the epidermis or within the epidermis MP:0001209 spontaneous skin ulceration unpredictable appearance of skin lesions, usually with inflammation MP:0001210 skin ridges long raised strips of skin, usually aligned to the proximal-distal axis MP:0001211 wrinkled skin irregular folds and/or indentations on the skin MP:0001212 skin lesions focal pathological and/or inflammatory changes characterized by alteration in the size, shape and organization of the cellular components of the skin MP:0001213 abnormal skin cell number greater than or fewer than the expected numbers of cells in the cutis MP:0001214 skin hyperplasia increase in the number of normal cells in normal arrangement in the skin, typically resulting in increased thickness MP:0001215 skin hypoplasia decrease in the number of normal cells in normal arrangement in the skin, typically resulting in decreased size MP:0001216 abnormal epidermal layer morphology any structural anomaly of the superficial epithelial portion of the skin MP:0001217 absent epidermis missing the epidermal cell layer in the skin MP:0001218 thin epidermis reduced thickness of the superficial epithelial portion of the skin MP:0001219 thick epidermis increase in the width of the epidermal cell layer in the skin MP:0001220 epidermal necrosis morphological changes resulting from pathological death of the epidermal layer of skin; usually due to irreversible damage MP:0001221 epidermal atrophy acquired diminution of the size of epidermal layer of the skin, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0001222 epidermal hyperplasia increase in the number of normal cells in normal arrangement in the epidermis, typically resulting in increased thickness MP:0001224 abnormal keratinocyte apoptosis aberrant programmed cell death or anomaly in the number of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum MP:0001230 epidermal desquamation shedding of the cuticle of the epidermis in scales or shreds MP:0001231 abnormal epidermis stratum basale morphology any structural anomaly of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells MP:0001232 absent epidermis stratum basale absence of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells MP:0001233 abnormal epidermis suprabasal layer morphology any structural anomaly of the suprabasal layer of the epidermis MP:0001234 absent suprabasal layer absence of the suprabasal layer of the skin MP:0001235 disorganized suprabasal layer derangement of the pattern of the suprabasal layer of the skin MP:0001236 abnormal epidermis stratum spinosum morphology any structural anomaly of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance MP:0001237 enlarged spinous cells increased size of the immature keratinocytes of the spinous layer of the epidermis MP:0001238 thin epidermis stratum spinosum reduced thickness of the stratum spinosum; the polyhedral cell layer MP:0001239 abnormal epidermis stratum granulosum morphology any structural anomaly of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis MP:0001240 abnormal epidermis stratum corneum morphology any structural anomaly of the outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells MP:0001241 absent epidermis stratum corneum absence of the outer layer of the epidermis, composed of several layers of keratinized non-nucleated cells MP:0001242 hyperkeratosis thickening of the horny layer of the epidermis MP:0001243 abnormal dermal layer morphology any structural anomaly or atypical condition of the dermal layer of the skin MP:0001244 thin dermal layer reduced thickness of the dermis MP:0001245 thick dermal layer increased depth of the dermis MP:0001246 mixed cellular infiltration to dermis gradual accumulation of mixed cell types in the dermis that are not normally found there MP:0001247 dermal cyst presence of one or more abnormal membranous sacs in the dermis MP:0001248 obsolete absent connective tissue OBSOLETE. missing supporting framework of a tissue or the body; formed of fibrous or ground substance MP:0001249 obsolete absent dermal adipose tissue OBSOLETE. missing fat associated with the skin layers MP:0001251 dermis papillary layer hypercellularity increased cell density of the superficial layer MP:0001253 abnormal body height any anomaly in the shoulder to floor distance compared to controls MP:0001254 increased body height increased shoulder to floor distance compared to controls MP:0001255 decreased body height decreased shoulder to floor distance compared to controls MP:0001256 abnormal body length any anomaly in the measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction MP:0001257 increased body length increased measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction MP:0001258 decreased body length decreased measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction MP:0001259 abnormal body weight anomaly in average weight compared to controls MP:0001260 increased body weight greater than normal average weight MP:0001261 obese a status with body weight that is grossly above the average, acceptable or desirable weight, usually due to accumulation of excess fat tissue in the body MP:0001262 decreased body weight lower than normal average weight MP:0001263 weight loss progressive reduction of body weight below normal average for age MP:0001264 increased body size larger than average body weight, height and/or length of an organism compared to controls MP:0001265 decreased body size smaller than average body weight, height and/or length of an organism compared to controls MP:0001267 enlarged chest wider diameter, or distended chest cavity MP:0001268 barrel chest distended circumference of the thoracic and abdominal areas MP:0001270 distended abdomen abdomen appears curved outward or swollen MP:0001272 increased metastatic potential greater likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it MP:0001273 decreased metastatic potential reduced likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it MP:0001274 curly vibrissae coiled or spiral shape of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors MP:0001277 tangled vibrissae snarled or intertwined stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors MP:0001278 kinked vibrissae sharp bends in the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors MP:0001279 wavy vibrissae undulations or a sinusoidal shape of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors MP:0001280 loss of vibrissae inability to retain the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors MP:0001281 increased vibrissae length longer average length of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors MP:0001282 short vibrissae decreased length of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors MP:0001283 sparse vibrissae few and widely spaced stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors MP:0001284 absent vibrissae absence of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors MP:0001286 abnormal eye development malformation or arrest of differentiation of the visual organ MP:0001288 abnormal lens induction any anomaly in the signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens MP:0001289 persistence of hyaloid vascular system failure of the degeneration of the transient vascular system of the eye during development, that normally nourishes the retina, immature lens and primary vitreous of the developing eye MP:0001290 delayed eyelid opening late average time for the first postnatal eye opening MP:0001292 abnormal lens vesicle development malformation or abnormal patterning of the ectodermal invagination that forms opposite the optic cup in the primordium of the lens of the eye MP:0001293 anophthalmia absence of the globe and ocular tissue from the orbit, with or without the presence of ocular adnexa (eyelids, conjunctiva, and lacrimal apparatus); remnants of the globe sometimes appear in ectopic locations MP:0001296 macrophthalmia increased average size of the eyes MP:0001297 microphthalmia reduced average size of one or both eyes; generally refers to a congenital defect MP:0001299 abnormal eye distance/ position abnormal placement of the eyes in relation to each other or in relation to other craniofacial structures MP:0001300 ocular hypertelorism increased interpupillary distance, i.e. increased distance between the center of the pupils of the two eyes MP:0001301 obsolete abnormal eye movement OBSOLETE. MP:0001302 eyelids open at birth open eyes instead of closed at perinatal stage; failure of the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye to fuse completely together during development and an individual is born with the eye(s) uncovered leading to degrees of injury and blindness MP:0001303 abnormal lens morphology any structural anomaly of the transparent structure of the eye responsible for focusing light rays MP:0001304 cataract complete or partial opacity of the lens MP:0001305 enlarged lens increased size of the transparent structure of the eye responsible for focusing light rays MP:0001306 small lens reduced size of the transparent structure of the eye responsible for focusing light rays MP:0001307 fused cornea and lens condition in which the transparent anterior portion of the fibrous coat of the eye is joined to the transparent biconvex cellular refractive structure lying between the iris and vitreous humor of the eye MP:0001308 abnormal lens polarity failure of normal orientation of the lens during development MP:0001309 hydropic eye lens fibers swollen cortical fibers of the eye lens MP:0001310 abnormal conjunctiva morphology any structural anomaly of the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball MP:0001312 abnormal cornea morphology any structural anomaly of the transparent anterior portion of the fibrous coat of the eye that covers the iris, pupil, and anterior chamber; together with the lens, the cornea refracts light MP:0001313 increased incidence of corneal inflammation greater than average occurrence and/or persistence of the local accumulation of fluid, plasma proteins, and leukocytes in the cornea MP:0001314 cornea opacity complete or partial clouding of the cornea MP:0001316 cornea scarring appearance of fibrous tissue on the cornea after healing in response to injury MP:0001317 abnormal pupil morphology any structural anomaly of the central circular aperture of the iris through which light rays enter the eye MP:0001318 pupil opacity milky or cloudy appearance of the central circular aperture of the iris through which light rays normally enter the eye MP:0001319 irregularly shaped pupil shape defects in the aperture of the iris through which light rays enter the eye, usually circular MP:0001320 small pupil smaller than normal size of the central circular aperture of the iris through which light rays enter the eye MP:0001322 abnormal iris morphology any structural anomaly of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye MP:0001323 obsolete iris opacity OBSOLETE. milky or cloudy iris that is impervious to light MP:0001324 abnormal eye pigmentation change in the normal pigmentation of the eye to another color, or lack of color MP:0001325 abnormal retina morphology any structural anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors MP:0001326 retina degeneration retrogressive pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function MP:0001327 decreased retina photoreceptor cell number fewer than the expected number of rods and/or cones MP:0001328 disorganized retina layers derangement of the pattern of the sheets of cells comprising the optic part of the retina MP:0001329 retina hyperplasia increase in the number of normal cells in normal arrangement in the retina, typically resulting in increased size MP:0001330 abnormal optic nerve morphology any structural anomaly of the second cranial nerve which is responsible for conveying visual information from the retina to the brain; it extends from the retina to the optic chiasma where part of its fibers become the optic tract and cross to the opposite side and pass to the geniculate bodies MP:0001332 abnormal optic nerve innervation misprojection or aberrant target finding of the second cranial nerve which is responsible for conveying visual information from the retina to the brain MP:0001333 absent optic nerve absence of the second cranial nerve which is responsible for conveying visual information from the retina to the brain MP:0001334 absent optic tract absence of the band of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region MP:0001335 obsolete Subject to Infection OBSOLETE. MP:0001336 obsolete increased incidence of inflamed eyes OBSOLETE. greater than normal frequency of inflammatory response in the eyes MP:0001337 dry eyes absence of natural or normal moisture in the eye MP:0001340 abnormal eyelid morphology any structural anomaly of the skin folds covering the front of the eyeball MP:0001341 absent eyelids missing skin folds covering the front of the eyeball when closed MP:0001343 pronounced eyelids strongly protruding eyelids MP:0001344 blepharoptosis ptosis, drooping eyelids MP:0001345 Meibomian gland atrophy acquired diminution of the size of the sebaceous glands embedded in the tarsal plate of each eyelid, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0001346 abnormal lacrimal gland morphology any structural anomaly of the glands that secrete tears MP:0001347 absent lacrimal glands missing the glands that secrete tears MP:0001348 abnormal lacrimal gland physiology any functional anomaly of the glands that secrete tears MP:0001349 excessive tearing an unusually high amount of fluid in the eye, either oversecreted by the lacrimal glands, or due to imperfect drainage by the tear conducting passages, often resulting in overflow of fluid from the eye onto the cheek MP:0001353 increased aggression towards mice when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward other mice MP:0001354 increased aggression towards male mice when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward male mice MP:0001355 submission towards male mice no domineering, assault posture nor hostile physical action toward male mice MP:0001356 increased aggression towards female mice when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward female mice MP:0001357 increased aggression towards humans when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward humans MP:0001358 aggression towards inanimate objects a domineering, assault posture and/or hostile physical action toward inanimate objects MP:0001359 obsolete piling OBSOLETE. MP:0001360 abnormal social investigation altered behavior of animals to approach and examine conspecifics MP:0001361 social withdrawal reclusive behavior; the tendency to refrain from participating in social situations and to seek isolation MP:0001362 abnormal anxiety-related response altered emotional response related to anticipation of a non-specific threat MP:0001363 increased anxiety-related response when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests MP:0001364 decreased anxiety-related response when compared to controls, subjects exhibit fewer responses thought to be indicative of anxiety in behavioral tests MP:0001365 obsolete increased escape behavior induced by intruder mouse OBSOLETE. resident animals exhibit escape behavior and do not initiate social investigation of an intruder mouse MP:0001366 obsolete impaired stress response in porsolt forced swin test OBSOLETE. reduced freezing behavior resulting from failed escape attempts induced by forced swim in a small cylinder MP:0001373 obsolete Increased Fecundity OBSOLETE. MP:0001375 abnormal mating preference any change from the common preference of an initiating organism to initiate sexual contact with a receptive partner; in rodents, this usually refers to males that attempts to initiate sexual behavior with males and females indiscriminately MP:0001376 abnormal mating receptivity deviation from the normal cycle or inability of females to respond favorably to males that initiate sexual behavior MP:0001377 abnormal mating frequency increased, reduced or absent attempt of sexual behavioral contact between an initiating organism and a receptive partner MP:0001378 abnormal ejaculation anomalies in the ability to propulse semen from the genital ducts and the urethra to the exterior MP:0001379 abnormal penile erection altered ability to achieve a rigid state of the penis obtained in the condition in which the erectile tissue is filled with blood MP:0001380 reduced male mating frequency males do not as frequently initiate sexual behavior (as scored by the presence of copulation plugs in rodents, not due to infertility) MP:0001382 abnormal nursing females show anomlies in the feeding of offspring from mammary glands, or do not nurse offspring, or nurse offspring infrequently MP:0001384 abnormal pup retrieval any anomaly in the ability of a nesting female to retrieve stray pups to the nest or a delay in retrieving stray pups MP:0001385 pup cannibalization the killing and eating of newborn mice by the mother; however, this can be a normal response if the mother does not recognize the pups as her own MP:0001386 abnormal maternal nurturing anomaly in the behaviors related to a female tending to young MP:0001387 obsolete abnormal movement/ locomotion OBSOLETE. MP:0001388 abnormal stationary movement altered ability or inability to change body posture or shift a body part MP:0001389 abnormal eye movement deviation from the normal motility of the visual organs MP:0001391 abnormal tail movements a change from the normal manner of moving the tail MP:0001392 abnormal locomotor behavior altered ability or inability to move from place to place in response to stimuli MP:0001393 ataxia inability to coordinate voluntary muscular movements MP:0001394 circling repeated movement in a circle; often associated with inner ear defects MP:0001395 bidirectional circling circling behavior exhibited in both clockwise and counterclockwise directions MP:0001396 unidirectional circling circling behavior in one direction only, either clockwise or counterclockwise MP:0001398 obsolete backflips OBSOLETE. MP:0001399 hyperactivity general restlessness or excessive movement; more frequent movement from one place to another or having an increased state of activity MP:0001400 hyperresponsive increased reaction to touch MP:0001401 jumpy marked by fitful, jerky movements MP:0001402 decreased locomotor activity general reduction in locomotor activity; reduced movement from one place to another MP:0001404 no spontaneous movement failure of neonates or embryos to initiate any voluntary or spontaneous change in position or posture, with or without external stimulus MP:0001405 impaired coordination reduced ability to execute integrated movements of muscle MP:0001406 abnormal gait abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground MP:0001407 short stride length reduced average distance between steps MP:0001408 stereotypic behavior repetitive, invariant, perseverative motor patterns that do not appear to be purposeful MP:0001409 increased stereotypic behavior more frequent incidence of repetitive, invariant, perseverative motor patterns that do not appear to be purposeful MP:0001410 head bobbing repetitive up and down movement of the head MP:0001411 spinning repetitive rolling of the body MP:0001412 excessive scratching compulsive scraping of the skin, usually with the nails MP:0001413 abnormal response to new environment altered behavioral reaction associated with placing an animal in a new location MP:0001414 obsolete Increased Response to New Environment OBSOLETE. MP:0001415 increased exploration in new environment greater amount of time spent investigating new location MP:0001416 obsolete Decreased Response to New Environment OBSOLETE. MP:0001417 decreased exploration in new environment less amount of time spent investigating a new location MP:0001418 obsolete open field locomotion abnormalities OBSOLETE. MP:0001421 obsolete touch escape OBSOLETE. MP:0001422 abnormal drinking behavior an altered pattern of fluid consumption or altered preference for particular fluids MP:0001423 abnormal liquid preference the desire to drink more or less fluids than average, or to drink unusual fluids MP:0001424 obsolete abnormal water consumption OBSOLETE. drinking water in anomalous quantities MP:0001425 abnormal alcohol consumption aberrant behavioral-related or physiological-related intake of alcohol into the body MP:0001426 polydipsia abnormally large intake of fluids by mouth, usually due to excessive thirst that is relatively prolonged MP:0001428 adipsia failure to drink MP:0001429 dehydration excessive water loss from the body or from an organ or bodily part MP:0001431 abnormal eating behavior altered ability to consume foods or atypical consumption pattern MP:0001432 abnormal food preference the desire to eat more or less food than average, or to eat unusual foods MP:0001433 polyphagia eating to excess MP:0001435 absent suckling reflex inability to orient and open/close mouth in sucking pattern in response to external light touching or stroking of the chin MP:0001436 abnormal suckling behavior reduced ability or inability to exert suction by the mouth, or atypical suckling pattern MP:0001437 no swallowing reflex inability to pull food through the esophagus to the stomach in response to feeding MP:0001438 aphagia failure to eat MP:0001440 abnormal grooming behavior defects in the standard of behavior of cleaning and/or keeping outward appearance tidy (self, mate or offspring) MP:0001441 increased grooming behavior increased amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring) MP:0001442 decreased grooming behavior reduced amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring) MP:0001443 poor grooming below average standard of cleaning and/or keeping outward appearance tidy (self, mate or offspring) MP:0001444 obsolete compulsive biting OBSOLETE. MP:0001445 obsolete compulsive licking OBSOLETE. MP:0001446 abnormal whisker trimming behavior anomaly in the behavior of plucking or biting off of the whiskers/vibrissae from other individuals of a cohort MP:0001447 abnormal nest building behavior deviation from the usual behavior of nesting animals to build sleeping nests out of any available materials, or of nesting animals to build nests to protect offspring MP:0001448 obsolete abnormal mouse huddling behavior OBSOLETE:any anomaly in the the usual tendency of mice to pile together when sleeping MP:0001450 obsolete Altered Intelligence OBSOLETE. MP:0001451 obsolete Decreased Intelligence OBSOLETE. MP:0001452 obsolete Increased Intelligence OBSOLETE. MP:0001454 abnormal cued conditioning behavior anomaly in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash) MP:0001455 obsolete normal cued fear conditioning OBSOLETE. MP:0001456 obsolete impaired long term memory in cued fear conditioning test OBSOLETE. altered ability to recall an association between an auditory cue and a foot shock over time; measured by 'freezing' of animal in response to auditory cue MP:0001457 obsolete impaired long term memory in contextual fear test OBSOLETE. altered ability to recall an association between a location and a foot shock over time; measured by 'freezing' of animal in response to auditory cue MP:0001458 abnormal object recognition memory anomaly in the ability to recognize objects that the animal has previously encountered; recognition is measured by relative amount of time exploring objects, which should decrease upon subsequent or multiple presentations of the same object when presented with novel objects at the same time MP:0001459 obsolete impaired memory in novel object recognition test OBSOLETE. reduced time spent exploring a novel object that replaced a training object after a specified retention time MP:0001460 abnormal olfactory discrimination memory anomaly in the ability to exhibit a differential response to olfactory stimuli that is achieved by the reinforcement of the desired response for each particular olfactory stimulus MP:0001461 obsolete impaired memory in olfactory discrimination test OBSOLETE. reduced food preference based on food recently smelled on the breath of other individuals MP:0001462 abnormal avoidance learning behavior anomaly in the ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus MP:0001463 abnormal spatial learning anomaly in the ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues MP:0001464 obsolete impaired learning in eight arm radial maze test OBSOLETE. reduced ability to remember a sequence of previously visited feeding sites in an eight arm maze MP:0001465 obsolete morris water maze OBSOLETE. MP:0001468 abnormal temporal memory anomaly in the ability to recall temporal events and stimuli MP:0001469 abnormal contextual conditioning behavior anomaly in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case) MP:0001470 obsolete impaired long term memory in step-down avoidance test OBSOLETE. MP:0001471 obsolete large place fields OBSOLETE. MP:0001473 reduced long-term potentiation less than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells MP:0001475 reduced long-term depression less than the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of CA1 neurons MP:0001482 obsolete Increased Pupil Restriction OBSOLETE. MP:0001483 obsolete Decreased Pupil Restriction OBSOLETE. MP:0001485 abnormal pinna reflex anomaly in the response to an auditory stimulus by a characteristic ear twitch MP:0001486 abnormal startle reflex aberrant threshold or reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch MP:0001488 increased startle reflex reduced threshold or more severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch MP:0001489 decreased startle reflex greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch MP:0001490 abnormal vibrissae reflex animals do not change position in response to stimulation of the whiskers MP:0001491 unresponsive to tactile stimuli absence of reflex action normally induced by touch or pain MP:0001492 abnormal pilomotor reflex anomaly in the involuntary bristling of hairs that occurs when an organism is cold or experiences strong emotions such as fear or awe MP:0001496 audiogenic seizures a reflex seizure triggered by loud noises MP:0001499 abnormal kindling response any anomaly in the long-lasting epileptogenic changes normally induced by daily sub threshold electrical brain stimulation, often used as an induced model for epilepsy MP:0001500 decreased kindling response fewer epileptogenic changes normally induced by daily sub threshold electrical brain stimulation MP:0001501 abnormal sleep pattern deviation from the normal wake/sleep cycle MP:0001502 obsolete abnormal circadian rhythm deviation from the normal 24 hour biological activity cycle MP:0001503 obsolete abnormal strength/ posture OBSOLETE. MP:0001504 abnormal posture atypical intentionally or habitually assumed position of the limbs or carriage of the body MP:0001505 hunched posture stooped low with the limbs pulled in close to the body and arched back MP:0001506 limp posture lack of rigidity of the carriage of the body MP:0001507 obsolete positional passivity OBSOLETE. MP:0001508 obsolete abnormal body tone OBSOLETE. MP:0001509 obsolete abnormal body position OBSOLETE. MP:0001510 abnormal coat appearance anomaly in the visual aspect of the coat or hair MP:0001511 disheveled coat coat that looks generally unkempt MP:0001512 trunk curl posture of the trunk in a curled position MP:0001513 limb grasping mice clasp front and/or hind feet almost immediately upon being lifted by tail MP:0001514 obsolete abnormal footprint pathway OBSOLETE. MP:0001515 abnormal grip strength altered ability to grasp and hold objects, often measured as time spent hanging from an object or wire MP:0001516 abnormal motor coordination/balance altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium MP:0001522 impaired swimming reduced ability or inability to swim MP:0001523 impaired righting response reduced ability or greater amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position MP:0001524 impaired limb coordination reduced ability to organize limb movements to execute complex maneuvers, such as walking MP:0001525 impaired balance reduced ability of an animal to maintain equilibrium MP:0001526 abnormal placing response altered ability to stretch and lift the forelimbs and head to grab a close edge MP:0001527 athetotic walking movements characterized by slow, writhing involuntary movements of flexion, extension, pronation and supination of the paws and toes MP:0001529 abnormal vocalization an inability, decreased ability or altered ability to produce sound from the vocal organs; or a general increase or decrease in the production of vocal sound MP:0001530 obsolete Increased Vocalization OBSOLETE. MP:0001531 obsolete Decreased Vocalization OBSOLETE. MP:0001532 obsolete Physiology OBSOLETE. MP:0001533 abnormal skeleton physiology any functional anomaly of the bony framework of the body MP:0001539 decreased caudal vertebrae number reduced number of the bony segments of the tail or tail remnant MP:0001541 abnormal osteoclast physiology any functional anomaly of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue MP:0001542 abnormal bone strength change in the ability of bone to endure the application of force without yielding or breaking MP:0001544 abnormal cardiovascular system physiology any functional anomaly of the heart or vascular tissue MP:0001545 abnormal hematopoietic system physiology any functional anomaly of the fluid and/or its suspended elements that circulate(s) through the heart, arteries, capillaries, and veins MP:0001547 abnormal lipid level any anomaly in the concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body MP:0001548 hyperlipidemia abnormally high concentration of lipids in the circulating blood MP:0001552 increased circulating triglyceride level greater concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver MP:0001553 abnormal circulating free fatty acids level any anomaly in the blood concentrations of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues MP:0001554 increased circulating free fatty acids level higher than normal levels of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues MP:0001556 increased circulating HDL cholesterol level higher amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion MP:0001559 hyperglycemia abnormally high concentration of glucose in the blood; generally refers to a pathological state MP:0001560 abnormal circulating insulin level any anomaly in the blood concentration of the polypeptide hormone, secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids MP:0001562 abnormal circulating calcium level any anomaly in the concentration of calcium in the blood MP:0001565 abnormal circulating phosphate level any anomaly in the blood concentrations of the salt or ester of phosphoric acid MP:0001566 increased circulating phosphate level abnormally high concentrations of phosphates in the circulating blood MP:0001569 abnormal circulating bilirubin level any anomaly in the concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells MP:0001570 abnormal circulating enzyme level aberrant concentration in the blood of any of the proteins that act as catalysts for biological reactions MP:0001573 abnormal circulating alanine transaminase level aberrant concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2-ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction MP:0001574 abnormal oxygen level any anomaly in the concentration of the gaseous element that is essential for animal and plant life MP:0001575 cyanosis a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood MP:0001577 anemia less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs MP:0001584 obsolete platelet storage pool deficiency OBSOLETE. a blood coagulation disorder in which there is a decrease or lack of platelet dense bodies MP:0001585 hemolytic anemia deficiency of red cells resulting from an increased rate of erythrocyte destruction MP:0001586 abnormal erythrocyte cell number altered number of the cells that transport oxygen, red blood cells, per unit MP:0001588 abnormal hemoglobin defects in the levels or the function of the oxygen-carrying protein of erythrocytes MP:0001589 abnormal mean corpuscular hemoglobin anomalies in the average levels of hemoglobin contained in an erythrocyte MP:0001596 hypotension sustained low blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states MP:0001598 abnormal blood viscosity anomaly in the resistance to flow of the blood through the vessels MP:0001599 abnormal blood volume any anomaly in the amount of space occupied by the blood in the vessels MP:0001601 abnormal myelopoiesis anomaly in the process of, or atypical formation of myeloid cells from the pluripotent hematopoietic stem cells in the bone marrow from myeloid stem cells, including the production of leukocytes in blood, such as monocytes and granulocytes and precursor cells for macrophage and dendritic cells found in the lymphoid tissue MP:0001602 impaired myelopoiesis atypical process of bone marrow cell formation and/or the formation of bone marrow-derived blood cells with the result of fewer of these cells being formed MP:0001603 failure of myelopoiesis missing the process of bone marrow cell formation and/or the formation of bone marrow-derived blood cells MP:0001606 impaired hematopoiesis atypical process of blood cell formation with the result of fewer of these cells being formed MP:0001613 abnormal vasodilation anomaly in the physiological widening of the lumen of the blood vessels by relaxing the underlying vascular smooth muscle MP:0001614 abnormal blood vessel morphology any structural anomaly of the network of tubes that carries blood through the body MP:0001615 obsolete Decreased Vasculature OBSOLETE. MP:0001616 obsolete Increased Vasculature OBSOLETE. MP:0001619 abnormal vascular permeability anomaly in the ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases MP:0001622 abnormal vasculogenesis aberrant process of the initial establishment of the vascular network MP:0001625 cardiac hypertrophy an increase in size of the cardiac tissue, not due to increased cell number MP:0001627 abnormal cardiac output anomaly in the blood volume pumped by each ventricle per minute (stroke volume x heart rate) MP:0001629 abnormal heart rate greater than or fewer than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute MP:0001633 poor circulation insufficient movement of blood throughout the body, often manifesting in cold and/or pale skin MP:0001634 internal hemorrhage blood loss in the interior of the body due to vessel rupture or dysmorphology MP:0001636 irregular heartbeat uneven timing of heart contraction MP:0001637 obsolete cardiac arrest OBSOLETE. complete cessation of cardiac activity MP:0001641 obsolete death OBSOLETE. cessation of life; cessation of integrated tissue and organ functions; a gradual process at the cellular level MP:0001648 abnormal apoptosis excessive or absent cell death in a particular tissue or cell type MP:0001649 abnormal mandibular symphysis morphology any structural anomaly of the fibrocartilagenous union of the two halves of the mandible (embryonic stages) MP:0001650 abnormal seizure response to electrical stimulation anomaly in the seizure activity response that is brought about by high or low frequency electrical stimulation MP:0001651 obsolete necrosis pathological death of cells or a portion of a tissue or organ; usually due to irreversible damage MP:0001652 colonic necrosis morphological changes resulting from pathological death of some or all colon tissue; usually due to irreversible damage MP:0001653 gastric necrosis morphological changes resulting from pathological death of gastric tissue; usually due to irreversible damage MP:0001654 hepatic necrosis morphological changes resulting from pathological death of liver tissue; usually due to irreversible damage MP:0001655 multifocal hepatic necrosis morphological changes resulting from multiple localized areas of pathological death of liver tissue; usually due to irreversible damage MP:0001656 focal hepatic necrosis morphological changes resulting from one or more localized areas of pathological death of some or all liver tissue; usually due to irreversible damage MP:0001657 abnormal induced morbidity/mortality differences from the expected diseased state or death caused by an external intervention MP:0001658 increased mortality induced by gamma-irradiation greater sensitivity to doses of ionizing radiation MP:0001659 obsolete altered life span OBSOLETE. MP:0001661 extended life span persistence of life for a longer period than is normal for an organism MP:0001663 abnormal digestive system physiology any functional anomaly of the organ system that converts ingested food to nutrients and energy MP:0001664 abnormal digestion any anomaly of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism MP:0001665 chronic diarrhea prolonged diarrhea MP:0001666 abnormal intestinal absorption any anomaly in the quantity or rate of any nutrient taken up from the contents of the intestine MP:0001667 obsolete abnormal carbohydrate absorption any anomaly in the ability of the body to take in substances composed of carbon, hydrogen, and oxygen according to the general formula Cn(H2O)n; sugars and starches are examples MP:0001668 abnormal intestinal fructose absorption any anomaly in the ability of the small intestine to absorb fructose into the bloodstream MP:0001669 abnormal intestinal glucose absorption any anomaly in the ability of the small intestine to absorb glucose into the bloodstream MP:0001670 abnormal intestinal mineral absorption any anomaly in the ability of the body to take up inorganic substances that have importance in body functions into the blood by absorption from the small intestine MP:0001671 abnormal vitamin absorption any anomaly in the ability to take in any of a group of organic substances, present in food, that are essential to normal metabolism MP:0001672 abnormal embryo development anomaly in the establishment of the characteristic configuration of the embryonic body MP:0001674 abnormal germ layer development abnormal development of the three primary germ layers of the embryo MP:0001675 abnormal ectoderm development any abnormality in the formation of the outer of the three primary germ layers of the embryo (the others being mesoderm and endoderm) that originates in the epiblast and is formed during gastrulation; ectoderm is in contact with the amnionic cavity and gives rise to two distinct lineages, i.e. the surface ectoderm and the neural ectoderm; it is the source of Rathke's pouch and forms the central and peripheral nervous systems, the sensory epithelia of the eye, ear, and nose, the epidermis and its appendages (nails and hair), the mammary, pituitary and subcutaneous glands, the tooth enamel, and the mucous membranes of the mouth and anus MP:0001676 abnormal apical ectodermal ridge morphology any structural anomaly of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme MP:0001677 absent apical ectodermal ridge missing the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme MP:0001678 thick apical ectodermal ridge increase in the thickness of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme MP:0001679 thin apical ectodermal ridge decrease in the thickness of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme MP:0001680 abnormal mesoderm development failure or abnormality in the formation of the middle of the three primary germ layers of the embryo (the others being ectoderm and endoderm) during gastrulation; mesoderm is the origin of connective tissues, myoblasts, blood, the cardiovascular and lymphatic systems, most of the urogenital system, and the lining of the pericardial, pleural, and peritoneal cavities MP:0001683 absent mesoderm absence of the middle of the three primary germ layers of the embryo (the others being ectoderm and endoderm) during gastrulation; mesoderm is the origin of connective tissues, myoblasts, blood, the cardiovascular and lymphatic systems, most of the urogenital system, and the lining of the pericardial, pleural, and peritoneal cavities MP:0001684 abnormal axial mesoderm morphology failure or abnormality in the formation of part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord MP:0001685 abnormal endoderm development any abnormality in the formation of the innermost of the three primary germ layers of the embryo (the others being mesoderm and ectoderm) during gastrulation; endoderm gives rise to the epithelial lining of the gastrointestinal and respiratory tracts; the parenchyma of the tonsils, the liver, the thymus, the thyroid, the parathyroids, and the pancreas; the epithelial lining of the urinary bladder, urethra, and prostate; and the epithelial lining of the tympanic cavity, tympanic antrum, and auditory tube MP:0001687 thin endoderm reduced thickness of the innermost germ layer of the embryo MP:0001688 abnormal somite development any anomaly in the formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo; somites are transient structures - balls or blocks of paraxial mesoderm cells with an epithelial outer layer and a mesenchymal cell core - that emerge sequentially through a mesenchymal-to-epithelial transition (MET) from the morphologically unpatterned presomitic mesoderm; they give rise to the metameric anatomy of the vertebral column itself, and the associated skin, muscle and tendons MP:0001689 incomplete somite formation arrest of differentiation or patterning of the somites MP:0001690 failure of somite differentiation disorganized or absent somite tissue or somite pattern in development MP:0001691 abnormal somite shape anomaly in the characteristic surface outline or contour of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo MP:0001693 failure of primitive streak formation inability to form the epiblast ridge from which arises the germ layers of the embryo MP:0001694 absent egg cylinders inability of inner cell mass cells to grow towards the abembryonic pole to form a cylinder-like structure MP:0001695 abnormal gastrulation any anomaly in the development and invagination of the embryonic germ layers MP:0001696 failure to gastrulate inability to differentiate and invaginate the primary germ layers MP:0001697 abnormal embryo size any anomaly in the proportions of embryo compared to littermates (sensu Mus: up to E14, or the completion of organogenesis) MP:0001698 decreased embryo size smaller proportions of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis) MP:0001699 increased embryo size larger proportions of embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis) MP:0001700 abnormal embryo turning atypical axial rotation of the germ layers of the embryo during the primitive streak/early somite stage during which the curvature of the entire trunk region is normally reversed and the neural ectoderm moves to the convex region and the midgut region becomes located in the concave region MP:0001701 incomplete embryo turning arrest of the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage MP:0001704 abnormal dorsal-ventral axis patterning anomaly in the development or formation of the axis that runs from the front to the back surface of the body MP:0001705 abnormal proximal-distal axis patterning anomaly in the formation or development of a body structure, often a limb, in relation to the structure's proximity to the trunk or point of origin MP:0001706 abnormal left-right axis patterning anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ MP:0001710 absent amniotic folds failure of the amnion to form involutions MP:0001711 abnormal placenta morphology any structural anomaly of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin MP:0001712 abnormal placenta development malformed or incomplete differentiation of the organ of metabolic exchange between the fetus and mother MP:0001713 decreased trophoblast giant cell number fewer than normal number of cells of the extraembryonic cell layer that contributes to the placenta MP:0001714 absent trophoblast giant cells missing cells of the extraembryonic cell layer that contribute to the placenta MP:0001715 placental labyrinth hypoplasia decrease in the number of normal cells in normal arrangement in the placental labyrinth, typically resulting in decreased size MP:0001716 abnormal placenta labyrinth morphology any structural anomaly of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood, and is the site where the exchange of nutrients and waste products occurs between the maternal and fetal circulation MP:0001717 absent ectoplacental cone missing the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta MP:0001718 abnormal visceral yolk sac morphology any structural anomaly of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo; the yolk that it contains is the site of embryonic hematopoiesis and vitelline circulation is involved in early embryonic circulation; it is the origin of the primordial germ cells MP:0001719 absent vitelline blood vessels absence of the vascular network that supplies the yolk sac MP:0001720 obsolete excessive surface folding OBSOLETE. MP:0001721 absent visceral yolk sac blood islands absence of the masses of developing blood cells attached to endothelium in the yolk sac MP:0001722 pale yolk sac bloodless yolk sac MP:0001723 disorganized yolk sac vascular plexus derangement in the pattern of the primary (honeycomb-like) vasculature of the yolk sac prior to remodeling into a mature vascular network MP:0001724 abnormal extraembryonic endoderm formation malformation of the derivative of the hypoblast cells that migrate into the blastocyst cavity, and line the cavity, giving rise to the primary and definitive yolk sacs; the extraembryonic endoderm fills the remaining cavity of the blastocyst MP:0001725 abnormal umbilical cord morphology any structural anomaly of the connective stalk between the fetus and the placenta MP:0001726 abnormal allantois morphology any structural anomaly fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels MP:0001727 abnormal embryo implantation anomaly in the process in which the blastocyst and/or the uterine environment to successfully synchronize allowing attachment of the blastocyst to the epithelial lining of the uterus, its penetration through the epithelium and any subsequent physiological interactions necessary to sustain embryonic development MP:0001728 failure of embryo implantation inability of the blastocyst and/or the uterine environment to successfully synchronize allowing attachment of the blastocyst to the epithelial lining of the uterus, its penetration through the epithelium and any subsequent physiological interactions necessary to sustain embryonic development MP:0001729 impaired embryo implantation impaired ability of the blastocyst and/or the uterine environment to successfully synchronize allowing attachment of the blastocyst to the epithelial lining of the uterus, its penetration through the epithelium and any subsequent physiological interactions necessary to sustain embryonic development MP:0001730 embryonic growth arrest the cessation of development beyond a particular stage MP:0001731 abnormal postnatal growth anomaly in reaching a developmental stage or stages after birth MP:0001732 postnatal growth retardation slow or limited development after birth MP:0001734 obsolete abnormal endocrine organ OBSOLETE. any structural anomaly of any of the glands that have no ducts, their secretions being absorbed directly into the blood MP:0001739 abnormal adrenal gland secretion altered ability of the surparenal gland to produce or secrete hormones MP:0001740 failure of adrenal epinephrine secretion inability of adrenal gland to deliver epinephrine into the blood stream MP:0001741 obsolete decreased adrenaline synthesis OBSOLETE. less than the normal formation of this catecholamine hormone that stimulates the adrenergic receptors MP:0001742 absent circulating adrenaline absence in the circulation of a catecholamine hormone that stimulates the adrenergic receptors and causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels MP:0001743 absent circulating noradrenaline absence of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine MP:0001744 hypersecretion of corticosterone increased release of this adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion MP:0001745 increased circulating corticosterone level greater than the normal blood amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion MP:0001746 abnormal pituitary secretion anomaly in the production and/or release of biologically active substances from pituitary tissue MP:0001747 hypersecretion of adrenocorticotropin increased release of this pituitary hormone from the pituitary gland that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex MP:0001748 increased circulating adrenocorticotropin level elevated concentration in the blood of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex MP:0001749 suppressed circulating follicle stimulating hormone level repression of secretion into the blood of FSH, the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis MP:0001750 increased circulating follicle stimulating hormone level higher than normal levels in the blood stream of FSH, the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis MP:0001751 increased circulating luteinizing hormone level higher than the normal levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary MP:0001752 abnormal hypothalamus secretion altered ability of the hypothalamus to produce or release biologically active substances MP:0001753 hypersecretion of corticotropin-releasing hormone excessive release of this factor, which normally stimulates the pituitary to release adrenocorticotropic hormone, from the hypothalamus MP:0001754 increased circulating corticotropin-releasing hormone level higher than average amount of CRH in blood; CRH is normally released by the hypothalamus and stimulates the release of corticotropin by the anterior pituitary gland MP:0001755 obsolete abnormal excretion physiology OBSOLETE. MP:0001756 abnormal urination anomaly in the process in which parasympathetic nerves stimulate the bladder wall muscle to contract resulting in the expulsion of urine from the body MP:0001758 abnormal urine glucose level any change in the amount of glucose in the urine MP:0001759 increased urine glucose level a greater amount of glucose in the urine compared to the normal state MP:0001760 abnormal urine enzyme level any change in the level of enzymes in the urine MP:0001761 abnormal urination pattern increased or decreased frequency of urination episodes, or extended periods of anuria MP:0001762 polyuria increased volume of urine produced and excreted MP:0001763 obsolete Infrequent Urination OBSOLETE. MP:0001764 abnormal homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the fluids and tissues MP:0001765 abnormal ion homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of charged molecules in the fluids and tissues MP:0001766 obsolete abnormal aluminum level OBSOLETE. MP:0001770 abnormal iron level any anomaly in the concentrations of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins and is an essential component of enzymes such as catalase, peroxidase, and various cytochromes MP:0001771 abnormal circulating magnesium level any anomaly in the blood concentration of magnesium MP:0001775 abnormal selenium level any anomaly in the concentration of selenium, which is required for glutathione peroxidase and other enzymes MP:0001776 abnormal circulating sodium level any anomaly in the concentration in the blood of sodium, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume MP:0001777 abnormal body temperature homeostasis any anomaly in the process in which an organism modulates or maintains its internal body temperature MP:0001778 abnormal brown adipose tissue amount anomaly in the amount of the thermogenic form of adipose tissue that is composed of brown adipocytes MP:0001780 decreased brown adipose tissue amount reduced quantity of the thermogenic form of adipose tissue that is composed of brown adipocytes MP:0001781 abnormal white adipose tissue amount anomaly in the quantity of the white fat-storing cells/tissue MP:0001783 decreased white adipose tissue amount reduced quantity of fat-storing cells/tissue MP:0001784 abnormal fluid regulation any anomaly in the control of intracellular and/or extracellular fluid MP:0001785 edema an accumulation of an excessive amount of watery fluid in cells or intercellular tissues MP:0001786 skin edema accumulation of an excessive amount of fluid in the skin layers or just underneath the skin MP:0001787 pericardial edema accumulation of watery fluid in the pericardial sac of the heart MP:0001788 periorbital edema accumulation of an excessive amount of fluid in the area around the orbit MP:0001790 abnormal immune system physiology deviation from the normal function of the immune system MP:0001791 obsolete immunodeficiency OBSOLETE. defective immune response; can be primary due to defect in immune system or secondary due to disease MP:0001792 impaired wound healing reduced ability or inability to self-repair and close wounds MP:0001793 abnormal susceptibility to infection a change in the likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens MP:0001794 obsolete Bacterial OBSOLETE. MP:0001795 obsolete Gram Negative OBSOLETE. MP:0001796 obsolete Gram Positive OBSOLETE. MP:0001797 obsolete Opportunistic Infections of the Intestinal Tract OBSOLETE. MP:0001798 impaired macrophage phagocytosis reduced ability of macrophage phagocytic cells to internalize particulate matter MP:0001799 obsolete Viral OBSOLETE. MP:0001800 abnormal humoral immune response any functional anomaly of the aspect of immunity that is mediated by secreted antibodies produced in the cells of the B lymphocyte lineage (B cell) and the accessory processes that accompany it, including Th2 activation and cytokine production, germinal center formation and isotype switching, affinity maturation and memory cell generation; it also refers to the effector functions of antibody, which include pathogen and toxin neutralization, classical complement activation, and opsonin promotion of phagocytosis and pathogen elimination MP:0001802 arrested B cell differentiation inability to produce mature B cells, and accumulation of B cell precursors MP:0001804 obsolete abnormal complement protein physiology OBSOLETE. functional anomaly of any of the complement proteins MP:0001805 decreased IgG level less than normal immunoglobulin class G level MP:0001806 decreased IgM level less than normal immunoglobulin class M level MP:0001807 decreased IgA level less than normal immunoglobulin class A level MP:0001808 obsolete B cell Immunodeficiency OBSOLETE. MP:0001809 obsolete Abnormal Immunoglobulin Production OBSOLETE. MP:0001817 obsolete abnormal antibody production OBSOLETE. MP:0001818 obsolete abnormal antibody titer OBSOLETE. MP:0001819 abnormal immune cell physiology any functional anomaly of the cells of the immune system MP:0001820 obsolete abnormal activated B cell number OBSOLETE. MP:0001823 thymus hypoplasia decrease in the number of normal cells in normal arrangement in the thymus, typically resulting in decreased size MP:0001824 abnormal thymus involution premature or late decline in thymic function normally associated with advancing age MP:0001825 arrested T cell differentiation failure of T cell formation to proceed past a defined stage MP:0001828 abnormal T cell activation anomaly in the process of producing effector T cells from naive T cells MP:0001829 increased activated T cell number greater than normal numbers of effector T cells MP:0001830 decreased activated T cell number reduced numbers of effector T cells MP:0001831 obsolete T cell immunodeficiency OBSOLETE.defective immune response due to defective T-lymphocyte response MP:0001832 obsolete CD4-Positive cell immunodeficiency OBSOLETE. MP:0001833 obsolete CD8- Positive cell immunodeficiency OBSOLETE. MP:0001834 obsolete macrophage immunodeficiency/impairment OBSOLETE. MP:0001835 abnormal antigen presentation aberration in the process by which by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex MP:0001836 abnormal antigen presentation via MHC class I anomaly in the process by which peptide, bound to major histocompatibility complex class I, is presented to lymphocytes at the surface of antigen presenting cells MP:0001837 defective assembly of class I molecules impaired production of major histocompatibility complex class I molecules MP:0001838 defective intracellular transport of class I molecules impaired ability to move major histocompatibility complex class I molecules to the cell surface MP:0001839 abnormal level of surface class I molecules deviation from the normal concentration of major histocompatibility complex class I molecules expressed at the cell surface MP:0001840 increased level of surface class I molecules greater than normal expression of major histocompatibility complex class I molecules at the cell surface MP:0001841 decreased level of surface class I molecules reduced expression of major histocompatibility complex class I molecules at the cell surface MP:0001842 obsolete inability to present cytosolic antigens to Class-I restricted cytotoxic T cells OBSOLETE. MP:0001844 autoimmune response condition in which cells and/or antibodies arise from and are directed against one's own tissues MP:0001845 abnormal inflammatory response aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues MP:0001846 increased inflammatory response greater than expected response to injury, infection, or insult MP:0001847 brain inflammation local accumulation of fluid, plasma proteins, and leukocytes in the brain MP:0001848 choroid inflammation local accumulation of fluid, plasma proteins, and leukocytes in the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera MP:0001849 ear inflammation local accumulation of fluid, plasma proteins and leukocytes in the ear MP:0001850 increased susceptibility to otitis media greater likelihood of middle ear inflammation, with an accumulation of a thick, mucous-like fluid; usually associated with a viral or bacterial respiratory infection MP:0001851 eye inflammation local accumulation of fluid, plasma proteins, and leukocytes in the eye MP:0001852 conjunctivitis inflammation of the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball MP:0001853 heart inflammation local accumulation of fluid, plasma proteins, and leukocytes in the heart MP:0001854 atrial endocarditis inflammation affecting the atrial chambers of the heart MP:0001855 abnormal atrial thrombosis any anomaly in the formation or presence of one or more thrombi in the atria of the heart MP:0001856 myocarditis inflammation of the heart walls MP:0001857 pericarditis inflammation of the pericardium, the fibroserous sac surrounding the heart and the roots of the great vessels MP:0001858 intestinal inflammation local accumulation of fluid, plasma proteins, and leukocytes in the intestine MP:0001859 kidney inflammation local accumulation of fluid, plasma proteins, and leukocytes in the kidney MP:0001860 liver inflammation local accumulation of fluid, plasma proteins, and leukocytes in the liver MP:0001861 lung inflammation local accumulation of fluid, plasma proteins, and leukocytes in the lung MP:0001862 interstitial pneumonia any of a group of inflammatory and fibrotic disorders of the lower respiratory tract, primarily affecting the supporting framework of the lung, including the alveolar wall, but may also involve the small airways and blood vessels of the lung parenchyma MP:0001863 blood vessel inflammation local accumulation of fluid, plasma proteins, and leukocytes in a blood vessel MP:0001864 vascular inflammation inflammation of any blood and/or lymphatic vessel MP:0001866 nasal inflammation local accumulation of fluid, plasma proteins, and leukocytes in the proximal portion of the respiratory passages MP:0001867 rhinitis inflammation of the mucous membrane of the nose MP:0001868 ovary inflammation local accumulation of fluid, plasma proteins, and leukocytes in the ovary MP:0001869 pancreas inflammation local accumulation of fluid, plasma proteins, and leukocytes in the pancreas MP:0001870 salivary gland inflammation local accumulation of fluid, plasma proteins, and leukocytes in one or more salivary glands MP:0001872 sinus inflammation increase in susceptibility of the hollow cavities in bone (usually but not exclusively those in the skull) to allergens and/or pathogens MP:0001873 stomach inflammation local accumulation of fluid, plasma proteins, and leukocytes in the stomach MP:0001874 acanthosis diffuse hyperplasia of the spinous layer of the skin MP:0001875 testis inflammation local accumulation of fluid, plasma proteins, and leukocytes in the testis MP:0001876 decreased inflammatory response less than expected response to injury, infection, or insult MP:0001877 obsolete dysregulated inflammatory response OBSOLETE. MP:0001879 abnormal lymphatic vessel morphology any structural anomaly of any component of the network of vessels that carries lymph around the body MP:0001881 abnormal mammary gland physiology any functional anomaly of the compound, alveolar and apocrine milk-secreting gland that lies within the breast MP:0001882 abnormal lactation atypical production of milk from the mammary gland MP:0001883 increased mammary adenocarcinoma incidence higher than normal incidence of malignant tumors of the mammary gland MP:0001884 mammary gland alveolar hyperplasia increase in the number of normal cells in normal arrangement in the mammary gland alveoli, typically resulting in increased size MP:0001885 mammary gland duct hyperplasia increase in the number of normal cells in normal arrangement in the mammary gland ducts, typically resulting in increased size MP:0001886 obsolete nervous system physiology abnormalities OBSOLETE. MP:0001889 delayed brain development the delay or slower progress of the growth and differentiation of the brain MP:0001890 anencephaly anomaly that occurs when the anterior neuropore of the neural tube fails to close, resulting in the congenital partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp; in affected organisms, the forebrain remains in contact with the amniotic fluid and subsequently degenerates, including the cerebrum (areas responsible for cognition); any remaining brain tissue, such as the brain stem, is often exposed MP:0001891 hydrocephaly excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma MP:0001893 non-obstructive hydrocephaly abnormal cerebrospinal fluid absorption where there is no obstruction to fluid flow in the ventricular system MP:0001895 obsolete abnormal hippocampus function OBSOLETE. any anomaly in the activity of the deep lying structure of the cerebrum involved with memory storage MP:0001898 abnormal long-term depression change from the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of neurons MP:0001899 absent long-term depression lack of the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of CA1 neurons MP:0001900 impaired synaptic plasticity decrease or inability of a synapse to change its strength as a result of successive activations MP:0001901 absence of NMDA-mediated synaptic currents absence of a measured amplitude, current density or duration of response to stimulation of NMDA receptors MP:0001902 reduced NMDA-mediated synaptic currents reduction in the measured amplitude, current density or duration of response to stimulation of NMDA receptors MP:0001903 obsolete reduced NMDA receptor glycine affinity: hippocampus OBSOLETE. MP:0001904 obsolete impaired GABA receptor mediated fast inhibition OBSOLETE. MP:0001905 abnormal dopamine level greater or less than the normal amount of this catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary MP:0001906 increased dopamine level greater than the normal amount of dopamine, a catecholamine neurotransmitter and neurohormone that is derived from tyrosine and is the precursor to norepinephrine and epinephrine; it functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary MP:0001907 obsolete abnormal cerebellar function OBSOLETE. any anomaly in the activity of the portion of the brain in the back of the head between the cerebrum and the pons that controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills MP:0001908 abnormal somatosensory cortex physiology any functional anomaly of the area of the parietal lobe that lies posterior to the central sulcus and is concerned with receiving and processing general sensations from the body surface MP:0001909 reduced NMDA receptor mediated synaptic activity in barrel cortex lower than normal levels of excitatory synaptic current in the barrel cortex MP:0001911 abnormal cerebrospinal fluid production anomaly in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord MP:0001912 increased cerebrospinal fluid production increase in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord MP:0001913 decreased cerebrospinal fluid production reduction in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord MP:0001914 hemorrhage loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels MP:0001915 intracranial hemorrhage bleeding within the skull, including hemorrhage into the brain and within the cranial epidural, subdural, and subarachnoid spaces MP:0001916 intracerebral hemorrhage bleeding within the cerebrum MP:0001917 intraventricular hemorrhage bleeding into the brain ventricles MP:0001919 abnormal reproductive system physiology any functional anomaly of the organs associated with producing offspring MP:0001921 reduced fertility diminished physiological ability to produce live offspring MP:0001922 reduced male fertility reduced physiological ability of a male organism to produce live offspring MP:0001923 reduced female fertility reduced physiological ability of a female organism to produce live offspring MP:0001924 infertility physiological inability to produce live offspring MP:0001925 male infertility physiological inability of a male organism to produce live offspring MP:0001926 female infertility physiological inability of a female organism to produce live offspring MP:0001927 abnormal estrous cycle failure of progression or aberrant timing of the regular female reproductive cycle of non-primate placental mammals that is under hormonal control and includes a period of heat (mating receptivity), followed by ovulation and complex changes in the reproductive tract, followed by reabsorption of the endometrium if pregnancy does not occur MP:0001928 abnormal ovulation aberration in the release of an ovum from a rupturing Graafian follicle, normally regulated by a surge in luteinizing hormone MP:0001929 abnormal gametogenesis defective formation or differentiation of germ cells MP:0001930 abnormal meiosis anomaly in the process of nuclear division that results in gametes with one half the normal number of the original cell MP:0001931 abnormal oogenesis atypical formation or failure to form the female germ cells MP:0001932 abnormal spermiogenesis anomaly in the process by which a spermatid transforms into a functional spermatozoon MP:0001933 abnormal litter size deviation from the normal number of live born pups in a litter MP:0001934 increased litter size greater numbers of live born pups in a litter compared to average MP:0001935 decreased litter size fewer live born pups in a litter compared to average MP:0001937 abnormal sexual maturation a delay or a block in the development of the sexual organs at a given age MP:0001938 delayed sexual maturation immaturity of the sexual organs at a given age MP:0001939 secondary sex reversal secondary sexual phenotype is not consistent with the chromosomal sex, i.e., internal and/or external genitalia are inconsistent with chromosomal sex MP:0001940 testis hypoplasia decrease in the number of normal cells in normal arrangement in the testis, typically resulting in decreased size MP:0001942 abnormal lung volume anomaly in the amount of air that the lungs contain at various points of the respiratory cycle MP:0001943 abnormal respiration anomaly in the movement of gases into and out of the lung MP:0001944 abnormal pancreas morphology any structural anomaly of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MP:0001945 bronchoconstriction reduction in the caliber of the bronchus or bronchi MP:0001947 abnormal mucociliary clearance anomaly in the mechanism that removes mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands MP:0001948 vesicoureteral reflux the retrograde flow of urine from the bladder into the ureters and kidneys MP:0001949 obsolete abnormal respiratory dead space OBSOLETE. anomaly in the section of the respiratory tract that does not exchange oxygen and carbon dioxide with pulmonary capillary blood MP:0001950 abnormal respiratory sounds any anomaly in the noises heard over any part of the respiratory tract MP:0001951 abnormal breathing pattern irregular or atypical breathing pattern, or absence of breathing MP:0001952 increased airway responsiveness more easily provoked into bronchoconstriction in bronchial provocation tests MP:0001953 respiratory failure cessation of or failure to commence breathing MP:0001954 respiratory distress physical difficulty or impaired ability to breathe; signs include: shortness of breath, labored breathing, gasping, increased work of breathing, inadequate respiratory effort, and/or irregular breathing MP:0001956 hypopnea breathing that is shallower and/or slower than normal MP:0001957 apnea temporary cessation of breathing; sometimes episodic MP:0001958 emphysema an abnormal condition of the lung characterized by permanent enlargement of airspaces distal to the terminal bronchioles, accompanied by destruction of their walls and without obvious fibrosis; results in decreased respiratory function including increased air retention and reduced exchange of gases MP:0001959 obsolete sensory system physiology/response abnormalities OBSOLETE. MP:0001961 abnormal reflex anomaly in an involuntary response to a peripheral stimulus MP:0001963 abnormal hearing physiology any functional anomaly in the ability to perceive auditory stimuli MP:0001964 obsolete abnormal auditory threshold OBSOLETE. change in the average point at which one may first detect electrical activity generated by neurons in the ascending auditory system by using computer-averaged responses to short tone bursts at varying frequency MP:0001965 obsolete increased auditory threshold OBSOLETE. a greater than average point at which one may first detect electrical activity generated by neurons in the ascending auditory system by using computer-averaged responses to short tone bursts at varying frequency MP:0001966 obsolete decreased auditory threshold OBSOLETE. a lower than average point at which one may first detect electrical activity generated by neurons in the ascending auditory system by using computer-averaged responses to short tone bursts at varying frequency MP:0001967 deafness inability to hear; the ability to detect and/or recognize certain frequencies of sound is completely impaired MP:0001968 abnormal touch/ nociception change in the ability to sense contact with objects or in the ability to sense pain, most often registered by mechanoreceptors in the skin and mucous membranes MP:0001970 abnormal pain threshold increased or decreased average level of perception of pain MP:0001973 increased thermal nociceptive threshold a greater than average point at which thermal pain sensation is first detectable MP:0001974 obsolete toe pinch OBSOLETE. MP:0001975 obsolete tail pinch OBSOLETE. MP:0001977 obsolete tail flick OBSOLETE. MP:0001978 obsolete prolonged latency in tail flick test OBSOLETE. MP:0001980 abnormal chemically-elicited antinociception change in the analgesic effect of chemical substances MP:0001981 increased chemically-elicited antinociception greater than the normal analgesic effect of chemical substances MP:0001982 decreased chemically-elicited antinociception less than the normal analgesic effect of chemical substances MP:0001983 abnormal olfactory system physiology any functional anomaly of the system relating to smell MP:0001984 abnormal olfaction anomaly in the ability to smell MP:0001985 abnormal gustatory system physiology any functional anomaly in the perception of taste MP:0001986 abnormal taste sensitivity changes in the ability to perceive a particular flavor(s) or suggestion of something imparting a flavor by the chemoreceptors of the gustatory system MP:0001987 alcohol preference predilection to ingest alcohol over other substances MP:0001988 cocaine preference predilection to ingest cocaine over other substances MP:0001989 obsolete saccharin versus water OBSOLETE. MP:0001990 obsolete water versus saccharin OBSOLETE. MP:0001993 abnormal blinking anomaly in the normal reflex of closing the eyes frequently and rapidly MP:0001994 increased blinking frequency greater number of occurrences of the normal reflex of closing the eyes frequently and rapidly MP:0001995 decreased blinking frequency reduced number of occurrences of the normal reflex of closing the eyes frequently and rapidly MP:0001997 obsolete Increased Pupil Constriction OBSOLETE. MP:0001998 obsolete Decreased Pupil Constriction OBSOLETE. MP:0001999 photosensitivity alterations in the response to sunlight or UV irradiation, especially sensitivity of the eyes MP:0002001 blindness loss of the sense of sight MP:0002002 obsolete abnormal response to visual cliff OBSOLETE. MP:0002003 miotic pupil decreased diameter of one or both pupils due to abnormal constriction of the muscles of the iris MP:0002006 neoplasm the observable morphological and physiological characteristics of a benign or malignant tissue growth resulting from uncontrolled cell proliferation in a mammalian organism that are manifested through development and lifespan MP:0002007 increased cellular sensitivity to gamma-irradiation increased incidence of cell death following exposure to gamma-irradiation MP:0002009 preneoplasia state preceding the pathological process resulting in a neoplasm; does not necessarily imply cancerous development MP:0002010 obsolete hepatic microgranulomas OBSOLETE. MP:0002012 increased trichofolliculoma incidence greater than the expected number of dome-shaped hamartoma tumors which contain multiple abortive and/or misaligned hair follicles MP:0002013 increased pilomatricoma incidence greater than the expected number of neoplasms that arise from hair matrix cells occurring in a specific population in a given time period; pilomatricoma is an encapsulated tumor containing irregularly shaped, lobules of cells separated by fibrovascular connective tissue stroma; two distinct cell populations comprise this tumor, basaloid cells with scant cytoplasm located towards the periphery and the ghost (or shadow) cells occupying the central portion MP:0002014 increased papilloma incidence greater than the expected number of benign tumors consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic epithelial cells occurring in a specific population in a given time period MP:0002015 epithelioid cyst presence of one or more abnormal membranous sacs in an epithelium MP:0002016 ovary cyst presence of one or more fluid-filled membranous sacs within the ovary MP:0002018 increased malignant tumor incidence higher than normal incidence of locally invasive, destructive and metastatic tumors MP:0002019 abnormal tumor incidence deviation from the expected number of abnormal growths in a specific population MP:0002020 increased tumor incidence greater than the expected number of neoplasms in a specific population in a given time period, usually of a specific type MP:0002021 increased incidence of induced tumors higher than normal frequency of tumor incidence induced by a carcinogen, mutagen or virus MP:0002023 increased B cell derived lymphoma incidence higher than normal incidence of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes MP:0002024 increased T cell derived lymphoma incidence higher than normal incidence of a group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes MP:0002025 obsolete B cell/T cell derived lymphoma OBSOLETE. group of heterogeneous lymphoid tumors representing malignant transformations of both B-lymphocytes and T-lymphocytes MP:0002026 increased leukemia incidence higher than normal incidence of a cancer characterized by progressive proliferation of abnormal leukocytes in hematopoietic tissues, organs and blood MP:0002027 increased lung adenocarcinoma incidence greater than the expected number of a malignant neoplasm of epithelial cells in the lung, usually with a glandular organization, occurring in a specific population in a given time period MP:0002030 increased neurofibrosarcoma incidence greater than the expected number of a highly aggressive malignant neoplasm arising from the fibrous connective tissue surrounding peripheral nerves, in a specific population in a given time period MP:0002031 increased adrenal gland tumor incidence greater than the expected number of neoplams in the adrenal gland occurring in a specific population in a given time period MP:0002032 increased sarcoma incidence greater than the expected number of a connective tissue neoplasm associated with the proliferation of embryonically-derived mesodermal cells, occurring in a specific population in a given time period MP:0002033 increased malignant triton tumor incidence greater than the expected number of a malignant tumor with neurogenic and myogenic differentiation, occurring in a specific population in a given time period; usually arises in tissues of neural crest origin MP:0002035 increased leiomyosarcoma incidence greater than the expected number of a malignant tumor derived from smooth (nonstriated) muscle, occurring in a specific population in a given time period MP:0002036 increased rhabdomyosarcoma incidence greater than the expected number of a malignant tumor derived from skeletal (striated) muscle, occurring in a specific population in a given time period MP:0002037 increased fibrohistocytoma incidence greater than the expected number of slowly growing skin nodules derived from cellular fibrous tissue occurring in a specific population in a given time period; these often surround capillaries MP:0002038 increased carcinoma incidence greater than the expected number of any of a variety of malignant neoplasms arising from epithelial cells, occurring in a specific population in a given time period; carcinomas are usually glandular or squamous in origin MP:0002039 increased neuroblastoma incidence greater than the expected number of a malignant neoplasm characterized by immature nerve cells of embryonic type, occurring in a specific population in a given time period MP:0002041 increased pituitary adenoma incidence greater than the expected number of benign neoplasms of the pituitary, occurring in a specific population in a given time period MP:0002042 obsolete hemotologic neoplasia OBSOLETE. MP:0002043 increased colon hamartoma incidence greater than the expected number of benign focal malformations in the colon in a specific population in a given time period; results from faulty colonic development, and is composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element normally present at that site MP:0002044 increased colon adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the colon, occurring in a specific population in a given time period MP:0002045 increased renal cystadenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization and a cyst-like appearance arising in the kidney, occurring in a specific population in a given time period MP:0002047 increased hepatic hemangioma incidence greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells in the liver, occurring in a specific population in a given time period MP:0002048 increased lung adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the lung, occurring in a specific population in a given time period MP:0002049 increased extremity angiosarcoma incidence higher than normal incidence of malignant neoplasm of soft tissues; thought to arise from endothelial cells of blood vessels MP:0002050 increased pheochromocytoma incidence greater than the expected number of a benign neoplasm derived from adrenal medullary cells, occurring in a specific population in a given time period; usually associated with hypertension MP:0002051 increased skin papilloma incidence greater than the expected number of a circumscribed, benign epithelial tumor projecting from the surrounding surface, occurring in a specific population in a given time period MP:0002052 decreased tumor incidence less than the expected number of neoplasms in a specific population in a given time period MP:0002053 decreased incidence of induced tumors reduced frequency of tumor incidence induced by a carcinogen, mutagen or virus MP:0002054 obsolete disease states OBSOLETE. MP:0002055 obsolete Diabetes OBSOLETE. either insipidus or mellitus. Having in common the symptoms of polyuria MP:0002056 obsolete Insulin dependent diabetes Obsolete. Characterized by polydipsia, polyuria, increased appetite, weight loss, low plasma insulin levels, and episodic ketoacidosis MP:0002057 obsolete Non-insulin dependent diabetes OBSOLETE. Type II, adult onset. mild form gradual onset, usually in obese individuals. Plasma insulin levels are normal to high , but low in relation to plasma glucose levels. Responsive to dietary regulation or oral hypoglycemic agents, but diabetic complications and degenerative changes can develop MP:0002058 neonatal lethality death within the neonatal period after birth (Mus: P0) MP:0002059 abnormal seminal vesicle morphology any structural anomaly of either of the paired sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system; each sac is pyramidal in shape and convoluted in appearance and at the anterior extremity becomes constricted into a narrow straight duct that joins the ipsilateral vas deferens to form the ejaculatory duct; seminal vesicles secrete seminal fluid and nourish and promote the movement of spermatozoa through the urethra MP:0002060 abnormal skin morphology any structural anomaly of the membranous protective covering of the body MP:0002061 abnormal aggression-related behavior domineering, assaultive or forceful physical action MP:0002062 abnormal associative learning anomaly in the ability to change the frequency or form of a behavior as a result of the influence of the environment MP:0002063 abnormal learning/memory/conditioning altered ability to receive, store, process or recall informational stimuli MP:0002064 seizures sudden and often acute manifestation of epileptic attack, sometimes convulsive MP:0002065 abnormal fear/anxiety-related behavior altered response in tests for fear or anxiety related behaviors MP:0002066 abnormal motor capabilities/coordination/movement altered ability to coordinate voluntary movement or repetitive, compulsive movements MP:0002067 abnormal sensory capabilities/reflexes/nociception inability or altered ability to respond to a sensory stimulus MP:0002068 abnormal parental behavior altered behavior of animals that affects the ability of offspring to survive MP:0002069 abnormal consumption behavior altered ability or inability to eat or drink, or unusual choice or avoidance of foods or drink MP:0002070 obsolete abnormal sleep pattern/circadian rhythm OBSOLETE. deviation from the normal 24 hour biological activity cycle including the wake/sleep cycle MP:0002071 obsolete other abnormal behavior OBSOLETE. abnormal behaviors not attributable to other categories MP:0002072 obsolete neurological/behavioral: no defect detected OBSOLETE. no anomaly observed in neurological or behavioral tests MP:0002073 abnormal hair growth any anomaly in the amount of hair or abnormal onset of hair growth cycle or development, or abnormal hair pattern MP:0002074 abnormal hair texture irregular or unusual appearance of the structure of the hair MP:0002075 abnormal coat/hair pigmentation irregular or unusual pigmentation of the hair MP:0002076 obsolete abnormal hair follicle structure/orientation OBSOLETE. any structural anomaly or misalignment of the epidermis from which the hair shaft develops MP:0002078 abnormal glucose homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of glucose in the fluids and tissues MP:0002079 increased circulating insulin level greater than normal levels of insulin in blood MP:0002080 prenatal lethality death anytime between fertilization and birth (Mus: approximately E18.5) MP:0002081 perinatal lethality death anytime within the perinatal period (Mus: E18.5 through postnatal day 1) MP:0002082 postnatal lethality premature death anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age) MP:0002083 premature death death after weaning age, but before the normal life span (Mus: after 3 weeks of age) MP:0002084 abnormal developmental patterning abnormal systematic arrangement of the developing body along an axis MP:0002085 abnormal embryonic tissue morphology any structural anomaly of the embryonic tissue part of the whole embryo MP:0002086 abnormal extraembryonic tissue morphology any structural anomaly of the membranes involved with embryonic protection and nutrition MP:0002087 obsolete embryogenesis: no defect detected OBSOLETE. no anomaly observed in examination of embryonic development MP:0002088 abnormal embryonic growth/weight/body size limited or accelerated growth or development apparent during the embryonic period (sensu Mus: up to E14, or the completion of organogenesis) MP:0002089 abnormal postnatal growth/weight/body size increased or decreased average body size, weight or growth characteristic abnormalities manifesting after birth MP:0002090 abnormal vision any anomaly in the ability to see MP:0002091 obsolete eye: no defect detected OBSOLETE. no anomaly observed in examination of eye tissue MP:0002092 abnormal eye morphology any structural anomaly of the spheroid organ and optic nerve that serves to detect light MP:0002093 obsolete abnormal cornea/lens morphology OBSOLETE. any dysmorphology or complete or partial opacity of the lens or cornea MP:0002094 obsolete coat: no defect detected OBSOLETE. no anomaly observed in examination of coat MP:0002095 abnormal skin pigmentation anomaly in the coloration of the skin due to changes in the amount, shape, or distribution of cells producing pigment MP:0002096 obsolete abnormal skin condition/ morphology OBSOLETE. any structural anomaly or atypical condition of the skin MP:0002097 obsolete skin: no defect detected OBSOLETE. no anomaly observed in examination of skin MP:0002098 abnormal vibrissa morphology any structural anomaly of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors MP:0002099 obsolete vibrissae: no defect detected OBSOLETE. no anomaly observed in examination of whiskers MP:0002100 abnormal tooth morphology any anomaly in the size, shape or structure of the hard or soft tissues of the skeletal element within the mouth that is composed of dentine and used to procure or masticate food MP:0002101 obsolete teeth: no defect detected OBSOLETE. no anomaly observed in examination of teeth MP:0002102 abnormal ear morphology any structural anomaly of any of the structures involved in the ear or vestibular system MP:0002103 obsolete ears: no defect detected OBSOLETE. no anomaly observed in examination of auditory tissue or in hearing assessment MP:0002106 abnormal muscle physiology any functional anomaly of the muscle, not due to an anatomical defect MP:0002107 obsolete musculature: no defect detected OBSOLETE. no anomaly observed in examination of muscle tissue or in physiological assessment MP:0002108 abnormal muscle morphology any structural anomaly of the contractile tissue that produces movement in animals MP:0002109 abnormal limb morphology any structural anomaly of the projecting paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm and/or legs in mammalian species MP:0002110 abnormal digit morphology any structural anomaly of the fingers or toes MP:0002111 abnormal tail morphology any structural anomaly of the flexible elongated appendage located at the caudal end of the torso in many species; it is usually continuous with the vertebral column MP:0002112 obsolete extremities: no defect detected OBSOLETE. no anomaly observed in examination of extremities MP:0002113 abnormal skeleton development any anomaly in the formation of bone tissue MP:0002114 abnormal axial skeleton morphology any structural anomaly of the articulated bones of the cranium and vertebral column MP:0002115 abnormal limb bone morphology any structural anomaly of the limb or autopod bones MP:0002116 abnormal craniofacial bone morphology any structural anomaly of the cranial or facial bones MP:0002117 obsolete skeletal: no defect detected OBSOLETE. no anomaly observed in examination of bones and/or skeleton MP:0002118 abnormal lipid homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of lipids in the fluids and tissues MP:0002119 dipsosis excessive desire to drink, or to drink unusual fluids MP:0002121 obsolete other metabolic defect OBSOLETE. altered chemical and physical processes of the body or of a tissue, not due to lipid or glucose chemistry MP:0002122 obsolete metabolism: no defect detected OBSOLETE. no anomaly observed in examination of metabolic function MP:0002123 abnormal definitive hematopoiesis abnormal development of blood cells in the fetal and adult organism; in the fetus cells develop in the aorta, genital ridge and mesonephros region and later in the liver; in adults cells normally develop in the bone marrow and lymphatic tissues MP:0002126 obsolete hematology: no defect detected OBSOLETE. no anomaly observed in examination of hematological development or function MP:0002127 abnormal cardiovascular system morphology any structural anomaly of the heart or vascular tissue MP:0002128 abnormal blood circulation failure or atypical movement in the flow of blood from the heart to the vasculature and back to the heart MP:0002131 obsolete heart/cardiovascular system: no defect detected OBSOLETE. no anomaly observed in examination of heart or vascular tissue or in cardiovascular function MP:0002132 abnormal respiratory system morphology any structural anomaly of pulmonary tissues MP:0002133 abnormal respiratory system physiology any functional anomaly of the pulmonary system; inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment MP:0002134 obsolete respiratory system: no defect detected OBSOLETE. no anomaly observed in examination of lung and other respiratory tissues MP:0002135 abnormal kidney morphology any structural anomaly of either of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine MP:0002136 abnormal kidney physiology any functional anomaly and/or activity of either of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine MP:0002137 obsolete kidney/renal system: no defect detected OBSOLETE. no anomaly observed in examination of kidney and other renal tissues MP:0002138 abnormal hepatobiliary system morphology any structural anomaly of any of the tissues of the liver or biliary system MP:0002139 abnormal hepatobiliary system physiology any functional anomaly of the tissues of the liver or biliary system MP:0002140 obsolete liver/hepatic system: no defect detected OBSOLETE. no anomaly observed in examination of liver or other hepatic tissues MP:0002143 obsolete digestive system: no defect detected OBSOLETE. no anomaly obsesrved in the function of or in any region of the digestive system MP:0002144 abnormal B cell differentiation atypical production of or inability to produce mature B cells, and/or accumulation of B cell precursors MP:0002145 abnormal T cell differentiation atypical production of or inability to produce mature T cells, and/or accumulation of T cell precursors MP:0002146 obsolete immune system: other dysmorphology OBSOLETE. abnormal development of lymphocytes or lymphatic tissue (other than B or T lymphocytes) resulting in morphological abnormality MP:0002147 obsolete immune system: immunodeficiency OBSOLETE. defective immune response; can be primary due to defect in immune system or secondary due to disease MP:0002148 abnormal hypersensitivity reaction immune response that results in tissue injury MP:0002149 obsolete immune system: other functional anomaly OBSOLETE. altered immune response not due to anatomical defect, immunodeficiency or hypersensitivity MP:0002150 obsolete immune system: no defect detected OBSOLETE. no anomaly observed in examination of immune system tissues or function MP:0002151 abnormal neural tube morphology any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord) MP:0002152 abnormal brain morphology any structural anomaly of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) MP:0002156 obsolete central nervous system: no defect detected OBSOLETE. no anomaly observed in examination of central nervous system tissues or function MP:0002159 obsolete peripheral nervous system: no defect detected OBSOLETE. no anomaly observed in examination of peripheral nervous system tissues or function MP:0002160 abnormal reproductive system morphology structural or developmental anomaly of any of the tissues involved in the reproductive system MP:0002161 abnormal fertility/fecundity anomaly in the reproductive capability of an organism or population to produce live offspring MP:0002162 obsolete reproductive system: no defect detected OBSOLETE. no anomaly observed in examination of reproductive system tissues or function MP:0002163 abnormal gland morphology any structural anomaly of an organ that functions as a secretory or excretory organ MP:0002164 abnormal gland physiology any functional anomaly of an organ that functions as a secretory or excretory organ MP:0002165 obsolete glands: no defect detected OBSOLETE. no anomaly observed in examination of endocrine system tissues or function MP:0002166 abnormal tumor susceptibility greater than or less than the average number of tumors, usually a specific type, arising in a given organism when compared to controls MP:0002167 obsolete unaffected tumor susceptibility/resistance OBSOLETE. average number of tumors in an organism compared to controls, usually referring to a specific tumor type MP:0002168 obsolete other aberrant phenotype anomaly or dysmorphology not attributable to any other category MP:0002169 no abnormal phenotype detected normal viability, fertility, appearance and behavior; reported phenotype is indistinguishable from controls MP:0002174 abnormal gastrulation movements failure of embryonic cells to migrate, or migrate to the appropriate target during the development and invagination of the primary germ layers MP:0002175 decreased brain weight lower than average weight of the brain MP:0002176 increased brain weight greater than average weight of the brain MP:0002177 abnormal outer ear morphology any structural anomaly of any components of the auricles or external acoustic meatus MP:0002180 obsolete OBSOLETE. MP:0002181 obsolete abnormal brain cell morphology OBSOLETE. any structural anomaly of any or all brain cell types MP:0002182 abnormal astrocyte morphology any structural anomaly of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord; astrocytes are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier; astrocytes regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury MP:0002183 gliosis increased growth pattern of neuroglia in a damaged area of the brain or spinal cord MP:0002184 abnormal innervation the malformation, misprojection, abnormal fasciculation or abnormal refinement of the connection, of nerve fibers to a target MP:0002185 obsolete ectopia OBSOLETE. congenital positional anomaly or displacement of any part of the body or organ MP:0002187 abnormal fibula morphology any structural anomaly of the lateral and smaller bone of the lower limb MP:0002188 small heart reduced size of the heart relative to average MP:0002189 abnormal myocardial trabeculae morphology any structural anomaly of the supporting bundles of muscular fibers lining the walls of the heart MP:0002190 disorganized myocardium derangement of the patterned architecture of the myocardium MP:0002191 abnormal artery morphology any structural anomaly of the blood vessels that carry blood away from the heart MP:0002192 hydrops fetalis an abnormal accumulation of serous fluid in fetal tissues MP:0002193 minimal clonic seizures seizures involving rhythmic face and forelimb clonus including arm movement, and it may include rearing and falling and ventral flexion of the neck; a seizure is scored as minimal when it satisfies the minimal criteria up to or including ventral flexion, but does not include maximal tonic hindlimb extension MP:0002194 maximal tonic hindlimb extension seizures seizures induced by electrical stimulation of the brainstem; manifesting as a tonic-clonic flexion/extension sequence, starting in tonic extension of the forelimbs and terminating in a full tonic hindlimb extension, which is defined when the angle of the hindlimbs to the torso exceeds 90 degrees (although it is usually 180 degrees) MP:0002195 psychomotor seizures low frequency, tetanic stimulation used to evoke partial limbic seizures, with currents ranging from 8 mA to 20 mA, depending on the strain and gender; manifesting as rhythmic face movements and extensive forelimb clonus (e.g. shadow-boxing forelimb movements), dorsal flexion of the neck, rearing and falling, and/or transient wobbliness/ataxia; seizure lasts only 10-15 seconds and when antiepileptic drugs are present may last only a few seconds MP:0002196 absent corpus callosum absence of the commissural plate interconnecting the cortical hemispheres of the brain MP:0002199 abnormal brain commissure morphology any structural anomaly of any of the nerve fiber tracts that span the longitudinal fissure between the cerebral and/or cerebellar hemispheres of the brain MP:0002200 abnormal brain ventricular system morphology any structural anomaly of the brain ventricles, their associated choroid plexuses or the intercommunicating channels that connect the ventricular system MP:0002201 obsolete abnormal neurotransmitter receptor physiology OBSOLETE. aberrant function of cell surface receptors that bind signaling molecules released by neurons and convert these signals into intracellular changes influencing the behavior of cells MP:0002204 abnormal synaptic neurotransmitter level anomaly in the amount of endogenous signaling molecules in a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell MP:0002205 obsolete neurotransmitter imbalance OBSOLETE. MP:0002206 abnormal CNS synaptic transmission defect in the communication from a neuron to a target across a synapse in the central nervous system MP:0002207 abnormal long-term potentiation alterations in a persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells MP:0002208 abnormal germ cell morphology any structural anomaly of the germ cell, that is, any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated MP:0002209 decreased germ cell number reduced numbers of any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated MP:0002210 abnormal sex determination anomaly of primary or secondary sexual development or characteristics MP:0002211 abnormal primary sex determination aberrant gonadal development resulting in either abnormal or absent gonads or the development of gonads inconsistent with the chromosomal sex MP:0002212 abnormal secondary sex determination gonadal development may or may not be normal, and the phenotype of the animal outside the gonad does not match chromosomal sex or is ambiguous MP:0002213 true hermaphroditism the presence of both unequivocal ovarian tissue and testicular elements in the same individual regardless of karyotype; these two tissue types may be present in the same gonad (ovotestis) or may be present as separate ovaries and testis tissue elements in the same individual regardless of sex chromosome complement MP:0002214 streak gonad impairment of genital ridge development; aplasia of gonadal tissue which is sometimes replaced with functionless tissue MP:0002215 obsolete testicular feminization OBSOLETE. an XY animal displaying female sex characteristics, usually due to an X-linked mutation MP:0002216 abnormal seminiferous tubule morphology any structural anomaly of the tubules in the testes where spermatogenesis occurs MP:0002217 small lymph nodes lymph nodes of decreased size MP:0002218 increased lymph node number greater than the normal number of lymph nodes MP:0002219 decreased lymph node number fewer than the normal number of lymph nodes MP:0002220 large lymphoid organs increased size of lymphatic tissues MP:0002221 abnormal lymph organ size change in the normal size of lymphatic tissues MP:0002222 obsolete abnormal lymph organ cellularity OBSOLETE. change in the normal number of cells within a lymph organ MP:0002223 lymphoid hypoplasia decrease in the number of normal cells in normal arrangement in the lymphoid tissue, typically resulting in decreased size MP:0002224 abnormal spleen size deviation from the normal spleen size MP:0002225 obsolete abnormal spleen cellularity OBSOLETE. anomaly in the cellular makeup of the spleen MP:0002227 abnormal spleen capsule morphology any structural anomaly of the connective tissue that surrounds the spleen MP:0002228 abnormal spleen trabecular vein morphology any structural anomaly of one of the veins that feed the splenic vein MP:0002229 neurodegeneration a retrogressive impairment of function or destruction of neural tissue MP:0002230 abnormal primitive streak formation anomaly in the establishment of the midline ridge of embryonic epiblast that later develops into mesoderm and endoderm MP:0002231 abnormal primitive streak morphology anomaly in the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm MP:0002232 obsolete sensory capabilities OBSOLETE. MP:0002233 abnormal nose morphology any structural anomaly of the organ that is specialized for smell and is part of the respiratory system MP:0002234 abnormal pharynx morphology any structural anomaly in the passage between the mouth and the posterior nares and the larynx and esophagus MP:0002235 abnormal external nares morphology any structural anomaly of the anterior opening to the nasal cavity MP:0002236 abnormal internal nares morphology any structural anomaly of the portion of the opening of the nasal cavity into the nasal pharynx MP:0002237 abnormal nasal cavity morphology any structural anomaly of the cavity of the respiratory tract that extends from the nares to the pharynx; the nasal cavity is lined with ciliated mucosa MP:0002238 abnormal nasal mucosa morphology any structural anomaly of the mucous membrane that lines the nasal cavity MP:0002239 abnormal nasal septum morphology any structural anomaly of the dividing wall that runs down the midline of the nose separating the two nasal cavities, each of which ends in a nostril; it is formed by the septal nasal cartilage, parts of skull bones (ethmoid bone; vomer), and membranous parts MP:0002240 abnormal paranasal sinus morphology any structural anomaly of the paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity MP:0002241 abnormal laryngeal mucosa goblet cell morphology any structural anomaly of the epithelial cells lining the larynx, which produce mucins MP:0002242 abnormal olfactory mucosa morphology any structural anomaly of the portion of the nasal mucosa that contains the olfactory sensory endings MP:0002243 abnormal vomeronasal organ morphology any structural anomaly of the tubular, crescent-sensory organ with a luminal epithelium that contains chemosensitive receptor cells with microvilli that are thought to detect pheromones and transmit signals to the remainder of the accessory olfactory system; the organ lies at the base the nasal cavity and is split into two, separated by the nasal septum MP:0002244 abnormal turbinate morphology any structural anomaly of the small curved bones that extends horizontally along the lateral wall of the nasal passage MP:0002245 abnormal ethmoid sinus morphology any structural anomaly of the evaginations of the mucous membrane of the nasal cavity into the ethmoidal bony labyrinth, forming multiple small paranasal sinuses MP:0002246 abnormal frontal sinus morphology any structural anomaly of the paired evaginations of the mucous membrane of the nasal cavity into the lower part of the squama of the frontal bones MP:0002247 abnormal maxillary sinus morphology any structural anomaly of the largest of the paranasal sinuses, a paired pyramid-shaped air sinus located within the maxillary bone which drains via the maxillary ostium into the infundibulum, then through the hiatus semilunaris into the middle meatus of the nose MP:0002248 abnormal sphenoid sinus morphology any structural anomaly of the most posterior paranasal sinus located in the sphenoid bone near the optic nerve and the pituitary gland on the side of the skull; it drains into the sphenoethmoidal recess superior to the superior concha; the sinus is divided into right and left parts by a bony septum MP:0002249 abnormal larynx morphology any structural anomaly of the organ of voice production located between the pharynx and the trachea MP:0002250 abnormal hypopharynx morphology any structural anomaly in the portion of the pharynx that lies below the upper edge of the epiglottis and opens into the larynx and the esophagus MP:0002251 abnormal nasopharynx morphology any structural anomaly of the section of the pharynx that lies above the soft palate MP:0002252 abnormal oropharynx morphology any structural anomaly of the portion of the pharynx that lies between the soft palate and the upper edge of the epiglottis MP:0002253 abnormal pharyngeal muscle morphology any structural anomaly of any of the muscles of the pharynx, the inferior, middle and superior constrictors, salpingopharyngeus, and stylopharyngeus MP:0002254 reproductive system inflammation local accumulation of fluid, plasma proteins, and leukocytes in any of the reproductive organs MP:0002255 abnormal glottis morphology any structural anomaly of the vocal apparatus of the larynx, which includes the vocal cords and the opening between them MP:0002256 abnormal laryngeal cartilage morphology any structural anomaly of the cartilaginous structures that support the larynx MP:0002257 abnormal arytenoid cartilage morphology any structural anomaly of the paired triangular cartilages located postlaterally at the level of the thyroid cartilage MP:0002258 abnormal cricoid cartilage morphology any structural anomaly of the most inferior of the laryngeal cartilages MP:0002260 abnormal thyroid cartilage morphology any structural anomaly of the largest of the laryngeal cartilages MP:0002261 abnormal laryngeal mucosa morphology any structural anomaly of the mucous lining of the larynx, which is composed of squamous epithelium in the upper larynx and ciliated columnar epithelium in the lower larynx MP:0002262 abnormal nasal mucosa goblet cell morphology any structural anomaly of the cells lining the nasal epithelium that produce and secrete mucins MP:0002263 abnormal laryngeal muscle morphology any structural anomaly of the muscles associated with the larynx MP:0002264 abnormal bronchus morphology any structural anomaly of the upper conducting airways of the lung; these airways arise from the terminus of the trachea MP:0002265 abnormal left major bronchus morphology any structural anomaly of the conducting airway leading to the left lobe of the lungs MP:0002266 abnormal right major bronchus morphology any structural anomaly of the conducting airway leading to the right lobe of the lungs MP:0002267 abnormal bronchiole morphology any structural anomaly of the conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching MP:0002268 abnormal terminal bronchiole morphology any structural anomaly of the last conducting structure of non-respiratory bronchioles; after this point, the airways have alveoli in their walls MP:0002269 muscular atrophy acquired diminution of muscle tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation MP:0002270 abnormal pulmonary alveolus morphology any structural anomaly of the small sac-like dilations of the distal airspace of the lung; they are present along the walls of the alveolar sacs, alveolar ducts and terminal bronchioles; gas exchange of oxygen and carbon dioxide between alveolar air and blood in the pulmonary capillaries takes place across the cell walls MP:0002271 abnormal pulmonary alveolar duct morphology any structural anomaly of the respiratory conducting tubes distal to the respiratory bronchiole that lead to the alveolar sacs and the alveoli MP:0002272 abnormal nervous system electrophysiology any functional anomaly of the nervous system as it relates to conduction of electrical impulses MP:0002273 abnormal pulmonary alveolus epithelial cell morphology any structural anomaly of the cells lining the alveoli MP:0002274 abnormal type I pneumocyte morphology any structural anomaly of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange MP:0002275 abnormal type II pneumocyte morphology any structural anomaly of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored MP:0002276 abnormal lung interstitium morphology any structural anomaly of the connective tissue located between the respiratory (airway and alveolar) epithelium, the capillary endothelium and pleural mesothelium; it contains basement membrane composed of collagen, elastin, proteoglycans, and fibronectin; it functions in the mechanical behavior of the lung, and forms a barrier to regulate the flow of plasma constituents from the capillaries to the airway and alveolar spaces MP:0002277 abnormal respiratory mucosa morphology any structural anomaly of the mucous membrane lining the respiratory tract MP:0002278 obsolete abnormal respiratory muscle morphology OBSOLETE. structural anomaly of any of the muscles involved in breathing MP:0002279 abnormal diaphragm morphology any structural anomaly of the thin musculomebranous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control MP:0002280 abnormal intercostal muscle morphology any structural anomaly of the respiratory muscles that arise from the lower border of one rib and insert into the upper border of the adjoining rib MP:0002281 abnormal respiratory mucosa goblet cell morphology any structural anomaly of the cells of the respiratory epithelial lining that produce and secrete mucins MP:0002282 abnormal trachea morphology any structural anomaly of the tube descending from the larynx and branching into the right and left main bronchi MP:0002283 obsolete hyaline cartilage abnormalities OBSOLETE. MP:0002284 abnormal tracheal smooth muscle morphology any structural anomaly of the smooth muscle lining the trachea MP:0002285 abnormal tracheal ciliated epithelium morphology any structural anomaly of the epithelial lining of the trachea which contains numerous ciliated cells MP:0002286 cryptorchism failure of one or both of the testes to descend into the scrotum around the time of birth MP:0002287 obsolete reproductive system: fertility/fecundity characteristics OBSOLETE. MP:0002288 obsolete litter size OBSOLETE. MP:0002291 obsolete fecundity characteristics OBSOLETE. MP:0002292 abnormal gestational length anomaly in the usual duration of time between when a fertilized egg implants in the wall of the uterus and the birth of offspring MP:0002293 long gestation period increase in the average duration of a pregnancy MP:0002294 short gestation period decrease in the average duration of a pregnancy MP:0002295 abnormal pulmonary circulation any anomaly in the circulation of blood through the lungs MP:0002296 aspiration inspiration into the airways of fluid or any foreign material MP:0002297 abnormal forced expiratory flow rates anomaly in the rates of airflow during forced vital capacity determination MP:0002298 obsolete abnormal maximal expiratory flow rate OBSOLETE. MP:0002299 obsolete abnormal maximal expiratory flow-volume curve OBSOLETE. MP:0002300 obsolete abnormal maximal midexpiratory flow rate OBSOLETE. MP:0002301 obsolete abnormal peak expiratory flow rate OBSOLETE. MP:0002302 obsolete abnormal forced expiratory volume OBSOLETE. anomaly in the maximum amount of air that can be expelled in a given number of seconds during a forced vital capacity determination MP:0002303 obsolete abnormal maximal voluntary ventilation OBSOLETE. anomaly in the maximum amount of air that can be breathed in and blown out over a specified interval MP:0002304 abnormal total lung capacity anomaly in the volume of air contained in the lungs at the end of maximal inspiration MP:0002305 obsolete abnormal closing volume OBSOLETE. MP:0002306 abnormal functional residual capacity anomaly in the volume of air remaining in the lungs at the end of a normal expiration MP:0002307 obsolete abnormal expiratory reserve volume OBSOLETE. anomaly in the amount of the extra volume of air that can be expired with maximum effort beyond the level reached at the end of a normal expiration MP:0002308 abnormal residual volume anomaly in the volume of air remaining in the lungs at the end of maximal expiration MP:0002309 abnormal vital capacity anomaly in the amount of air that is exhaled by a maximal expiration following a maximal inspiration MP:0002310 decreased susceptibility to hepatic steatosis less likely than normal to develop hepatic steatosis MP:0002311 abnormal inspiratory capacity anomaly in the maximal volume of air that can be inspired after the end of a normal expiration MP:0002312 abnormal inspiratory reserve volume anomaly in the extra volume of air that can be inspired with maximal effort after reaching the end of a normal inspiration MP:0002313 abnormal tidal volume anomaly in the volume of air inspired or expired during each normal respiratory cycle MP:0002314 abnormal respiratory mechanics anomaly in the action of the lungs, diaphragm, ribs and chest wall during respiration MP:0002315 obsolete abnormal respiratory signs/symptoms OBSOLETE. manifestations of diseases of the respiratory tract MP:0002316 anoxia absence or almost complete absence of oxygen from inspired gases, in blood or tissues MP:0002318 hypercapnia elevated concentration of CO2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases MP:0002319 hyperoxia elevated concentration of O2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases MP:0002320 hyperventilation a state in which there is a increased amount of air entering the pulmonary alveoli (increased alveolar ventilation), which causes an decrease in arterial carbon dioxide level MP:0002321 hypoventilation a state in which there is a reduced amount of air entering the pulmonary alveoli (decreased alveolar ventilation), which causes an increase in arterial carbon dioxide level MP:0002322 abnormal respiratory transport anomaly in the process of gas exchange MP:0002323 decreased susceptibility to hyperlipidemia less likely than normal to develop abnormally high levels of circulating lipids MP:0002324 abnormal alveolocapillary membrane morphology any structural anomaly of the membrane between the capillary blood and alveolar air, comprised of the alveolar epithelium and the capillary epithelium and their adherent basement membranes and epithelial cell cytoplasm MP:0002325 abnormal pulmonary diffusing capacity anomaly in the amount of gas taken up by pulmonary capillary blood per minute per unit of average oxygen pressure gradient between alveolar gas and pulmonary capillary blood MP:0002326 abnormal ventilation-perfusion ratio anomaly in the ratio of alveolar ventilation to simultaneous capillary blood flow in the lung MP:0002327 abnormal respiratory function anomaly in any measure of the processes involved in respiration MP:0002328 abnormal airway resistance anomaly in the opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow MP:0002329 abnormal blood gas level anomaly in the amount of oxygen and carbon dioxide in the blood MP:0002330 abnormal bronchial provocation anomaly in the results of measures of responsiveness to allergens, pharmacological solutions, or control solutions MP:0002332 abnormal exercise endurance improved or impaired performance during controlled physical activity MP:0002333 abnormal lung compliance anomaly in the ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure MP:0002334 abnormal airway responsiveness anomalous response in bronchial provocation tests MP:0002335 decreased airway responsiveness less easily provoked into bronchoconstriction during bronchial provocation testing MP:0002336 abnormal pulmonary gas exchange anomaly in the exchange of oxygen and carbon dioxide between the alveolar air and pulmonary capillary blood MP:0002337 abnormal whole-body plethysmography anomaly in the measurements gathered in a chamber that encloses the body and in which changes in volume are recorded MP:0002338 abnormal pulmonary ventilation anomaly of the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment MP:0002339 abnormal lymph node morphology any structural anomaly of the oval or bean shaped bodies located along the lymphatic system that consist of densely packed lymphocytes, lymph fluid and connective tissue, and is the site where acquired immune responses are launched MP:0002340 abnormal axillary lymph node morphology any structural anomaly of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region MP:0002341 obsolete abnormal lymph node capsule OBSOLETE. anomaly in the connective tissue that surrounds a lymph node MP:0002342 abnormal lymph node trabecula morphology any structural anomaly of the membranous processes on the internal surface of the lymph node capsule, consisting of connective tissue and muscle fibers MP:0002343 abnormal lymph node cortex morphology any structural anomaly in the outer area of the lymph node that has B and T cell domains MP:0002344 abnormal lymph node B cell domain morphology any structural anomaly of the part of the lymph node cortex in which B lymphocytes home to primary follicles to survey follicular dendritic cells (FDCs); antigen stimulated B cells proliferate and differentiate within the follicles forming distinctive germinal centers MP:0002345 abnormal lymph node primary follicle morphology any structural anomaly of an unstimulated network of follicular dendritic cells and small resting B cells in the lymph node cortex MP:0002346 abnormal lymph node secondary follicle morphology any structural anomaly of a lymph node primary follicle that has undergone antigenic challenge and is characterized by a ring of concentrically packed B lymphocytes surrounding a germinal center, which contains proliferating B cells, and a mantle area that contains nondividing B cells and some helper T cells with macrophages and follicular dendritic cells interspersed MP:0002347 abnormal lymph node T cell domain morphology any structural anomaly of the paracortex and interfollicular cortex of the lymph node in which T lymphocytes home to survey dendritic cells; T lymphocytes proliferate in the paracortex and enlarge it but do not produce structures analogous to germinal centers MP:0002348 abnormal lymph node medulla morphology any structural anomaly in the area of the lymph node through which lymph leaves the node; it contains macrophages and antibody-secreting plasma cells MP:0002349 abnormal afferent lymphatic vessel morphology any structural anomaly in the lymphatic tubes entering the lymph node MP:0002350 abnormal efferent lymphatic vessel morphology any structural anomaly in the lymphatic tube exiting the lymph node MP:0002351 abnormal cervical lymph node morphology any structural anomaly of the lymph nodes found near the neck and shoulders MP:0002352 abnormal popliteal lymph node morphology any structural anomaly of the lymph nodes which drain the legs MP:0002353 abnormal inguinal lymph node morphology any structural anomaly of the lymph nodes located in the groin area MP:0002354 abnormal spleen trabecular artery morphology any structural anomaly of one of the branches of the splenic artery MP:0002355 obsolete abnormal spleen venous sinus OBSOLETE. MP:0002356 abnormal spleen red pulp morphology any structural anomaly of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation MP:0002357 abnormal spleen white pulp morphology any structural anomaly of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies MP:0002358 abnormal spleen periarteriolar lymphoid sheath morphology any structural anomaly of the area of the spleen in which T cells surround the central arteriole MP:0002359 abnormal spleen germinal center morphology any structural anomaly of the area of the spleen secondary B follicle where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs MP:0002360 abnormal spleen B cell corona morphology any structural anomaly of the area of the spleen secondary B follicle that surrounds the germinal center and harbors the small recirculating B lymphocytes MP:0002361 abnormal spleen central arteriole morphology any structural anomaly of the blood vessel surrounded by the periarteriolar lymphoid sheath that connects the trabecular artery to the trabecular vein MP:0002362 abnormal spleen marginal zone morphology any structural anomaly of the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens MP:0002363 abnormal spleen marginal sinus morphology any structural anomaly of the border region surrounding the spleen B cell follicles and the periarteriolar lymphoid sheath (PALS) that separates it from the marginal zone that mediates lymphocyte entry into the white pulp from the blood MP:0002364 abnormal thymus size deviation from the normal size of the thymus MP:0002365 obsolete abnormal thymus cellularity OBSOLETE. anomaly in the cellular makeup of the thymus MP:0002367 abnormal thymus lobule morphology any structural anomaly of the basic structural unit of the thymus MP:0002368 abnormal thymus capsule morphology any structural anomaly of the fibrous connective tissue surrounding the thymus MP:0002369 abnormal thymus subcapsular epithelium morphology any structural anomaly of the epithelial cells lining the capsule and trabeculae of the thymus MP:0002370 abnormal thymus trabecula morphology any structural anomaly of the thymic connective tissue which extends into the parenchyma MP:0002371 abnormal thymus cortex morphology any structural anomaly of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes MP:0002373 obsolete abnormal macrophages in the thymus OBSOLETE. MP:0002374 obsolete abnormal thymus epithelial cells OBSOLETE. MP:0002375 abnormal thymus medulla morphology any structural anomaly of the inner area of thymus lobules MP:0002376 abnormal dendritic cell physiology any functional anomaly of the immunocompetent cells of the lymphoid and hemopoietic systems and skin, which function to process antigens and present them to T cells, thus stimulating cellular immunity MP:0002377 abnormal mucosa-associated lymphoid tissue morphology any structural anomaly of the regional immune system associated with the mucosa MP:0002378 abnormal gut-associated lymphoid tissue morphology any structural anomaly of the regional immune system located in the gut MP:0002379 abnormal oropharyngeal lymphoid tissue morphology any structural anomaly of the circular lymphoid tissue formed by the lingual, pharyngeal, and facial tonsils MP:0002380 abnormal palatine tonsil morphology any structural anomaly of either of the two small almond-shaped masses of lymph tissue found on either side of the oropharynx MP:0002381 obsolete abnormal tonsil capsule OBSOLETE. MP:0002382 obsolete abnormal lymphatic nodules with germinal centers OBSOLETE. MP:0002383 obsolete abnormal tonsil crypts OBSOLETE. MP:0002384 abnormal nasopharyngeal tonsil morphology any structural anomaly of the lymph tissue in the roof and posterior wall of the nasopharynx MP:0002385 abnormal lingual tonsillar tissue morphology any structural anomaly of the lymph tissue on the floor of the oropharyngeal passage, near the root of the tongue MP:0002386 abnormal tubal tonsil morphology any structural anomaly of the lymph tissue associated with the pharyngeal opening of the auditory tube MP:0002387 obsolete abnormal prevalence of Peyer's patches OBSOLETE. deviation from the normal distribution and/or number of Peyer's patches MP:0002388 abnormal Peyer's patch epithelium morphology any structural anomaly of the specialized epithelium of the Peyer's patch MP:0002389 abnormal Peyer's patch follicle morphology any structural anomaly of the area of the Peyer's patch normally occupied by B cells MP:0002390 obsolete abnormal Peyer's patch dome OBSOLETE. MP:0002391 abnormal Peyer's patch germinal center morphology any structural anomaly of the area of the Peyer's patch where B cells proliferate and differentiate into plasma cells MP:0002392 abnormal Peyer's patch T cell area morphology any structural anomaly of the Peyer's patch area normally occupied by T lymphocytes MP:0002393 abnormal bronchus-associated lymphoid tissue morphology any structural anomaly of the regional immune system located near the bronchus MP:0002394 obsolete absent thymocyte subset OBSOLETE. lack of a particular group of T cells MP:0002395 obsolete hemolymphoid system abnormalities OBSOLETE. anomalies of the blood and blood-forming tissues or of the immune system and immune cell forming tissues MP:0002396 abnormal hematopoietic system morphology/development any structural or developmental anomaly of the blood cells or the organs associated with the development and formation of blood cells MP:0002397 abnormal bone marrow morphology any structural anomaly of the soft tissue that fills the cavities of bones MP:0002398 abnormal bone marrow cell morphology/development any structural anomaly of the cells found in the bone marrow MP:0002399 abnormal pluripotent precursor cell morphology any structural anomaly of the cells that give rise to most types of cells necessary for fetal development MP:0002400 abnormal multipotent stem cell morphology any structural anomaly of the specialized cells that are committed to giving rise to cells with particular functions MP:0002401 abnormal lymphopoiesis atypical formation of lymphocytes and plasma cells from lymphoid stem cells which develop from the pluripotent hematopoietic stem cells in the bone marrow; lymphoid stem cells differentiate into T-lymphocytes; B-lymphocytes; plasma cells; or NK-cells (natural killer cells), depending on the organ or tissues to which they migrate MP:0002403 abnormal pre-B cell morphology any structural anomaly of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface MP:0002404 increased intestinal adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the small and/or large intestine, occurring in a specific population in a given time period MP:0002405 respiratory system inflammation local accumulation of fluid, plasma proteins, and leukocytes in the respiratory system MP:0002406 increased susceptibility to infection greater likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens MP:0002407 abnormal double-negative T cell morphology any structural anomaly of the subset of T cells found in the thymus that express neither CD4 nor CD8 MP:0002408 abnormal double-positive T cell morphology any anomaly of the subset of T cells found in the thymus that express both CD4 and CD8 MP:0002409 decreased susceptibility to infection reduced likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens MP:0002410 decreased susceptibility to viral infection reduced likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus MP:0002411 decreased susceptibility to bacterial infection reduced likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria MP:0002412 increased susceptibility to bacterial infection greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria MP:0002413 abnormal megakaryocyte progenitor cell morphology any structural anomaly of the progenitor cells of the thrombocytic (platelet) line of cells MP:0002414 abnormal myeloblast morphology/development any structural anomaly of the cells found in the bone marrow that give rise to the granulocyte line of blood cells MP:0002415 abnormal neutrophil differentiation atypical production of or inability to produce the granular leukocytes that have a three- to five-lobed nucleus and a cytoplasm that contains inconspicuous granules stainable by neutral dyes MP:0002416 abnormal proerythroblast morphology any structural anomaly of the immature, nucleated erythrocyte precursors that give rise to reticulocytes and are derived from erythroid progenitor cells MP:0002417 abnormal megakaryocyte morphology any structural anomaly of the giant 50 to 100 micron diameter cells with greatly lobulated nuclei found in the bone marrow; mature blood platelets are released from their cytoplasm MP:0002418 increased susceptibility to viral infection greater likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus MP:0002419 abnormal innate immunity anomaly in the function of the early phase of the response to infection; normally, it is present at all times, does not increase with exposure to specific pathogens, and does not discriminate between pathogens MP:0002420 abnormal adaptive immunity anomaly in the function of the response of antigen-specific lymphocytes to antigen, including the development of immunological memory MP:0002421 abnormal cell-mediated immunity abnormal function of any adaptive immune response in which T cells play a main role MP:0002422 abnormal basophil morphology any structural anomaly of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size; these cells contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation MP:0002423 abnormal mast cell physiology any functional anomaly of the granulated cells found in most tissues and which contain large amounts of histamine and heparin in granules MP:0002424 abnormal reticulocyte morphology any structural anomaly of immature erythrocytes characterized by a meshlike pattern of threads and particles at the former site of the nucleus MP:0002425 abnormal susceptibility to autoimmune disorder a change in the likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides MP:0002426 obsolete blood abnormalities OBSOLETE. structural anomalies in the cells, fluids, or proteins found in the blood MP:0002427 disproportionate dwarf abnormally undersized with disproportionate body parts; usually with more significant shortening of the limbs in proportion to the trunk size MP:0002428 abnormal semicircular canal morphology any structural anomaly of the organ of balance composed of three long bony tubes of the labyrinth MP:0002429 abnormal blood cell morphology/development any structural anomaly of any of the cells found in the blood or hematopoietic organ MP:0002432 abnormal CD4-positive, alpha beta T cell morphology any structural anomaly of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production MP:0002433 abnormal T-helper 1 cell morphology any structural anomaly of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity MP:0002434 abnormal T-helper 2 cell morphology any structural anomaly of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy MP:0002435 abnormal effector T cell morphology any structural anomaly of a differentiated T cell with ability to traffic to peripheral tissues and is capable of mounting a specific immune response MP:0002436 abnormal CD8-positive, alpha-beta cytotoxic T cell morphology any structural anomaly of a CD8-positive, alpha-beta T cell capable of killing target cells in an antigen specific manner MP:0002439 abnormal plasma cell morphology any structural anomaly of a terminally differentiated, post-mitotic, short-lived cell of the B cell lineage devoted to producing large amounts of immunoglobulin MP:0002440 abnormal memory B cell morphology any structural anomaly of a distinctly differentiated long-lived B cell that is readily activated upon reencounter of its antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin MP:0002441 abnormal granulocyte morphology any structural anomaly of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils MP:0002442 abnormal leukocyte physiology any functional anomaly of any of the white blood cells (basophils, eosinophils, neutrophils, lymphocytes, or monocytes) MP:0002443 abnormal eosinophil differentiation atypical production of or inability to produce the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions MP:0002444 abnormal T cell physiology any functional anomaly of lymphocytes that are responsible for cell-mediated immunity and immune system regulation MP:0002445 abnormal mononuclear cell differentiation atypical production of or inability to produce a leukocyte with a single non-segmented nucleus in the mature form MP:0002446 abnormal macrophage morphology any structural anomaly of the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells MP:0002447 abnormal erythrocyte morphology any structural anomaly of a mature red blood cell, an ennucleate biconcave disk about 7 micrometers in diameter that contains hemoglobin confined within a lipid membrane; it is the major cellular element of the circulating blood and transports oxygen as its principal function MP:0002450 abnormal lymph organ development anomaly in the process of morphological maturation of the organs of the lymph system MP:0002451 abnormal macrophage physiology any functional anomaly of the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells MP:0002452 abnormal professional antigen presenting cell physiology any functional anomaly of a cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response MP:0002453 abnormal B lymphocyte antigen presentation anomaly in the ability of B lymphocyte to process and/or present antigen MP:0002454 abnormal macrophage antigen presentation anomaly in the ability of macrophage phagocytic cells to process and present antigen to T lymphocytes MP:0002455 abnormal dendritic cell antigen presentation anomaly in the ability of dendritic cells to process and present antigen to T lymphocytes MP:0002456 abnormal Langerhans cell antigen presentation anomaly in the ability of phagocytic cells of the epidermis to display antigen for recognition by T lymphocytes MP:0002458 abnormal B cell number deviation from the normal count of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity MP:0002459 abnormal B cell physiology any functional anomaly of lymphocytes that expresses membrane-bound antibody, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens MP:0002460 decreased immunoglobulin level less than normal immunoglobulin level MP:0002461 increased immunoglobulin level greater than normal immunoglobulin level MP:0002462 abnormal granulocyte physiology any functional anomaly of neutrophils, eosinophils, or basophils MP:0002463 abnormal neutrophil physiology abnormal function of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes MP:0002464 abnormal basophil physiology any functional anomaly of the leukocyte that contains granules that stain with basic dyes MP:0002465 abnormal eosinophil physiology any functional anomaly of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions MP:0002467 impaired neutrophil phagocytosis reduced ability of neutrophils to internalize particulate matter MP:0002468 obsolete abnormal complement physiology OBSOLETE. abnormal function of the set of plasma proteins that act together to attack extracellular pathogens MP:0002469 obsolete abnormal C1 physiology OBSOLETE. abnormal function of the complement protein, C1 MP:0002470 obsolete abnormal C2 physiology OBSOLETE. abnormal function of the complement protein, C2 MP:0002471 abnormal complement pathway impaired ability of the complement proteins to act sequentially to directly kill microbes, dispose of immune complexes, and regulate other immune processes MP:0002472 impaired complement alternative pathway abnormal function of the plasma protein cascade triggered by direct contact with pathogen surfaces MP:0002473 impaired complement classical pathway abnormal function of the plasma protein cascade triggered by antigen:antibody complexes MP:0002474 obsolete abnormal C3 physiology OBSOLETE. abnormal function of the complement protein, C3 MP:0002475 obsolete abnormal C4 physiology OBSOLETE. abnormal function of the complement protein, C4 MP:0002476 obsolete abnormal C5 physiology OBSOLETE. abnormal function of the complement protein, C5 MP:0002477 obsolete abnormal C6 physiology OBSOLETE. abnormal function of the complement protein, C6 MP:0002478 obsolete abnormal C7 physiology OBSOLETE. abnormal function of the complement protein, C7 MP:0002479 obsolete abnormal C8 physiology OBSOLETE. abnormal function of the complement protein, C8 MP:0002480 obsolete abnormal C9 physiology OBSOLETE. abnormal function of the complement protein, C9 MP:0002481 obsolete abnormal factor B physiology OBSOLETE. abnormal function of the complement protein, factor B MP:0002482 obsolete abnormal factor D physiology OBSOLETE. abnormal function of the complement protein, factor D MP:0002483 obsolete abnormal acute phase protein physiology OBSOLETE. functional anomaly in the series of proteins found in the blood shortly after infection and which participate in the early phases of host defense against infection MP:0002484 obsolete abnormal C-reactive protein physiology OBSOLETE. anomaly in the function of this plasma protein that normally circulates in increased amounts during inflammation or after tissue damage MP:0002485 obsolete abnormal mannose-binding protein physiology OBSOLETE. an anomaly in the function of this acute phase protein that normally opsonizes pathogens bearing mannose on their surfaces and can activate the complement system MP:0002486 obsolete abnormal serum amyloid protein physiology OBSOLETE. any functional anomaly in an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis MP:0002487 obsolete abnormal fibrinogen physiology OBSOLETE. an anomaly in the function of this coaguable protein in the blood plasma MP:0002488 obsolete abnormal phagocyte physiology OBSOLETE. anomaly in the ability of these cells to ingest and internalize particulate matter MP:0002490 abnormal immunoglobulin level deviation from the normal levels of glycoproteins present in the blood and other tissue, often functioning as antibodies MP:0002491 decreased IgD level less than normal immunoglobulin class D level MP:0002492 decreased IgE level less than normal immunoglobulin class E level MP:0002493 increased IgG level greater than normal immunoglobulin class G level MP:0002494 increased IgM level greater than normal immunoglobulin class M level MP:0002495 increased IgA level greater than normal immunoglobulin class A level MP:0002496 increased IgD level greater than normal immunoglobulin class D level MP:0002497 increased IgE level greater than normal immunoglobulin class E level MP:0002498 abnormal acute inflammation aberrant early and often transient reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response MP:0002499 chronic inflammation persistent inflammatory response, often caused by persistent infection or during an autoimmune response MP:0002500 granulomatous inflammation chronic inflammation resulting from the failure of the acute inflammatory response and persistence of the injurious agent; characterized by a central area of macrophages, often fused into giant cells, and surrounded by T cells MP:0002501 obsolete abnormal inflammatory mediator physiology OBSOLETE. functional anomaly of any of the endogenous compounds that mediate the local accumulation of fluid, plasma proteins, and leukocytes at the site of injury, insult, or infection MP:0002502 obsolete abnormal vasoactive mediator physiology OBSOLETE. functional anomaly of any of the endogenous compounds that act on the vasculature MP:0002503 abnormal histamine physiology any functional anomaly of this amine that is involved in local immune response, in regulating physiological function in the gut, and that acts as a neurotransmitter MP:0002504 obsolete abnormal serotonin physiology OBSOLETE. functional anomaly of this biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets; it normally mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity MP:0002505 obsolete abnormal bradykinin physiology OBSOLETE. functional anomaly of this potent, short-lived vasoactive peptide that causes arteriolar dilation and increased capillary permeability MP:0002506 obsolete abnormal anaphylotoxin physiology OBSOLETE. functional anomaly of any of the small fragments of complement proteins released by cleavage during complement activation, they are chemotactic and vasoactive MP:0002507 obsolete abnormal C4a physiology OBSOLETE. functional anomaly of complement fragment C4a, which is normally involved in increasing vascular permeability and enhancing smooth muscle contraction MP:0002508 obsolete abnormal complement 5a physiology OBSOLETE. functional anomaly of this product of complement activation that is a potent chemotactic factor for neutrophils, monocytes, and basophils and enhances smooth muscle contraction and vascular permeability MP:0002509 obsolete abnormal C3a physiology OBSOLETE. functional anomaly of complement fragment C3a, which is normally involved in increasing vascular permeability and enhancing smooth muscle contraction MP:0002510 obsolete abnormal leukotriene physiology OBSOLETE. functional anomaly of any of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells MP:0002511 obsolete abnormal leukotriene C4 physiology OBSOLETE. any functional anomaly of the conjugation product of leukotriene a4 and glutathione; it is the major arachidonic acid metabolite in macrophages and mast cells as well as in antigen-sensitized lung tissue, and it normally stimulates mucus secretion in the lung, and produces contractions of nonvascular and some vascular smooth muscle MP:0002512 obsolete abnormal leukotriene D4 physiology OBSOLETE. any functional anomaly of a leukotriene c4 derivative generated after partial hydrolysis of the gamma-glutamyl portion of the peptide chain; its biological actions normally include stimulation of vascular and nonvascular smooth muscle, and increases in vascular permeability MP:0002513 obsolete abnormal leukotriene E4 physiology OBSOLETE. any functional anomaly of a leukotriene d4 derivative generated by a peptidase reaction that removes the glycine residue; its biological actions normally include stimulation of vascular and nonvascular smooth muscle, and increases in vascular permeability MP:0002514 obsolete abnormal prostaglandin physiology OBSOLETE. functional anomaly of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation MP:0002515 obsolete PGD2 OBSOLETE. MP:0002516 obsolete abnormal PGE2 physiology OBSOLETE. functional anomaly of this member of the prostaglandin family, which normally has vasodilatory effects, increasing vascular permeability MP:0002517 obsolete abnormal PGI2 physiology OBSOLETE. functional anomaly of this member of the prostaglandin family that normally has vasodilatory effects, increasing vascular permeability MP:0002518 obsolete abnormal PGF2alpha physiology OBSOLETE. functional anomaly of this prostaglandin that normally has vasocontractile, oxytocic, luteolytic, and abortifacient activities MP:0002519 obsolete abnormal thromboxane physiology OBSOLETE. functional anomaly of any of the members of a family of mediators with vasoactive effects MP:0002520 obsolete abnormal TxA2 physiology OBSOLETE. functional anomaly of this potent vasoconstrictor that also mediates platelet aggregation MP:0002521 obsolete abnormal platelet activating factor physiology OBSOLETE. functional anomaly of this mediator generated by nearly all activated inflammatory cells, endothelial cells, and injured tissue cells; normally it is a potent vasodilator and enhances microvasculature permeability, in addition, it induces platelet aggregation and degranulation at sites of injury and enhances the release of serotonin MP:0002522 obsolete abnormal chemotactic factor physiology OBSOLETE. functional anomaly of any of a class of pro-inflammatory proteins that attract and activate leukocytes MP:0002523 obsolete abnormal chemotactic complement factor physiology OBSOLETE. functional anomaly of any of a subset of complement fragments that are involved in recruitment of leukocytes to the site of injury MP:0002524 obsolete lipoxygenase products OBSOLETE. MP:0002525 obsolete abnormal leukotriene B4 physiology OBSOLETE. functional anomaly of this product of inflammatory cell activation that is a potent chemoattractant for macrophages and neutrophils MP:0002526 obsolete abnormal chemokine physiology OBSOLETE. functional anomaly of any of the class of pro-inflammatory cytokines that attract and activate leukocytes MP:0002527 obsolete abnormal interleukin-8 physiology OBSOLETE. functional anomaly of this protein secreted by macrophages and is chemotactic for neutrophils and T cells MP:0002528 obsolete abnormal interleukin-1 physiology OBSOLETE. functional anomaly of this soluble factor produced by macrophages/monocytes that activates vascular endothelium and lymphocytes MP:0002529 obsolete abnormal interleukin physiology OBSOLETE. functional anomaly of any of the cytokines produced by leukocytes MP:0002530 obsolete abnormal tumor necrosis factor physiology OBSOLETE. functional anomaly of this cytokine produced by macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium MP:0002531 abnormal type I hypersensitivity reaction anomaly in a reaction manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks MP:0002532 abnormal type II hypersensitivity reaction anomaly in the response caused by an Ag-Ab reaction; antibodies are directly or indirectly cytotoxic to antigens on cell surfaces or in connective tissues; most often involves IgG and IgM; complement activation is usually involved MP:0002533 abnormal type III hypersensitivity reaction anomaly in the tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via Abs encountering circulating Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury MP:0002534 abnormal type IV hypersensitivity reaction anomaly in an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact MP:0002535 obsolete combined T cell/ B cell deficiency OBSOLETE. Use cell-mediated immunity instead. defective or absent host defense involving both B and T cells MP:0002536 obsolete severe combined immunodeficiency disease OBSOLETE. rare congenital disorder characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels MP:0002538 obsolete Di George syndrome OBSOLETE. congenital syndrome with absence of thymus and parathyroids, causing impaired cellular immunity; immunoglobulin levels are normal MP:0002539 obsolete B cell deficiency OBSOLETE. defective or absent host defense involving B cells MP:0002540 obsolete congenital X-linked infantile hypogammaglobulinemia OBSOLETE. an immunologic deficiency state characterized by very low level of generally all classes of gamma-immunoglobulins MP:0002541 obsolete selective IgA deficiency OBSOLETE. an immunologic deficiency state characterized by very low levels of the immunoglobulin class A MP:0002543 brachyphalangia abnormally short phalanges MP:0002544 brachydactyly abnormally short digits MP:0002546 mydriasis increased diameter of one or both central circular aperture of the iris through which light rays enter the eye MP:0002551 abnormal blood coagulation altered ability or inability of the blood to clot MP:0002552 obsolete abnormal response to addictive substance OBSOLETE. aberrant behavioral or physiological reaction to an addictive substance MP:0002553 preference for addictive substance strong predilection for an addictive substance MP:0002554 aversion to addictive substance purposeful avoidance of an addictive substance due to dislike MP:0002555 addiction strong dependence on an addictive compound such as alcohol or narcotics that results in uncontrollable cravings for such compounds MP:0002556 abnormal cocaine consumption aberrant behavioral-related or physiological-related intake of cocaine into the body MP:0002557 abnormal social/conspecific interaction behavior deviation of the normal behavior of animals towards each other MP:0002558 obsolete abnormal circadian period any change in the cycle length expressed when exposed to constant conditions without temporal cues MP:0002559 obsolete abnormal circadian persistence anomaly in the ability for an animal to retain a circadian rhythm when time cues are removed MP:0002560 obsolete arrhythmic circadian persistence loss of any rhythmic pattern upon removal of time cues MP:0002561 obsolete abnormal circadian phase anomaly in the phase relationship between a temporal synchronizing event (such as light cycle) and a phase reference point of an animal (such as activity onset) MP:0002562 obsolete prolonged circadian period increase in the cycle length expressed when exposed to constant conditions without temporal cues MP:0002563 obsolete shortened circadian period decrease in the cycle length expressed when exposed to constant conditions without temporal cues MP:0002564 obsolete advanced circadian phase increase in the phase relationship between a temporal synchronizing event (such as light cycle) and a phase reference point of an animal (such as activity onset) MP:0002565 obsolete delayed circadian phase decrease in the phase relationship between a temporal synchronizing event (such as light cycle) and a phase reference point of an animal (such as activity onset) MP:0002566 abnormal sexual interaction altered initiation, failure of initiation or incomplete mating behavior MP:0002567 obsolete abnormal odor preference OBSOLETE. MP:0002568 obsolete addiction/drug abuse OBSOLETE. MP:0002570 alcohol aversion purposeful avoidance of alcohol due to dislike MP:0002571 senility a degenerative state of brain function manifesting in an impairment of memory, judgment, attention span, problem solving skills, the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function, and a global loss of cognitive abilities MP:0002572 abnormal emotion/affect behavior altered response in tests for emotional related behaviors MP:0002573 behavioral despair depression assayed by reduced escape attempts and/or immobility when placed in a stressful situation such as a forced swim test or a suspension test; or failure to seek pleasurable stimuli MP:0002574 increased vertical activity greater than average time spent jumping or rearing MP:0002575 increased circulating ketone body level greater than the normal amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acetone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus MP:0002576 abnormal enamel morphology any structural anomaly of the hard outer coating of the exposed portion of the tooth MP:0002577 reduced enamel thickness thin hard coating of the exposed portion of the tooth MP:0002578 impaired ability to fire action potentials anomaly resulting in reduced changes in membrane potentials occurring in nerve or other excitable tissue when excitation occurs MP:0002579 disorganized secondary lens fibers deformation or misalignment of the elongated cells that form the crystalline lens MP:0002580 duodenal lesions focal pathological changes characterized by alteration in the size, shape and organization of the cellular components of the duodenum epithelium tissue MP:0002581 abnormal ileum morphology any structural anomaly of the portion of the small intestine that extends from the jejunum to the colon MP:0002582 disorganized extraembryonic tissue a lack of the regular arrangement of the membranes involved with the embryo's protection and nutrition MP:0002583 absent extraembryonic ectoderm absence of the endoderm layer of the extraembryonic tissue MP:0002584 small ectoplacental cone reduced size of the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta MP:0002585 obsolete abnormal response/metabolism to xenobiotics OBSOLETE. altered ability or inability to metabolize or respond to foreign substances MP:0002586 abnormal platelet volume anomaly in the content of platelet cells over normal MP:0002587 obsolete heart/cardiovascular system: characteristics OBSOLETE. MP:0002588 obsolete blood cell characteristics OBSOLETE. MP:0002589 obsolete mean corpuscular volume traits OBSOLETE. MP:0002590 increased mean corpuscular volume greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices MP:0002591 decreased mean corpuscular volume less than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices MP:0002592 obsolete mean erythrocyte count traits OBSOLETE. MP:0002593 high mean erythrocyte cell number greater than average numbers of red blood cells MP:0002594 low mean erythrocyte cell number less than average numbers of red blood cells MP:0002596 abnormal hematocrit greater or less than the average percentage of a volume of a blood sample occupied by red blood cells MP:0002597 obsolete platelet traits OBSOLETE. MP:0002598 obsolete mean platelet volume traits OBSOLETE. MP:0002599 increased mean platelet volume increased average content of platelet cells over normal MP:0002600 obsolete mean leukocyte count traits OBSOLETE. MP:0002601 obsolete lymphocyte count traits OBSOLETE. MP:0002602 abnormal eosinophil cell number deviation from the normal numbers of eosinophils MP:0002603 obsolete basophil count traits OBSOLETE. MP:0002604 obsolete neutrophil count traits OBSOLETE. MP:0002605 obsolete monocyte count traits OBSOLETE. MP:0002606 increased basophil cell number higher than average number of basophils as measured by the percent of the total number of leukocytes MP:0002607 decreased basophil cell number lower than average number of basophils as measured by the percent of the total number of leukocytes MP:0002608 increased hematocrit greater than average percentage of a volume of a blood sample occupied by red blood cells MP:0002609 obsolete blood physiology traits OBSOLETE. MP:0002610 obsolete blood chemistry traits OBSOLETE. MP:0002611 obsolete glucose homeostasis traits OBSOLETE. MP:0002614 obsolete lipid homeostasis traits OBSOLETE. MP:0002619 abnormal lymphocyte morphology any structural anomaly of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells MP:0002620 abnormal monocyte morphology any structural anomaly of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood MP:0002621 delayed neural tube closure delay in the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline MP:0002622 abnormal cochlear hair cell morphology any structural anomaly of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve MP:0002623 abnormal vestibular hair cell morphology any structural anomaly of the mechanoreceptor cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear; afferent and efferent nerve fibers of the vestibular nerve end synaptically on them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the statoconial membrane of the maculae and the cupula of the cristae MP:0002624 abnormal tricuspid valve morphology any structural anomaly of the valve that is located between the right atrium and the right ventricle of the heart, and contains three cusps, the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp), attached to the outer fibrous ring (annulus) MP:0002625 heart left ventricle hypertrophy enlargement of heart left ventricular wall from the increase in size of its cells MP:0002626 increased heart rate greater than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute MP:0002627 increased teratoma incidence higher than normal incidence of generally benign germ cell-derived tumors of male or female containing derivatives from all three germ layers with differentiation in the malignant form being poor; malignant tumors are highly metatstatic MP:0002628 hepatic steatosis an accumulation of fat deposits in the liver MP:0002629 hyperactivity elicited by ethanol administration increased activity after ingestion of alcohol MP:0002630 abnormal endocochlear potential any alterations in the electrical potential difference (+80 - 100 mV) between the endolymphatic and perilymphatic compartments of the cochlea; this potential is generated by the stria vascularis MP:0002631 abnormal epididymis morphology any structural anomaly of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens MP:0002632 vestigial tail a trace or rudimentary caudal structure, often a short boneless filament; the degenerated remains of any tail structure MP:0002633 persistent truncus arteriosus complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development MP:0002634 abnormal sensorimotor gating malfunction of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI) MP:0002635 reduced sensorimotor gating attenuation of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI) MP:0002636 delayed vaginal opening the opening of the genital canal in a female occurs at a later than expected age MP:0002637 small uterus reduced size of the female muscular organ of gestation MP:0002638 abnormal pupillary reflex alterations or failure of the pupil to change in diameter as a reflex response to any stimulus MP:0002639 micrognathia abnormally reduced size of the jaws, especially of the mandible MP:0002640 reticulocytosis an increase in the number of circulating reticulocytes, which is normally less than 1 per cent of the total number of red blood cells MP:0002641 anisopoikilocytosis presence in blood of RBCs of abnormal shapes and sizes MP:0002642 anisocytosis considerable variation of the size of red blood cells compared to a normal range MP:0002643 poikilocytosis blood cells of variable shape on smear MP:0002644 decreased circulating triglyceride level reduced concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver MP:0002645 abnormal intestinal cholesterol absorption any anomaly in the ability of the body to take up cholesterol into the blood by absorption from the small intestine MP:0002646 increased intestinal cholesterol absorption augmented ability of the body to take up cholesterol into the blood by absorption from the small intestine MP:0002647 decreased intestinal cholesterol absorption reduced ability of the body to take up cholesterol into the blood by absorption from the small intestine MP:0002648 delaminated enamel separation of the hard outer coating of the exposed portion of the tooth from the underlying hard tissue MP:0002649 abnormal enamel rod pattern any anomaly in the orientation of the structural unit of tooth enamel MP:0002650 abnormal ameloblast morphology any structural anomaly of the tall, columnar, polarized epithelial cell in the innermost layer of the enamel organ (inner enamel epithelium) of a developing tooth, involved with the formation of enamel matrix MP:0002651 abnormal sciatic nerve morphology any structural anomaly of the nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity MP:0002652 thin myocardium reduced thickness of the cardiac muscle layer MP:0002653 abnormal ependyma morphology any structural anomaly of the cellular membrane that lines the brain ventricles and the central canal of the spinal cord MP:0002654 spongiform encephalopathy a neurodegenerative state characterized by the appearance of large vacuolated areas in the brain cells, resembling a sponge MP:0002655 abnormal keratinocyte morphology any structural anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum MP:0002656 abnormal keratinocyte differentiation developmental anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum MP:0002657 chondrodystrophy abnormal development of the cartilage primordia of long bones, resulting in abnormally short extremities but normal head and trunk MP:0002658 abnormal liver regeneration anomaly in the renewal, repair, and/or regrowth of liver tissue following injury or disease MP:0002659 pituitary gland hypoplasia decrease in the number of normal cells in normal arrangement in the pituitary, typically resulting in decreased size MP:0002660 abnormal caput epididymis morphology any structural anomaly of the head of the epididymis MP:0002661 abnormal corpus epididymis morphology any structural anomaly of the body of the epididymis MP:0002662 abnormal cauda epididymis morphology any structural anomaly of the tail of the epididymis MP:0002663 absent blastocoele developmental anomaly resulting in the absence of the cavity in the blastocyst of the developing embryo MP:0002664 decreased circulating adrenocorticotropin level decreased concentration in the blood of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex MP:0002665 decreased circulating corticosterone level less than the normal blood amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion MP:0002666 increased circulating aldosterone level increased in the blood concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule MP:0002667 decreased circulating aldosterone level decreased in the blood concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule MP:0002668 abnormal circulating potassium level anomalous concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle MP:0002669 abnormal scrotum morphology any structural anomaly of the external sac of skin that encloses the testes MP:0002670 absent scrotum missing the external sac of skin that encloses the testes MP:0002671 belted the appearance of a stripe of white fur around the circumference of the abdomen MP:0002672 abnormal pharyngeal arch artery morphology any structural anomaly of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels MP:0002673 abnormal sperm number increased or decreased numbers of spermatozoa MP:0002674 abnormal sperm motility anomalies in the mobility of the spermatozoa MP:0002675 asthenozoospermia loss or reduction of the mobility of the spermatozoa, frequently associated with infertility MP:0002676 uterus hyperplasia increase in the number of normal cells in normal arrangement in the uterus, typically resulting in increased size MP:0002678 increased follicle recruitment greater frequency of the entry of arrested primordial follicles into the pool of growing follicles MP:0002679 abnormal corpus luteum morphology any structural anomaly of the yellow endocrine body formed in the ovary after follicle rupture MP:0002680 decreased corpora lutea number fewer than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrous cycle MP:0002681 increased corpora lutea number greater than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrous cycle MP:0002682 decreased mature ovarian follicle number fewer than normal numbers of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle MP:0002683 delayed fertility ability to produce live offspring occurring at a later than expected age MP:0002685 abnormal spermatogonia proliferation anomaly in the proliferation of the spermatogonial stem cells either due to abnormal mitosis or apoptosis MP:0002686 globozoospermia any structural anomaly of the acrosome resulting in a round sperm head MP:0002687 oligozoospermia reduced concentration of spermatozoa in the cauda epididymis or seminal fluid MP:0002688 obsolete increased sensitivity to addictive substance OBSOLETE. decreased threshold to obtain a physiological or behavioral response to an addictive substance MP:0002689 abnormal molar morphology any structural anomaly of the most posterior teeth located on either side of the jaw, characterized by a large crown and broad chewing surface MP:0002690 akinesia acquired absence of voluntary movement or loss of the ability to move such as temporary or prolonged paralysis or freezing in place MP:0002691 small stomach reduced size of the stomach MP:0002693 abnormal pancreas physiology any functional anomaly of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MP:0002694 abnormal pancreas secretion anomaly in the production and/or release of biologically active substances from pancreatic tissue MP:0002695 abnormal circulating glucagon level anomaly in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes MP:0002696 decreased circulating glucagon level reduction in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes MP:0002697 abnormal eye size deviation from the average range of eye size for a given organism MP:0002698 abnormal sclera morphology any structural anomaly of the fibrous, outer envelope of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea MP:0002699 abnormal vitreous body morphology any structural anomaly of the transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina MP:0002700 increased opacity of vitreous body the transparent gel filling the inner portion of the eyeball between the lens and retina becomes cloudy and impervious to light MP:0002702 decreased circulating free fatty acids level lower than normal levels of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacylglycerols are taken into tissues MP:0002703 abnormal renal tubule morphology any structural anomaly of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule MP:0002704 tubular nephritis inflammation of the renal tubules MP:0002705 dilated renal tubule stretched or widened aperture of the luminal space of one or more of the loops of Henle, proximal convoluted tubules or distal convoluted tubules MP:0002706 abnormal kidney size anomalous physical bulk one or both of the organs responsible for urine secretion MP:0002707 abnormal kidney weight anomaly in the average weight of the organs responsible for urine secretion MP:0002708 nephrolithiasis calculi (stones) occurring in the kidney MP:0002710 increased glucagon secretion greater than normal production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes MP:0002711 decreased glucagon secretion reduction in the production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes MP:0002712 increased circulating glucagon level increase in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes MP:0002713 abnormal glycogen catabolism inability to breakdown glycogen; or reduced or increased rate of glycogen breakdown MP:0002714 increased glycogen catabolism rate increased breakdown of this highly branched polysaccharide composed of glucose subunits; glycogen is the major carbohydrate storage form in the body MP:0002715 decreased glycogen catabolism rate decreased breakdown of this highly branched polysaccharide composed of glucose subunits; glycogen is the major carbohydrate storage form in the body MP:0002716 small male preputial gland reduced size of the sebaceous glands of the corona and neck of the glans penis MP:0002717 abnormal male preputial gland morphology any structural anomaly of the paired, lobulated, modified sebaceous glands of the corona, the neck of the glans penis, and the inner surface of the prepuce with pheromonal functions in male rodents; male preputial secretions strongly attract females, may accelerate estrus, and have been implicated in intermale aggression; homologous to the clitoral glands (aka female preputial glands) in female rodents; there is no true anatomical equivalent in humans MP:0002718 abnormal inner cell mass morphology any structural anomaly of the cells of the blastocyst that develop into the body of the embryo and some extraembryonic tissues MP:0002720 obsolete urogenital system: dysmorphology OBSOLETE. abnormal development of the urogenital system resulting in morphological abnormality MP:0002721 obsolete abnormal urogenital system physiology OBSOLETE. MP:0002722 abnormal immune system organ morphology any structural anomaly of lymphoid organs MP:0002723 abnormal immune serum protein physiology abnormal concentration or function of circulating immune proteins MP:0002724 enhanced wound healing increased ability to self-repair and close wounds MP:0002725 abnormal vein morphology any structural anomaly of the blood vessels that carry blood towards the heart MP:0002726 abnormal pulmonary vein morphology any structural anomaly of the veins that return oxygenated blood from the lungs to the left atrium of the heart MP:0002727 decreased circulating insulin level less than normal levels of insulin in the blood MP:0002728 absent tibia missing the medial and larger of the two bones of the lower leg MP:0002729 abnormal inner ear canal morphology any structural anomaly of the tubular ducts of the inner ear MP:0002730 head shaking repetitive movement of the head in the horizontal plane MP:0002731 megacolon extreme dilation of the colon MP:0002732 increased trichoepithelioma incidence greater than the expected number of benign hair follicle tumors that lack mature hair follicles, derived from basal cells of the hair follicles enclosing small keratin cysts, occurring in a specific population in a given time period MP:0002733 abnormal thermal nociception abnormal capability to sense pain elicited by thermal stimulation MP:0002734 abnormal mechanical nociception abnormal capability to sense pain elicited by mechanical stimulation MP:0002735 abnormal chemical nociception abnormal capability to sense pain elicited by chemical stimulation MP:0002736 abnormal nociception after inflammation changes in pain thresholds after inflammation MP:0002738 hyperresponsive to tactile stimuli exaggerated reflex action normally induced by touch or pain MP:0002739 abnormal olfactory bulb development abnormality in the progression of the formation of the olfactory bulb MP:0002740 heart hypoplasia decrease in the number of normal cells in normal arrangement in the heart, typically resulting in decreased size MP:0002741 small olfactory bulb reduced size of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex MP:0002742 enlarged submandibular lymph nodes increased size of the submandibular lymph nodes MP:0002743 glomerulonephritis inflammation and scarring damage to the glomerulus usually resulting from an autoimmune response; often characterized by decreased production of urine, the presence of blood and protein in the urine, and/or by edema; often leads to kidney failure MP:0002745 abnormal atrioventricular valve morphology any structural anomaly of the valves that gate the flow of blood from the atria into the ventricles MP:0002746 abnormal semilunar valve morphology any structural anomaly of the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk MP:0002747 abnormal aortic valve morphology any structural anomaly of the valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle, and contains three cusps, the posterior (non-coronary), right anterior and left anterior cusps, attached to an outer fibrous ring (annulus) MP:0002748 abnormal pulmonary valve morphology any structural anomaly of the valve between the right ventricle and the pulmonary trunk, and contains three cusps, the anterior, right posterior and left posterior cusps, attached to an outer fibrous ring (annulus) MP:0002750 exophthalmos forward displacement, bulging, or protrusion of one or both eyeballs MP:0002751 abnormal autonomic nervous system morphology any structural anomaly of the function of the sensory and motor neurons that run between the central nervous system (especially the hypothalamus and medulla oblongata) and various internal organs (heart, lungs, endocrine and exocrine glands), responsible for controlling involuntary bodily functions MP:0002752 abnormal somatic nervous system morphology any structural anomaly of the part of the peripheral nervous system that is responsible for conveying voluntary motor and external sensory information, including all nerves controlling the skeletal muscular system and external sensory receptors (including balance, smell, sight, taste, touch and hearing sensory inputs) MP:0002753 dilated heart left ventricle the luminal space of the lower left chamber of the heart is increased in volume or area, usually with an increase in contained fluid MP:0002754 dilated heart right ventricle the luminal space of the lower right chamber of the heart is increased in volume or area, usually with an increase in contained fluid MP:0002756 obsolete decreased pyramidal neuron number OBSOLETE. fewer than average number of projection neurons in the hippocampus MP:0002757 decreased vertical activity lesser than average time spent jumping or rearing MP:0002758 long tail increased length of tail relative to average of a given reference population MP:0002759 abnormal caudal vertebrae morphology any structural anomaly of the bony segments of the coccyx or tail MP:0002760 obsolete ectopic pyramidal neurons OBSOLETE. abnormal position of one or more triangular shaped projection neurons in the hippocampus MP:0002761 abnormal hippocampal mossy fiber morphology absence or misprojection of axons of neuronal cells in the dentate gyrus MP:0002762 ectopic cerebellar granule cells granule cell body resides in a place other than the external or internal granule layer of the cerebellum MP:0002763 ectopic Bergmann glia cells abnormal position of one or more astrocyte-type glia cells associated with Purkinje cells in the cerebellum MP:0002764 short tibia reduced length of the medial and larger bone of the lower leg MP:0002765 short fibula reduced length of the lateral and smaller of bone of the lower leg MP:0002766 situs inversus lateral transposition or mirroring of the viscera of the thorax and abdomen, sometimes incomplete, with all organs maintaining the normal relative position with respect to each other MP:0002767 situs ambiguus an abnormality in which the thoracic and abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements MP:0002768 small adrenal glands reduced size of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla MP:0002769 abnormal vas deferens morphology any structural anomaly of the secretory duct of the testicle that carries spermatozoa, running from the epididymis, of which it is the continuation, to the prostatic urethra where it terminates to form ejaculatory duct MP:0002770 absent bulbourethral gland absence of any of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; they secrete a clear fluid known as pre-ejaculate (Cowper's fluid), and are homologous to the greater vestibular (Bartholin's) glands in the female MP:0002771 absent prostate gland anterior lobe absence of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles MP:0002772 brachypodia decreased length of the autopod MP:0002773 decreased circulating luteinizing hormone level lower than normal levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary MP:0002774 small prostate gland reduced size of the gland in males that secretes part of the seminiferous fluid MP:0002776 increased Sertoli cell number increased number of the supporting cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis MP:0002777 absent ovarian follicles absence of the sac-like structure in the ovary which surrounds an ovum MP:0002778 meroanencephaly type of anencephaly in which the brain and cranium are present in rudimentary form MP:0002779 abnormal sex gland secretion anomaly in the production and/or release of hormones from a cell or a gland of the reproductive system MP:0002780 decreased circulating testosterone level reduction in the blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females MP:0002781 increased circulating testosterone level greater than the normal blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females MP:0002782 abnormal testes secretion anomaly in the production and/or release of hormones from testicular tissue MP:0002783 abnormal ovary secretion anomaly in the production and/or release of hormones from ovarian tissue MP:0002784 abnormal Sertoli cell morphology any structural anomaly of the supporting cells of the seminiferous tubule epithelium that create the blood-testes barrier and enable spermatogenesis MP:0002785 absent Leydig cells lack of the interstitial cells of the seminiferous tubules that secrete testosterone MP:0002786 abnormal Leydig cell morphology any structural anomaly of the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone (LH); Leydig cells are polyhedral in shape, display a large prominent nucleus, an eosinophilic cytoplasm and numerous lipid-filled vesicles MP:0002787 pseudohermaphroditism unambiguous gonadal sex (i.e. possesses either testes or ovaries, consistent with chromosomal sex) but has ambiguous secondary sexual characteristics MP:0002788 female pseudohermaphroditism pseudohermaphroditism in which the gonads are female (ovaries) and the karyotype is XX but the secondary sex characteristics are male-like or ambiguous MP:0002789 male pseudohermaphroditism pseudohermaphroditism in which the gonads are male (testes) and the karyotype is XY but the secondary sex characteristics are female-like or ambiguous MP:0002790 decreased circulating follicle stimulating hormone level less than expected blood concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis MP:0002791 steatorrhea passage of large amounts of fat in the feces due to the inability to digest and absorb it MP:0002792 abnormal retina vasculature morphology any anomaly of the structure or arrangement of blood vessels supplying the retina MP:0002794 lenticonus a conical bulging of the lens capsule and the underlying cortex of the eye MP:0002795 dilated cardiomyopathy decreased function of the heart associated with cardiac enlargement and congestive heart failure MP:0002796 impaired skin barrier function impaired ability of the skin to regulate water loss; frequently leads to dehydration MP:0002797 increased thigmotaxis greater than average preference for staying at the perimeter walls of an open area or in an enclosed versus exposed area; may be used as an indicator of increased anxiety response MP:0002798 abnormal active avoidance behavior anomaly in the ability to escape a hostile environment to actively avoid the unpleasant or punishing stimuli ( e.g. shock) previously encountered in this environment MP:0002799 abnormal passive avoidance behavior anomaly in the ability of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously with prolonged latency MP:0002800 abnormal short-term object recognition memory anomaly in the short-term memory for objects is established during the first few minutes after training MP:0002801 abnormal long-term object recognition memory anomaly in long-term memory for objects that is consolidated over hours and days after training MP:0002802 abnormal discrimination learning anomaly in the ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus MP:0002803 abnormal operant conditioning behavior anomaly in the operant conditioning system refers to abnormalities in scheduled controlled behavior; behavioral assessment occurs in an automated chamber where responses are reinforced with food MP:0002804 abnormal motor learning anomaly in the ability to repeat a motor task requiring well coordinated movements and balance; measures cerebellar dependent learning MP:0002805 abnormal conditioned taste aversion behavior anomaly in the ability of an animal to learn to avoid food sources that were previously associated with aversive internal stimuli or sickness such as a drug that induces sickness MP:0002806 abnormal conditioned emotional response anomaly in an emotional response that has been acquired by conditioning MP:0002807 abnormal eye blink conditioning behavior anomaly in the ability of an animal to learn to blink in anticipation of an aversive stimulus (e.g., an air puff to the eyelid) following repeated pairings with a neutral stimulus (e.g., a tone); such learning is only adaptive if the animal is able to learn the precise timing between the conditioned and unconditioned stimuli MP:0002808 abnormal barbering behavior anomaly in the behavior of plucking of fur/hair or whiskers/vibrissae from other individuals of a cohort (hetero-barbering) or oneself (self-barbering); it is recognized as patches of unevenly chopped hair and the underlying skin is seldom inflamed MP:0002809 increased spinal cord size larger appearance of the spinal cord MP:0002810 microcytic anemia a reduction in the mean total mass of erythrocytes in which the remaining circulating erythrocyte corpuscular volume is smaller than normal; most commonly due to iron deficiency but also sickle cell disease and other conditions that result in hemoglobin synthesis failure or insufficiency MP:0002811 macrocytic anemia deficiency of red blood cells in which the remaining circulating erythrocyte corpuscular volume is larger than normal; most commonly due to megaloblastic anemia, or a deficiency of either vitamin B12 or folic acid MP:0002812 spherocytosis the presence of sphere-shaped erythrocytes in the circulating blood MP:0002813 microcytosis the presence of unusually small erythrocytes in the circulating blood MP:0002814 hyperchromasia increased capacity of a cell to stain with dye; usually refers to staining of cell nuclei with hematoxylin MP:0002816 colitis local accumulation of fluid, plasma proteins, and leukocytes in the colon region of the large intestine MP:0002817 abnormal tooth mineralization abnormalities in the process by which calcium salts are deposited into the dental enamel, dentin and cementum MP:0002818 abnormal dentin morphology any structural anomaly in the hard portion of the tooth surrounding the pulp, covered by enamel on the crown and cementum on the root MP:0002819 abnormal dental pulp cavity morphology any structural anomaly of the central space (cavity) of a tooth that is bounded by dentin and contains the dental pulp; the portion of the cavity within the crown of the tooth is the pulp chamber; the portion within the root is the pulp canal or root canal MP:0002820 abnormal premaxilla morphology any structural anomaly of the anterior and inner portion of the maxilla MP:0002822 catalepsy a condition characterized by inactivity, lack of response to stimuli, and a tendency to maintain an immobile posture; the limbs tend to remain in whatever position they are placed (waxy rigidity); occurs with some psychoses, nervous system drug toxicity, and other conditions MP:0002823 abnormal rib development anomalous formation of the bones forming the bony wall of the chest MP:0002824 abnormal chorioallantoic fusion anomaly in the process by which a highly vascularized extra-embryonic fetal membrane is formed by fusion of the chorion and allantois; in most mammals, the chorioallantois constitutes the fetal portion of the placenta MP:0002825 abnormal notochord morphology any structural anomaly of the axial fibrocellular cord in embryos around which develops the vertebral primordia MP:0002826 tonic seizures increased number or decreased threshold for the induction of a seizure characterized by muscle rigidity MP:0002827 abnormal renal corpuscle morphology any structural anomaly of the structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron MP:0002828 abnormal renal glomerular capsule morphology any structural anomaly of the expanded beginning of a nephron that contains the glomerulus MP:0002829 abnormal juxtaglomerular apparatus morphology any structural anomaly of the complex of modified smooth muscle cells consisting of juxtaglomerular cells, extraglomerular mesangium lacis cells, the macula densa of the distal convoluted tubule, and granular epithelial peripolar cells; these cells are found in the walls of afferent and efferent glomerular arterioles MP:0002830 gallstones caliculi in the gallbladder or a bile duct; chemical composition of cholesterol, calcium carbonate or calcium bilirubinate MP:0002831 absent Peyer's patches lymphoid tissue missing from the mucosa of the small intestine MP:0002832 coarse hair hair shafts that are twisted or coiled and are of uneven thickness produce an overall rugged or uneven appearance and roughness to the touch MP:0002833 increased heart weight greater than average weight of the heart compared to controls MP:0002834 decreased heart weight less than average weight of the heart compared to controls MP:0002835 abnormal cranial suture morphology any structural anomaly of the dense, fibrous connective tissue joint between the bones of the head MP:0002836 abnormal chorion morphology any structural anomaly of the outermost extraembryonic membrane MP:0002837 dystrophic cardiac calcinosis a condition characterized by the localized deposition of calcium salts in the heart; often occurring in association with inflammation or atherosclerotic lesions and other pathological states MP:0002838 decreased susceptibility to dystrophic cardiac calcinosis less likely to be stricken by dystrophic cardiac calcinosis MP:0002839 increased susceptibility to dystrophic cardiac calcinosis more likely to be stricken by dystrophic cardiac calcinosis MP:0002840 abnormal lens fiber morphology any structural anomaly of the elongated cells of the crystalline lens of the eye MP:0002841 impaired skeletal muscle contractility inability or reduced ability of the skeletal muscle to shorten or to develop increased tension MP:0002842 increased systemic arterial blood pressure increased tension of the blood within the systemic arteries MP:0002843 decreased systemic arterial blood pressure decreased tension of the blood within the systemic arteries MP:0002844 aortic hypertrophy increase in the bulk size of the aorta MP:0002845 abnormal aortic weight anomaly in the average weight of the aorta MP:0002846 abnormal aortic mass altered physical volume or bulk of the aorta MP:0002847 abnormal renal glomerular filtration rate anomaly in the rate of the process in which plasma is filtered through the glomerular membrane, which consists of capillary endothelial cells, the basement membrane, and epithelial cells; the glomerular filtrate is the same as plasma except it has no significant amount of protein MP:0002848 obsolete increased surface glomeruli OBSOLETE. MP:0002849 abnormal saccharin consumption anomaly in the amount of saccharin consumed in relation to other food MP:0002850 saccharin preference subjects demonstrate predilection for saccharine over other offered substance MP:0002851 abnormal circulating sulfate level altered concentration of sulfate in the blood MP:0002852 hypersulfatemia abnormally high concentration of sulfate in the circulating blood MP:0002853 hyposulfatemia abnormally low concentration of sulfate in the circulating blood MP:0002855 abnormal cochlear ganglion morphology any structural anomaly of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve) MP:0002856 abnormal vestibular ganglion morphology any structural anomaly of the group of neurons associated with the vestibular part of the eighth cranial nerve that are involved in equilibration MP:0002857 cochlear ganglion degeneration loss of neural cell bodies in the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain MP:0002858 abnormal posterior semicircular canal morphology any structural anomaly of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance MP:0002859 abnormal inner ear canal fusion any structural anomaly or mistiming of the fusion of the canal primordia during development MP:0002861 abnormal tail bud morphology anomalous formation of the primordial region of the embryo that arises to form the tail of the adult; appears approximately ten days following conception as a short stump, and then initiates elongation and thinning in normal development MP:0002862 abnormal righting response altered ability or changed amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position MP:0002863 improved righting response faster ability or less amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position MP:0002864 abnormal ocular fundus morphology any structural anomaly of the posterior concave interior of the eye, consisting of the retina, the choroid, the posterior segment of the sclera, the optic disk, and blood vessels, visible by an ophthalmoscope MP:0002865 increased growth rate reduced length of time to reach a developmental stage or stages MP:0002866 abnormal glutamic acid decarboxylase level aberrant concentration of the enzyme that catalyzes the conversion of glutamate to gamma-aminobutyric acid (GABA) and carbon dioxide, and regulates GABA levels in nervous tissues MP:0002867 increased glutamic acid decarboxylase level greater than normal concentration of the enzyme that catalyzes the conversion of glutamate to gamma-aminobutyric acid (GABA) and carbon dioxide and regulates GABA levels in nervous tissues MP:0002868 decreased glutamic acid decarboxylase level less than normal concentration of the enzyme that catalyzes the conversion of glutamate to gamma-aminobutyric acid (GABA) and carbon dioxide, and regulates GABA levels in nervous tissues MP:0002869 increased anti-insulin autoantibody level elevated level of antibodies to insulin present in the sera MP:0002870 decreased anti-insulin autoantibody level reduced level of antibodies to insulin present in the sera MP:0002871 albuminuria presence of excess albumin in the urine MP:0002872 polycythemia an excess of circulating red blood cells MP:0002873 normal phenotype no phenotypic distinctions from controls MP:0002874 decreased hemoglobin content decrease in the total hemoglobin content in the circulating blood MP:0002875 decreased erythrocyte cell number reduced number of the cells that transport oxygen, red blood cells, per unit MP:0002876 abnormal thyroid gland physiology any functional anomaly of this endocrine gland that normally produces hormones that regulate the metabolic rate of the body MP:0002877 abnormal melanocyte morphology any structural anomaly of the cells that produce pigment MP:0002878 abnormal corticospinal tract morphology any structural anomaly of the corticospinal fibers that arise from the pyramidal cells within the cerebral cortex layer V of the precentral motor area, the premotor area and the postcentral gyrus, then descend into and through the medulla to form the lateral corticospinal tract and the anterior corticospinal tract MP:0002879 increased cellular sensitivity to X-ray irradiation increased incidence of cell death following exposure to X-ray irradiation MP:0002880 opisthotonus a form of tetanic spasm in which the head, neck and spine are bent backward and the body is bowed forward MP:0002881 long hair increased average length of the coat hairs MP:0002882 abnormal neuron morphology any structural anomaly of the cells of the nervous system that receive, conduct, and transmit impulses MP:0002883 chromatolysis the dissolution of the granules of chromophil substance in a nerve cell body that may occur in injured cells or axons MP:0002884 abnormal pharyngeal arch morphology any structural anomaly of the transient structures of the embryo that develop into regions of the head, neck and ears MP:0002885 abnormal AMPA-mediated synaptic currents change in the measured amplitude, current density or duration of response to stimulation of AMPA receptors MP:0002886 abnormal glutamate-mediated receptor currents change in the measured amplitude, current density or duration of response to stimulation of glutamatergic receptors MP:0002887 decreased susceptibility to pharmacologically induced seizures ability to withstand doses of pharmacological drugs that induce seizure activity in normal animals; exhibit a higher threshold to induce seizure activity MP:0002888 abnormal NMDA-mediated synaptic currents change in the measured amplitude, current density or duration of response to stimulation of NMDA receptors MP:0002891 increased insulin sensitivity greater ability to clear glucose from the bloodstream when given insulin than normal; can result in hypoglycemia MP:0002892 decreased superior colliculus size decreased size of the paired superior eminence of the mesencephalic tectum MP:0002893 ketoaciduria elevated amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acetone in the urine, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus MP:0002894 abnormal otolith morphology any structural anomaly of the crystalline particles composed of calcium carbonate and a protein which adhere to the gelatinous membrane of the maculae of the utricle and saccule (otolithic membrane) MP:0002895 abnormal otolithic membrane morphology any structural anomaly of the gelatinous membrane which is supported by the stereocilia of the hair cells of the maculae of the saccule and utriculus of the inner ear; adhering to its surface are numerous calciferous crystalline particles called otoliths (statoconia) MP:0002896 abnormal bone mineralization defect in the process by which minerals are deposited into bone MP:0002897 blotchy skin regions of spotted discoloration appearing in the dermal tissue MP:0002898 absent cartilage absence of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life MP:0002899 fatigue easily exhausted due to mental or physical exertion MP:0002900 abnormal urine phosphate level any change in the amount of phosphate in the urine MP:0002901 increased urine phosphate level an increase in phosphate amount in the urine MP:0002902 decreased urine phosphate level reduced phosphate amount in the urine MP:0002903 abnormal circulating parathyroid hormone level anomaly in the blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body MP:0002904 increased circulating parathyroid hormone level greater blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body MP:0002905 decreased circulating parathyroid hormone level reduction in the blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body MP:0002906 increased susceptibility to pharmacologically induced seizures inability to withstand doses of pharmacological drugs that induce seizure activity in normal animals; exhibit a lower threshold to induce seizure activity MP:0002907 abnormal parturition defect in the process of labor and delivery in female animals MP:0002908 delayed wound healing longer time requirement for the ability to self-repair and close wounds than normal MP:0002909 abnormal adrenal gland physiology any functional anomaly of the suprarenal gland, including the ability to produce and secrete hormones MP:0002910 abnormal excitatory postsynaptic currents any anomaly in the size or duration of currents detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization MP:0002911 abnormal inhibitory postsynaptic potential defect in the membrane potential detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization MP:0002912 abnormal excitatory postsynaptic potential defect in the potential detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization MP:0002913 abnormal PNS synaptic transmission defect in the communication from a neuron to a target across a synapse in the peripheral nervous system MP:0002914 abnormal endplate potential defect in the excitatory response of peripheral synapses to stimulation; these amplitudes are larger than central synapse potentials MP:0002915 abnormal synaptic depression changes in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation MP:0002916 increased synaptic depression increase in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation MP:0002917 decreased synaptic depression decrease in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation MP:0002918 abnormal paired-pulse facilitation defects in the enhanced response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus MP:0002919 enhanced paired-pulse facilitation increase in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to greater increase of neurotransmitter release at the second stimulus MP:0002920 decreased paired-pulse facilitation reduction in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus MP:0002921 abnormal post-tetanic potentiation defects in the size or duration of potentials that persist after tetanic stimulation of central synapses MP:0002922 decreased post-tetanic potentiation reduction in the size or duration of potentials that persist after tetanic stimulation of central synapses MP:0002923 increased post-tetanic potentiation increase in the size or duration of potentials that persist after tetanic stimulation of central synapses MP:0002924 delayed CNS synapse formation increase in time required to complete the process of generating connections between an axon and effector tissue or neuron MP:0002925 abnormal cardiovascular development aberrant formation or incomplete differentiation of the cardiovascular system MP:0002926 aganglionic megacolon extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus MP:0002927 toxic megacolon severe non-obstructive dilation of the colon MP:0002928 abnormal bile duct morphology any structural anomaly of the channels that secrete bile from the liver to the gall bladder and intestines MP:0002929 abnormal bile duct development incomplete or aberrant differentiation of the channels that secrete bile from the liver to the gall bladder and intestines MP:0002930 obsolete hair cell degeneration OBSOLETE. a retrogressive impairment of function, destruction or apoptosis of the sensory epithelial cells of the inner ear MP:0002931 glutaricadicuria an accumulation of an intermediate of tryptophan catabolism in the urine MP:0002932 abnormal joint morphology any structural anomaly of the moveable articulation point of two or more bones MP:0002933 joint inflammation local accumulation of fluid, plasma proteins, and leukocytes in the joints MP:0002934 acute joint inflammation early and often transient reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into the joints; initiated by injury, infection, or local immune response MP:0002935 chronic joint inflammation persistent inflammatory response in the joints, often caused by persistent infection or during an autoimmune response MP:0002936 joint swelling enlargement of the joints, usually due to an accumulation of fluid MP:0002937 synovial hyperemia an increased blood flow to a synovial joint MP:0002938 white spotting the appearance of patches of white fur MP:0002939 head spot the appearance of a round area of white fur on the head MP:0002940 variable body spotting the appearance of patches of white fur at random on the coat MP:0002941 increased circulating alanine transaminase level increased concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction MP:0002942 decreased circulating alanine transaminase level decreased concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction MP:0002943 abnormal lactate dehydrogenase level abnormal level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate MP:0002944 increased lactate dehydrogenase level elevated level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate MP:0002945 abnormal inhibitory postsynaptic currents defect in the size or duration of currents detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization MP:0002946 delayed axon extension an increased amount of time required for an axon to extend from a neuron cell body and find the target MP:0002947 increased hemangioma incidence greater than the expected number of benign tumors characterized by blood-filled spaces lined by benign endothelial cells, occurring in a specific population in a given time period; a cavernous hemangioma is characterized by large endothelial spaces (caverns), and a capillary hemangioma is characterized by small endothelial spaces MP:0002948 abnormal neuron specification defects in the developmental patterning of neurons resulting in ectopic placement, decreased numbers or absence of mature neurons MP:0002949 obsolete abnormal neural crest cells OBSOLETE. defect in the transient and migratory group of cells that emerge from the dorsal region of the neural tube and disperse to many peripheral locations to form various tissues of the adult MP:0002950 abnormal neural crest cell migration any anomaly in the dispersion of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult MP:0002951 small thyroid gland reduced size of the endocrine gland located in the front and to the sides of the upper part of the trachea, and which secretes thyroid hormone and calcitonin MP:0002952 ventricular cardiomyopathy diseases of the ventricles of the heart MP:0002953 thick ventricular wall increased depth of the cardiac wall of the heart ventricles MP:0002954 obsolete abnormal aerobic energy metabolism OBSOLETE. defect in respiratory chain energy production (oxidative metabolism) process in all living cells where oxygen is consumed and carbon dioxide and water are produced MP:0002955 increased compensatory renal growth increased additional growth of a kidney upon removal of the other kidney through surgery or disease MP:0002956 decreased compensatory renal growth decreased additional growth of a kidney upon removal of the other kidney through surgery or disease MP:0002957 increased intestinal adenocarcinoma incidence higher than normal incidence of a malignant neoplasm of epithelial cells in the intestine MP:0002958 cerebral aqueductal stenosis abnormal narrowing or constriction of the cerebral aqueduct that blocks the flow of cerebrospinal fluid (CSF) in the ventricular system MP:0002959 increased urine microalbumin level greater than the normal amount of microalbumin in the urine MP:0002960 decreased urine microalbumin level less than the normal amount of microalbumin in the urine MP:0002961 abnormal axon guidance defect in the signaling mechanisms that allow precise navigation and connections of axonal growth cones to effector tissues MP:0002962 increased urine protein level greater than the normal amount of proteins in the urine MP:0002963 decreased urine protein level less than the normal amount of proteins in the urine MP:0002964 aortic elastic tissue lesions focal pathological changes in the elastic lamella of the main trunk of the arterial system MP:0002965 increased circulating serum albumin level blood serum albumin concentration above the normal range MP:0002966 decreased circulating alkaline phosphatase level reduced concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters MP:0002968 increased circulating alkaline phosphatase level elevated concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters MP:0002969 impaired social transmission of food preference defect in the ability to recall and prefer foods associated with odors recently smelled on the breath of other mice; an indicator of defects in learning and memory of olfactory cues MP:0002970 abnormal white adipose tissue morphology any structural anomaly of the connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels MP:0002971 abnormal brown adipose tissue morphology any structural anomaly of the thermogenic form of adipose tissue that is composed of brown adipocytes MP:0002972 abnormal cardiac muscle contractility altered ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume MP:0002975 vascular smooth muscle hypertrophy increase in size or thickness of the smooth muscle of the vascular wall MP:0002976 vascular smooth muscle hypotrophy decrease in size or thickness of the smooth muscle of the vascular wall MP:0002977 obsolete abnormal patterning of the aortic arch OBSOLETE. abnormal development or differentiation of the convex portion of the aorta between the ascending and descending parts of the aorta MP:0002978 absent otoliths absence of the crystalline calciferous particles adhering to the otolithic membrane MP:0002979 obsolete abnormal vestibular response OBSOLETE. abnormal response to changes in motion MP:0002980 abnormal postural reflex any anomaly in the responses that control the normal position of the trunk and extremities and/or posture MP:0002981 increased liver weight a greater than average weight of the bile-secreting exocrine gland MP:0002982 abnormal primordial germ cell migration any anomaly in the orderly movement of a primordial germ cell, a cell specialized to produce haploid gametes, from one site to another during development MP:0002983 increased retina ganglion cell number greater number of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain MP:0002984 retina hypoplasia decrease in the number of normal cells in normal arrangement in the retina, typically resulting in decreased size MP:0002985 abnormal urine calcium level any change in the amount of calcium in the urine MP:0002986 decreased urine calcium level abnormally low amounts of calcium in the urine MP:0002987 abnormal urine osmolality changes in the amount of ions in the urine compared to the normal state MP:0002988 decreased urine osmolality reduction in the amount of ions in the urine compared to the normal state MP:0002989 small kidney reduced physical bulk one or both of the organs responsible for urine secretion MP:0002990 short ureter reduced length of the tube that conducts the urine from the renal pelvis to the bladder MP:0002991 abnormal sebaceous gland physiology any functional anomaly of the holocrine glands that secrete sebum into the hair follicles or in hairless areas into ducts MP:0002992 abnormal sebaceous lipid secretion abnormal function of the sebaceous gland resulting in changes to the lipid profile secreted onto the hair and skin MP:0002993 arthritis autoimmune joint inflammation, marked by changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures MP:0002995 primary sex reversal gonad type is not consistent with chromosomal sex MP:0002996 ovotestis state in which a single recognizable gonad contains both testicular and ovarian tissue MP:0002997 enlarged seminal vesicle increased size of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens MP:0002998 abnormal bone remodeling aberrant process of the continuous turnover of bone matrix and mineral that involves a balance of resorption and reactive bone formation by osteoclasts and osteoblasts, respectively MP:0002999 abnormal bone healing defects in the restoration of integrity to bone after trauma MP:0003005 abnormal hippocampal fimbria morphology any structural anomaly of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which then thickens to form the fornix and fibers of the hippocampal commissure MP:0003006 abnormal hippocampal fornix morphology any structural anomaly of the compact, white, heavily myelinated fiber bundle arising from the Ammon horn of the hippocampus in each cerebral hemisphere and projecting to the hypothalamus and the mammillary body MP:0003007 ectopic thymus ectopic location of the thymus primordium, which normally resides in the superior mediastinum and lower part of the neck MP:0003008 enhanced long-term potentiation greater than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells MP:0003009 abnormal cytokine secretion anomaly in the production or cellular release of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells MP:0003010 decreased mortality induced by ionizing radiation reduced sensitivity to lethal doses of ionizing radiation such as ultraviolet light, X-rays, or gamma rays MP:0003011 delayed dark adaptation increase in time required for the eye to recover its sensitivity in the dark following exposure to bright lights MP:0003012 obsolete no phenotypic analysis Obsolete no description of morphological, physiological or behavioral information presented MP:0003014 abnormal kidney medulla morphology any structural anomaly of the inner portion of the kidney consisting of the renal pyramids MP:0003015 abnormal circulating bicarbonate level aberrant concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood MP:0003016 increased circulating bicarbonate level elevated concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood MP:0003017 decreased circulating bicarbonate level reduced concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood MP:0003018 abnormal circulating chloride level aberrant chloride concentration in the blood MP:0003019 increased circulating chloride level elevated chloride concentration in the blood MP:0003020 decreased circulating chloride level reduced chloride concentration in the blood MP:0003021 abnormal coronary flow rate aberrant rate of blood flow in the blood vessels supplying the heart MP:0003022 increased coronary flow rate elevated rate of blood flow in the blood vessels supplying the heart MP:0003023 decreased coronary flow rate reduced rate of blood flow in the blood vessels supplying the heart MP:0003024 coronary artery stenosis abnormal narrowing or constriction of any of the blood vessels supplying the heart MP:0003025 increased vasoconstriction greater ability to constrict the nonstriated, involuntary muscle tissue of the blood vessels MP:0003026 decreased vasoconstriction reduced ability to constrict the nonstriated, involuntary muscle tissue of the blood vessels MP:0003027 abnormal blood pH regulation anomaly in the function of the buffer systems of the blood in combination with the respiratory and renal systems that control the relative acidity or alkalinity of the blood, as measured by the concentration of the hydrogen ion MP:0003028 alkalosis a pathological condition characterized by a decrease in the hydrogen ion concentration in tissues and in blood; caused by an increase in the concentration of alkaline compounds, or by a decrease in the concentration of acidic compounds or carbon dioxide to the body fluids MP:0003029 alkalemia decreased concentration of H-ion in the blood or a rise in pH in the arterial blood MP:0003030 acidemia increased concentration of H-ion in the blood or a fall below normal in pH in the arterial blood MP:0003031 acidosis a pathological state characterized by an increase in the hydrogen ion concentration in tissues and blood caused by an decrease in the concentration of alkaline compounds, or by a increase in the concentration of acidic compounds or carbon dioxide to the body fluids MP:0003032 hypocapnia reduced concentration of CO2 in the blood, alveoli or other tissues resulting in the decreased pressure of this component of body gases MP:0003033 abnormal pulmonary vascular resistance deviation from the normal force opposing blood flow in the lung blood vessels MP:0003034 increased pulmonary vascular resistance greater than the normal force opposing blood flow in the lung blood vessels MP:0003035 decreased pulmonary vascular resistance less than the normal force opposing blood flow in the lung blood vessels MP:0003036 vertebral transformation homeotic transformation of a specific vertebrae to adopt the fate of another MP:0003037 increased myocardial infarct size increased size of necrotic area of the myocardium resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors MP:0003038 decreased myocardial infarct size decreased size of necrotic area of the myocardium resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors MP:0003039 increased time of peak ischemic contracture increased duration of time from normal necessary to achieve full irreversible contraction of the cardiac muscle in response to myocardial infarction MP:0003040 decreased time of peak ischemic contracture decreased duration of time from normal necessary to achieve full irreversible contraction of the cardiac muscle in response to myocardial infarction MP:0003041 increased time of onset of induced ischemic contracture increased duration of time from normal necessary to initiate the irreversible contraction of the cardiac muscle in response to induced myocardial infarction MP:0003042 decreased time of onset of induced ischemic contracture decreased duration of time from normal necessary to initiate the irreversible contraction of the cardiac muscle in response to induced myocardial infarction MP:0003043 hypoalgesia decreased sensitivity to painful stimuli; can be due to chemical intervention, neuropathies or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area) MP:0003044 impaired basement membrane formation defect in the development of the extracellular supportive tissue closely adjacent to the basal surface of the epithelium of muscle cells, fat cells and Schwann cells, which is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components MP:0003045 obsolete fibrosis invasion of fibrous connective tissue into any organ or multiple organs, often resulting from inflammation or injury MP:0003046 liver cirrhosis liver disease in which the occurrence of fibrotic nodules cause diffuse damage to parenchymal cells, disruptions in microcirculation, vascular anatomy and hepatic architecture, resulting in hepatic dysfunction and ultimately, hepatic failure MP:0003047 abnormal thoracic vertebrae morphology any structural anomaly of any or all of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae MP:0003048 abnormal cervical vertebrae morphology any structural anomaly of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull MP:0003049 abnormal lumbar vertebrae morphology any structural anomaly of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae MP:0003050 abnormal sacral vertebrae morphology any structural anomaly of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae MP:0003051 curly tail a loop or corkscrew-like curl in the tail MP:0003052 omphalocele protrusion of abdominal viscera at the base of the umbilical cord, with a covering membranous sac of peritoneum-amnion, that is caused by a severe body wall defect MP:0003053 delayed tooth eruption postponed onset of the growth of the teeth out of the gums MP:0003054 spina bifida common congenital midline defect of fusion of the vertebral arch MP:0003055 abnormal long bone epiphyseal plate morphology any structural anomaly of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles MP:0003056 abnormal hyoid bone morphology any structural anomaly of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles MP:0003057 abnormal epicardium morphology any structural anomaly of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart MP:0003058 increased insulin secretion greater production or release of this hormone secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids MP:0003059 decreased insulin secretion reduction in the production or release of the hormone secreted by beta cells of the pancreas that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids MP:0003060 increased aerobic running capacity greater ability to run at defined speeds and/or distances compared to controls MP:0003061 decreased aerobic running capacity reduced ability to run at defined speeds and/or distances compared to controls MP:0003062 abnormal coping response altered ability to respond productively to a stressful situation or stimulus, or failure to seek pleasurable stimuli MP:0003063 increased coping response enhanced ability to respond productively to a stressful situation MP:0003064 decreased coping response reduced ability to respond productively to a stressful situation MP:0003065 abnormal liver copper level anomaly in the amount of copper present in the liver tissue MP:0003066 increased liver copper level a greater accumulation of copper in the liver tissue compared to controls MP:0003067 decreased liver copper level a reduced amount of copper in the liver tissue compared to controls MP:0003068 enlarged kidney larger than average size of the kidney MP:0003069 abnormal superior semicircular canal morphology any structural anomaly of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance MP:0003070 increased vascular permeability greater or faster ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases MP:0003071 decreased vascular permeability reduced or slower ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases MP:0003072 abnormal metatarsal bone morphology any structural anomaly in the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges MP:0003073 abnormal metacarpal bone morphology any structural anomaly in the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges MP:0003074 absent metacarpal bones missing all of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges MP:0003075 abnormal response to CNS ischemic injury altered response to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of a tissue in the central nervous system MP:0003076 increased susceptibility to ischemic brain injury more severe response, such as increased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of all or part of the brain compared to controls MP:0003077 abnormal cell cycle failure to progress or abnormal progression through the stages of the cell cycle MP:0003078 aphakia absence of the crystalline lens of the eye MP:0003079 decreased susceptibility to induced joint inflammation reduced or absent inflammatory response in the joints due to chemical or mechanical agents MP:0003080 increased natural killer cell mediated cytotoxicity increased ability of directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors MP:0003081 abnormal soleus morphology any structural anomaly of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot MP:0003082 abnormal gastrocnemius morphology any structural anomaly of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles MP:0003083 abnormal tibialis anterior morphology any structural anomaly of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot MP:0003084 abnormal skeletal muscle fiber morphology any structural anomaly of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles MP:0003085 abnormal egg cylinder morphology any structural anomaly in the transient cup-like structure of the epiblast that consists of a single layer of embryonic cells MP:0003086 hydromyelia increased fluid in the central canal of the spinal cord MP:0003087 absent allantois missing fetal membrane which contributes to the formation of the umbilical cord and placenta MP:0003088 abnormal prepulse inhibition anomaly in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus MP:0003089 decreased skin tensile strength reduction in the normal maximum tension the skin can withstand without tearing MP:0003090 abnormal muscle precursor cell migration defects in the movement of cells that will develop into muscle cells out of the somites and/or to the appropriate location in the body MP:0003091 abnormal cell migration any anomaly in the movement of cells from one site to another, often occurring during developmental or chemotactic processes MP:0003092 decreased cornea stroma thickness reduced width of the lamellated connective tissue layer of the cornea MP:0003093 abnormal cornea anterior stroma morphology any structural anomaly of the anterior segment of the lamellated connective tissue layer of the cornea MP:0003094 abnormal cornea posterior stroma morphology any structural anomaly of the posterior segment of the lamellated connective tissue layer of the cornea MP:0003095 abnormal cornea stroma development anomalous differentiation of the lamellated connective tissue layer of the cornea MP:0003096 increased corneal light-scattering anomaly in the normal transmission of light through the cornea; light is reflected or absorbed instead; often due to anomalies in the arrangement of lamella in the corneal stroma MP:0003097 abnormal tendon stiffness altered ability of tendon to maintain tensile strength and load MP:0003098 decreased tendon stiffness reduced ability of tendon to maintain tensile strength and load MP:0003099 retina detachment detachment of the retina from the underlying inner wall of the eye, often from tension of the vitreous; may occur with aging or as a result of trauma MP:0003100 myopia optical condition in which only rays from a finite distance from the eye focus on the retina MP:0003101 high myopia an optical condition involving enlarging of the eye, scleral thinning and frequent detachment of the retina resulting from stress associated with excessive axial elongation MP:0003102 sclera thinning reduction in the width of the fibrous, outer envelope of the eyeball, the sclera may appear blue as a result of the underlying epithelium showing through MP:0003103 liver degeneration deterioration of the liver due to injury or disease, often accompanied by loss of function MP:0003104 acrania complete or partial absence of a skull; usually associated with anencephaly MP:0003105 abnormal heart atrium morphology any structural anomaly of one or both of the two upper chambers of the heart, to which the blood returns from the circulation MP:0003106 abnormal fear-related response altered emotional response related to anticipation of specific pain or danger MP:0003107 abnormal response to novelty alteration in amount of exploration/investigation of a novel object, situation or environment MP:0003108 short zygomatic bone reduced length of the bone that forms the prominence of the cheek MP:0003109 short femur reduced length of the long bone of the thigh MP:0003110 absent malleus processus brevis absence of the short projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane where the tympanic cavity makes a deep pocket (epitympanic pocket) surrounding the cartilaginous nodule MP:0003111 abnormal cell nucleus morphology any structural anomaly of a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated; in most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing, but in some species, or in specialized cell types, RNA metabolism or DNA replication may be absent MP:0003112 enlarged parathyroid gland increased size of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism MP:0003113 small parathyroid gland decreased size of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism MP:0003114 pigmented parathyroid gland presence of melanocytes and/or melanin in either of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism MP:0003115 abnormal respiratory system development aberrant differentiation of pulmonary tissues MP:0003116 rickets overproduction and deficient calcification of osteoid tissue due to vitamin D deficiency; can lead to skeletal deformities, growth defects, hypocalcemia, and sometimes tetany; skeletal fractures occur frequently MP:0003118 obsolete abnormal tracheal-bronchial branching morphogenesis OBSOLETE. partial or complete failure of the trachea and bronchi to repeatedly divide during development of the lung MP:0003119 abnormal digestive system development abnormal formation of the organ system that converts ingested food to nutrients and energy MP:0003120 abnormal tracheal cartilage morphology any structural anomaly of the cartilaginous structures that support the trachea and prevent it from collapsing MP:0003121 genetic imprinting any anomaly in the process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules by a mechanism that is mediated by DNA, is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA sequence MP:0003122 maternal imprinting the establishment of heritable alterations in the activity of a gene that depend on whether it passed through the maternal germline, but that are not encoded by DNA itself MP:0003123 paternal imprinting establishment of heritable alterations in the activity of a gene that depend on whether it passed through the paternal germline, but that are not encoded by DNA itself MP:0003124 hypospadia a urethral opening located below the normal location; in males, the abnormally placed opening is usually on the ventral surface of the penis, and in females, the abnormally placed opening is usually in the vagina MP:0003125 abnormal septation of the cloaca absence of or reduction in the separation of the single opening of the digestive, urinary, and reproductive tracts (cloaca) into multiple isolated openings during development, may result in hypospadia, reduced anogenital distance, or persistent cloaca MP:0003126 abnormal external female genitalia morphology any structural anomaly of the external feminine genital organs, collectively known as the vulva and composed of the mons pubis, the labia majora and minora, the clitoris, the vestibule of the vagina and its glands, and the opening of the urethra and of the vagina MP:0003127 abnormal clitoris morphology any structural anomaly of the small, erectile body located at the anterior end of the vulva MP:0003128 splayed clitoris flattened or spread out clitoris MP:0003129 persistent cloaca persistence of an early embryonic state in which the urinary, genital, and gastrointestinal tracts remain confluent and communicate with the exterior through a single perineal opening; due to failure of the urogenital septum to divide the embryonic cloaca into rectal and urogenital portions MP:0003130 anal atresia congenital absence of an anal opening due to the persistence of the epithelial plug (persistence of the anal membrane) or to complete absence of the anal canal MP:0003131 increased erythrocyte cell number greater number of the cells that transport oxygen, red blood cells, per unit MP:0003132 increased pre-B cell number greater number of progenitor cells that form the B cell component of the immune system MP:0003133 increased early pro-B cell number greater number of cells in the B lymphocyte lineage that undergo D-J rearrangement of the immunoglobulin heavy chain MP:0003134 increased late pro-B cell number greater number of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain MP:0003135 increased erythroid progenitor cell number greater numbers of progenitors of the erythrocyte lineage MP:0003136 yellow coat color amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is maximally increased in agouti hair MP:0003137 abnormal impulse conducting system conduction any functional anomaly in the impulse-conducting system composed of modified cardiac muscle and having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart MP:0003138 absent tympanic ring missing the bony ring at the ear canal to which the tympanic membrane is attached MP:0003139 patent ductus arteriosus failure of the fetal connection between the aorta and pulmonary artery to close after birth MP:0003140 dilated heart atrium the luminal space of one or both of the upper chambers of the heart is increased in volume or area, usually with an increase of contained fluid MP:0003141 cardiac fibrosis formation of fibrous tissue within the heart often resulting from inflammation or injury MP:0003142 anotia congenital absence of one or both auricles of the ears MP:0003143 enlarged otoliths increased average size of the crystalline calciferous particles adhering to the otolithic membrane MP:0003144 decreased otolith number reduced average number of the crystalline calciferous particles adhering to the otolithic membrane MP:0003145 detached otolithic membrane the otolithic (otoconial) membrane is abnormally detached from the underlying neuroepithelium MP:0003146 absent cochlear ganglion absence of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve) MP:0003147 absent cochlea absence or agenesis of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound MP:0003148 decreased cochlea coiling a reduction in cochlear coiling or number of turns; in wild-type mice, the cochlea most commonly exhibits one and three-fourth turns MP:0003149 abnormal tectorial membrane morphology any structural anomaly of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells; sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair cell membrane potential, transducing sound into electrical signals MP:0003150 detached tectorial membrane tectorial membrane is abnormally detached from the cochlear epithelium or spiral limbus MP:0003151 absent tunnel of Corti complete absence of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti MP:0003152 abnormal pillar cell differentiation abnormal differentiation of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti MP:0003153 early eyelid opening early average time for the first postnatal eye opening MP:0003154 abnormal soft palate morphology any structural anomaly of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult MP:0003155 abnormal telomere length abnormal length of the terminal repetitive DNA section of a chromosome that is involved in chromosomal replication and senescence and protects the end of the chromosome from deterioration; normal length is a few hundred base pairs MP:0003156 abnormal leukocyte migration altered ability of blood leukocytes to move within or between different tissues and organs of the body by binding to high endothelial venules (HEV), then tethering and rolling along the luminal aspects of HEV MP:0003157 impaired muscle relaxation reduced or absent ability of muscle to lengthen following contractions MP:0003158 dysphagia difficulty in swallowing food or liquid MP:0003159 abnormal esophageal smooth muscle morphology any structural anomaly of the nonstriated, involuntary muscle tissue lining the esophagus MP:0003160 abnormal esophagus development aberrant formation of the part of the digestive canal through which food passes from the pharynx to the stomach MP:0003161 absent lateral semicircular canal absence of the lateral long bony tube of the labyrinth that is involved in the sense of balance MP:0003162 decreased lateral semicircular canal size small size of the lateral long bony tube of the labyrinth that is involved in the sense of balance MP:0003163 absent posterior semicircular canal absence of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance MP:0003164 decreased posterior semicircular canal size small size of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance MP:0003165 absent superior semicircular canal absence of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance MP:0003166 decreased superior semicircular canal size small size of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance MP:0003167 abnormal scala tympani morphology any structural anomaly of the division of the spiral canal of the cochlea lying on the basal side of the spiral lamina MP:0003168 abnormal scala vestibuli morphology any structural anomaly of the division of the spiral canal of the cochlea lying on the apical side of the spiral lamina and vestibular membrane MP:0003169 abnormal scala media morphology any structural anomaly of the division of the spiral canal of the cochlea that contains the organ of Corti (the neuroepithelial receptor organ for hearing) MP:0003171 phenotypic reversion wild-type phenotype restored from a previously characterized mutant phenotype MP:0003172 abnormal lysosome physiology ability of lysosomes to produce enzymes necessary for digestion of exogenous material is impaired MP:0003173 decreased lysosomal enzyme secretion production or release of glycoprotein hydrolytic enzymes is decreased compared to normal MP:0003174 increased lysosomal enzyme secretion production or secretion of glycoprotein hydrolytic enzymes is increased compared to normal MP:0003175 reversion by mitotic recombination cross-over event between sequences containing mutant and wild-type alleles during DNA replication in a heterozygote resulting in cells with two wild-type alleles MP:0003176 reversion by viral sequence excision restoration of wild-type phenotype by removal of a viral sequence or a viral- related sequence that produced a mutant phenotype MP:0003177 allodynia condition in which nonpainful stimuli evoke a pain sensation MP:0003178 left pulmonary isomerism anomaly in the asymmetry of the lung such that the lobes on both the left and right side have the morphology normally seen on the left side of the body MP:0003179 thrombocytopenia fewer than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation MP:0003180 abnormal pulmonary endothelial cell surface altered morphology or area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell MP:0003181 increased pulmonary endothelial cell surface increased total area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell MP:0003182 decreased pulmonary endothelial cell surface reduced total area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell MP:0003183 obsolete abnormal peptide metabolism anomaly in the biochemical modification and homeostasis of molecules consisting of linked amino acids and their derivatives MP:0003184 increased angiotensin I-converting enzyme activity greater activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin MP:0003185 decreased angiotensin I-converting enzyme activity reduced activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin MP:0003186 abnormal redox activity defect in the processes that maintain the redox environment of a cell or compartment within a cell MP:0003187 obsolete increased reduction OBSOLETE. MP:0003188 obsolete decreased reduction OBSOLETE. MP:0003189 fused joints partial or complete absence of a functional articulation point of two or more bones MP:0003190 fused synovial joints partial or complete absence of separations containing synovial fluid between bones MP:0003191 abnormal cellular cholesterol metabolism impaired regulation of cellular cholesterol levels MP:0003192 increased cholesterol efflux greater level of removal of excess cholesterol from cells by an active transport pathway MP:0003193 decreased cholesterol efflux reduced level of removal of excess cholesterol from cells by an active transport pathway MP:0003194 abnormal frequency of paradoxical sleep abnormal incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity MP:0003195 calcinosis pathologic deposition of calcium salts in tissues MP:0003196 calcified skin pathologic deposition of calcium salts in the skin MP:0003197 nephrocalcinosis diffusely scattered foci of calcification in the renal parenchyma, with microscopic or macroscopic deposits of calcium salts MP:0003198 calcified tendon pathologic deposition of calcium salts in the tendons MP:0003199 calcified muscle pathologic deposition of calcium salts in muscle MP:0003200 calcified joint pathologic deposition of calcium salts in the joints MP:0003201 extremity edema an accumulation of serous fluid in the limbs, paws and tail MP:0003202 abnormal neuron apoptosis change in the timing or the number of neurons undergoing programmed cell death MP:0003203 increased neuron apoptosis increase in the number of neurons undergoing programmed cell death MP:0003204 decreased neuron apoptosis decrease in the number of neurons undergoing programmed cell death MP:0003205 testicular atrophy acquired diminution of the size of the testis associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0003207 decreased cellular sensitivity to gamma-irradiation decreased incidence of cell death following exposure to gamma-irradiation MP:0003208 abnormal neuromere morphology any structural anomaly of the segments of the developing neural tube MP:0003209 abnormal pulmonary elastic fiber morphology any structural anomaly of a slender connective tissue fiber in pulmonary tissue characterized by great elasticity MP:0003210 abnormal heart elastic fiber morphology any structural anomaly of the slender connective tissue fiber in cardiac tissue characterized by great elasticity MP:0003211 abnormal aorta elastic fiber morphology any structural anomaly of the slender connective tissue fiber in aortic tissue characterized by great elasticity MP:0003212 increased susceptibility to age related obesity increased probability of excessive weight gain that is progressive with age MP:0003213 decreased susceptibility to age related obesity reduced probability of excessive weight gain that is progressive with age MP:0003214 neurofibrillary tangles dense intraneuronal accumulations of helical filaments (neurofilaments and microtubules) that assume twisted contorted patterns; found in subclasses of cells of the neocortex, hippocampus, brain stem, and diencephalon in individuals with Alzheimer disease and other tauopathies MP:0003215 renal interstitial fibrosis formation of fibrous tissue within the functional space in the kidney beneath the individual filters (glomeruli) as a result of repair or a reactive process MP:0003216 absence seizures impairment of consciousness without convulsions associated with sudden behavioral arrest and widespread bilaterally synchronous spike-and-wave discharges (SWDs) in the electroencephalogram (EEG) MP:0003217 increased spike-wave discharge type I increase in one type of epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy, characterized by immediate, bilaterally symmetric discharges, generalized over the cortex and lasting longer than spike-wave discharge type II MP:0003218 decreased spike-wave discharge type I decrease in one type of epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy, characterized by immediate, bilaterally symmetric discharges, generalized over the cortex and lasting longer than Spike-wave discharge type II MP:0003219 increased spike-wave discharge type II increase in one type of epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy, characterized by local occipital-parietal discharges that are shorter and have less clear waves than spike-wave discharge type I MP:0003220 decreased spike-wave discharge type II decrease in one type of epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy, characterized by local occipital-parietal discharges that are shorter and have less clear waves than spike-wave discharge type I MP:0003221 abnormal cardiomyocyte apoptosis change in the timing or the number of cardiac muscle cells undergoing programmed cell death MP:0003222 increased cardiomyocyte apoptosis increase in the number of cardiac muscle cells undergoing programmed cell death MP:0003223 decreased cardiomyocyte apoptosis decrease in the number of cardiac muscle cells undergoing programmed cell death MP:0003224 neuron degeneration a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses MP:0003225 axonal dystrophy axon degeneration that may result from genetic abnormalities or inadequate or faulty metabolism MP:0003226 absent cochlear modiolus absence of the central cone shaped core of spongy bone about which turns the spiral canal MP:0003227 abnormal vascular branching morphogenesis increase, decrease or anomaly in the process by which new vessels sprout off pre-existing vessels MP:0003228 abnormal sinus venosus morphology any structural anomaly of the cavity at the caudal end of the embryonic cardiac tube in which the veins from the intra- and extraembryonic circulatory arcs unite; in the adult this becomes the portion of the right atrium known as the sinus of the vena cava MP:0003229 abnormal vitelline vasculature morphology any structural anomaly of the vascular network that supplies the yolk sac MP:0003230 abnormal umbilical artery morphology any structural anomaly of the paired arteries that bring unoxygenated blood back to the placenta from the dorsal aorta through the umbilical cord MP:0003231 abnormal placenta vasculature any structural anomaly of the vessels of the placenta MP:0003232 abnormal forebrain development anomaly in the formation or patterning of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) MP:0003233 prolonged QT interval increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave MP:0003234 enhanced NMDA-mediated synaptic currents increase in the measured amplitude, current density or duration of response to stimulation of NMDA receptors MP:0003235 abnormal alisphenoid bone morphology any structural anomaly of either of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young MP:0003236 abnormal lens capsule morphology any structural anomaly of the elastic, clear, membrane-like structure, that is outer most layer of the lens MP:0003237 abnormal lens epithelium morphology any structural anomaly in the one or more of the layers of epithelial cells in the lens MP:0003238 slow REM decreased rapid, periodic, jerky movement of the eyes from average during certain stages of the sleep cycle when dreaming takes place MP:0003239 fast REM increased rapid, periodic, jerky movement of the eyes from average during certain stages of the sleep cycle when dreaming takes place MP:0003240 loss of hippocampal neurons loss of neurons in the hippocampal region of the brain, commonly due to an apoptotic event MP:0003241 loss of cortex neurons loss of neurons in the cortex region of the brain, commonly due to an apoptotic event MP:0003242 loss of basal ganglia neurons loss of neurons in the basal ganglia of the brain, commonly due to an apoptotic event MP:0003243 abnormal dopaminergic neuron morphology any structural anomaly of the neurons that utilize dopamine as a neurotransmitter MP:0003244 loss of dopaminergic neurons loss of the neurons that utilize dopamine as a neurotransmitter, commonly due to an apoptotic event MP:0003245 abnormal GABAergic neuron morphology any structural anomaly of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter MP:0003246 loss of GABAergic neurons loss of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter, commonly due to an apoptotic event MP:0003247 abnormal glutaminergic neuron morphology any structural anomaly of the neurons that utilize glutamate as a neurotransmitter MP:0003248 loss of glutamate neurons loss of the neurons that utilize glutamate as a neurotransmitter, commonly due to an apoptotic event MP:0003249 increased muscle free fatty acids level greater than normal muscle concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacylglycerols are taken into tissues MP:0003250 absent gallbladder absence of the organ which serves as a storage reservoir for bile MP:0003251 gallbladder inflammation local accumulation of fluid, plasma proteins, and leukocytes in the gall bladder MP:0003252 abnormal bile duct physiology any functional anomaly of the channels that secrete bile from the liver to the gall bladder and intestines MP:0003253 dilated bile duct the luminal space of one or more bile ducts is increased in volume or area, usually with an increase in contained fluid or bile MP:0003254 bile duct inflammation local accumulation of fluid, plasma proteins, and leukocytes in the bile ducts MP:0003255 bile duct proliferation the appearance of an increased number of bile ducts in the liver; a sign of progressive liver disease MP:0003256 biliary cirrhosis liver damage to parenchymal cells due to obstruction of bile flow in the bile ducts MP:0003257 abnormal abdominal wall morphology any structural anomaly of the margins that enclose the abdominal cavity; the major part is muscular but also includes skin, subcutaneous fat, fascia and the parietal peritoneum MP:0003258 hiatal hernia protrusion of abdominal structures through the esophageal hiatus of the diaphragm MP:0003259 nausea gastric discomfort associated with the inclination to vomit MP:0003260 vomiting the retrograde expulsion of gastric contents through the oral cavity MP:0003261 hematemesis vomiting of blood; indicative of bleeding in the upper gastrointestinal tract MP:0003262 intestinal/bowel diverticulum a pouch or sac protruding from the intestinal or bowel wall MP:0003263 obsolete abnormal cholesterol biosynthesis OBSOLETE. altered ability to form cholesterol from constituent compounds MP:0003264 obsolete increased cholesterol biosynthesis OBSOLETE. augmented rate at which cholesterol is formed from constituent compounds MP:0003265 obsolete decreased cholesterol biosynthesis OBSOLETE. reduced rate at which cholesterol is formed from constituent compounds MP:0003266 biliary cyst presence of one or more abnormal fluid-filled sacs within the bile ducts MP:0003267 constipation incomplete, infrequent or difficult evacuation of fecal matter MP:0003268 chronic constipation prolonged or long-term difficulty in evacuation of fecal matter MP:0003269 colon polyps abnormal tissue masses that protrude into the lumen of the colon and are tethered to the wall of the colon MP:0003270 intestinal obstruction any impediment, blockage, or reversal of the normal flow of the intestinal contents toward the anus MP:0003271 abnormal duodenum morphology any structural anomaly of the first division of the small intestine that extends from the pyloris to the junction with the jejunum MP:0003272 duodenal atresia congenital blockage or absence of the lumen of the duodenum MP:0003273 duodenal ulcer a lesion on the mucosal surface of the duodenum, usually produced by the sloughing of inflammatory necrotic tissue MP:0003274 intestinal microaneurysm focal dilation of arteriocapillary junctions in the intestine MP:0003275 gastric microaneurysm focal dilation of arteriocapillary junctions in the stomach MP:0003276 esophageal atresia congenital blockage or absence of the lumen of the esophagus MP:0003277 increased esophageal papilloma incidence higher than normal incidence of a benign epithelial tumor consisting of villous or arborescent outgrowths of fibrovascular stroma of the esophagus MP:0003278 esophageal inflammation local accumulation of fluid, plasma proteins and leukocytes in the esophagus MP:0003279 aneurysm a protruding sac formed by the dilation of the wall of an artery, a vein, or the heart resulting from a weakening of the vessel wall or heart muscle MP:0003280 urinary incontinence inability to control the urinary bladder excretory functions leading to involuntary urination MP:0003281 fecal incontinence inability to control the anal sphincter resulting in the involuntary passage of feces MP:0003282 gastric ulcer a lesion on the mucosal surface of the stomach, usually produced by the sloughing of inflammatory necrotic tissue MP:0003283 abnormal digestive organ placement different location or arrangement of any of the alimentary tract organs MP:0003284 abnormal large intestine placement different location or arrangement of the large intestinal tract MP:0003285 gastric hypertrophy increase in the bulk size of the stomach due to cell enlargement or accumulation of fluids MP:0003286 gastroesophageal reflux retrograde movement of gastric contents into the esophagus MP:0003287 increased intestinal hemangioma incidence greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells in the intestines, occurring in a specific population in a given time period MP:0003288 intestinal edema an accumulation of an excessive amount of serous fluid in the intestine or intestinal cells MP:0003289 abnormal intestinal peristalsis altered intestinal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls of the bowel that move bowel contents forward MP:0003290 intestinal hypoperistalsis reduced intestinal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls of the bowel that move bowel contents forward MP:0003291 interstinal hyperperistalsis increased intestinal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls of the bowel that move bowel contents forward MP:0003292 melena dark colored, foul-smelling feces due to the presence of blood MP:0003293 rectal hemorrhage bleeding in the rectum MP:0003294 intussusception telescoping of the intestine, or the prolapse of one part of the bowel to another; usually results in obstruction MP:0003295 lymphomesenteric cyst cystic mass in the abdominal mesenchyme containing lymph; sometimes becomes calcified MP:0003296 microcolon small, unused colon in neonates, usually due to atresia or other gastrointestinal blockage MP:0003298 choking spasm of the larynx and trachea due to prevention of respiration by compression or obstruction MP:0003299 gastric polyps abnormal tissue masses that protrude into the lumen of the stomach and are tethered to the wall of the stomach MP:0003300 gastrointestinal ulcer any lesion on the mucosal surface of the gastrointestinal tract, usually produced by the sloughing of inflammatory necrotic tissue MP:0003301 peptic ulcer any lesion on the mucosal surface of the portion of the alimentary tract that is exposed to gastric acid, usually in the stomach or the duodenum MP:0003302 perirectal abscess acute focal inflammation of the tissues surrounding the rectum, often with accumulation of purulent material MP:0003303 peritoneal inflammation local accumulation of fluid, plasma proteins, and leukocytes in the membrane that lines the abdominal cavity and covers most of the viscera MP:0003304 large intestinal inflammation local accumulation of fluid, plasma proteins, and leukocytes in the large intestine MP:0003305 proctitis local accumulation of fluid, plasma proteins, and leukocytes in the mucous membrane of the rectum MP:0003306 small intestinal inflammation local accumulation of fluid, plasma proteins, and leukocytes in the small intestine MP:0003307 pyloric stenosis abnormal narrowing or constriction of the gastric outlet of the stomach, often due to muscular hypertrophy or scarring from local inflammation MP:0003308 abnormal cochlear sensory epithelium morphology any structural anomaly of the epithelial cell layer containing the sensory hair cells and their associated sensory nerve terminals MP:0003309 abnormal cochlear modiolus morphology any structural anomaly of the central cone shaped core of spongy bone about which turns the spiral canal MP:0003310 reduced cochlear modiolus a reduction in the volume of the central conical bony pillar of the cochlea MP:0003311 aminoaciduria excretion of amino acids in the urine, especially in excessive amounts MP:0003312 abnormal locomotor coordination reduced ability of an animal to maintain skillful and effective interaction of movements while engaging in behavioral locomotor activity MP:0003313 abnormal locomotor activation altered ability or desire of an animal to initiate locomotor activity MP:0003314 dysmetria an inability to control the range of motion, typified by under- or over-shooting the intended position with the hand, arm, leg or eye MP:0003315 abnormal perineum morphology any structural anomaly of the area between the genital organs and the anus that lies beneath the pelvic diaphragm MP:0003316 perineal fistula an abnormal anatomical passage that connects the perineum to organs such as the bladder or the rectum MP:0003317 anoperineal fistula an abnormal anatomical passage that connects the perineum to the anal canal MP:0003318 rectoperineal fistula an abnormal anatomical passage that connects the perineum to the rectum MP:0003319 anal fistula an abnormal anatomical passage at or near the anus that usually opens into the rectum above the internal sphincter MP:0003320 rectovaginal fistula an abnormal anatomical passage connecting the rectum and the vagina MP:0003321 tracheoesophageal fistula an abnormal passage is present between the esophagus and the trachea; may be acquired or congenital, and is often associated with esophageal atresia MP:0003322 biliary fistula an abnormal anatomical passage that connects any organ of the biliary tract and other organs MP:0003323 gastrocolic fistula an abnormal anatomical passage between the stomach and the colon MP:0003324 increased liver adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the liver, occurring in a specific population in a given time period MP:0003325 decreased liver function reduced normal function of this bile-secreting exocrine gland, which is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage MP:0003326 liver failure cessation of function of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage MP:0003327 liver cyst presence of one or more abnormal membranous sacs in any portion of the liver MP:0003328 portal hypertension elevation of blood pressure in the hepatic portal vein, often a result of cirrhosis or from obstruction of the portal vein MP:0003329 amyloid beta deposits formation of self-assembled aggregates of the cleaved App Abeta protein fragment; often seen in neurodegenerative disorders such as Alzheimer's disease MP:0003330 abnormal auditory tube morphology any structural anomaly in the tube connecting the tympanic cavity and the nasopharynx that allows equalization of pressure between the tympanic cavity and the environment MP:0003331 increased hepatocellular carcinoma incidence greater than the expected number of a malignant neoplasm arising from liver cells, usually in adults and caused by liver trauma due to disease or injury, occurring in a specific population in a given time period MP:0003332 liver abscess collection of purulent exudate within the liver as a result of infection by bacteria, protozoa, or other agents MP:0003333 liver fibrosis invasion of fibrous connective tissue into the liver, often resulting from inflammation or injury MP:0003334 pancreas fibrosis invasion of fibrous connective tissue into the pancreas, often resulting from inflammation or injury MP:0003335 exocrine pancreatic insufficiency inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients MP:0003336 pancreas cyst presence of one or more abnormal fluid-filled sacs within the pancreas MP:0003337 exocrine pancreas hyperplasia increase in the number of normal cells in normal arrangement in the exocrine pancreas, typically resulting in increased size MP:0003338 pancreas lipomatosis an accumulation of abnormally localized or tumor-like fat in the pancreas MP:0003339 decreased pancreatic beta cell number fewer than normal number of the cells of the pancreas that secrete insulin MP:0003340 acute pancreas inflammation early and often transient reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into the pancreas; initiated by injury, infection, or local immune response MP:0003341 chronic pancreas inflammation persistent inflammatory response in the pancreas, often caused by persistent infection or during an autoimmune response MP:0003342 accessory spleen the splenic tissue is divided into equal masses; often related to situs inversus MP:0003344 mammary gland hypoplasia decrease in the number of normal cells in normal arrangement in the mammary gland, typically resulting in decreased size MP:0003345 decreased rib number fewer than normal numbers of the pairs of bony structures that make up the body wall MP:0003346 abnormal pectoral muscle morphology any structural anomaly of the two muscles that make up the upper and fore part of the chest that adduct and rotate the arm and lift the ribs MP:0003347 hyperpituitarism hypersecretion of adenohypophyseal hormones from the glandular, anterior portion of the pituitary; often due to a functional adenoma MP:0003348 hypopituitarism reduction or cessation of secretion of one or more hormones from the anterior pituitary gland; this may result from ablation, tumors, infarction, or other trauma MP:0003349 abnormal circulating renin level aberrant blood level of the enzyme which is secreted by the kidney and cleaves a bond in angiotensionogen to generate angiotensin I MP:0003350 increased circulating levels of thyroid hormone increased concentration of hormones in the blood that are synthesized and secreted by the thyroid MP:0003351 decreased circulating levels of thyroid hormone reduced concentration of hormones in the blood that are synthesized and secreted by the thyroid MP:0003352 increased circulating renin level elevated blood level of the enzyme which is secreted by the kidney and cleaves a bond in angiotensionogen to generate angiotensin I MP:0003353 decreased circulating renin level reduced blood level of the enzyme which is secreted by the kidney and cleaves a bond in angiotensionogen to generate angiotensin I MP:0003354 astrocytosis a proliferation or spread of astrocytes into the area of a degenerative lesion or damaged tissue MP:0003355 decreased ovulation rate reduction in the frequency in which an ovum (or ova) is/are released from a rupturing ovarian follicle(s) MP:0003356 impaired luteinization atypical transformation of the mature ovarian follicle and its theca interna into a corpus luteum after ovulation MP:0003357 impaired granulosa cell differentiation atypical production of or inability to produce the supporting cells for the developing female gamete in the ovary of mammals; granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle MP:0003358 abnormal hypaxial muscle morphology any structural anomaly of the muscles derived from the lateral myotome and lateral portion of the dermomyotome; these include the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue MP:0003359 hypaxial muscle hypoplasia decrease in the number of normal cells in normal arrangement in the hypaxial muscle, typically resulting in decreased size MP:0003360 abnormal depression-related behavior responses to a stressful situation or stimulus, or failure to seek pleasurable stimuli MP:0003361 abnormal circulating gonadotropin level aberrant blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis MP:0003362 increased circulating gonadotropin level greater than the normal blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis MP:0003363 decreased circulating gonadotropin level less than the normal blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis MP:0003364 increased insulinoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the pancreatic islet beta cells, occurring in a specific population in a given time period; these tumors secrete excess insulin MP:0003365 increased glucagonoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the pancreatic islet alpha cells, occurring in a specific population in a given time period; these tumors secrete excess glucagon MP:0003366 abnormal circulating glucocorticoid level aberrant blood concentration of the corticosteroids regulating carbohydrate metabolism and exhibiting anti-inflammatory activity MP:0003367 increased circulating glucocorticoid level greater than normal blood concentration of the corticosteroids regulating carbohydrate metabolism and exhibiting anti-inflammatory activity MP:0003368 decreased circulating glucocorticoid level less than normal blood concentration of the corticosteroids regulating carbohydrate metabolism and exhibiting anti-inflammatory activity MP:0003369 abnormal circulating estrogen level aberration in the blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics MP:0003370 increased circulating estrogen level greater than normal blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics MP:0003371 decreased circulating estrogen level reduction in the blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics MP:0003372 abnormal circulating mineralocorticoid level aberrant blood concentration of corticosteroids that influence water and electrolyte metabolism and balance MP:0003373 increased circulating mineralocorticoid level greater than normal blood concentration of corticosteroids that influence water and electrolyte metabolism and balance MP:0003374 decreased circulating mineralocorticoid level less than normal blood concentration of corticosteroids that influence water and electrolyte metabolism and balance MP:0003375 abnormal menstrual cycle failure of or aberrant timing of a recurring cycle in human primates in which the endometrial lining of the uterus prepares for pregnancy and ovulation occurs; if pregnancy does not occur the lining is discharged at menstruation MP:0003376 amenorrhea absence or abnormal cessation of the shedding of the endometrium and associated bleeding in primates MP:0003377 late onset of menarche the onset of menstrual cycles occurs at a later age than normal MP:0003378 early sexual maturation pubertal changes occur at an earlier than normal age MP:0003379 absent sexual maturation failure to initiate pubertal changes that result in achievement of full sexual capacity MP:0003380 abnormal intestine regeneration anomaly in the renewal, repair, and/or regrowth of intestinal tissue following injury or disease MP:0003381 vitreal fibroplasia production of excess fibrous tissue in the vitreous body of the eye MP:0003382 straub tail condition in which an animal carries its tail in an erect (vertical or nearly vertical) position; often seen upon opioid and other drug treatment MP:0003383 abnormal gluconeogenesis anomaly in the formation of glucose from non-carbohydrates, such as proteins or fat MP:0003384 abnormal ventral body wall morphology any structural anomaly of the anterior portion of a human body or the lower surface of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity MP:0003385 abnormal body wall morphology any structural anomaly of the external portion of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity MP:0003386 obsolete increased sensitivity to nicotine OBSOLETE. decreased threshold to obtain a physiological or behavioral response to nicotine MP:0003387 aorta coarctation a congenital focal constriction of the aorta most commonly found just distal to the origin of the left subclavian artery; the most commonly found form is juxtaductal coarctation, but it may occur at any point from the transverse arch to the iliac bifurcation MP:0003388 absent pericardium absence of the fibroserous membrane covering the heart and beginning of the great vessels MP:0003389 constriction of pericardium tightening of the pericardium around the heart MP:0003390 lymphedema abnormal swelling in the soft tissues of the limbs, or less often the trunk, caused by the buildup of lymph fluid MP:0003391 increased myxoma incidence higher than normal incidence of a benign neoplasm derived from pluripotential mesenchymal stem cells of connective tissue, consisting chiefly of polyhedral and stellate cells that are loosely embedded in a soft mucoid matrix; may show multiple differentiated components MP:0003392 increased atrial myxoma incidence higher than normal incidence of a benign neoplasm derived from pluripotential mesenchymal stem cells of either the left or right atrium connective tissue, consisting chiefly of polyhedral and stellate cells that are loosely embedded in a soft mucoid matrix; an increase in primary intracardiac tumor incidence MP:0003393 decreased cardiac output reduction in the blood volume pumped by each ventricle per minute MP:0003394 increased cardiac output greater than normal blood volume pumped by each ventricle per minute MP:0003395 abnormal subclavian artery morphology any structural anomaly of the right or left subclavian arteries; the right subclavian artery normally extends from the brachiocephalic artery to the right side of the body and the left subclavian artery extends from the aortic arch to the left side of the body MP:0003396 abnormal embryonic hematopoiesis anomaly in the development of primarily large, nucleated erythroblasts as well as some megakaryocytes and primitive macrophages that circulate in the embryonic and extraembryonic tissues, and which occurs in blood islands in the yolk sac from E7-E11 in the mouse and through 10 weeks in humans MP:0003397 increased muscle weight greater than average muscle weight MP:0003398 increased skeletal muscle size greater than average dimensions of one or more of the muscles of the skeleton MP:0003400 kinked neural tube twists or kinks in the embryonic neural tube MP:0003401 enlarged tail bud increased size or area of the primordial region of the embryo that arises to form the tail of the adult MP:0003402 decreased liver weight reduced average weight of the bile-secreting exocrine gland MP:0003403 absent placental labyrinth absence of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood MP:0003404 absent enamel absence of the hard outer coating of the exposed portion of the tooth MP:0003405 abnormal platelet shape any anomaly in the characteristic surface outline or contour of the normal small, disk-like shape of blood plasma cells derived from megakaryocytes and which function to promote blood clotting MP:0003406 failure of zygotic cell division inability of a fertilized oocyte to initiate or complete early cell divisions MP:0003407 abnormal central nervous system regeneration anomaly in the renewal, repair, and/or regrowth of central nervous system tissue following injury or disease MP:0003408 increased width of hypertrophic chondrocyte zone increased width of cartilage cell matrix layer MP:0003409 decreased width of hypertrophic chondrocyte zone decreased width of cartilage cell matrix layer MP:0003410 abnormal artery development anomaly in the process of forming the blood vessels that carry blood away from the heart MP:0003411 abnormal vein development anomaly in the process of forming the blood vessels that carry blood to the heart MP:0003412 abnormal afterhyperpolarization anomaly in the currents that follow an action potential and influence firing frequency and neuronal integration MP:0003413 hair follicle degeneration a retrogressive impairment of function or destruction of the hair follicle MP:0003414 epidermal cyst presence of one or more benign masses derived from the epidermis or the epithelium of a hair follicle, formed by enclosure of epithelium within the dermis and filled with keratin and lipid-rich inclusions MP:0003415 priapism prolonged penile erection, often painful and without sexual desire MP:0003416 premature bone ossification early onset of the formation of bone MP:0003417 premature endochondral bone ossification early onset of bone formation in bones that form from cartilage MP:0003418 premature intramembranous bone ossification early onset of bone formation in bones that form without a cartilaginous intermediate including the cranium and clavicle MP:0003419 delayed endochondral bone ossification late onset of bone formation in bones that form from cartilage MP:0003420 delayed intramembranous bone ossification late onset of bone formation in bones that form without a cartilaginous intermediate including the cranium and clavicle MP:0003421 abnormal thyroid gland development failure or abnormality in the formation of the thyroid gland during organogenesis MP:0003422 abnormal thrombolysis altered ability to break up (lyse) blood clots that are restricting the blood flow MP:0003423 reduced thrombolysis reduced ability or inability to break up (lyse) blood clots that are restricting the blood flow MP:0003424 premature neuronal precursor differentiation earlier than normal transformation of neuronal precursor cells into neurons MP:0003425 abnormal optic vesicle formation anomalous formation of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop MP:0003426 pulmonary interstitial fibrosis formation of fibrous tissue within the interstices of the lung as a result of repair or a reactive process MP:0003427 parakeratosis thickening of the stratum corneum of the epidermis (hyperkeratosis) with nucleated keratinocytes retained in this layer MP:0003429 insensitivity to growth hormone no growth response to exogenous growth hormone MP:0003430 increased pancreatic islet cell adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the islet cells of the pancreas, occurring in a specific population in a given time period MP:0003431 abnormal parathyroid gland physiology any functional anomaly of this paired endocrine gland that normally produces parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism MP:0003432 increased activity of parathyroid increased function of this paired endocrine gland that normally produces parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism MP:0003433 decreased activity of parathyroid reduced function of this paired endocrine gland that normally produces parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism MP:0003434 decreased susceptibility to induced choroidal neovascularization reduction or absence of growth of new, abnormal blood vessels that originate in the choroid through a break in the Bruch membrane into the sub-retinal pigment epithelium or subretinal space and may result in visual loss as a result of chemical or mechanical manipulation (e.g. laser-induced trauma) MP:0003435 herniated seminal vesicle protrusion of the seminal vesicles through the pelvic outlet MP:0003436 decreased susceptibility to induced arthritis less likely to be stricken with changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures that are induced by inflammatory responses caused by chemical or mechanical agents MP:0003437 abnormal carotid body morphology any structural anomaly of a small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control MP:0003438 abnormal carotid body physiology any functional anomaly in a small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control MP:0003439 abnormal glycerol level abnormal level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source MP:0003440 decreased glycerol level reduced level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source MP:0003441 increased glycerol level elevated level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source MP:0003442 decreased circulating glycerol level reduced blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source MP:0003443 increased circulating glycerol level elevated blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source MP:0003444 abnormal neurotransmitter uptake aberration in the reabsorption of endogenous signaling molecules released into a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell MP:0003445 sirenomelia fusion of the caudal-most (posterior or lower) limbs often with partial or complete fusion of the autopods MP:0003446 renal hypoplasia decrease in the number of normal cells in normal arrangement in the kidney, typically resulting in decreased size MP:0003447 decreased tumor growth/size less than expected development of tumorous growth when compared to controls MP:0003448 abnormal tumor morphology any structural anomaly of a given tumor type compared to controls MP:0003449 abnormal intestinal goblet cell morphology any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the small and large intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus; the goblet cell is a highly polarized unicellular exocrine gland with the nucleus and other organelles concentrated at the base of the cell; the remainder of the cell's cytoplasm is occupied by membrane-bound secretory granules containing mucin; the goblet shape is due to the mucus laden granules in the apical part expanding, causing that part of the cell to balloon; the apical plasma membrane projects microvilli to give an increased surface area for secretion MP:0003450 enlarged pancreas increase of the size of the pancreas compared to controls MP:0003451 absent olfactory bulb absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex MP:0003452 abnormal parotid gland morphology any structural anomaly of either of the largest of the major salivary glands situated below and in front of each ear MP:0003453 abnormal keratinocyte physiology abnormal function of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum MP:0003454 erythroderma exfoliation and widespread, intense reddening of the skin due to inflammatory skin disease MP:0003455 decreased susceptibility to induced retina damage reduced or absent pathological changes in the retina due to chemical or mechanical agents MP:0003456 absent tail completely lacking the appendage at the caudal end of the vertebral column MP:0003457 abnormal circulating ketone body level aberrant amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acetone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus MP:0003458 decreased circulating ketone body level less than the normal amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acetone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus MP:0003459 increased fear-related response greater emotional response related to anticipation of specific pain or danger MP:0003460 decreased fear-related response reduced emotional response related to anticipation of specific pain or danger MP:0003461 abnormal response to novel object altered behavioral reaction associated with exposing an animal to a novel object MP:0003462 abnormal response to novel odor altered behavioral reaction associated with exposing an animal to a novel odor MP:0003463 abnormal single cell response altered values from controls obtained upon extra- or intracellular recordings from single cells MP:0003464 abnormal single cell response threshold any change in the value at which a stimulus first elicits a recordable response recorded in a single cell MP:0003465 increased single cell response threshold increase in the value at which a stimulus first elicits a recordable response recorded in a single cell MP:0003466 decreased single cell response threshold reduction in the value at which a stimulus first elicits a recordable response recorded in a single cell MP:0003467 abnormal single cell response intensity any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single cell MP:0003468 increased single cell response intensity increase in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single cell MP:0003469 decreased single cell response intensity reduction in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single cell MP:0003470 abnormal summary potential anomaly in the electrophysiological recording of the activity of several cells MP:0003471 abnormal summary potential threshold any change in the value at which a stimulus first elicits a recordable response recorded in several cells or a tissue slice MP:0003472 increased summary potential threshold increase in the value at which a stimulus first elicits a recordable response recorded in several cells or a tissue slice MP:0003473 decreased summary potential threshold reduction in the value at which a stimulus first elicits a recordable response recorded in several cells or a tissue slice MP:0003474 abnormal summary potential intensity any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in several cells or a tissue slice MP:0003475 increased summary potential intensity increase in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in several cells or a tissue slice MP:0003476 decreased summary potential intensity reduction in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in several cells or a tissue slice MP:0003477 abnormal nerve fiber response anomaly in the electrophysiological recordings from a single or several nerve fiber(s) MP:0003478 abnormal nerve fiber response threshold any change in the value at which a stimulus first elicits a recordable response recorded in a single or several nerve fiber(s) MP:0003479 abnormal nerve fiber response intensity any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single or several nerve fiber(s) MP:0003480 increased nerve fiber response intensity increase in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single or several nerve fiber(s) MP:0003481 decreased nerve fiber response intensity reduction in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single or several nerve fiber(s) MP:0003482 increased nerve fiber response threshold increase in the value at which a stimulus first elicits a recordable response recorded in a single or several nerve fiber(s) MP:0003483 decreased nerve fiber response threshold reduction in the value at which a stimulus first elicits a recordable response recorded in a single or several nerve fiber(s) MP:0003484 abnormal channel response anomalies in the electrophysiological recordings from ion channels MP:0003485 abnormal channel response threshold any change in the value at which a stimulus first elicits a recordable response recorded from ion channels MP:0003486 abnormal channel response intensity any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded from ion channels MP:0003487 increased channel response intensity increase in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded from ion channels MP:0003488 decreased channel response intensity reduction in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded from ion channels MP:0003489 increased channel response threshold increase in the value at which a stimulus first elicits a recordable response recorded from ion channels MP:0003490 decreased channel response threshold reduction in the value at which a stimulus first elicits a recordable response recorded from ion channels MP:0003491 abnormal voluntary movement anomaly in coordinated movements executed with a purpose and can be improved by learning and/or experience MP:0003492 abnormal involuntary movement anomaly in movements that occur independent of planning (e.g. reflexive behavior) MP:0003493 parathyroid gland hyperplasia increase in the number of normal cells in normal arrangement in the parathyroid gland, typically resulting in increased size MP:0003494 parathyroid hypoplasia decrease in the number of normal cells in normal arrangement in the parathyroid gland, typically resulting in decreased size MP:0003495 increased parathyroid adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the parathyroid gland, occurring in a specific population in a given time period MP:0003496 increased thyroid adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the thyroid gland, occurring in a specific population in a given time period MP:0003497 insensitivity to parathyroid hormone no changes in calcium homeostasis in response to endogenous or exogenous hormone MP:0003498 thyroid gland hyperplasia increase in the number of normal cells in normal arrangement in the thyroid gland, typically resulting in increased size MP:0003499 thyroid gland hypoplasia decrease in the number of normal cells in normal arrangement in the thyroid gland, typically resulting in decreased size MP:0003501 iodide oxidation defect thyroid defect in oxidation and organification of iodide MP:0003502 increased activity of thyroid gland increased function of this endocrine gland that normally produces hormones that regulate the metabolic rate of the body MP:0003503 decreased activity of thyroid gland reduced function of this endocrine gland that normally produces hormones that regulate the metabolic rate of the body MP:0003504 thyroid gland inflammation local accumulation of fluid, plasma proteins, and leukocytes in the thyroid gland MP:0003505 increased prolactinoma incidence greater than the expected number of a pituitary adenoma characterized by secretion of prolactin, occurring in a specific population in a given time period MP:0003506 acromegaly excessive secretion of growth hormone resulting in progressive enlargement of the face, hands, feet, head, and thorax; organomegaly and impaired glucose homeostasis may ensue MP:0003507 abnormal ovary physiology any functional anomaly of the ovarian follicle for the production of female germ cells or the endocrine cells for the production of estrogen and progesterone MP:0003508 abnormal circulating dihydrotestosterone level aberration in the blood concentration of a potent androgenic metabolite of testosterone MP:0003509 increased circulating dihydrotestosterone level greater than normal blood concentration of this potent androgenic metabolite of testosterone MP:0003510 decreased circulating dihydrotestosterone level reduction in the blood concentration of a potent androgenic metabolite of testosterone MP:0003511 abnormal labium morphology any structural anomaly of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening MP:0003512 enlarged labia increased size of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening MP:0003513 small labia decreased size of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening MP:0003514 interlabial sulcus the presence of grooves or furrows in the folds of skin which lips on both sides of the vaginal opening MP:0003515 abnormal labia majora morphology any structural anomaly of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening MP:0003516 absent labia majora absence of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening MP:0003517 enlarged labia majora increased size of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening MP:0003518 small labia majora reduced size of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening MP:0003519 splayed labia majora flattened or spread out appearance of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening MP:0003520 abnormal labia minora morphology any structural anomaly of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening MP:0003521 absent labia minora absence of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening MP:0003522 enlarged labia minora increased size of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening MP:0003523 small labia minora reduced size of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening MP:0003524 splayed labia minora flattened or spread out appearance of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening MP:0003525 vulva warts benign epithelial growths of the external genitalia of the female MP:0003526 vulva cyst presence of one or more abnormal membranous sacs in the vulva MP:0003527 small vulva decreased size of the external genitalia of the female MP:0003528 enlarged vulva increased size of the external genitalia of the female MP:0003529 enlarged clitoris increased size of the small, erectile body located at the anterior end of the vulva MP:0003530 small clitoris reduced size of the small, erectile body located at the anterior end of the vulva MP:0003531 abnormal vagina development abnormal morphogenesis of the female reproductive canal located between the uterus and the vulva MP:0003533 bifid vagina cleft of the female reproductive canal located between the uterus and the vulva into two parts or branches MP:0003534 blind vagina presence the female reproductive canal that ends in a sac and does not connect to internal genitalia MP:0003535 absent vagina absence of the female reproductive canal located between the uterus and the vulva MP:0003536 vagina dryness lack of the normal presence or reduced presence of secretions in the vagina MP:0003537 hydrometrocolpos collection of fluid in the vagina; often due to a congenital obstruction MP:0003538 abnormal hymen development anomaly in the morphogenesis of the thin membrane which may partially occlude the opening of the vagina; often absent in normal females MP:0003539 absent hymen absence of the thin membrane which may partially occlude the opening of the vagina MP:0003540 imperforate hymen absence of the normal opening of the thin membrane which may partially occlude the opening of the vagina; here the opening is completely occluded MP:0003541 vaginal inflammation local accumulation of fluid, plasma proteins, and leukocytes in the vagina MP:0003542 abnormal vascular endothelial cell development anomaly in the differentiation of the cells that line the vasculature MP:0003543 abnormal vascular endothelial cell differentiation anomaly in the process whereby a relatively unspecialized cell acquires specialized features of an endothelial cell MP:0003544 abnormal vascular endothelial cell migration anomaly in the movement of endothelial cell or their precursors to the appropriate location in the body MP:0003545 increased alcohol consumption greater than normal consumption of alcohol MP:0003546 decreased alcohol consumption less than normal consumption of alcohol MP:0003547 abnormal pulmonary pressure altered tension of the blood within the pulmonary arteries MP:0003548 pulmonary hypertension sustained high pulmonary pressure at a level that is likely to result in disease and/or other pathological states MP:0003549 pulmonary hypotension sustained low pulmonary pressure at a level that is likely to result in disease and/or other pathological states MP:0003550 short perineum reduced length of the area between the genital organs and the anus that lies beneath the pelvic diaphragm MP:0003551 blind perineal pouch opening in the perineum leading to a blind-ending sac MP:0003552 vagina cyst presence of one or more benign epithelial growths in the vagina MP:0003553 abnormal foreskin morphology any structural anomaly of the loose fold of skin that covers the penis MP:0003554 phimosis inability of the penis to protrude from the prepuce/foreskin; may be due to a narrow opening of the foreskin resulting in the inability to retract the distal foreskin over the glans penis MP:0003555 chordee acute angulation of the penis upon erection; often painful and due to disease or congenital malformation MP:0003557 absent vas deferens absence of the secretory duct of the testicle that carries spermatozoa, running from the epididymis, of which it is the continuation, to the prostatic urethra where it terminates to form ejaculatory duct MP:0003558 absent uterus absence of the female muscular organ of gestation MP:0003559 bifid uterus cleft of the female muscular organ of gestation into two parts or branches, often having the appearance of two lobes MP:0003560 osteoarthritis a type of arthritis that results in the breakdown and eventual loss of the articular cartilage of one or more joints MP:0003561 rheumatoid arthritis an autoimmune response that primarily affects connective tissue; it also results in chronic inflammation of the joints, especially of the hands and feet and may also cause inflammation of the tissue around the joints, as well as other organs in the body MP:0003562 abnormal pancreatic beta cell physiology anomaly in the function of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas MP:0003563 abnormal pancreatic alpha cell physiology anomaly in the function of the glucagon-producing cells of the islets of Langerhans in the pancreas MP:0003564 abnormal insulin secretion anomaly in the production or release of the hormone secreted by beta cells of the pancreas that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids MP:0003565 abnormal glucagon secretion anomaly in the production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes MP:0003566 abnormal cell adhesion altered ability of a cell to adhere to another cell or to a non-cellular component of the environment MP:0003567 abnormal fetal cardiomyocyte proliferation anomaly in the ability of the differentiating cardiac muscle cell population to undergo expansion by cell division MP:0003568 uterus atresia congenital absence of the normal opening or lumen of the uterus MP:0003569 increased leiomyoma incidence greater than the expected number of a benign tumor derived from smooth (nonstriated) muscle, occurring in a specific population in a given time period MP:0003570 increased uterus leiomyoma incidence greater than the expected number of a benign tumor derived from smooth (nonstriated) muscle of the uterus, occurring in a specific population in a given time period MP:0003571 uterus rupture tearing of the uterine tissue; may be due to trauma or pregnancy complications MP:0003572 abnormal uterus development abnormal morphogenesis of the female muscular organ of gestation MP:0003574 abnormal oviduct morphology any structural anomaly of the tube through which the ova pass from the ovary to the uterus MP:0003575 absent oviduct absence of the tube through which the ova pass from the ovary to the uterus MP:0003576 oviduct hypoplasia decrease in the number of normal cells in normal arrangement in the oviduct, typically resulting in decreased size MP:0003578 absent ovary absence of the female reproductive gland containing the germ cells MP:0003579 increased ovarian carcinoma incidence greater than the expected number of a malignant neoplasm arising from ovarian tissue, occurring in a specific population in a given time period MP:0003580 increased fibroma incidence greater than the expected number of a benign tumor of fibrous or fully developed connective tissue, in a specific population in a given time period MP:0003581 increased ovarian fibroma incidence greater than the expected number of a benign tumor of fibrous or fully developed connective tissue in the ovary, in a specific population in a given time period MP:0003582 abnormal ovary development abnormal morphogenesis of the ovarian follicle for the production of female germ cells or the endocrine cells for the production of estrogen and progesterone MP:0003584 bifid ureter two ureters join before draining into the urinary bladder; a duplex kidney with a bifid renal pelvis or bifid ureter ensues when a single ureteral bud bifurcates before the ampulla bifurcates MP:0003585 large ureter increased size or length of the tube that conducts the urine from the renal pelvis to the bladder MP:0003586 dilated ureter abnormal distention of one or both ureters due to accumulation of fluid MP:0003587 ureter obstruction a partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic MP:0003588 ureter stenosis abnormal narrowing or constriction of the ureter MP:0003589 abnormal ureter physiology any functional anomaly of the tube that conducts the urine from the renal pelvis to the bladder MP:0003590 ureteral reflux retrograde movement of urine from the bladder to the kidney MP:0003591 urethra atresia closure, or failure to develop a connection in the canal that leads from the bladder and discharges urine externally MP:0003592 urethra stricture abnormal narrowing or constriction at one or more points in the urethra MP:0003593 urethrovaginal fistula an abnormal anatomical passage connecting the urethra and the vagina MP:0003594 small urethra decreased size or length of the canal that leads from the bladder and discharges urine externally MP:0003595 epididymal cyst presence of one or more benign growths in the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens MP:0003596 epididymis inflammation local accumulation of fluid, plasma proteins, and leukocytes in the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens MP:0003597 increased epididymal cystadenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization and a cyst-like appearance arising from epididymal tissue, occurring in a specific population in a given time period MP:0003598 epispadia congenital absence of the upper wall of the urethra, occurring in both sexes, but more often in the male, with the urethral opening somewhere on the dorsum of the penis at any point below the internal sphincter; in females, the malformed urethral opening is often located aberrantly MP:0003599 large penis enlarged size of the organ of copulation and urination in the male MP:0003600 ectopic kidney a kidney located outside of its normal position usually due to failed migration of the ureteral bud and developing metanephric blastema to the renal fossa; the most common example of renal ectopia is a pelvic kidney; other sites of ectopic kidneys include the iliac region, the abdomen, the chest, and, in some cases, the contralateral side, referred to as crossed MP:0003601 bifid kidney cleft of the kidney into two parts or branches, often having the appearance of two lobes MP:0003602 increased renal hamartoma incidence greater than the expected number of a benign formation of a mass of tissue of disproportionate size and distribution in the kidney, occurring in a specific population in a given time period; hamartomas are typically composed of an overgrowth of mature cells and tissues that normally occur in this tissue MP:0003603 increased renal hemangioblastoma incidence greater than the expected number of a benign cyst-like tumor of the kidney that is composed of multiple capillary and sinusoidal channels lined with endothelial cells, occurring in a specific population in a given time period MP:0003604 single kidney presence of only one of the paired organs responsible for urine secretion MP:0003605 fused kidneys a defect in which there is a single malformed organ resulting from partial or complete fusion of the two renal anlage MP:0003606 kidney failure failure of the kidneys to adequately filter toxins and waste products from the blood; classified as acute (as in acute kidney injury) or chronic (as in chronic kidney disease); a number of other diseases or health problems may cause either form of renal failure to occur MP:0003607 abnormal prostate gland physiology any functional anomaly of the gland in males that secretes part of the seminiferous fluid MP:0003608 prostate gland inflammation local accumulation of fluid, plasma proteins, and leukocytes in the prostate MP:0003609 small scrotum reduced size of the external sac of skin that encloses the testes MP:0003610 scrotum hyperplasia increase in the number of normal cells in normal arrangement in the external sac of skin that encloses the testes, typically resulting in increased size MP:0003611 scrotum hypoplasia decrease in the number of normal cells in normal arrangement in the scrotum, typically resulting in decreased size MP:0003612 bifid scrotum cleft of the scrotum into two parts or branches, often having the appearance of two lobes MP:0003613 abnormal kidney medulla development anomaly in the differentiation of the inner portion of the kidney consisting of the renal pyramids MP:0003614 urinary bladder prolapse hernial protrusion of the urinary bladder, usually through the vaginal wall MP:0003615 urinary bladder diverticulum a pouch or sac protruding from the urinary bladder wall MP:0003616 abnormal urachus morphology any structural anomaly of the fibrous remnant of the allantoic stalk, a narrow fetal canal connecting the apex of the urinary bladder with the umbilicus located in the space of Retzius, between the transversalis fascia anteriorly and the peritoneum posteriorly. its lumen is normally obliterated during development, transforming the urachus into a solid cord, a functionless remnant that persists throughout life as the median umbilical ligament; failure of complete lumen obliteration may result in distinct congenital urachal remnant anomalies MP:0003617 urinary bladder hypoplasia decrease in the number of normal cells in normal arrangement in the urinary bladder, typically resulting in decreased size MP:0003618 uterine cervical atresia narrowing of the cervical opening MP:0003619 abnormal urine color any alteration from the usual straw-coloration of the urine MP:0003620 oliguria a reduction in the volume of urine produced and excreted; however, some urine is still produced MP:0003621 dysuria difficult or painful urination MP:0003622 ischuria upon urination, some urine is retained in the bladder instead of being excreted MP:0003623 hydrocele accumulation of fluid around testes MP:0003624 anuria inability to form or excrete urine MP:0003625 kidney medulla hyperplasia increase in the number of normal cells in normal arrangement in the kidney medulla, typically resulting in increased size MP:0003626 kidney medulla hypoplasia decrease in the number of normal cells in normal arrangement in the kidney medulla, typically resulting in decreased size MP:0003627 abnormal leukocyte tethering or rolling anomaly in the transient adhesive interactions between leukocytes and endothelial cells lining blood vessels mediated primarily by selectins and which are typically the first step in cellular extravasation MP:0003628 abnormal leukocyte adhesion anomaly in the number of or process by which leukocytes adhere to the luminal aspects of high endothelial venules prior to transmigration out of the vessel MP:0003630 abnormal urothelium morphology any structural anomaly of the epithelial lining of the lumen of the organs of the urinary tract MP:0003631 nervous system phenotype the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan MP:0003632 abnormal nervous system morphology any structural anomaly of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that receive and interpret stimuli and transmit impulses to effector organs to control body functions MP:0003633 abnormal nervous system physiology any functional anomaly of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that receive and interpret stimuli and transmit impulses to effector organs to control body functions MP:0003634 abnormal glial cell morphology any structural anomaly of non-neuronal cells of the nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons MP:0003635 abnormal synaptic transmission defect in the communication from a neuron to a target across a synapse MP:0003636 obsolete absence of hair cells OBSOLETE. absence of the sensory epithelial cells of the inner ear MP:0003637 cochlear ganglion hypoplasia decrease in the number of normal cells in normal arrangement in the cochlear ganglion, typically resulting in decreased size MP:0003638 abnormal response/metabolism to endogenous compounds altered ability or inability to metabolize or respond to substances normally present in the body MP:0003639 abnormal response to vitamins altered ability or inability to respond to or metabolize a group of organic substances that are required in trace amounts for the normal metabolic homeostasis of the body MP:0003641 small lung reduced size of the lung compared to controls MP:0003642 absent seminal vesicle absence of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens MP:0003643 spleen atrophy acquired diminution of the size of the spleen associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0003644 thymus atrophy acquired diminution of the size of the thymus associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0003645 increased pancreatic beta cell number greater than normal number of the cells of the pancreas that secrete insulin MP:0003646 increased muscle fatigability increased muscle exhaustion or increased susceptibility to muscle exhaustion MP:0003647 absent oligodendrocytes absence of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS MP:0003648 abnormal radial glial cell morphology any structural anomaly of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult MP:0003649 decreased heart right ventricle size less than average size of the right ventricle compared to the average for a particular population MP:0003651 abnormal axon extension abnormality in the ability of an axon to exhibit long distance growth of a single axon process from a neuron cell body involved in cellular development MP:0003652 abnormal skin turgor anomaly in the ability of the skin to resist deformation; influential factors include dehydration and age MP:0003653 decreased skin turgor reduced ability of the skin to resist deformation; influential factors include dehydration and age MP:0003654 nasal bone hyperplasia increase in the number of normal cells in normal arrangement in the bone that forms the nasal bridge, typically resulting in increased size MP:0003655 absent pancreas absence of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MP:0003656 abnormal erythrocyte physiology aberrant measurable or observable characteristic related to the function of or processes in the cells in the blood that carry oxygen, red blood cells MP:0003657 abnormal erythrocyte osmotic lysis increase or decrease in the ability of RBCs to withstand changes in osmolarity MP:0003658 abnormal capillary morphology any structural anomaly of the small branching blood vessels that form a network between the arterioles and venules, where the exchange of water, oxygen, carbon dioxide, and other nutrient and waste chemical substances occurs between the blood and the surrounding tissues MP:0003659 abnormal lymph circulation abnormalities in the flow of the lymph from the tissues into the veins of the circulatory system MP:0003660 chylothorax an accumulation of chyle in the pleural space; chyle is fluid consisting of lymph and emulsified fats that is formed in the small intestine during digestion of fatty foods and taken up by the lymph vessels MP:0003661 abnormal locus ceruleus morphology any structural anomaly of a dense cluster of neurons within the dorsorostral pons; it is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic MP:0003662 abnormal long bone epiphyseal plate proliferative zone any anomaly of the germinal layer of the epiphyseal plate where cells are actively dividing as well as producing extracellular matrix MP:0003663 abnormal thermosensation defect in the ability to sense or display a preference for a given temperature MP:0003664 ocular pterygium abnormal mass of hypertrophied bulbar subconjunctival tissue arising from the conjunctiva of the inner corner of the eye that obstructs vision by growing over the cornea towards the pupil MP:0003665 endophthalmitis inflammation of the internal structures of the tissues in the eyeball MP:0003666 impaired sperm capacitation reduced ability or inability of spermatozoa to undergo the series of morphological and molecular maturational processes in the female genital tract that enable them to penetrate and fertilize an egg MP:0003667 increased hemangiosarcoma incidence higher than normal incidence of a malignant tumor characterized by rapidly proliferating, extensively infiltrating, anaplastic cells derived from blood vessels and appear as irregular blood-filled or lumpy sacs that are typically filled with blood; rupture of the tumor can cause rapid death from bleeding MP:0003668 abnormal periodontal ligament morphology any structural anomaly of the fibrous connective tissue that surrounds the root of a tooth, separating it from and attaching it to the alveolar bone; normally extends from the base of the gingival mucosa to the fundus of the bony socket, and its main function is to hold the tooth in its socket MP:0003669 periodontal ligament hypercellularity increased cell density of the periodontal ligament MP:0003670 dilated renal glomerular capsule stretched or widened aperture of the expanded beginning of a nephron that contains the glomerulus MP:0003671 abnormal eyelid aperture any anomaly in the normal distance from one eyelid to the other, or closure of the eyes MP:0003672 abnormal ureter development any anomaly in the differentiation of the tube that conducts the urine from the renal pelvis to the bladder MP:0003673 abnormal inguinal canal morphology any structural anomaly of the passage in the lower abdominal wall through which the spermatic cord in the male or the round ligament in the female, nerves and vessels pass from the pelvic cavity to the scrotum or labia majora, respectively MP:0003674 oxidative stress condition characterized by an accumulation of free radical groups in the body, which creates a potentially unstable and damaging cellular environment linked to tissue damage, accelerated aging, and degenerative disease; can result from many factors, including exposure to alcohol, medications, poor nutrition, trauma, cold or toxins; may be indicated by low antioxidant levels measured in blood plasma MP:0003675 kidney cyst presence of one or more abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion MP:0003677 abnormal ear lobe morphology any structural anomaly in the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage MP:0003678 absent ear lobes missing the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage MP:0003679 ear lobe hypoplasia decrease in the number of normal cells in normal arrangement in the ear lobe, typically resulting in decreased size MP:0003680 thick ear lobes an increase in the fleshiness of the ear lobes MP:0003681 protruding ear lobes ear lobes that project outward MP:0003682 linear crease in ear lobe appearance of fold-like marks in the ear lobe MP:0003683 prominent ear lobes conspicuous appearance of the ear lobes MP:0003684 abnormal inferior olivary complex morphology any structural anomaly in the capsule-shaped structure in the ventral medulla located just lateral and dorsal to the medullary pyramids; neurons in the inferior olivary nucleus are the source of climbing fiber input to the cerebellar cortex and have been implicated in various functions, such as learning and timing of movements MP:0003685 abnormal cardiac ganglion morphology any structural anomaly of the parasympathetic ganglia of the cardiac plexus between the arch of the aorta and the bifurcation of the pulmonary artery MP:0003686 abnormal eye muscle morphology any structural anomaly of the muscles of the eye MP:0003687 abnormal intraocular muscle morphology any structural anomaly of the smooth muscles within the eye MP:0003688 ophthalmoparesis loss of strength in the muscles that control eye movement MP:0003689 ophthalmoplegia paralysis of the ocular muscles MP:0003690 abnormal glial cell physiology any functional anomaly of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons MP:0003691 abnormal microglial cell physiology any functional anomaly of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system; microglia are scavengers, engulfing dead cells and other debris, and in Alzheimer's disease, microglia are found associated with dying nerve cells and amyloid plaques MP:0003692 xanthoma a deposit of cholesterol rich material in a tissue, most often in the skin but also seen in tendons and in the brain MP:0003693 abnormal blastocyst hatching any anomaly of the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation MP:0003694 failure of blastocyst to hatch from the zona pellucida the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation, fails to occur MP:0003695 delayed blastocyst hatching from the zona pellucida the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation, occurs later in development than expected MP:0003696 abnormal zona pellucida morphology any structural anomaly of the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation MP:0003697 absent zona pellucida missing the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation MP:0003698 abnormal male reproductive system physiology any functional anomaly of the male organs associated with producing offspring MP:0003699 abnormal female reproductive system physiology any functional anomaly of the female organs associated with producing offspring MP:0003700 abnormal oviduct transport increased or decreased rate of passage of embryos or oocytes from the ovary to the uterus MP:0003701 elevated level of mitotic sister chromatid exchange increased number of crossovers between sister chromatids during mitosis resulting in increased numbers of reciprocal exchanges of DNA between the two chromosomes; normally crossover exchanges are supressed during mitosis and only occur in meiosis MP:0003702 abnormal chromosome morphology any structural anomaly of the compact, intertwined molecules of DNA found in the nucleus which carry genetic information MP:0003703 abnormal vestibulocochlear ganglion morphology any structural anomaly of the group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia MP:0003704 abnormal hair follicle development any anomaly in the development of the tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open MP:0003705 abnormal hypodermis morphology any structural anomaly of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia; usually consisting primarily of a fatty layer and may also include a muscle layer and/or a fibrous layer, or it may occur as a membranous layer only, being nearly devoid of fat; it contains skin ligaments extending between the dermis and deep fascia, cutaneous nerves, and superficial vessels, with terminal branches passing into the skin layers MP:0003706 abnormal cell nucleus count absent or greater than one nuclei present per cell body when one is expected; often due to failed cytokinesis or events leading to apoptosis MP:0003707 increased cell nucleus count greater than one nuclei present per cell body when one is expected; often due to failed cytokinesis MP:0003708 binucleate two nuclei present per cell body when one is expected; often due to failed cytokinesis MP:0003709 anucleate absent nucleus of a cell body when one is expected; often due to events leading to apoptosis MP:0003710 abnormal physiological neovascularization anomalies in the development of new blood vessels in restoration of blood circulation during the healing process MP:0003711 pathological neovascularization the proliferation of blood vessels in abnormal tissues or in abnormal positions MP:0003712 raised ear position outer ears which are situated above the normal location MP:0003713 abnormal ear rotation outer ears that are positioned such that the ears are turned relative to the anterior-posterior body axis, but the ears emerge from the head at the usual position MP:0003714 absent platelets lack of non-nucleated cells found in the blood and involved in blood coagulation MP:0003715 posteriorly rotated ears outer ears that are positioned such that the ears are turned backwards relative to the anterior-posterior body axis, but the ears emerge from the head at the usual position MP:0003716 anteriorly rotated ears outer ears that are positioned such that the ears are turned forward relative to the anterior-posterior body axis, but the ears emerge from the head at the usual position MP:0003717 pallor an unnatural paleness to the skin, generally attributable to anemia MP:0003718 maternal effect expression of a phenotypic trait in a female animal's offspring that is dependent on the maternal genotype MP:0003719 abnormal pericyte morphology any structural anomaly of the connective tissue cells that occurs around capillaries or other small blood vessels MP:0003720 abnormal neural tube closure any anomaly in the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline MP:0003721 increased tumor growth/size greater than expected development of tumorous growth when compared to controls MP:0003722 absent ureter missing the tube that conducts the urine from the renal pelvis to the bladder MP:0003723 abnormal long bone morphology any structural anomaly of the bones that consist of a tubular shaft (diaphysis) and two ends that are wider than the shaft (epiphysis); long bones include the femora, tibiae, and fibulae, and the humeri, radii, and ulnae of the limbs; metacarpals and metatarsals of the autopods, the phalanges of the digits, and the clavicles MP:0003724 increased susceptibility to induced arthritis more likely to be stricken with changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures that are induced by inflammatory responses caused by chemical or mechanical agents MP:0003725 increased autoantibody level elevated level of antibodies to self-antigens present in the sera; often indicative of autoimmune disease MP:0003726 decreased autoantibody level reduced level of antibodies to self-antigens present in the sera MP:0003727 abnormal retina layer morphology any structural anomaly of any of the layers that make up the retina MP:0003728 abnormal retina photoreceptor layer morphology any structural anomaly of the photoreceptor layer MP:0003729 abnormal photoreceptor outer segment morphology any structural anomaly of the photoreceptor region that is rich in the visual pigment rhodopsin MP:0003730 abnormal photoreceptor inner segment morphology any structural anomaly of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region MP:0003731 abnormal retina outer nuclear layer morphology any structural anomaly of the retinal layer that contains the nuclei and cell bodies of rods and cones MP:0003732 abnormal retina outer plexiform layer morphology any structural anomaly of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites) MP:0003733 abnormal retina inner nuclear layer morphology any structural anomaly of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells MP:0003734 abnormal retina inner plexiform layer morphology any structural anomaly of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites MP:0003735 cup-shaped ears deeply concave appearance to the outer ear MP:0003736 folded helix the bending over of the upper cartilaginous rim of the outer ear MP:0003737 ossification of pinnae formation of bone in the outer ear, which is normally cartilaginous MP:0003739 dense middle ear ossicles thickening of the three small bones of the middle ear MP:0003740 fusion of middle ear ossicles union of the three small bones of the middle ear into a single structure MP:0003741 tinnitus persistent sensation of buzzing, ringing, clicking, or other noises in the ear MP:0003742 narrow head a shorter ear- to -ear distance resulting in the appearance of a thin face and a protruding nasal region MP:0003743 abnormal facial morphology any structural anomaly of the face MP:0003744 obsolete abnormal orofacial morphology any structural anomaly of the the mouth and the face MP:0003745 abnormal oral mucosa morphology any structural anomaly of the mucous membrane that lines the inside of the mouth and consists of stratified squamous epithelium termed oral epithelium and an underlying connective tissue termed lamina propria MP:0003746 stomatitis inflammation of the mucous lining of the mouth MP:0003747 mouth mucosal ulcer lesions through the mucous membrane of the mouth, usually associated with loss of tissue MP:0003748 increased oral mucosa hemangioma incidence greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells in the oral mucosa, occurring in a specific population in a given time period MP:0003749 down-turned corners of mouth the lateral points of the oral cavity opening appear in a lower position that the rest of the lips MP:0003750 increased mouth tumor incidence greater than the expected number of neoplasms in the mouth tissues, usually in the form of a distinct mass, in a specific population in a given time period MP:0003751 oral leukoplakia white patchy lesions of the mucous membranes of the oral cavity; often considered a precancerous condition MP:0003752 increased oral papilloma incidence greater than the expected number of benign tumors consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic epithelial cells in the oral cavity MP:0003753 increased lip papilloma incidence greater than the expected number of a benign epithelial tumor of the lip of the oral cavity, occurring in a specific population in a given time period MP:0003754 increased gingival papilloma incidence greater than the expected number of a benign epithelial tumor of the oral gum tissue MP:0003755 abnormal palate morphology any structural anomaly of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) MP:0003756 abnormal hard palate morphology any structural anomaly of the anterior part of the palate that is supported by and includes the palatal extensions of the maxillary and palatine bones in the adult MP:0003757 high palate greater distance upward to the roof of the oral cavity than usual MP:0003758 narrow palate abnormally slim shape to the roof of the oral cavity MP:0003759 broad palate abnormally wide shape to the roof of the oral cavity MP:0003760 decreased palatal length reduction in the average distance of the deepest point in the midline of the palate relative to the midline point on the anterior crest of the alveolar gum pad ridge MP:0003761 arched palate abnormally concaved shape to the roof of the oral cavity MP:0003762 abnormal immune organ physiology any functional anomaly of the organs of the immune system MP:0003763 abnormal thymus physiology any functional anomaly of the primary lymphoid organ that is required for immune system development MP:0003764 abnormal palatal length any change in the average distance of the deepest point in the midline of the palate relative to the midline point on the anterior crest of the alveolar gum pad ridge MP:0003765 increased palatal length greater than average distance of the deepest point in the midline of the palate relative to the midline point on the anterior crest of the alveolar gum pad ridge MP:0003766 obsolete decreased palatal length MP:0003767 palate inflammation local accumulation of fluid, plasma proteins and leukocytes in the palate MP:0003768 palatal telangiectasia vascular lesion formed by dilation of a group of small blood vessels in the palate MP:0003769 abnormal lip morphology any structural anomaly of the fleshy margins of the mouth MP:0003770 lip ulcer lesions through the mucous membrane of the inner surface of the lip MP:0003771 abnormal lip shape changes in the characteristic contours of the fleshy margins of the mouth MP:0003772 lip pit an abnormal hollow or depression in the fleshy margins of the mouth MP:0003773 eclabion an outward turning of the inner surface of the lip MP:0003774 thick lip lips having an abundance and often an excess of soft tissue MP:0003775 thin lip lips having a reduced amount of soft tissue MP:0003776 lip atrophy acquired diminution of the size of the lip tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0003777 lip inflammation local accumulation of fluid, plasma proteins and leukocytes in the lips MP:0003778 lip telangiectasia vascular lesion formed by dilation of a group of small blood vessels in the lip MP:0003779 lip cyst presence of one or more fluid-filled membranous sacs in one or both lips MP:0003780 increased lip tumor incidence greater than the expected number of abnormal rapidly proliferating cells in the lip, usually in the form of a distinct mass, occurring in a specific population in a given time period MP:0003781 increased lip neuroma incidence greater than the expected number of a tumor derived from nerve cells or fibers residing in the lip, occurring in a specific population in a given time period MP:0003782 short lip lip that does not extend fully to the normal placement and meet the opposite lip MP:0003783 tented upper lip an upper lip having an inverted V- shape MP:0003784 thin lip vermilion border reduced thickness of the line between the lip and the facial skin around the mouth MP:0003785 lip mucosal nodules small mass of tissue or aggregation of cells in the mucosal tissue of the inner lip MP:0003786 premature aging earlier than normal occurrence of the normal signs of aging MP:0003787 abnormal imprinting defects in the establishment of heritable alterations in the activity of a gene that depend on whether it passed through the paternal or the maternal germline, but that are not encoded by DNA itself MP:0003788 obsolete abnormal interferon physiology OBSOLETE. impairment or increase of the cellular release of any of the cytokines produced by T cells, fibroblasts and other cells in response to a challenge by a foreign agents such as viruses, bacteria, parasites and tumor cells MP:0003789 increased osteosarcoma incidence greater than the expected number of a malignant neoplasm derived form mesenchymal stem cells, osteoblasts or osteocytes, occurring in a specific population in a given time period; osteosarcoma is a highly invasive and destructive tumor rising in the skeleton with osteoid and immature woven bone MP:0003790 absent CD4-positive, alpha-beta T cells lack of the set of single-positive T cells that express CD4 on their surface MP:0003791 abnormal minor salivary gland morphology any structural anomaly of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands MP:0003792 abnormal major salivary gland morphology any structural anomaly of the three largest glands of the oral cavity that secrete most of the saliva, including the parotid, submandibular, and sublingual glands MP:0003793 abnormal submandibular gland morphology any structural anomaly of either of the large major salivary glands situated beneath the mandible MP:0003794 delayed somite formation late onset of the induction and/or differentiation of the somites MP:0003795 abnormal bone structure anomaly in the composite material or the layered arrangement of the bony endoskeleton of the body MP:0003797 abnormal compact bone morphology any structural anomaly of the outer layers of solid, hard bone that covers spongy bone; consists of parallel osteons containing mineral deposits and interstitial lamellae MP:0003798 abnormal Harderian gland pigmentation any anomaly in the coloring of the sebaceous gland located behind the eyeball in the orbit that excretes fluid that facilitates movement of the third eyelid, due to changes in the amount, shape, or distribution of cells producing pigment MP:0003799 impaired macrophage chemotaxis reduced diffusion or accumulation of macrophages in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions MP:0003800 monodactyly having only one toe or digit on each extremity MP:0003801 obsolete deviant histocompatibility locus OBSOLETE. deviation from the parental type of histocompatibility MP:0003802 obsolete deviant class I histocompatibility locus OBSOLETE. deviation from the parental type of class I histocompatibility MP:0003803 obsolete deviant class II histocompatibility locus OBSOLETE. deviation from the parental type of class II histocompatibility MP:0003804 obsolete deviant minor histocompatibility locus OBSOLETE. deviation from the parental type of minor histocompatibility MP:0003805 obsolete deviant histocompatibility-related locus OBSOLETE. deviation from the parental type of a histocompatibility-related locus MP:0003806 abnormal nucleotide metabolism any anomaly in the chemical reactions and pathways involving a nucleotide, including metabolic, catabolic and biosynthetic processes MP:0003807 camptodactyly permanent flexion of one or more digits; contractures may also be seen in the wrists and at the elbows MP:0003808 increased atrioventricular cushion size larger than normal mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal MP:0003809 abnormal hair shaft morphology any structural anomaly of the cuticle, cortex and/or medulla of a hair MP:0003810 abnormal hair cuticle anomalies in the thin, smooth and glossy outer protective cell layer of hair shaft MP:0003811 abnormal hair cortex morphology any structural anomaly in the spindle shaped cells of the hair shaft that contains keratin fibrils and matrix MP:0003812 abnormal hair medulla anomalies of hair medullary cell formation and arrangement of the innermost core of the hair shaft MP:0003813 abnormal hair follicle dermal papilla morphology any structural anomaly of the mesodermal signaling center of the hair follicle consisting of closely packed specialized mesenchymal fibroblasts MP:0003814 vascular smooth muscle hypoplasia decrease in the number of normal cells in normal arrangement in the vascular smooth muscle, typically resulting in decreased size MP:0003815 hairless having no hair at any time throughout lifespan, generally referring to primary genetic hairlessness MP:0003816 abnormal pituitary gland development malformation or incomplete differentiation of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin MP:0003817 abnormal pituitary diverticulum morphology any structural anomaly of a tubular outgrowth of ectoderm from the stomodeum of the embryo; the outgrowth grows toward the infundibular process of the diencephalon, around which it forms a cup-like mass, giving rise to the pars distalis and pars juxtaneuralis of the hypophysis MP:0003818 abnormal eye muscle development malformation or arrest of differentiation of the muscles of the eye MP:0003819 increased left ventricle diastolic pressure increase in the pressure in the left ventricle between heart beats when the heart is relaxed MP:0003820 increased left ventricle systolic pressure increase in the pressure in the left ventricle as the heart contracts and pumps blood into the arteries MP:0003821 decreased left ventricle diastolic pressure decrease in the pressure in the left ventricle between heart beats when the heart is relaxed MP:0003822 decreased left ventricle systolic pressure decrease in the pressure in the left ventricle as the heart contracts and pumps blood into the arteries MP:0003823 increased left ventricle developed pressure increase in the difference between left ventricular systolic and diastolic pressures MP:0003824 decreased left ventricle developed pressure decrease in the difference between left ventricular systolic and diastolic pressures MP:0003825 abnormal pillar cell morphology any structural anomaly of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti MP:0003826 abnormal Mullerian duct morphology any structural anomaly of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina MP:0003827 abnormal Wolffian duct morphology any structural anomaly of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male MP:0003828 pulmonary edema an accumulation of an excessive amount of serous fluid in the parenchyma and the alveoli via effusion of intravascular fluid from the pulmonary vascular bed MP:0003829 impaired febrile response reduced or absent febrile response to exogenous or endogenous pyrogens MP:0003830 abnormal testis development abnormal morphogenesis of the male reproductive gland containing the germ cells MP:0003833 decreased satellite cell number less than the normal number of unfused cells in muscle that play a role in muscle regeneration MP:0003834 abnormal adrenergic chromaffin cell morphology any structural anomaly of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion MP:0003838 abnormal milk ejection anomaly of the milk ejection reflex in response to suckling during lactation MP:0003839 abnormal insulin clearance increase or decrease in the rate at which insulin is removed from the blood stream MP:0003840 abnormal coronal suture morphology any structural anomaly of the dense, fibrous connective tissue joint between the parietal bones and the frontal bone MP:0003841 abnormal lambdoid suture morphology any structural anomaly of the dense, fibrous connective tissue joint between the superior border of the occipital bone and the posterior borders of the right and left parietal bones MP:0003842 abnormal metopic suture morphology any structural anomaly of the dense, fibrous connective tissue joint between the frontal bones from the sagittal suture to the root of the nose; it is visible in neonates and juveniles, but it is frequently obliterated in some adult organisms; in mice and rats, the posterior frontal (PF) suture, situated between the frontal bones, is analogous to the human metopic suture; the anterior landmark for the PF suture is the jugum limitans; the posterior landmark for the PF suture is the bregma MP:0003843 abnormal sagittal suture morphology any structural anomaly of the dense, fibrous connective tissue joint between the parietal bones MP:0003844 abnormal squamoparietal suture morphology any structural anomaly of the dense, fibrous connective tissue joint between the squamous part of the temporal bone and the inferior aspect of the parietal bone; posteriorly, the squamous suture becomes the parietomastoid suture where the mastoid process articulates with the parietal bone; anteriorly, the squamous suture extends towards the pterion MP:0003845 abnormal decidualization atypical cellular and vascular changes occurring in the endometrium of the pregnant uterus just after the onset of blastocyst implantation; this process involves the proliferation and differentiation of the fibroblast-like endometrial stromal cells into large, polyploid decidual cells that eventually form the maternal component of the placenta; expected changes include the eosinophilic proliferation around arterioles after ovulation or progesterone action on endometrium which increases glandular epithelial secretion, stimulates glycogen accumulation in stromal cell cytoplasm, and promotes stromal vascularity (spiral arterioles) and edema MP:0003846 matted coat coat hairs sticks together to form clumps and does not lie flat MP:0003847 disorganized lens bow derangement of the area where the lens epithelium pushes into the lens proper and forms new lens fibers MP:0003848 brittle hair hair is susceptible to breakage MP:0003849 greasy coat fur is oily in appearance or texture MP:0003850 abnormal thymocyte activation anomaly in the process of producing activated thymocytes from naive thymocytes MP:0003851 skeletal muscle interstitial fibrosis formation of fibrous tissue within the interstices of skeletal muscle as a result of repair or a reactive process MP:0003852 skeletal muscle necrosis morphological changes resulting from pathological death of skeletal muscle tissue; usually due to irreversible damage MP:0003853 dry skin skin characterized by the lack of natural or normal moisture MP:0003854 abnormal forelimb stylopod morphology any structural anomaly of the proximal element of the forelimb including the humerus MP:0003855 abnormal forelimb zeugopod morphology any structural anomaly of the distal elements of the forelimb including the radius and ulna MP:0003856 abnormal hindlimb stylopod morphology any structural anomaly of the proximal element of the hindlimb including the femur MP:0003857 abnormal hindlimb zeugopod morphology any structural anomaly of the distal elements of the hindlimb including the tibia and fibula MP:0003858 enhanced coordination improved ability to execute integrated movements of muscle MP:0003859 abnormal Harderian gland physiology any functional anomaly of the retroocular sebaceous gland found within the orbit of mammals that possess a nictitating membrane (third eyelid); the chief products of the gland vary between different groups of vertebrates, and epithelial cells possess granules or vacuoles whose contents may be mucous, serous or lipid; in rodents, the Harderian gland is especially large and secretes lipids (by a merocrine mechanism), melatonin and porphyrins; ascribed functions include a role in lubrication and protection for the eyeball and nictitating membrane (by lipids), photoprotection (by porphyrin), photoreception (by regulation of the incidence of light on the retina), and thermoregulation (in some rodents) MP:0003860 abnormal carbon dioxide level anomalous concentration of CO2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases MP:0003861 abnormal nervous system development impaired or altered growth of the components of the nervous system MP:0003862 decreased aggression towards male mice when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards male mice MP:0003863 decreased aggression towards mice when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards other mice MP:0003864 abnormal midbrain development anomaly in the formation of or the patterning of the part of the brainstem developing from the middle of the three primary cerebral vesicles of the embryo MP:0003865 lymph node inflammation local accumulation of fluid, plasma proteins, and leukocytes in the lymph nodes MP:0003866 abnormal defecation anomaly in the discharge of feces from the body MP:0003867 increased defecation amount increase in the amount of discharge of feces from the body MP:0003868 abnormal feces composition increase or decrease in the amount of compounds normally found in the feces (fat, protein etc) or presence of material not normally seen in the feces MP:0003869 ectopic cartilage positional abnormality of cartilage MP:0003870 decreased urine glucose level a reduced amount of glucose in the urine compared to the normal state MP:0003871 abnormal myelin sheath morphology any structural anomaly of the insulating envelope that surrounds nerve fibers or axons MP:0003872 absent heart right ventricle missing the lower right chamber of the heart MP:0003873 pharyngeal arch hypoplasia decrease in the number of normal cells in normal arrangement in the pharyngeal arches, typically resulting in decreased size MP:0003874 absent pharyngeal arches missing the transient structures of the embryo that develop into regions of the head, neck and ears MP:0003875 abnormal hair follicle regression abnormal length of time for the onset of catagen phase of the cyclic transformation of the hair follicle MP:0003876 obsolete abnormal cerebral function OBSOLETE. anomalous activity of the thin layer of grey matter on the surface of the cerebral hemisphere that develops from the telencephalon and folds into gyri that is responsible for higher mental functions MP:0003877 abnormal serotonergic neuron morphology any structural anomaly of the neurons that secrete serotonin MP:0003878 abnormal ear physiology any functional anomaly of the ear, not due to an anatomical defect MP:0003879 abnormal hair cell physiology any functional anomaly of the sensory epithelial cells of the inner ear MP:0003880 abnormal central pattern generator function any functional anomaly of the neural networks that produce rhythmic patterned output without sensory input and underlie rhythmic motor patterns MP:0003881 abnormal nephron morphology any structural anomaly of the filtering unit of the kidney that includes the renal corpuscle, proximal and distal convoluted tubules, and loop of Henle MP:0003882 abnormal pulse pressure anomaly in the difference between systolic and diastolic blood pressure MP:0003883 enlarged stomach increased size of the stomach MP:0003884 decreased macrophage cell number fewer than the normal numbers of macrophages MP:0003885 abnormal rostral-caudal body axis extension anomaly in or failure of the long (rostral-caudal) axis of the body to elongate normally once patterning has been established MP:0003886 abnormal embryonic epiblast morphology any structural anomaly of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion MP:0003887 increased hepatocyte apoptosis increase in the number of hepatocytes undergoing programmed cell death MP:0003888 liver hemorrhage bleeding within the liver MP:0003889 enhanced sensorimotor gating amplification of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI) MP:0003890 abnormal embryonic-extraembryonic boundary morphology any structural anomaly in the delineating tissue and the segregation between the embryo proper and extraembryonic tissues MP:0003891 increased allantois apoptosis increase in the number of cells of the allantois undergoing programmed cell death MP:0003892 abnormal gastric gland morphology any structural anomaly of any of the branched tubular glands in the mucosa of the fundus and body of the stomach that contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin MP:0003893 increased hepatocyte proliferation increase in the expansion rate of the hepatocyte cell population by cell division MP:0003894 abnormal Purkinje cell innervation any structural anomaly of the supply of nerve fibers that connect to the Purkinje cells MP:0003895 increased ectoderm apoptosis increase in the number of ectoderm cells undergoing programmed cell death during development MP:0003896 prolonged PR interval increase in the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex MP:0003897 abnormal ST segment anomaly in the length of time between the end of S-wave and the beginning of T-wave; reflects the amount of time the ventricles remain electrically depolarized MP:0003898 abnormal QRS complex anomaly in the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction MP:0003899 abnormal QT interval anomaly in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave MP:0003900 shortened QT interval decrease in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave MP:0003901 abnormal PR interval anomaly in the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex MP:0003902 abnormal cell mass anomaly in the total physical bulk or volume of a cell compared to the normal state MP:0003903 increased cell mass greater total physical bulk or volume of a cell compared to the normal state MP:0003904 decreased cell mass reduction in the total physical bulk or volume of a cell compared to the normal state MP:0003905 abnormal aorta elastin content anomaly in the physical amount of elastin in the aorta compared to the normal state MP:0003906 increased aorta elastin content greater physical amount of elastin in the aorta compared to the normal state MP:0003907 decreased aorta elastin content reduction in the physical amount of elastin in the aorta compared to the normal state MP:0003908 decreased stereotypic behavior less frequent incidence of repetitive, invariant, persistent motor patterns that do not appear to be purposeful MP:0003913 increased heart right ventricle weight greater than average weight of the right ventricle compared to the average MP:0003914 decreased heart right ventricle weight less than average weight of the right ventricle compared to the average MP:0003915 increased heart left ventricle weight greater than average weight of the heart left ventricle compared to the average for a particular population MP:0003916 decreased heart left ventricle weight less than average weight of the heart left ventricle compared to the average for a particular population MP:0003917 increased kidney weight greater weight of the organs responsible for urine secretion MP:0003918 decreased kidney weight reduced weight of the organs responsible for urine secretion MP:0003919 obsolete abnormal lymph node cellularity OBSOLETE. anomaly in the cellular make up of the lymph nodes MP:0003920 abnormal heart right ventricle morphology any structural anomaly of the right lower chamber of the heart MP:0003921 abnormal heart left ventricle morphology any structural anomaly of the left lower chamber of the heart MP:0003922 abnormal heart right atrium morphology any structural anomaly of the right upper chamber of the heart MP:0003923 abnormal heart left atrium morphology any structural anomaly of the left upper chamber of the heart MP:0003924 diaphragmatic hernia protrusion of abdominal contents into the thoracic cavity through a hole in the diaphragm MP:0003925 abnormal cellular glucose uptake anomaly in the ability of a cell to take in glucose from the environment MP:0003926 decreased cellular glucose uptake reduced ability of a cell to take in glucose from the environment MP:0003927 increased cellular glucose import increased ability of a cell to take in glucose from the environment MP:0003928 increased heart rate variability increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle MP:0003929 decreased heart rate variability reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle MP:0003930 abnormal tooth hard tissue morphology any structural anomaly of the hard portion of the tooth surrounding the pulp, including the dentin, enamel and the cementum on the root MP:0003931 absent molars absence of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface MP:0003932 abnormal molar crown morphology any structural anomaly of the part of a molar that is covered by enamel MP:0003933 abnormal cementum morphology any strucutral anomaly in the bonelike rigid connective tissue covering the root of a tooth MP:0003934 abnormal pancreas development anomaly in the formation of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MP:0003935 abnormal craniofacial development anomaly in the process of forming the face and/or cranium MP:0003936 abnormal reproductive system development developmental anomaly of any of the organs involved in the reproductive system MP:0003937 obsolete abnormal limbs/digits/tail development OBSOLETE. anomaly of the formation of the digits, autopod, limbs, or tail MP:0003938 abnormal ear development developmental anomaly of any of the structures involved in the ear or vestibular system MP:0003939 abnormal myotome morphology any structural anomaly of the mesoderm that is derived from the somite that is fated to become the musculature MP:0003940 abnormal dermatome morphology any structural anomaly in the mesoderm that is derived from the somite that is fated to become the dermis MP:0003941 abnormal skin development anomaly in the formation of the membranous protective covering of the body MP:0003942 abnormal urinary system development any anomaly in the differentiation of the organ system that produces, stores, and eliminates urine MP:0003943 abnormal hepatobiliary system development developmental anomaly of any of the tissues of the liver or biliary system MP:0003944 abnormal T cell subpopulation ratio deviation from the standard ratios of T cell subpopulations (e.g. double positive to single positive ratio) compared to control samples MP:0003945 abnormal lymphocyte physiology any functional anomaly of any of the white blood cells that includes B cells, T cells, and NK cells MP:0003946 renal necrosis morphological changes resulting from pathological death of renal tissue; usually due to irreversible damage MP:0003947 abnormal cholesterol level anomaly in the amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MP:0003948 abnormal gas homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of gaseous elements in animal tissues or blood MP:0003949 abnormal circulating lipid level anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the blood MP:0003950 abnormal plasma membrane morphology any structural anomaly of the semi-permeable membrane that encloses the cytoplasm of a cell MP:0003951 abnormal copper homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of copper that is a cofactor in a number of proteins including amine oxidases and chaperone proteins MP:0003952 abnormal copper level anomaly in the concentration in the body of the metallic element atom that has formula Cu, and normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins MP:0003953 abnormal hormone level aberrant tissue or circulating concentration of any substance, usually a peptide or steroid, that has a specific metabolic regulatory effect on the activity or behavior of cells expressing a receptor for the hormone MP:0003954 abnormal Reichert's membrane morphology any structural anomaly of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm; required for the maternofetal exchange of nutrients and is important for the postgastrulation development MP:0003955 abnormal ultimobranchial body morphology any structural anomaly of the outpocketing of the caudal-most branchial pouch of the embryo (interpreted as a fifth pouch in human or as the ventral component of the fourth pouch in mouse) that fuses with the thyroid diverticulum, ultimately giving rise to calcitonin-producing parafollicular cells (aka C-cells) which function in calcium homeostasis; in most mammals, these parafollicular cells fully disperse with the endodermally derived follicular cells of the thyroid by birth MP:0003956 abnormal body size anomaly in the average body weight, height and/or length of an organism compared to controls MP:0003957 abnormal nitric oxide homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of nitric oxide, a free radical gas and a potent vasodilator MP:0003958 heart valve hyperplasia increase in the number of normal cells in normal arrangement in any of the heart valves, typically resulting in increased size MP:0003959 abnormal lean body mass anomaly in the amount of the fat-free physical bulk or volume of the body including all its components except adipose tissue MP:0003960 increased lean body mass greater amount of the fat-free physical bulk or volume of the body including all its components except adipose (fat) tissue MP:0003961 decreased lean body mass reduced amount of the fat-free physical bulk or volume of the body including all its components except adipose (fat) tissue MP:0003962 abnormal adrenaline level aberrant concentration in the blood or tissues of this catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels MP:0003963 abnormal corticosterone level anomalous blood or tissue amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion MP:0003964 abnormal noradrenaline level aberrant amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine MP:0003965 abnormal pituitary hormone level aberration in the blood or tissue concentration of any of the hormones secreted by the pituitary MP:0003966 abnormal adrenocorticotropin level anomaly in the level of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex MP:0003967 abnormal follicle stimulating hormone level anomalous concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis MP:0003968 abnormal growth hormone level anomalous concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization MP:0003969 abnormal luteinizing hormone level aberrant levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary MP:0003970 abnormal prolactin level anomalous concentration of the hormone that stimulates milk secretion MP:0003971 abnormal thyroid-stimulating hormone level anomalous concentration of the hormone that stimulates the growth and function of the thyroid gland MP:0003972 decreased pituitary hormone level less than the expected amount of any of the pituitary hormones in the blood or tissues MP:0003973 increased pituitary hormone level greater than the expected amount of any of the pituitary hormones in the blood or tissues MP:0003974 abnormal endocardium morphology any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the heart MP:0003975 increased circulating VLDL triglyceride level higher than average concentration in the blood of very low density lipoprotein, which normally transports triglycerides from the intestine and liver to muscle and adipose tissue MP:0003976 decreased circulating VLDL triglyceride level lower than average concentration in the blood of very low density lipoprotein, which normally transports triglycerides from the intestine and liver to muscle and adipose tissue MP:0003977 abnormal circulating carnitine level aberrant concentration in the blood of carnitine, a quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane MP:0003978 decreased circulating carnitine level lower than normal blood concentration of this quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane MP:0003979 increased circulating carnitine level greater than normal blood concentration of this quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane MP:0003980 increased circulating phospholipid level greater concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group MP:0003981 decreased circulating phospholipid level reduced concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group MP:0003982 increased cholesterol level greater than normal amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MP:0003983 decreased cholesterol level less than normal amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MP:0003984 embryonic growth retardation slow or limited development during the embryonic period (sensu Mus: up to E14, or the completion of organogenesis) MP:0003985 renal fibrosis formation of fibrous tissue in the kidney as a result of repair or a reactive process MP:0003986 small cochlear ganglion reduced size of the cochlear ganglion or of the sensory neuron cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve) MP:0003987 small vestibular ganglion reduced size of the vestibular ganglion or of the sensory neuron cell bodies associated with the eighth cranial nerve MP:0003988 disorganized embryonic tissue a lack of the regular arrangement of any embryonic tissues MP:0003989 abnormal barrel cortex morphology any structural anomaly of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae MP:0003990 decreased neurotransmitter release reduced production or release of endogenous signaling molecules normally secreted by neurons that alter the behavior of neurons or effector cells MP:0003991 arteriosclerosis thickening, hardening and/or loss of elasticity of the walls of arteries MP:0003992 increased mortality induced by ionizing radiation greater sensitivity to doses of ionizing radiation that include ultraviolet light, X-rays, or gamma rays, resulting in death MP:0003993 abnormal ventral spinal root morphology any structural anomaly of the anterior bundle of nerves emerging from the spinal cord to join with the posterior/dorsal nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves MP:0003994 abnormal dorsal spinal root morphology any structural anomaly of the posterior bundle of nerves emerging from the spinal cord to join with the anterior/ventral nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves MP:0003995 abnormal uterine artery morphology any structural anomaly of the branch of the internal iliac artery that supplies the uterus and the upper part of the vagina MP:0003996 clonic seizures increased number or decreased threshold for the induction of a seizure characterized by unilateral or bilateral rhythmic jerking movements of the arms and legs caused by alternating contraction and relaxation of muscle MP:0003997 tonic-clonic seizures increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements MP:0003998 decreased thermal nociceptive threshold a lower than average point at which thermal pain sensation is first detectable MP:0003999 enhanced passive avoidance behavior increase in the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously MP:0004000 impaired passive avoidance behavior decrease in or absence of the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously MP:0004001 decreased hepatocyte proliferation reduction in the expansion rate of the hepatocyte cell population by cell division MP:0004002 abnormal jejunum morphology any structural anomaly of the portion of the small intestine that extends from the duodenum to the ileum MP:0004003 abnormal vascular endothelial cell physiology anomaly in the function of the cells that line the vasculature MP:0004004 patent ductus venosus failure of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein (that allows oxygenated blood to bypass the developing liver) to close in adults MP:0004005 impaired contractility of intestinal smooth muscle inability or reduced ability of intestinal smooth muscle to shorten or to develop increased tension MP:0004006 impaired contractility of jejunal smooth muscle inability or reduced ability of the jejunal smooth muscle to shorter or to develop increased tension MP:0004007 abnormal lung vasculature morphology any structural anomaly of the blood vessels of the lung MP:0004008 abnormal GABA-mediated receptor currents change in the measured amplitude, current density or duration of response to stimulation of GABA receptors MP:0004009 abnormal diastolic filling velocity anomaly in the rate of fluid inflow to the heart during diastole compared to controls; usually measured in the left ventricle; altered filling velocity often contributes to various cardiovascular disorders MP:0004010 increased diastolic filling velocity greater rate of fluid inflow to the heart during diastole compared to controls; usually measured in the left ventricle; altered filling velocity often contributes to various cardiovascular disorders MP:0004011 decreased diastolic filling velocity reduction in the rate of fluid inflow to the heart during diastole compared to controls; usually measured in the left ventricle; altered filling velocity often contributes to various cardiovascular disorders MP:0004012 increased pulmonary artery pressure increased pulmonary pressure compared to controls MP:0004013 decreased pulmonary artery pressure reduced pulmonary pressure compared to controls MP:0004014 abnormal uterine environment anomaly or inability of the uterus to support embryonic development MP:0004015 abnormal oviduct environment anomaly or inability of the oviduct to support egg viability MP:0004016 decreased bone mass a reduction in the total amount of bone tissue contained in the skeleton MP:0004017 duplex kidney a kidney that is split into two separate collecting systems; there may be a duplex ureter or a single ureter; may present unilaterally or bilaterally MP:0004018 abnormal galactose homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of galactose in the fluids and tissues MP:0004019 abnormal vitamin homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of organic substances found in food and are not synthesized by the body and are necessary in trace amounts for normal metabolic function MP:0004020 polyhydramnios abnormally high amniotic fluid volume; may result from maternal diabetes, chromosomal abnormalities or other congenital abnormalities MP:0004021 abnormal rod electrophysiology any functional anomaly of dark adapted vision mediated by the rods MP:0004022 abnormal cone electrophysiology any functional anomaly of light adapted vision mediated by the cones MP:0004023 abnormal chromosome number chromosome count is other than the expected diploid chromosome number MP:0004024 aneuploidy chromosome count is not an exact multiple of the haploid number MP:0004025 polyploidy more than two chromosome sets are present MP:0004026 monosomy one chromosome missing from an otherwise diploid chromosome set MP:0004027 trisomy presence of an extra chromosome in an otherwise diploid chromosome set MP:0004028 chromosome breakage chromosome instability in the form of increased frequency of spontaneous breakage with or without rearrangements MP:0004029 spontaneous chromosome breakage chromosome breakage due to inherent instability of chromosomes MP:0004030 induced chromosome breakage chromosome breakage following treatment with a DNA-damaging agent MP:0004031 insulitis a histological change in the islets of Langerhans characterized by edema and the infiltration of small numbers of white blood cells MP:0004032 abnormal interventricular groove morphology any structural anomaly of the indentation dividing the two ventricles, comprised of the sulcus interventricularis anterior and the sulcus interventricularis posterior MP:0004033 supernumerary teeth presence of a supernumerary, i.e., extra, tooth or teeth MP:0004034 belly blaze the appearance of a stripe or zigzag of white fur on the ventrum MP:0004035 abnormal sublingual gland morphology any structural anomaly of the small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland MP:0004036 abnormal muscle relaxation altered ability of the muscle to lengthen following contractions MP:0004037 increased muscle relaxation greater than the normal ability of the muscle to lengthen following contractions or increase in the ability of the muscle to lengthen following contractions MP:0004038 lymphangiectasis stretched or widened aperture of the luminal space of one or more of the lymphatic vessels MP:0004039 abnormal cardiac muscle cell glucose uptake anomalous ability of the cells of the heart muscle to take in glucose MP:0004040 abnormal susceptibility to kidney reperfusion injury a change in the likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia MP:0004041 increased susceptibility to kidney reperfusion injury an increased likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia MP:0004042 decreased susceptibility to kidney reperfusion injury a diminished likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia MP:0004043 abnormal pH regulation anomaly in the function of the buffer systems of the body in combination with the respiratory and renal systems that control the relative acidity or alkalinity of the body, as measured by the concentration of hydrogen ion MP:0004044 aortic dissection a pathologic process, characterized by splitting of the media layer of the aorta, which leads to formation of a dissecting aneurysm MP:0004045 abnormal cell cycle checkpoint function anomaly in the amount of time spent at the points in the cell cycle (end of G1 phase, end of G2 phase, and during metaphase) which prevent the cell from progressing to the next phase when conditions are unfavorable MP:0004046 abnormal mitosis anomaly in the process of cell division including both division of the nucleus (karyokinesis) and the cytoplasm (cytokinesis) MP:0004047 abnormal milk composition anomaly in one or more of the constituents of milk including protein, lipid, and/or mineral content or in the appearance of milk MP:0004048 obsolete increased resistance to addictive substance OBSOLETE. increased threshold to obtain a physiological or behavioral response to an addictive substance MP:0004049 increased acute promyelocytic leukemia incidence higher than normal incidence of cancer characterized by rapid onset of abnormal leukocyte proliferation, manifesting as a severe bleeding disorder from coagulation abnormalities, and bone marrow infiltration of abnormal promyelocytes and myelocytes MP:0004050 abnormal renal sympathetic nerve activity any anomaly in the stimulation transmitted by the sympathetic nerves to the kidneys that is primarily adrenergic and modifies kidney function MP:0004051 increased renal sympathetic nerve activity elevation in the stimulation transmitted by the sympathetic nerves to the kidneys that is primarily adrenergic and modifies kidney function MP:0004052 decreased renal sympathetic nerve activity reduction in the stimulation transmitted by the sympathetic nerves to the kidneys that is primarily adrenergic and modifies kidney function MP:0004053 abnormal synchondrosis anomalous or persistent cartilaginous fusion of two bones MP:0004054 abnormal periocular mesenchyme morphology any structural anomaly of the mesenchymal cells that give rise to the corneal endothelium, corneal stroma, sclera, iris stroma, ciliary muscle, ciliary stroma, and trabecular meshwork of the eye MP:0004055 heart atrium hypoplasia decrease in the number of normal cells in normal arrangement in the heart atrium, typically resulting in decreased size MP:0004056 abnormal myocardium compact layer morphology any structural anomaly of the outer, dense layer of the myocardium uniting the epicardium and myocardium MP:0004057 thin myocardium compact layer reduced thickness of the outer, dense layer of the myocardium MP:0004058 abnormal ventricle papillary muscle morphology any structural anomaly of one of the group of myocardial bundles which terminate in the chordae tendineae that attach to the cusps of the atrioventricular valves; each ventricle has an anterior and a posterior papillary muscle; the right ventricle sometimes has a septal papillary muscle MP:0004060 absent papillary muscle absence of one of the group of myocardial bundles which terminate in the chordae tendineae that attach to the cusps of the atrioventricular valves; each ventricle has an anterior and a posterior papillary muscle; the right ventricle sometimes has a septal papillary muscle MP:0004061 papillary muscle hypoplasia decrease in the number of normal cells in normal arrangement in the papillary muscle, typically resulting in decreased size MP:0004062 dilated heart right atrium the luminal space of the right upper chamber of the heart is increased in volume or area, usually with an increase in contained fluid MP:0004063 dilated heart left atrium the luminal space of the left upper chamber of the heart is increased in volume or area, usually with an increase in contained fluid MP:0004064 decreased susceptibility to induced muscular atrophy less than expected wasting of muscle tissue after experimental manipulation (starvation, neurectomy, immobilization, etc) MP:0004065 increased susceptibility to induced muscular atrophy greater than expected wasting of muscle tissue after experimental manipulation (starvation, neurectomy, immobilization, etc) MP:0004066 abnormal primitive node morphology any structural anomaly of the regional thickening of cells at the rostral tip of the vertebrate primitive streak through which gastrulating cells migrate anteriorly to form tissues in the future head and neck; this region organizes the formation of the three embryonic layers and establishes the longitudinal axis and the polarity of the embryo MP:0004067 abnormal trabecula carnea morphology any structural anomaly of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart MP:0004068 dilated dorsal aorta stretched or widened aperture of the luminal space of one or both of the pair of arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation MP:0004069 abnormal muscle spindle morphology any structural anomaly of the sensory organs in muscle that are involved in the stretch reflex MP:0004070 abnormal P wave any anomaly in the P wave which represents atrial depolarization and corresponds to electrical impulses rather than mechanical atria contractions; irregular or absent P waves may indicate arrhythmia and the shape of the P waves may indicate atrial problems MP:0004071 prolonged P wave increase in the length of time of the P wave electrical impulses, measured from the beginning to the end of the P wave MP:0004072 abnormal frontal plane axis any anomaly found in the sum of all electrical currents in the heart during systole MP:0004073 caudal body truncation caudal part of body truncated; typically with the rostral portion of the body relatively normal MP:0004074 abnormal Schwann cell precursor morphology any structural anomaly of the progenitors of cells that sheath the axons of the peripheral nervous system MP:0004075 decreased Schwann cell precursor number fewer numbers than normal of the progenitors of cells that sheath the axons of the peripheral nervous system MP:0004076 abnormal vitelline vascular remodeling anomaly in the conversion of the primary (honeycomb-like) vascular plexus of the yolk sac into a mature vascular network MP:0004077 abnormal striatum morphology any structural anomaly of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking MP:0004078 abnormal caudate nucleus morphology any structural anomaly of one or both C-shaped structures that border the lateral ventricle wall and contain input neurons involved with control of voluntary movement in the brain MP:0004079 abnormal putamen morphology any structural anomaly of the lens-shaped basal ganglion involved with control of voluntary movement in the brain MP:0004080 abnormal nucleus accumbens morphology any structural anomaly of the group of neurons located at the head of the caudate nucleus and anterior to the putamen; these neurons normally are involved in sensations of pleasure and reactions to addictive substances MP:0004081 abnormal globus pallidus morphology any structural anomaly of one of the basal ganglia involved with control of voluntary movement in the brain; consists of an external and an internal segment MP:0004082 abnormal habenula morphology any structural anomaly in the group of nuclei that makes up the small eminence on the dorsomedial surface of the thalamus, just in front of the dorsal commissure on the lateral edge of the habenular trigone MP:0004083 polysyndactyly greater than the normal complement of digits present on an autopod with interdigital webbing also present MP:0004084 abnormal cardiac muscle relaxation altered ability of the cardiac/heart muscle to lengthen following contractions, often measured by dP/dt min MP:0004085 abnormal heartbeat anomaly in the appearance of regularly spaced contractions of the heart due to defects in the frequency, rate, pattern or extent of heart contraction MP:0004086 absent heartbeat lack of a spontaneously beating heart (usually due to defects in the calcium delivery mechanism or loss of a functional contractile apparatus) MP:0004087 abnormal muscle fiber morphology any structural anomaly of the muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated MP:0004088 abnormal sarcoplasmic reticulum morphology any structural anomaly in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere MP:0004089 dilated sarcoplasmic reticulum an expansion in the volume in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere MP:0004090 abnormal sarcomere morphology any structural anomaly in the segment of a myofibril between two Z lines comprised of multi-protein complexes composed of three different filament systems; these systems work together to contract and relax muscle MP:0004091 abnormal Z line morphology any structural anomaly in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere MP:0004092 absent Z line missing the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere MP:0004093 diffuse Z line widely spread cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere MP:0004094 abnormal M line morphology any structural anomaly of the band in the center of the H band that contains proteins that crosslink the thick filament system (myosins) and the M-band part of the elastic filaments MP:0004095 ocular distichiasis presence of a double row of eyelashes on an eyelid, one or both of which are turned in against the eyeball MP:0004096 abnormal midbrain-hindbrain boundary development anomaly in the formation of the midbrain-hindbrain domain, comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; an organizing center at the boundary patterns the midbrain and hindbrain primordia of the neural plate MP:0004097 abnormal cerebellar cortex morphology any structural anomaly of the thin mantle of grey matter that covers the surface of each cerebral hemisphere, including the six layers of nerve cells and the nerve pathways that connect them; together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function MP:0004098 abnormal cerebellar granule cell morphology any structural anomaly of the small neurons of the cerebellar granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites MP:0004099 abnormal cerebellar glomerulus morphology any structural anomaly of an intertwined cluster of nerve fibers surrounded by glia where mossy fibers from the pontine nuclei in the white matter synapse with granule cell axons, Golgi cell axons and unipolar brush interneuron axons MP:0004100 abnormal spinal cord interneuron morphology any structural anomaly of neurons that exclusively interact with other neurons in the spinal cord MP:0004101 abnormal brain interneuron morphology any structural anomaly of neurons that exclusively interact with other neurons in the brain; this includes most brain neuronal cell types MP:0004102 abnormal dorsal striatum morphology any structural anomaly of the regions of the caudate nucleus and the putamen that lie dorsal to the anterior commissure MP:0004103 abnormal ventral striatum morphology any structural anomaly of the regions of the nucleus accumbens and some nuclei of the olfactory tubercle that lie ventral to the anterior commissure MP:0004105 cornea abrasion scraping away or denuding of the corneal surface MP:0004106 lymphatic vessel hyperplasia increase in the number of normal cells in normal arrangement in the lymphatic vessels, typically resulting in increased size MP:0004107 abnormal thoracic duct morphology any structural anomaly in the largest collecting lymph vessel in the body, beginning at the cisterna chyli at about the level of the second lumbar vertebra, and drains into the systemic (blood) circulation at the left brachiocephalic vein between the left subclavian and left internal jugular veins MP:0004108 abnormal esophageal peristalsis altered esophageal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls that move the esophagus contents forward MP:0004109 abnormal Sertoli cell development anomalous differentiation of cells that support germ cell differentiation in males MP:0004110 transposition of great arteries cardiovascular structural anomaly in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle MP:0004111 abnormal coronary artery morphology any structural anomaly of any of the arteries that branch from the ascending aorta to supply blood to the heart MP:0004112 abnormal arteriole morphology any structural anomaly of the small diameter vessels that branch from the arteries and lead to the capillaries MP:0004113 abnormal aortic arch morphology any structural anomaly of the convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery MP:0004114 abnormal atrioventricular node morphology any structural anomaly of the small nodular mass of specialized muscle fibers located in the interatrial septum near the opening of the coronary sinus; this node gives rise to the electrical connection between the atria and ventricles and responds to the sinoatrial node MP:0004115 abnormal sinoatrial node morphology any structural anomaly of the small mass of modified cardiac muscle fibers located at the junction of the superior vena cava and the right atrium that is the source of contraction impulses for the heart MP:0004116 abnormal atrioventricular bundle conduction anomaly in the transfer of cardiac electrical impulses through the specialized cardiac muscle fibers that originates in the atrioventricular node and extends into the ventricle MP:0004117 abnormal atrioventricular bundle morphology any structural anomaly of the specialized cardiac muscle fibers that originates in the atrioventricular node and extends into the ventricle MP:0004118 abnormal baroreceptor morphology any structural anomaly in the sensory nerve endings in the wall of the atria of the heart, vena cava, aortic arch and carotid sinus that are sensitive to changes in blood pressure MP:0004119 hypokalemia excessively low concentrations of potassium in the circulating blood; may be chronic or due to gastrointestinal and kidney depletion due to infection MP:0004120 cardiac ischemia inadequate blood flow to the heart; may cause infarction and is usually caused by coronary artery disease MP:0004121 abnormal sarcolemma morphology any structural anomaly in the plasma membrane of a muscle fiber that is capable of conducting electrical impulses MP:0004122 abnormal sinus arrhythmia any anomaly in the normal phenomenon of mild acceleration and slowing of the heart rate that occurs during the respiratory cycle MP:0004123 abnormal impulse conducting system morphology any structural anomaly in the impulse-conducting system composed of modified cardiac muscle and having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart MP:0004124 abnormal Purkinje fiber morphology any structural anomaly in the cardiac muscle fibers composing the terminal portion of the heart conduction system located in the ventricle MP:0004125 abnormal venule morphology any structural anomaly of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins MP:0004126 thin hypodermis reduced thickness of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia MP:0004127 thick hypodermis increase in the width of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia MP:0004129 abnormal respiratory quotient anomaly in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls MP:0004130 abnormal muscle cell glucose uptake anomaly in the ability of muscle cells to take in glucose MP:0004131 abnormal motile primary cilium morphology any structural anomaly of the cilia of the embryo found on the cells of the embryonic node, which generate flow of extraembryonic fluid surrounding the node in a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization MP:0004132 absent embryonic cilia absence of cilia on the cells of the embryonic node MP:0004133 heterotaxia abnormal arrangement of organs or parts of the body in relation to each other according to the left-right axis MP:0004134 abnormal chest morphology any structural anomaly of the part of the body between the neck and the abdomen MP:0004135 abnormal mammary gland embryonic development aberration in the differentiation of the mammary gland during early embryogenesis MP:0004136 abnormal tongue muscle morphology any structural anomaly of the muscular portion of the tongue MP:0004137 abnormal gastric surface mucous cell morphology any structural anomaly of the mucus secreting epithelial cells that line the luminal surface of the stomach and the gastric pits which secrete mucus and HCO3- to protect the gastric surface from the acidic environment of the stomach MP:0004138 abnormal mucous neck cell morphology any structural anomaly of the mucin-producing epithelial cells present in the neck of the gastric glands MP:0004139 abnormal gastric parietal cell morphology any structural anomaly of the gastric acid producing epithelial cells that are distributed throughout the length of the gastric gland MP:0004140 abnormal gastric chief cell morphology any structural anomaly of the pepsinogen producing epithelial cells that are clustered at the base of the gastric gland MP:0004141 abnormal enteroendocrine cell morphology any structural anomaly of the various hormone- or neurotransmitter-secreting epithelial cells present throughout the mucosa of the digestive tract MP:0004142 abnormal muscle tone anomaly in the resting tautness or laxity of a muscle, normally somewhere in the middle of the range between total contraction and total relaxation MP:0004143 muscle hypertonia increased muscle tension resulting in stiffness of the muscles in the resting state MP:0004144 hypotonia decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness MP:0004145 abnormal muscle electrophysiology any functional anomaly of the musculature as it relates to electrical phenomena MP:0004146 absent M line missing the band in the center of the H band that contains proteins that crosslink the thick filament system (myosins) and the M-band part of the elastic filaments MP:0004147 increased porphyrin level elevated concentration of porphyrins or protoporphyrins MP:0004148 increased compact bone thickness thicker than normal superficial layer of compact bone MP:0004149 increased bone strength increased ability of bone to endure the application of force without yielding or breaking MP:0004150 absent caveolae absence of the small pockets, vesicles, caves, or recesses communicating with the outside of a cell and extending inward, indenting the cytoplasm and the cell membrane MP:0004151 decreased circulating iron level less than the normal concentration of iron in the blood MP:0004152 abnormal circulating iron level anomalous blood concentration of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes MP:0004153 increased renal tubule apoptosis increase in the number of renal tubule cells undergoing programmed cell death MP:0004154 renal tubular necrosis morphological changes resulting from pathological death of renal tubular tissue; usually due to irreversible damage MP:0004155 decreased susceptibility to induced pancreatitis reduced or absent inflammatory response in the pancreatic tissue after experimental manipulation MP:0004156 abnormal QT variability anomaly in the index of beat-to-beat QT interval fluctuations (temporal QT interval variability), normally expressed as a unitless negative number reflecting beat-to-beat changes in ventricular repolarization; an increased, positive QTVI number indicates significant repolarization abnormalities MP:0004157 interrupted aortic arch complete discontinuation between the ascending and descending aorta; includes Type A, interruption distal to the subclavian artery that is ipsilateral to the second carotid artery, and Type B, interruption between second carotid artery and ipsilateral subclavian artery MP:0004158 right aortic arch the aortic arch lies to the right of the trachea and esophagus; results from persistence of the entire right dorsal arch and involution of a segment of the left arch MP:0004159 double aortic arch defect in which the main aorta tube splits into large left and right branches (right and left aortic arches), encircling the trachea and esophagus, before becoming one tube to go to the lower body MP:0004160 retroesophageal right subclavian artery the subclavian artery aberrantly originates from the aortic arch distal to the origin of the left subclavian artery, i.e., it is the last branch of the aortic arch MP:0004161 cervical aortic arch aortic arch is located above the level of the clavicle MP:0004162 abnormal mammillary body morphology any structural anomaly of the protrusion at the posterior end of the hypothalamus that contains hypothalamic nuclei MP:0004163 abnormal adenohypophysis morphology any structural anomaly of the anterior part of the pituitary that secretes a variety of hormones; its function is regulated by the hypothalamus MP:0004164 abnormal neurohypophysis morphology any structural anomaly of the posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormone MP:0004165 abnormal lateral geniculate nucleus morphology any structural anomaly of the group of neurons that serve as the primary processor of visual information received from the retina via the optic tract and send processed information to the visual cortex of the occipital lobe MP:0004166 abnormal limbic system morphology any structural anomaly of any of a collection of structures in the brain involved in emotion, motivation and emotional aspects of memory; these structures act together to control the endocrine system and the autonomic nervous system MP:0004167 abnormal cingulate gyrus morphology any structural anomaly of the ridge in the cerebral cortex located dorsal to the corpus callosum that controls autonomic functions regulating heart rate and blood pressure as well as cognitive and attentional processing MP:0004168 abnormal parahippocampal gyrus morphology any structural anomaly of the ridge in the cerebral cortex that contains the olfactory cortex and that plays a role in the formation of topographical memory MP:0004169 abnormal fornicate gyrus morphology any structural anomaly of the horseshoe-shaped gyrus of the cerebral cortex that consists of the cingulate gyrus and the parahippocampal gyrus MP:0004170 abnormal orbitofrontal cortex morphology any structural anomaly of the region of the cerebral cortex covering the basal surface of the frontal lobes; this region normally controls emotion and decision making MP:0004171 abnormal pallium development anomaly in the progression of the formation of the roof region of the telencephalon MP:0004172 abnormal subpallium development anomaly in the progression of the formation of the base region of the telencephalon MP:0004173 abnormal intervertebral disk morphology any structural anomaly of the cartilaginous and gelatinous structure found between vertebrae MP:0004174 abnormal spine curvature deviation from the typical S-shape of the spine MP:0004175 telangiectasia vascular lesion formed by dilation of a group of small blood vessels MP:0004176 ear telangiectasia vascular lesion formed by dilation of a group of small blood vessels in the ear MP:0004177 tail telangiectasia vascular lesion formed by dilation of a group of small blood vessels in the tail MP:0004178 neck telangiectasia vascular lesion formed by dilation of a group of small blood vessels in the neck MP:0004179 transmission ratio distortion the frequency that an allele or haplotype in the offspring of an organism deviates from expected Mendelian ratios MP:0004180 failure of initiation of embryo turning failure to begin the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage MP:0004181 abnormal carotid artery morphology any structural anomaly of the bilaterally paired branched arteries that deliver oxygenated nutrient filled blood from the heart to the head, neck, and brain; of the two common carotid arteries, which extend headward on each side of the anterior neck, the left originates in the arch of the aorta over the heart; the right originates in the brachiocephalic trunk, the largest branch from the arch of the aorta; each common carotid artery divides into an external and an internal carotid artery near the top of the thyroid MP:0004182 abnormal spermiation anomaly in the process by which mature spermatids are released from the supporting Sertoli cells into the lumen of seminiferous tubules prior to their passage to the epididymis MP:0004183 abnormal sympathetic nervous system physiology any functional anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations MP:0004184 abnormal baroreceptor physiology any functional anomaly of the sensory nerve endings found in the wall of the atria of the heart, vena cava, aortic arch and carotid sinus that are sensitive to changes in blood pressure MP:0004185 abnormal adipocyte glucose uptake anomaly in the ability of adipocytes to take in glucose MP:0004186 abnormal area postrema morphology any structural anomaly of the small, elevated area in the lateral wall of the inferior recess of the fourth ventricle, involved in the control of cardiorespiratory physiology; in addition, the area postrema is the location of the chemotoxic trigger zone at which emesis (vomiting) is induced by various toxins in the blood stream and that affect the hypothalamus to induce taste aversion MP:0004187 cardia bifida failure of the bilateral myocardial cells to coalesce into a single central heart tube resulting in the presence of two independent hearts MP:0004188 delayed embryo turning completion of axial rotation occurs later than in controls but is eventually completed MP:0004189 abnormal alveolar process morphology any structural anomaly of the thickened ridge of bone in the mandible and maxilla that holds the tooth sockets MP:0004190 abnormal direction of embryo turning axial rotation of the embryo in a direction other than the normal anticlockwise direction when viewed towards the caudal pole during the late primitive streak/early somite stage; clockwise rotation is frequently associated with heart and visceral defects MP:0004191 neuronal intranuclear inclusions presence of aggregates of protein within the nuclei of neurons; frequently seen in Huntington's disease MP:0004192 abnormal kidney pyramid morphology any structural anomaly of the conical mass of tissue, containing part of the secreting and collecting tubules, whose base faces the renal cortex MP:0004193 abnormal kidney papilla morphology any structural anomaly of the apex of the renal pyramid that projects into a calyx MP:0004194 abnormal kidney pelvis morphology any structural anomaly of the area at the center of the kidney formed by convergence of the major calices where urine collects and is funneled into the ureter MP:0004195 abnormal kidney calyx morphology any structural anomaly of any of the branches of the renal pelvis that surround each renal papilla and collect urine MP:0004196 abnormal prenatal growth/weight/body size limited or accelerated growth or development apparent before birth MP:0004197 abnormal fetal growth/weight/body size limited or accelerated growth or development apparent during the fetal period (sensu Mus: from E14 through birth) MP:0004198 abnormal fetal size anomalous proportions of a fetus compared to littermates (sensu Mus: from E14 through birth) MP:0004199 increased fetal size larger proportions of a fetus compared to littermates (sensu Mus: from E14 through birth) MP:0004200 decreased fetal size smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth) MP:0004201 fetal growth retardation slow or limited development during the fetal period (sensu Mus: from E14 through birth) MP:0004202 pulmonary hyperplasia increase in the number of normal cells in normal arrangement in the lung, typically resulting in increased size MP:0004203 abnormal cranial flexure morphology any structural anomaly or absence of the sharp, ventrally concave bend in the developing midbrain of the embryo MP:0004204 absent stapes absence of the smallest and innermost of the three auditory ossicles MP:0004205 absent hyoid bone absence of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles MP:0004206 abnormal dermomyotome development any structural anomaly of the portion of the embryonic somite that remains after migration of the sclerotomic tissue MP:0004207 increased squamous cell carcinoma incidence higher than normal incidence of a carcinoma that arises from stratified squamous epithelium that occurs in sites where glandular or columnar epithelium is normally present, such as the skin, esophagus, lungs and cervix MP:0004208 increased basal cell carcinoma incidence greater than the expected number of a slow-growing, invasive, but usually non-metastasizing neoplasm that originates from basal keratinocytes in the epidermis, occurring in a specific population in a given time period MP:0004209 abnormal sweet taste sensitivity changes in the ability to perceive a particular flavor or suggestion of something sweet by the chemoreceptors of the gustatory system MP:0004210 abnormal bitter taste sensitivity changes in the ability to perceive a particular flavor or suggestion of something bitter by the chemoreceptors of the gustatory system MP:0004211 abnormal sour taste sensitivity changes in the ability to perceive a particular flavor or suggestion of something sour by the chemoreceptors of the gustatory system MP:0004212 abnormal salty taste sensitivity changes in the ability to perceive a particular flavor or suggestion of something salty by the chemoreceptors of the gustatory system MP:0004213 abnormal umami taste sensitivity changes in the ability to perceive a particular flavor or suggestion of something umami (savory) by the chemoreceptors of the gustatory system MP:0004214 abnormal long bone diaphysis morphology any structural anomaly of the main or mid section (shaft) of a long bone MP:0004215 abnormal myocardial fiber physiology anomaly in the function of the terminally differentiated, non-proliferative, multinucleated muscle cells of the heart MP:0004216 salt-resistant hypertension sustained high blood pressure that is maintained regardless of the amount of salt consumed in the diet MP:0004217 salt-sensitive hypertension sustained high blood pressure that is maintained with a normal or increase in the amount of salt consumed in the diet; blood pressure may return to normotensive with a low salt diet MP:0004218 meiotic nondisjunction during M1 phase abnormal separation of pairs of homologous chromosomes during anaphase of the first meiotic division such that each daughter cell receives one set of paired chromosomes MP:0004219 meiotic nondisjunction during M2 phase abnormal separation of chromosomes during anaphase of the second meiotic division such that one complete chromosome goes to each daughter cell MP:0004220 abnormal peripheral nervous system regeneration anomaly in the renewal, repair, and/or regrowth of peripheral nervous system tissue following injury or disease MP:0004221 abnormal iridocorneal angle any structural anomaly of the acute angle occurring between the iris and the cornea at the periphery of the anterior chamber of the eye MP:0004222 iris synechia an adhesion (synechia) of the iris to the cornea or lens of the eye that may develop from glaucoma, cataracts, uveitis, or keratitis or as a complication of surgery or trauma to the eye; synechiae may prevent or impede flow of aqueous fluid between the anterior and posterior chambers of the eye, resulting in angle closure glaucoma MP:0004223 hypoplastic trabecular meshwork decrease in the number of normal cells in normal arrangement in the trabecular meshwork of the eye, typically resulting in decreased size MP:0004224 absent trabecular meshwork absence of the pore-like structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates MP:0004225 patent cardiac foramen ovale incomplete closure of the atrial septum after birth, resulting in a flap or a valve-like opening in the atrial septal wall MP:0004226 absent Schlemm's canal absence of the vascular structure encircling the anterior chamber of the eye, through which the aqueous humor is returned to the blood circulation MP:0004227 increased cellular sensitivity to ionizing radiation increased incidence of cell death following exposure to ionizing radiation MP:0004228 decreased cellular sensitivity to ionizing radiation decreased incidence of cell death following exposure to ionizing radiation MP:0004229 abnormal embryonic erythropoiesis anomaly in the development of primarily large, nucleated erythroblasts occurring in blood islands in the yolk sac, generally occurs from E7-E11 in the mouse and through 10 weeks in humans MP:0004230 abnormal embryonic erythrocyte morphology any structural anomaly of the embryonic blood cells that carry oxygen; embryonic erythrocytes arise from yolk sac blood islands and express different types of hemoglobins (beta-H1, gamma-1 and zeta) than adult erythrocytes, and can enucleate in circulation MP:0004231 abnormal calcium ion homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of calcium ions within the body or between a cell and its external environment MP:0004232 decreased muscle weight less than average muscle weight MP:0004233 abnormal muscle weight any anomaly in the average muscle weight MP:0004234 abnormal masticatory muscle morphology any structural anomaly of any of the muscles responsible for the movement of the jaws during mastication, including the masseter, temporal, and medial and lateral pterygoid muscles MP:0004235 abnormal masseter muscle morphology any structural anomaly of the masticatory muscle of posterior cheek with origin from the inferior border and medial surface of the zygomatic arch, with insertion into the lateral surface of the ramus of the mandible, with nerve supply from the masseteric nerve, and whose action closes the jaw during chewing MP:0004236 absent masseter muscle absence of the masticatory muscle of posterior cheek MP:0004237 abnormal pterygoid muscle morphology any structural anomaly of the muscles descending from the sphenoid bone to the lower jaw including the internal, or medial, pterygoid muscle and external, or lateral, pterygoid muscle; the action of the former is closing the jaws and that of the latter is opening the jaws, protruding the mandible, and moving the mandible from side to side MP:0004238 absent pterygoid muscle absence of either the internal or external or of both pterygoid muscles MP:0004239 abnormal temporalis muscle morphology any structural anomaly of the superior-most masticatory muscle whose action is closing the jaws; its posterior portion retracts the mandible MP:0004240 absent temporalis muscle absence of the superior-most masticatory muscle whose action is closing the jaws; its posterior portion retracts the mandible MP:0004241 acantholysis separation of prickle cells of the spinous layer of the epidermis, resulting in atrophy of the prickle cell layer, as in conditions such as pemphigus vulgaris and Darier disease MP:0004242 abnormal plasmacytoid dendritic cell morphology any structural anomaly of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli; plasmacytoid dendritic cells are found in the thymic medulla and lymph node T cell areas and are responsible for immune tolerance MP:0004243 abnormal motor nerve collateral sprouting aberrant response of a motor neuron to form new neuritic processes (sprouts) that emerge from the nodes of Ranvier or terminal arborizations in response to nerve injury (such as denervation), application of nerve toxin, or muscle inactivity (usually due to disease) MP:0004244 abnormal miscarriage rate change in frequency of a natural or accidental termination of a pregnancy at a stage where the embryo or the fetus is incapable of surviving independently of the mother MP:0004245 genital hemorrhage bleeding into the genitals MP:0004246 abnormal extensor digitorum longus morphology any structural anomaly of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle MP:0004247 small pancreas decrease of the size of the pancreas compared to controls MP:0004248 abnormal epaxial muscle morphology any structural anomaly of the muscles derived from the medial myotome; includes the intrinsic back muscles MP:0004249 abnormal crista ampullaris morphology any structural anomaly in the elevation found on the inner surface of the ampullae of each semicircular duct; filaments of the vestibular nerve pass through the crista to reach hair cells on its surface; the hair cells are capped by the cupula, a gelatinous protein-polysaccharide mass MP:0004250 tau protein deposits formation of self-assembled tangles of paired helical filaments and straight filaments due to hyperphosphorylation of the tau protein; often seen in neuronal tissues of individuals with neurodegenerative disorders MP:0004251 failure of heart looping failure of the primitive heart tube to loop asymmetrically during early development MP:0004252 abnormal direction of heart looping deviation from the characteristic rightward direction of looping of the primitive heart tube; frequently seen in heterotaxy syndromes MP:0004253 bifid atrial appendage a cardiac anomaly whereby the left or right atrial appendage is cleaved, forming two separate pouches connected by a thin strand of muscular tissue MP:0004254 cerebral amyloid angiopathy a pathological condition where there is a deposition of amyloid in the walls of the small cerebral vessels which supply the brain; this results in an increased risk of infarcts and/or intracerebral hemorrhage, possibly resulting in dementia MP:0004255 abnormal spongiotrophoblast layer morphology any structural anomaly of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors MP:0004256 abnormal maternal decidual layer morphology any structural anomaly of the maternal uterine-derived portion of the placenta MP:0004257 abnormal placenta weight any change in the weight of the organ of metabolic interchange between fetus and mother MP:0004258 abnormal placenta size anomaly in the size or shape of the organ of metabolic interchange between fetus and mother MP:0004259 small placenta reduced size of the size or shape of the organ of metabolic interchange between fetus and mother MP:0004260 enlarged placenta increased size of the size or shape of the organ of metabolic interchange between fetus and mother MP:0004261 abnormal embryonic neuroepithelium morphology any structural anomaly of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells MP:0004262 abnormal physical strength altered ability of an organism to exert force on physical objects or of the body to support its load MP:0004263 abnormal limb posture atypical intentionally or habitually assumed position of the limbs compared to the normal carriage of the body MP:0004264 abnormal extraembryonic tissue physiology any functional anomaly of the membranes involved with embryonic protection and nutrition MP:0004265 abnormal placental transport anomaly in the conveyance of metabolic products and nutrients across the placenta MP:0004266 pale placenta placenta lacking normal reddish coloration, often refers to bloodless condition MP:0004267 abnormal optic tract morphology any structural anomaly of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region MP:0004268 abnormal optic stalk morphology any structural anomaly of the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain MP:0004269 abnormal optic cup morphology any structural anomaly of double walled structure formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and neuronal layers of the retina, with the mouth of the optic cup developing into the pupil of the eye MP:0004270 analgesia inability to sense pain MP:0004272 abnormal basement membrane morphology anomaly in the structure, organization and/or placement of the extracellular supportive tissue adjacent to the basal surface of the epithelia, including the epithelium of muscle cells, fat cells and Schwann cells; it is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components and consists of two layers, the basal lamina and the lamina reticularis MP:0004273 abnormal basal lamina morphology any structural anomaly of the sheet of extracellular matrix characteristically situated under epithelial cells, around muscles, nerves, capillaries, and fat cells, and situated between these elements and the underlying or surrounding connective tissue MP:0004274 abnormal embryonic/fetal subventricular zone morphology any structural anomaly of the transient proliferative population of neurons that expands exponentially during late prenatal development; it is a continuous germinal zone distinct from the ventricular zone that surrounds the brain ventricles MP:0004275 abnormal postnatal subventricular zone morphology any structural anomaly of the mitotically active layer of cells surrounding the brain ventricles in the adult that consists of migrating neuroblasts, astrocytes and transitory amplifying progenitor cells MP:0004276 abnormal medial ganglionic eminence morphology any structural anomaly of a distinct elevation of a transient proliferating cell mass of the fetal subventricular zone; this mass contributes most of its cells to the neocortex; however, hippocampal neurons, thalamus, septum and olfactory bulb neurons are also partly derived from the MGE MP:0004277 abnormal lateral ganglionic eminence morphology any structural anomaly of a distinct elevation of a transient proliferating cell mass of the fetal subventricular zone; this mass contributes most of its cells to the striatum; however, neocortex, thalamus, septum and olfactory bulb neurons are also partly derived from the LGE MP:0004278 abnormal caudal ganglionic eminence morphology any structural anomaly of the caudally located, distinct elevation of a transient proliferating cell mass of the fetal subventricular zone, located adjacent to the lateral ventricle MP:0004279 abnormal rostral migratory stream morphology any structural anomaly of the transient structure formed by neurons migrating from the subventricular zone into the olfactory bulbs MP:0004280 abnormal oculomotor nucleus morphology any structural anomaly of the group of motor neurons in the floor of the midbrain that gives rise to motor fibers of the oculomotor nerve MP:0004281 abnormal hypoglossal nucleus morphology any structural anomaly of the group of motor neurons throughout most of the length of the medulla oblongata that give rise to the motor fibers of the hypoglossal nerve MP:0004282 retrognathia abnormal posterior-shifted positioning of the upper or lower jaw relative to the facial skeleton and soft tissues; a type of malocclusion, that is, misalignment of the teeth caused by abnormal positioning of the jaws; the mandible is more frequently affected than the maxilla MP:0004283 absent cornea endothelium absence of the single layer of large flattened cells that cover the surface of the cornea MP:0004284 abnormal Descemet membrane morphology any structural anomaly in the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea, considered to be a highly developed basement membrane MP:0004285 absent Descemet membrane absence of the transparent homogeneous acellular layer normally found between the substantia propria and the endothelial layer of the cornea MP:0004286 abnormal internal auditory canal morphology any structural anomaly in the canal beginning at the opening of the internal acoustic meatus in the posterior cranial fossa, passing laterally through the petrous portion of the temporal bone to end at the fundus, where a thin plate of bone separates it from the vestibule; it gives passage to the facial and vestibulocochlear nerves together with the labyrinthine artery and veins MP:0004287 abnormal spiral limbus morphology any structural anomaly in the border of the spiral lamina, i.e. the thickened periosteum covering the upper plate of the bony spiral lamina of the cochlea MP:0004288 abnormal spiral ligament morphology any structural anomaly in the thickened periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches MP:0004289 abnormal bony labyrinth any structural anomaly in the series of cavities (cochlea, vestibule, and semicircular canals) contained within the otic capsule of the petrous portion of the temporal bone; the bony labyrinth is filled with perilymph, in which the delicate, endolymph-filled membranous labyrinth is suspended MP:0004290 abnormal stapes footplate morphology any structural anomaly in the flat portion of the stapes that fits in the oval window MP:0004292 abnormal spiral ligament fibrocyte morphology any structural anomaly in the four types of fibrocytes (types I, II , III and IV) that constitute the spiral ligament MP:0004293 abnormal type I spiral ligament fibrocytes any structural anomaly of type I spiral ligament fibrocytes which occupy the region beneath the stria vascularis MP:0004294 abnormal type II spiral ligament fibrocytes any structural anomaly of type II spiral ligament fibrocytes found in the suprastrial zone and the central area of the spiral ligament beneath the spiral prominence MP:0004295 abnormal type III spiral ligament fibrocytes any structural anomaly of type III spiral ligament fibrocytes which form a cell layer attached to the otic capsule MP:0004296 abnormal type IV spiral ligament fibrocytes any structural anomaly of type IV spiral ligament fibrocytes found in the triangular space inferior to the basilar crest MP:0004297 abnormal proprioceptive neuron morphology any structural anomaly of the sensory neurons of the dorsal root ganglia that sense body position and send information about how much the muscle is stretched to the spinal cord MP:0004298 vestibular ganglion degeneration loss of the group of bipolar sensory nerve cell bodies concerned with equilibration that form a swelling on the vestibular part of the eighth cranial nerve in the fundus of the internal acoustic meatus MP:0004299 absent vestibular ganglion absence of the group of bipolar sensory nerve cell bodies concerned with equilibration that form a swelling on the vestibular part of the eighth cranial nerve in the fundus of the internal acoustic meatus MP:0004300 abnormal organ of Corti supporting cell morphology any structural anomaly in the highly differentiated epithelial cells with distinctive morphological features surrounding the hair cells in the organ of Corti; inner hair cells (IHCs) are normally surrounded by (inner and outer) phalangeal cells while OHCs are in contact with Deiters and pillar cells; Hensen cells are positioned further laterally in the organ of Corti MP:0004301 absent organ of Corti supporting cells absence of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti MP:0004302 abnormal Deiters cell morphology any structural anomaly in the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities MP:0004303 abnormal Hensen cell morphology any structural anomaly in the supporting cells that form the lateral border of the organ of Corti, immediately to the outer side of Deiters' cells MP:0004304 absent spiral limbus absence of the border of the spiral lamina, i.e. the thickened periosteum covering the upper plate of the bony spiral lamina of the cochlea MP:0004305 abnormal Rosenthal canal morphology any structural anomaly in the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea; it is divided incompletely into two compartments by a winding shelf of bone, the bony spiral lamina MP:0004306 small Rosenthal canal reduced size of the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea MP:0004307 absent Rosenthal canal absence of the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea MP:0004308 abnormal basilar membrane morphology any structural anomaly in the membrane extending from the bony spiral membrane to the basilar crest of the cochlea; it forms the greater part of the floor of the cochlear duct separating the latter from the scala tympani, and it supports the organ of Corti MP:0004309 absent otic vesicle absence of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear MP:0004310 small otic vesicle reduced size of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear MP:0004311 otic vesicle hypoplasia decrease in the number of normal cells in normal arrangement in the otic vesicle, typically resulting in decreased size MP:0004312 absent pillar cells absence of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti MP:0004313 absent vestibulocochlear ganglion absence of the group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia MP:0004314 absent inner ear vestibule absence of the cavity between the semicircular canals and the cochlea of the inner ear MP:0004315 absent vestibular saccule absence of the smaller of the two sacs in the vestibule MP:0004316 enlarged vestibular saccule enlarged size of the cavity between the semicircular canals and the cochlea of the inner ear MP:0004317 small vestibular saccule reduced size of the cavity between the semicircular canals and the cochlea of the inner ear MP:0004318 absent incus absence of the middle of the three auditory ossicles MP:0004319 absent malleus absence of the largest of the three auditory ossicles, which resembles a club or hammer MP:0004320 split sternum the appearance of an abnormal division in the long flat bone of the chest which articulates with clavicle and first seven rib pairs MP:0004321 short sternum reduced length of the long flat bone of the chest which articulates with clavicle and first seven rib pairs MP:0004322 abnormal sternebra morphology any structural anomaly of one segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum MP:0004323 sternum hypoplasia decrease in the number of normal cells in normal arrangement in the sternum, typically resulting in decreased size MP:0004324 vestibular hair cell degeneration degeneration or loss of the sensory epithelial cells of the maculae and cristae of the membranous labyrinth of the inner ear which are normally in synaptic contact with the vestibular nerve MP:0004325 absent vestibular hair cells absence of the sensory epithelial cells of the maculae and cristae of the membranous labyrinth of the inner ear which are normally in synaptic contact with the vestibular nerve MP:0004326 abnormal vestibular hair cell number abnormal number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear MP:0004327 increased vestibular hair cell number increased number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear which are normally in synaptic contact with the vestibular nerve MP:0004328 decreased vestibular hair cell number decreased number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear which are normally in synaptic contact with the vestibular nerve MP:0004329 vestibular saccular degeneration degeneration or loss of the smaller of the two sacs in the vestibule MP:0004330 abnormal vestibular saccular macula morphology any structural anomaly of the oval neuroepithelial sensory receptor in the anterior wall of the saccule; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies MP:0004331 vestibular saccular macula degeneration degeneration or loss of the oval neuroepithelial sensory receptor in the anterior wall of the saccule MP:0004332 utricular degeneration degeneration or loss of the larger of the two sacs in the vestibule MP:0004333 abnormal utricular macula morphology any structural anomaly of the neuroepithelial sensory receptor in the inferolateral wall of the utricle; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies; normally sensitive to linear acceleration in the longitudinal axis of the body and to gravitational influences MP:0004334 utricular macular degeneration degeneration or loss of the neuroepithelial sensory receptor in the inferolateral wall of the utricle MP:0004335 enlarged utricle increased size of the larger of the two sacs in the vestibule MP:0004336 small utricle reduced size of the larger of the two sacs in the vestibule MP:0004337 clavicle hypoplasia decrease in the number of normal cells in normal arrangement in the clavicle, typically resulting in decreased size MP:0004338 small clavicle reduced size of one or both of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula MP:0004339 absent clavicle missing one or both of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula MP:0004340 short scapula reduced length of either or both of the large, flat bones of the back part of the shoulder MP:0004341 absent scapula missing either or both of the large, flat bones of the back part of the shoulder MP:0004342 scapular bone foramen presence of a hole in either or both of the large, flat bones of the back part of the shoulder MP:0004343 small scapula reduced size of either or both of the large, flat bones of the back part of the shoulder MP:0004344 scapular bone hypoplasia decrease in the number of normal cells in normal arrangement in the scapular bone, typically resulting in decreased size MP:0004345 abnormal acromion morphology any structural anomaly of the lateral end of the spine of the scapula which projects as a broad flattened process and articulates with the clavicle, and forms the point of the shoulder MP:0004346 absent acromion lack of the lateral end of the spine of the scapula which projects as a broad flattened process and articulates with the clavicle, and forms the point of the shoulder MP:0004347 abnormal scapular spine morphology any structural anomaly of the triangular ridge on the dorsal aspect of the scapula which separates the supra- from the infraspinatous fossa and where the trapezius and deltoid muscles are attached MP:0004348 long femur increased length of the long bone of the thigh MP:0004349 absent femur missing the long bone of the thigh MP:0004350 long humerus increased length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below MP:0004351 short humerus reduced length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below MP:0004352 absent humerus missing one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below MP:0004353 abnormal deltoid tuberosity morphology any structural anomaly of a rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches MP:0004354 absent deltoid tuberosity missing the rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches MP:0004355 short radius reduced length of the short bone of the lateral forearm MP:0004356 radius hypoplasia decrease in the number of normal cells in normal arrangement in the radius, typically resulting in decreased size MP:0004357 long tibia increased length of the medial and larger of the two bones of the lower leg MP:0004358 bowed tibia increased curvature of the medial and larger of the two bones of the lower leg MP:0004359 short ulna reduced length of the medial and larger of the two bones of the forearm MP:0004360 absent ulna missing the medial and larger of the two bones of the forearm MP:0004361 bowed ulna increased curvature of the medial and larger of the two bones of the forearm MP:0004362 cochlear hair cell degeneration degeneration or loss of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve MP:0004363 stria vascularis degeneration degeneration or loss of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph MP:0004364 thin stria vascularis reduced thickness of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph MP:0004365 abnormal strial basal cell morphology any structural anomaly in the polarized cells which are juxtaposed to fibrocytes in the underlying spiral ligament MP:0004366 abnormal strial marginal cell morphology any structural anomaly in the polarized columnar cells of epithelial origin which cover the lateral surface of the cochlear duct, secrete potassium ions and form a continuous sheet in contact with the endolymph; marginal cells form extensive interdigitations with the basal and intermediate cells in the normal adult stria MP:0004367 abnormal strial intermediate cell morphology any structural anomaly in the melanocytes known to migrate from the neural crest during ontogeny to become located between the epithelial marginal cell layer and the mesodermal basal cell layer within the intrastrial space; the predominant cellular component of the electrogenic machinery that generates an endocochlear potential (80-100 mV) MP:0004368 abnormal stria vascularis vasculature morphology any structural anomaly of the blood vessels supplying the stria vascularis in the cochlea of the inner ear MP:0004369 absent utricle absence of the larger of the two sacs in the vestibule MP:0004370 long ulna increased length of the medial and larger of the two bones of the forearm MP:0004371 bowed femur increased curvature of the long bone of the thigh MP:0004372 bowed fibula increased curvature of the lateral and smaller bone of the lower limb MP:0004373 bowed humerus increased curvature of the bone of the forelimb that articulates with the scapula above and the radius and ulna below MP:0004374 bowed radius increased curvature of the short bone of the lateral forearm MP:0004375 enlarged frontal bone increased size of the bone forming the forehead and roof of the eye orbit MP:0004376 absent frontal bone absence of the bone forming the forehead and roof of the eye orbit MP:0004377 small frontal bone reduced size of the bone forming the forehead and roof of the eye orbit MP:0004378 frontal bone foramen presence of a hole in the bone forming the forehead and roof of the eye orbit MP:0004379 wide frontal bone increased width of the bone forming the forehead and roof of the eye orbit MP:0004380 short frontal bone reduced length of the bone forming the forehead and roof of the eye orbit MP:0004381 abnormal hair follicle melanocyte morphology any structural anomaly of the cells that produce pigment in the hair follicles MP:0004382 abnormal hair follicle melanogenesis failure of or anomaly in the biosynthetic pathway of melanin formation in hair follicles MP:0004383 absent interparietal bone absence of the bone of the cranium that lies above and anterior to the occipital bone in some mammals MP:0004384 small interparietal bone reduced size of the bone of the cranium that lies above and anterior to the occipital bone in some mammals MP:0004385 interparietal bone hypoplasia decrease in the number of normal cells in normal arrangement in the interparietal bone, typically resulting in decreased size MP:0004386 enlarged interparietal bone increased size of the bone of the cranium that lies above and anterior to the occipital bone in some mammals MP:0004387 abnormal prechordal plate morphology any structural anomaly of the horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue MP:0004388 absent prechordal plate absence of the horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue MP:0004389 abnormal respiratory bronchiole morphology any structural anomaly of the smallest bronchioles, which connect the terminal bronchioles to alveolar ducts and have alveoli rising from their walls MP:0004390 abnormal bronchoalveolar duct junction morphology any structural anomaly of the branch point connecting the respiratory bronchioles to the alveolar ducts MP:0004391 abnormal respiratory conducting tube morphology any structural anomaly of the tubes of the respiratory system that allow passage of air from the trachea to the terminal bronchioles MP:0004392 abnormal CD8-positive, alpha-beta T cell physiology any functional anomaly of the subset of T lymphocytes that express the CD8 marker on the cell surface MP:0004393 abnormal cochlear inner hair cell morphology any structural anomaly in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there is a single row of flask-shaped inner hair cells tightly surrounded by supporting interphalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a more or less linear (or shallow) U-shaped pattern extend from the cell's surface through the cuticular plate into the endolymphic space inferior to the tectorial membrane MP:0004394 abnormal cochlear inner hair cell number abnormal number of the flask-shaped inner hair sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve MP:0004395 increased cochlear inner hair cell number increased number (or more than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti MP:0004396 decreased cochlear inner hair cell number decreased number (or less than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti MP:0004397 absent cochlear inner hair cells absence of the single row of flask-shaped inner hair sensory cells of the organ of Corti MP:0004398 cochlear inner hair cell degeneration degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti MP:0004399 abnormal cochlear outer hair cell morphology any structural anomaly in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there are three rows of columnar outer hair cells largely surrounded by cortilymph and supporting phalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a V-shaped pattern extend from the cell's surface through the cuticular plate into the tectorial membrane MP:0004400 abnormal cochlear outer hair cell number abnormal number of the columnar outer hair sensory cells of the organ of Corti MP:0004401 increased cochlear outer hair cell number increased number (or more than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti MP:0004402 decreased cochlear outer hair cell number decreased number (or less than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti MP:0004403 absent cochlear outer hair cells absence of the columnar outer hair sensory cells of the organ of Corti MP:0004404 cochlear outer hair cell degeneration degeneration or loss of the columnar outer hair sensory cells of the organ of Corti MP:0004405 absent cochlear hair cells absence of the sensory epithelial cells of the cochlea; these cells are normally in synaptic contact with the auditory nerve MP:0004406 abnormal cochlear hair cell number abnormal number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve MP:0004407 increased cochlear hair cell number increased number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve MP:0004408 decreased cochlear hair cell number decreased number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve MP:0004409 abnormal crista ampullaris neuroepithelium morphology any structural anomaly in the specialized sensory hair cells of the ampullary crest of the ampulla of each semicircular duct MP:0004410 absent endocochlear potential absence of the electrical potential difference between the endolymphatic and perilymphatic compartments of the cochlea, indicating a primary defect in fluid homeostasis of the inner ear MP:0004411 decreased endocochlear potential reduction of the electrical potential difference between the endolymphatic and perilymphatic compartments of the cochlea MP:0004412 abnormal cochlear microphonics any anomaly in the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound; the cochlear microphonic (CM) is an electric response dominated by OHC receptor potentials from the basal turn of the cochlea and provides a measure of transducer function in OHCs; in an active ear, CM waveforms show post-stimulus ringing (i.e. a cochlear echo) whereas in a passive ear system, CM decays at the cessation of the tone burst MP:0004413 absent cochlear microphonics absence or loss of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound MP:0004414 decreased cochlear microphonics reduction of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound MP:0004415 abnormal cochlear nerve compound action potential anomaly in the combined potentials resulting from activation of the auditory division of the eighth cranial nerve; these potentials represent the summed activity of multiple cochlear afferent fibers discharging synchronously and thus assess the combined functional state of OHCs, IHCs, and their primary afferent innervation MP:0004416 absent cochlear nerve compound action potential absence of the combined potentials resulting from activation of the auditory division of the eighth cranial nerve MP:0004417 decreased cochlear nerve compound action potential reduction of the combined potentials resulting from activation of the auditory division of the eighth cranial nerve MP:0004418 small parietal bone reduced size of the paired membranous bones located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium MP:0004419 absent parietal bone absence of the paired membranous bones located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium MP:0004420 parietal bone hypoplasia decrease in the number of normal cells in normal arrangement in the parietal bone, typically resulting in decreased size MP:0004421 enlarged parietal bone increased size of the paired membranous bones located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium MP:0004422 small temporal bone reduced size of the large, irregular bone located at the base and side of the skull MP:0004423 abnormal temporal bone squamous part morphology any structural anomaly of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault MP:0004424 temporal bone hypoplasia decrease in the number of normal cells in normal arrangement in the temporal bone, typically resulting in decreased size MP:0004425 abnormal otolith organ morphology any structural anomaly in the utricle and saccule of the inner ear which possess otoliths and respond to linear acceleration and deceleration, including gravity MP:0004426 abnormal cochlear labyrinth morphology any structural anomaly in the portion of the membranous labyrinth concerned with the sense of hearing (vs. the vestibular labyrinth, which is concerned with the sense of equilibration) and innervated by the cochlear nerve; it is located within the cochlea of the bony labyrinth, and consists of the cochlear duct, which contains the spiral organ MP:0004427 abnormal vestibular labyrinth morphology any structural anomaly in the portion of the membranous labyrinth concerned with the sense of equilibration (vs. the cochlear labyrinth, which is concerned with the sense of hearing) and innervated by the vestibular nerve; it is located within the semicircular canals and vestibule of the bony labyrinth, and consists of the utricle, saccule, and the semicircular, utriculosaccular, and endolymphatic ducts MP:0004428 abnormal type I vestibular cell any structural anomaly in the flask-shaped sensory cells of the maculae and cristae of the vestibular labyrinth of the inner ear, which are normally enclosed in calyx endings of afferent neurons; afferent and efferent nerve fibers of the vestibular nerve synapse with them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the otolithic membrane of the maculae or the cupula of the cristae MP:0004429 abnormal type II vestibular cells any structural anomaly in the cylindrical sensory cells of the maculae and cristae of the vestibular labyrinth of the inner ear which are normally contacted by bouton endings of afferent and efferent neurons; afferent and efferent nerve fibers of the vestibular nerve synapse with them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the otolithic membrane of the maculae or the cupula of the cristae MP:0004430 abnormal Claudius cell morphology any structural anomaly in the columnar cells located on the floor of the ductus cochlearis external to the spiral organ (also known as the organ of Corti) MP:0004431 abnormal hair cell mechanoelectric transduction anomalous conversion of mechanical energy into electric(al) energy by sensory cells, such as auditory and vestibular hair cells, required for auditory sensation MP:0004432 abnormal cochlear hair cell physiology any functional anomaly in processes pertinent to the integrated function of cochlear hair cells i.e. the sensory cells in the spiral organ which are in synaptic contact with sensory as well as efferent fibers of the cochlear (auditory) nerve MP:0004433 abnormal cochlear inner hair cell physiology any functional anomaly in processes pertinent to the function of cochlear IHCs which constitute the true sensory cell type sending impulses via the cochlear (auditory) nerve MP:0004434 abnormal cochlear outer hair cell physiology any functional anomaly in processes pertinent to the function of cochlear OHCs which are known to enhance the performance of the cochlea, both qualitatively (increased selectivity) and quantitatively (increased sensitivity); in addition to the mechanoelectric transduction required for auditory sensation, OHCs also perform electromechanical transduction, whereby transmembrane voltage drives rapid changes in the length and stiffness of OHCs at audio frequencies in vitro (electromotility) MP:0004435 abnormal cochlear outer hair cell electromotility anomalous motility of the cochlear OHCs in response to electrical stimulation; normally, the motile response (i.e. rapid change in length and stiffness of OHCs) is closely coupled to the changing transduction current and provides a region-specific amplification in the movement of the spiral organ that enhances transduction at the IHCs in that specific region of the cochlear spiral, increasing both sensitivity and specificity; electromotility is believed to arise through voltage-gated conformational changes in motor protein (prestin) or proteins located in the lateral wall of the OHC MP:0004436 absent cochlear outer hair cell electromotility absence or loss of motility of the cochlear OHCs in response to electrical stimulation MP:0004437 decreased cochlear outer hair cell electromotility reduced motility of the cochlear OHCs in response to electrical stimulation MP:0004438 abnormal vestibular hair cell physiology anomalies in processes pertinent to the integrated function of the sensory epithelium of the maculae and cristae in the membranous labyrinth of the inner ear MP:0004439 absent Meckel's cartilage absence of this cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible; gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments MP:0004440 absent occipital bone absence of the bone at the lower, posterior part of the skull MP:0004441 small occipital bone reduced size of the bone at the lower, posterior part of the skull MP:0004442 occipital bone foramen presence of a hole in the bone at the lower, posterior part of the skull MP:0004443 absent supraoccipital bone absence of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young MP:0004444 small supraoccipital bone reduced size of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young MP:0004445 small exoccipital bone reduced size of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young MP:0004446 split exoccipital bone the appearance of an abnormal division in the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young MP:0004447 small basioccipital bone reduced size of the bone in the base of the cranium, frequently forming a part of the occipital in the adult, but usually distinct in the young MP:0004448 abnormal presphenoid bone morphology any structural anomaly of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult MP:0004449 absent presphenoid bone absence of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult MP:0004450 presphenoid bone hypoplasia decrease in the number of normal cells in normal arrangement in the presphenoid bone, typically resulting in decreased size MP:0004451 short presphenoid bone reduced length of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult MP:0004452 abnormal pterygoid process morphology any structural anomaly of the process projecting downward from either side of the sphenoid bone, in vertebrates divided into two plates, an inner and an outer (sometimes called the lateral and medial); the posterior nares pass through the space, called the pterygoid fossa, between the processes MP:0004453 abnormal pterygoid bone morphology any structural anomaly of the bone region which corresponds to the inner plate of the pterygoid process of the mammalian skull MP:0004454 absent pterygoid process absence of the process projecting downward from either side of the sphenoid bone, in vertebrates divided into two plates, an inner and an outer (sometimes called the lateral and medial); the posterior nares pass through the space, called the pterygoid fossa, between the processes MP:0004455 pterygoid bone hypoplasia decrease in the number of normal cells in normal arrangement in the pterygoid bone, typically resulting in decreased size MP:0004456 small pterygoid bone reduced size of the bone region which corresponds to the inner plate of the pterygoid process of the mammalian skull MP:0004457 abnormal orbitosphenoid bone morphology any structural anomaly of the bone that is situated in the orbit on either side of the presphenoid; it generally forms a part of the sphenoid in the adult, and may be independent in the young MP:0004458 absent alisphenoid bone absence of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young MP:0004459 small alisphenoid bone reduced size of either of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young MP:0004460 alisphenoid bone hypoplasia decrease in the number of normal cells in normal arrangement in the alisphenoid bone, typically resulting in decreased size MP:0004461 basisphenoid bone hypoplasia decrease in the number of normal cells in normal arrangement in the basisphenoid bone, typically resulting in decreased size MP:0004462 small basisphenoid bone reduced size of part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone MP:0004463 basisphenoid bone foramen the presence of one or more holes in part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone MP:0004464 absent strial basal cell tight junctions absence of tight junctions from the basal cell layer of stria vascularis, resulting in destruction of the paracellular barrier between basal cells; loss of basal cell tight junctions renders the intrastrial space open to perilymph and abolishes its electrical isolation MP:0004465 degeneration of organ of Corti supporting cells degeneration or loss of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti MP:0004466 short cochlear outer hair cells reduced height of the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve MP:0004467 absent zygomatic bone absence of the quadrilateral bone that forms the prominence of the cheek MP:0004468 small zygomatic bone reduced size of the quadrilateral bone that forms the prominence of the cheek MP:0004469 abnormal zygomatic arch morphology any structural anomaly of the bony arch in vertebrates that extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone MP:0004470 small nasal bone reduced size of either of two rectangular bone plates forming the bridge of the nose MP:0004471 short nasal bone reduced length of either of two rectangular bone plates forming the bridge of the nose MP:0004472 broad nasal bone increased width of either of two rectangular bone plates forming the bridge of the nose MP:0004473 absent nasal bone absence of either of two rectangular bone plates forming the bridge of the nose MP:0004474 enlarged nasal bone increased size of either of two rectangular bone plates forming the bridge of the nose MP:0004475 palatine bone hypoplasia decrease in the number of normal cells in normal arrangement in the palatine bone, typically resulting in decreased size MP:0004476 absent palatine bone absence of either of two irregularly L-shaped bones located posterior to the maxilla that in part forms the back of the hard palate, part of the nasal cavity and part of the floor of the orbits MP:0004477 turbinate hypoplasia decrease in the number of normal cells in normal arrangement in the turbinate, typically resulting in decreased size MP:0004478 increased testicular teratoma incidence greater than the expected number of a usually benign tumor found in the testis that is the result of an anomaly of germ cell development, occurring in a specific population in a given time period; teratomas typically contains a diversity of tissues often representing all organ systems such as hair, teeth, bone, thyroid, or nerve tissue MP:0004479 abnormal oval window morphology any structural anomaly of the oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes MP:0004480 abnormal round window morphology any structural anomaly of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; it serves to regulate fluid pressure in the inner ear MP:0004481 abnormal conjunctival epithelium morphology any structural anomaly of the conjunctival layer of epithelial cells covering inner surface of the eyelid and the front of the eyeball except over the cornea MP:0004482 abnormal interdental cell morphology any structural anomaly of the long, spindle-shaped cells arranged in parallel rows, oriented with their vertical axis perpendicular to the luminal surface of the spiral limbus; they secrete potassium ions into the endolymph and secrete the tectorial membrane MP:0004483 absent interdental cells absence of the long, spindle-shaped cells arranged in parallel rows, oriented with their vertical axis perpendicular to the luminal surface of the spiral limbus; they secrete potassium ions into the endolymph and secrete the tectorial membrane MP:0004484 abnormal response of heart to induced stress change in the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding MP:0004485 increased response of heart to induced stress increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding MP:0004486 decreased response of heart to induced stress decrease in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding MP:0004487 type I spiral ligament fibrocyte degeneration degeneration or loss of type I spiral ligament fibrocytes which occupy the region beneath the stria vascularis MP:0004488 type II spiral ligament fibrocyte degeneration degeneration or loss of type II spiral ligament fibrocytes found in the suprastrial zone and the central area of the spiral ligament beneath the spiral prominence MP:0004489 type III spiral ligament fibrocyte degeneration degeneration or loss of type III spiral ligament fibrocytes which form a cell layer attached to the otic capsule MP:0004490 type IV spiral ligament fibrocyte degeneration degeneration or loss of type IV spiral ligament fibrocytes found in the triangular space inferior to the basilar crest MP:0004491 abnormal orientation of outer hair cell stereociliary bundles misorientation or rotation of outer hair cell (OHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium MP:0004492 abnormal orientation of inner hair cell stereociliary bundles misorientation or rotation of inner hair cell (IHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium MP:0004493 dilated cochlea the luminal space of the cochlea is increased in volume or area, usually with an increase in contained fluid MP:0004494 abnormal synaptic glutamate release aberrant secretion across synapses of the major excitatory neurotransmitter of the central nervous system (CNS), which acts through both ligand gated ion channels (ionotropic receptors) and G protein-coupled (metabotropic) receptors MP:0004495 decreased synaptic glutamate release reduced secretion across synapses of the major excitatory neurotransmitter of the central nervous system (CNS), which acts through both ligand gated ion channels (ionotropic receptors) and G protein-coupled (metabotropic) receptors MP:0004496 abnormal organ of Corti supporting cell number abnormal number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti MP:0004497 decreased organ of Corti supporting cell number decreased number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti MP:0004498 increased organ of Corti supporting cell number increased number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti MP:0004499 increased incidence of tumors by chemical induction higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens MP:0004500 increased incidence of tumors by ionizing radiation induction higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays MP:0004501 increased incidence of tumors by UV-induction higher than normal frequency of tumor incidence induced by exposure to ultraviolet light MP:0004502 decreased incidence of tumors by chemical induction lower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens MP:0004503 decreased incidence of tumors by ionizing radiation induction lower than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays MP:0004504 decreased incidence of tumors by UV induction lower than normal frequency of tumor incidence induced by exposure to ultraviolet light MP:0004505 decreased renal glomerulus number reduced number of the capillary loops of the kidney that normally function as a filtration unit MP:0004506 abnormal pubis morphology any structural anomaly of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis MP:0004507 abnormal ischium morphology any structural anomaly of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis MP:0004508 abnormal pectoral girdle bone morphology any structural anomaly of the bones of the shoulder by which the limbs attach to the axial skeleton MP:0004509 abnormal pelvic girdle bone morphology any structural anomaly of the bones of the pelvis by which the limbs attach to the axial skeleton MP:0004510 myositis inflammation of muscle; local accumulation of fluid, plasma proteins, and leukocytes in muscle MP:0004512 anosmia loss of the sense of smell MP:0004513 avnosmia loss of the ability to detect pheromones through the vomeronasal system MP:0004514 dystocia slow or difficult delivery of offspring and/or placenta MP:0004515 abnormal vestibular hair cell stereociliary bundle morphology any structural anomaly or disruption of the typical staircase-like arrangement of the mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of vestibular hair cells of the utricle and saccule MP:0004516 fused vestibular hair cell stereocilia coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on vestibular hair cells, often resulting in giant stereocilia MP:0004517 decreased vestibular hair cell stereocilia number decreased number of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on vestibular hair cells in a staircase-like pattern MP:0004518 absent vestibular hair cell stereocilia complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern MP:0004519 thin vestibular hair cell stereocilia reduced thickness of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern MP:0004520 short vestibular hair cell stereocilia reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern MP:0004521 abnormal cochlear hair cell stereociliary bundle morphology any structural anomaly or disruption of the typical pattern of arrangement of mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of cochlear inner and outer hair cells MP:0004522 abnormal orientation of cochlear hair cell stereociliary bundles misorientation or rotation of inner and/or outer hair cell stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium MP:0004523 decreased cochlear hair cell stereocilia number decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner and outer hair cells MP:0004524 short cochlear hair cell stereocilia reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells MP:0004525 thin cochlear hair cell stereocilia reduced thickness of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells MP:0004526 absent cochlear hair cell stereocilia complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells MP:0004527 abnormal outer hair cell stereociliary bundle morphology any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia MP:0004528 fused outer hair cell stereocilia coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear outer hair cells, often resulting in giant stereocilia MP:0004529 decreased outer hair cell stereocilia number decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear outer hair cells MP:0004530 absent outer hair cell stereocilia complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells MP:0004531 short outer hair cell stereocilia reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells MP:0004532 abnormal inner hair cell stereociliary bundle morphology any structural anomaly or disruption of the typically linear or U-shaped pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear IHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia MP:0004533 fused inner hair cell stereocilia coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner hair cells, often resulting in giant stereocilia MP:0004534 decreased inner hair cell stereocilia number decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner hair cells MP:0004535 absent inner hair cell stereocilia complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner hair cells MP:0004536 short inner hair cell stereocilia reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner hair cells MP:0004537 abnormal palatine bone horizontal plate morphology any structural anomaly of the bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate MP:0004538 abnormal maxillary shelf morphology any structural anomaly of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate MP:0004539 absent maxilla missing the upper bony framework of the mouth where the superior teeth are held MP:0004540 small maxilla reduced size of the upper bony framework of the mouth where the superior teeth are held MP:0004541 absent auditory tube absence of the tube connecting the tympanic cavity and the nasopharynx MP:0004542 impaired acrosome reaction reduced ability or inability to execute the cellular exocytosis of a single, anterior secretory granule following a sperm's attachment to the zona pellucida surrounding an oocyte MP:0004543 abnormal sperm physiology anomaly in the normal function of spermatozoa MP:0004544 absent esophagus absence of the part of the digestive canal through which food passes from the pharynx to the stomach MP:0004545 enlarged esophagus increased size of the part of the digestive canal through which food passes from the pharynx to the stomach MP:0004546 esophagus hyperplasia increase in the number of normal cells in normal arrangement in the esophagus, typically resulting in increased size MP:0004547 esophageal ulcer a lesion on the mucosal surface of the esophagus, usually produced by the sloughing of inflammatory necrotic tissue MP:0004548 dilated esophagus an expansion in the lumen volume of the part of the digestive canal through which food passes from the pharynx to the stomach MP:0004549 small trachea reduced size of the tube descending from the larynx and branching into the right and left main bronchi MP:0004550 short trachea reduced length of the tube descending from the larynx and branching into the right and left main bronchi MP:0004551 decreased tracheal cartilage ring number less than the expected number of the incomplete C- or U-shaped rings of hyaline cartilage that support the trachea and prevent it from collapsing MP:0004552 fused tracheal cartilage rings fusion of some or all of the incomplete C- or U-shaped rings of hyaline cartilage that support the trachea and prevent it from collapsing MP:0004553 absent tracheal cartilage rings absence of the incomplete C- or U-shaped rings of hyaline cartilage that support the trachea and prevent it from collapsing MP:0004554 small pharynx reduced size of the passage between the mouth and the posterior nares and the larynx and esophagus MP:0004555 pharynx hypoplasia decrease in the number of normal cells in normal arrangement in the pharynx, typically resulting in decreased size MP:0004556 enlarged allantois increased size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels MP:0004557 dilated allantois an expansion in the volume of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels, as by stretching or distention MP:0004558 delayed allantois development late onset of development of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels MP:0004559 small allantois reduced size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels MP:0004560 abnormal chorionic plate morphology any structural anomaly of the portion of the chorion from which chorionic villi develop that establish a connection with the endometrium, giving rise to the fetal portion of the mature placenta MP:0004561 absent facial nerve absence of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue MP:0004562 abnormal inner hair cell synaptic ribbon morphology any structural anomaly in the presynaptic active zone of mature cochlear IHCs which usually contain a single synaptic ribbon, i.e. a submicrometer, electron-dense structure tethering synaptic vesicles; each spiral ganglion neuron receives input from only one IHC synapse MP:0004563 absent active-zone-anchored inner hair cell synaptic ribbon absence or loss of the usually single synaptic ribbon, a characteristic osmiophilic, electron-dense structure to which synaptic vesicles are tethered at the active zone of the cochlear inner hair cell afferent synapse MP:0004564 increased myocardial fiber size increased size of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart MP:0004565 decreased myocardial fiber size decreased size of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart MP:0004566 myocardial fiber degeneration deterioration or destruction of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart MP:0004567 decreased myocardial fiber number decreased number of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart MP:0004568 fusion of glossopharyngeal and vagus nerve union of the ninth and tenth cranial nerves into a single structure MP:0004569 glossopharyngeal nerve hypoplasia decrease in the number of normal cells in normal arrangement in the glossopharyngeal nerve, typically resulting in decreased size MP:0004570 absent glossopharyngeal nerve absence of the sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue; the branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion MP:0004571 absent vagus nerve absence of the autonomic, sensory and motor axons of the tenth cranial nerve; it is primarily sensory but also has visceromotor components; it originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components, and also controls some motor functions such as speech; the sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis MP:0004572 fusion of basioccipital and basisphenoid bone union of the basioccipital and basisphenoid bones into one structure, when this fusion does not normally occur (such as in a species where these bones normally persist as separate entities) MP:0004573 absent limb buds missing the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs MP:0004574 broad limb buds increased anterior-posterior width of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs MP:0004575 small limb buds reduced size of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs MP:0004576 abnormal embryonic autopod plate morphology any structural anomaly of transient developing limb structure that forms by expansion of the distal end of the limb paddle and will give rise to the pedal appendages (e.g. hand, foot, paw) MP:0004577 abnormal cochlear hair cell inter-stereocilial links morphology any structural anomaly in the morphologically and biochemically distinct link types that extend between the stereocilia of cochlear hair bundles; link types can be distinguished by their relative sensitivities to treatment with calcium chelators and the protease subtilisin; in the mature mouse cochlea, tip links and horizontal top connectors are the only inter-stereocilial links associated with the hair bundle; ankle links and transient lateral links are both prominent features of developing auditory hair bundles MP:0004578 abnormal cochlear hair bundle tip links morphology any structural anomaly in single, three-stranded interrow filaments that extend obliquely from the tip of one stereocilium to the lateral side of an adjacent taller stereocilium; in the mouse, tip links are already detectable prenatally and persist throughout life; tips links are thought to gate the mechanotransducer channel, are lost from the cell surface after exposure to either calcium chelator BAPTA or lanthanum, and resist degradation by the protease subtilisin MP:0004579 abnormal cochlear hair bundle horizontal top connectors morphology any structural anomaly in the inter-stereocilial links that connect the top of a shorter stereocilium to an adjacent longer stereocilium at a short distance below the tip links; the appearance of horizontal top connectors, which persist into adulthood, occurs concomitant with this loss of ankle links; top connectors are essentially unaffected by treatment with subtilisin and EGTA MP:0004580 abnormal cochlear hair bundle transient lateral links morphology any structural anomaly in the fine lateral links that interconnect stereocilia at prenatal stages; transient lateral links diminish at early postnatal stages when ankle links appear at the base of stereocilia, and are essentially unaffected by treatment with subtilisin and EGTA MP:0004581 abnormal cochlear hair bundle ankle links morphology any structural anomaly in the long, single-stranded filaments that form a dense web or mesh around the base of cochlear hair bundles just above the region in which the stereocilia begin to taper down; in the mouse, ankle links are only a transient feature of the developing cochlear hair bundles, present predominantly from P2 though P9, but are absent by P12; ankle links are disrupted by treatment of hair cells with EGTA and subtilisin but not by La3+ and elastase MP:0004582 absent cochlear hair bundle ankle links absence of the long, single-stranded filaments that form a dense web or mesh around the base of cochlear hair bundles just above the region in which the stereocilia begin to taper down MP:0004583 abnormal vestibular hair bundle inter-stereocilial links any structural anomaly in the morphologically and biochemically distinct link types that extend between the stereocilia of vestibular hair bundles MP:0004584 abnormal vestibular hair bundle shaft connectors any structural anomaly in the links that connect the shafts of neighboring stereocilia in vestibular hair bundles; each shaft connector is composed of a ruthenium red-reactive, electron-dense particle that is connected to the plasma membrane by several fine strands of variable length MP:0004585 absent vestibular hair bundle shaft connectors absence of the inter-stereocilial links that connect the shafts of neighboring stereocilia in vestibular hair bundles MP:0004586 pillar cell degeneration degeneration or loss of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti MP:0004587 decreased cellular sensitivity to X-ray irradiation decreased incidence of cell death following exposure to X-ray irradiation MP:0004588 abnormal vestibular hair cell development atypical initial production, differentiation, migration or maturation of hair cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the inner ear MP:0004589 abnormal cochlear hair cell development atypical initial production, differentiation, migration or maturation of the sensory epithelial cells of the cochlea MP:0004590 absent Deiters cells absence of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities MP:0004591 enlarged tectorial membrane increased size of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells MP:0004592 small mandible reduced size of the lower bony framework of the mouth where the inferior teeth are held MP:0004593 long mandible increased length of the lower bony framework of the mouth where the inferior teeth are held MP:0004594 abnormal mandibular coronoid process morphology any structural anomaly of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion); includes the attachment site to the temporal muscle MP:0004595 abnormal mandibular condyloid process morphology any structural anomaly of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint MP:0004596 abnormal mandibular angle morphology any structural anomaly of the portion of the mandible where the body of the mandible (horizontal portion) and the rami (perpendicular portions) meet; these normally unite nearly at right angles MP:0004597 increased susceptibility to noise-induced hearing loss greater than normal reduction in hearing sensitivity following exposure to acute noise that is injurious to the cochlea MP:0004598 abnormal cochlear basement membrane morphology any structural anomaly in the continuous basement membrane found within the membranous labyrinth of the cochlea, known to extend from the limbus, down to the inner sulcus, across the basilar membrane, up to the external sulcus to the spiral prominence and radiating into the spiral ligament ensheathing the root cell processes MP:0004599 abnormal vertebral arch morphology any structural anomaly of the dorsal bony and/or cartilaginous part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process) MP:0004600 abnormal vertebral transverse process morphology any structural anomaly of the bony protrusions on either side of the arch of a vertebrae at the point where the lamina joins the pedicle, between the superior and inferior articular processes; muscles and ligaments attach to these processes MP:0004601 abnormal vertebral spinous process morphology any structural anomaly of the dorsal projection of the vertebral arch that projects backward and downward from the junction of the laminae, and serves for the attachment of muscles and ligaments MP:0004602 abnormal vertebral articular process morphology any structural anomaly of the bilateral flat projections that arise from the junctions of the pedicles and laminae MP:0004603 absent vertebral arch loss of the dorsal part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process) MP:0004604 abnormal vertebral pedicle morphology any structural anomaly of the two short, thick processes, which project backward, one on either side, from the upper part of the body to the laminae MP:0004605 abnormal vertebral lamina morphology any structural anomaly of two broad plates directed dorsomedially from the pedicles; these fuse at the dorsal midline, and complete the dorsal wall of the vertebral foramen MP:0004606 absent vertebral spinous process missing the dorsal projection of the vertebral arch that projects backward and downward from the junction of the laminae, and serves for the attachment of muscles and ligaments MP:0004607 abnormal cervical atlas morphology any structural anomaly of the first (topmost, C1) cervical vertebra which supports the globe of the head MP:0004608 abnormal cervical axis morphology any structural anomaly of the second cervical vertebra (C2) which forms the pivot upon which the first cervical (atlas, C1) vertebra rotates MP:0004609 vertebral fusion the union of one or more vertebrae into a single structure MP:0004610 small vertebrae reduced size of the bony segments of the spinal column MP:0004611 increased susceptibility to ototoxicity-induced hearing loss greater than normal reduction in hearing sensitivity following exposure to an ototoxic compound, such as aminoglycoside-induced hearing loss mediated via a glutamate excitotoxic process MP:0004612 fusion of vertebral bodies improper union of the main cylindrical portion of adjacent vertebra ventral to the vertebral canal MP:0004613 fusion of vertebral arches improper union of the dorsal part of adjacent vertebra MP:0004614 caudal vertebral transformation homeotic transformation of any caudal vertebrae to adopt the fate of another vertebrae MP:0004615 cervical vertebral transformation homeotic transformation of any cervical vertebrae to adopt the fate of another vertebrae MP:0004616 lumbar vertebral transformation homeotic transformation of any lumbar vertebrae to adopt the fate of another vertebrae MP:0004617 sacral vertebral transformation homeotic transformation of any sacral vertebrae to adopt the fate of another vertebrae MP:0004618 thoracic vertebral transformation homeotic transformation of any thoracic vertebrae to adopt the fate of another vertebrae MP:0004619 caudal vertebral fusion the union of one or more caudal vertebrae into a single structure in species where this does not normally occur MP:0004620 cervical vertebral fusion the union of one or more cervical vertebrae into a single structure MP:0004621 lumbar vertebral fusion the union of one or more lumbar vertebrae into a single structure MP:0004622 sacral vertebral fusion the union of one or more sacral vertebrae into a single structure in species where this does not normally occur MP:0004623 thoracic vertebral fusion the union of one or more thoracic vertebrae into a single structure MP:0004624 abnormal thoracic cage morphology any structural anomaly of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum MP:0004625 abnormal rib joint morphology any anomaly in the normal joining of the ribs to the vertebral column or to the sternum MP:0004626 vertebral compression appearance of vertebrae that are flattened laterally along the whole length such that they appear pressed together and take up less rostrocaudal space MP:0004627 abnormal trochanter morphology any structural anomaly of the bony prominences near the upper extremity of the femur; there are two in human (greater and lesser trochanters) and three in many other mammalian species (greater, lesser and third); these normally serve as attachment points for hip and thigh muscles MP:0004628 Deiters cell degeneration degeneration or loss of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities MP:0004629 abnormal spiral modiolar artery morphology any structural anomaly of the artery which parallels the spiral ganglion in the root of the spiral lamina of the modiolus, serving the ganglion and the cochlear duct and its contents MP:0004630 spiral modiolar artery stenosis abnormal narrowing or constriction of the artery which parallels the spiral ganglion in the root of the spiral lamina of the modiolus and serves the ganglion and the cochlear duct and its contents MP:0004631 abnormal auditory cortex morphology any structural anomaly in the region of the cerebral cortex that receives the auditory radiation from the medial geniculate body, a thalamic cell group receiving auditory input from the cochlear nuclei in the rhombencephalon and is responsible for processing of auditory (sound) information MP:0004632 abnormal cochlear OHC efferent innervation pattern any changes in the morphology or number of efferent terminals, occurring as clusters, in the cochlear OHC region; normally, medial olivocochlear neurons, which are primarily found in rostral and ventral periolivary regions, project mainly to the contralateral cochlea, and terminate directly on OHCs MP:0004633 abnormal cochlear IHC efferent innervation pattern any changes in the morphology of the normally dense plexus of efferent terminals that contact radial fibers of the spiral ganglion below cochlear IHCs or of the sparser plexus of terminals positioned around IHC somata; normally, lateral olivocochlear neurons, which are found in and/or around the lateral superior olive, project mainly to the ipsilateral cochlea and terminate mostly on dendritic fibers below IHCs MP:0004634 short metacarpal bones reduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges MP:0004635 short metatarsal bones reduced length of the five bones of the hindpaws that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges MP:0004636 decreased metacarpal bone number reduced number of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges MP:0004637 metacarpal bone hypoplasia decrease in the number of normal cells in normal arrangement in the metacarpal bones, typically resulting in decreased size MP:0004638 elongated metacarpal bones increased length of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges MP:0004639 fused metacarpal bones improper union of one or more of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges MP:0004640 decreased metatarsal bone number reduced number of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges MP:0004641 elongated metatarsal bones increased length of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges MP:0004642 fused metatarsal bones improper union of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges MP:0004643 abnormal vertebrae number altered number of the bony segments of the spinal column MP:0004644 increased vertebrae number an increase over the normal number of the bony segments of the spinal column MP:0004645 decreased vertebrae number a reduction from the normal number of the bony segments of the spinal column MP:0004646 decreased cervical vertebrae number reduced number of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull MP:0004647 decreased lumbar vertebrae number reduced number of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae MP:0004648 decreased thoracic vertebrae number reduced number of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae MP:0004649 decreased sacral vertebrae number reduced number of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae MP:0004650 increased lumbar vertebrae number increased number of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae MP:0004651 increased thoracic vertebrae number increased number of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae MP:0004652 small caudal vertebrae reduced size of the bony segments of the coccyx or tail MP:0004653 absent caudal vertebrae absence of all of the bony segments of the coccyx or tail MP:0004654 absent lumbar vertebrae absence of all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae MP:0004655 absent thoracic vertebrae absence of all of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae MP:0004656 absent sacral vertebrae absence of all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae MP:0004657 small sacral vertebrae reduced size of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae MP:0004658 abnormal ventral tubercle of atlas morphology any structural anomaly of the conical ventral projection on the arch of the atlas MP:0004659 abnormal odontoid process morphology any structural anomaly of the large protuberance that projects upward from the cervical axis, around which the cervical atlas rotates MP:0004660 absent thyroid follicular cells absence of the thyroxine-producing follicular cells derived from the thyroid diverticulum which evaginates from the endodermal epithelium of the embryonic pharyngeal floor MP:0004661 absent thyroid parafollicular C-cells absence of the neuroepithelial secretory cells that occur singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid; these cells secrete calcitonin, 5-hydroxytryptamine and dopamine MP:0004662 abnormal thyroid diverticulum morphology any structural anomaly in the endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor MP:0004663 athyroidism congenital absence of the thyroid gland or suppression or absence of its hormonal secretion MP:0004664 delayed inner ear development slowed progression to structurally mature components of the labyrinth, including the semicircular canals, vestibule and cochlea MP:0004665 abnormal stapedial artery morphology any structural anomaly in the small artery that passes through the ring of the stapes; while the stapedial artery is a temporary artery thought to disappear at late embryonic stage in humans, the mouse stapedial artery is complete by E13 and persists into adulthood MP:0004666 absent stapedial artery absence of the small artery that passes through the ring of the stapes MP:0004667 vertebral body hypoplasia decrease in the number of normal cells in normal arrangement in the vertebral body, typically resulting in decreased size MP:0004668 absent vertebral body absence of the main cylindrical portion of the vertebra ventral to the vertebral canal MP:0004669 enlarged vertebral body increased size of the main cylindrical portion of the vertebra ventral to the vertebral canal MP:0004670 small vertebral body decreased size of the main cylindrical portion of the vertebra ventral to the vertebral canal MP:0004671 long ribs increased length of the bones forming the bony wall of the chest MP:0004672 short ribs reduced length of the bones forming the bony wall of the chest MP:0004673 splayed ribs any deviation from the normal curvature of the ribs such that the ribs are turned outward MP:0004674 thin ribs a more slender appearance of the bones forming the bony wall of the chest MP:0004675 rib fractures a crack or break in the bones forming the bony wall of the chest MP:0004676 wide ribs an increase in the width of the bones forming the bony wall of the chest MP:0004677 truncated ribs ribs that terminate abruptly as if having an end or point cut off MP:0004678 split xiphoid process the appearance of an abnormal division of the caudal tip of the sternum MP:0004679 xiphoid process foramen the appearance of a hole or holes in the caudal tip of the sternum MP:0004680 small xiphoid process reduced size of the caudal tip of the sternum MP:0004681 intervertebral disk hypoplasia decrease in the number of normal cells in normal arrangement in the intervertebral disk, typically resulting in decreased size MP:0004682 small intervertebral disk reduced size of the cartilaginous and gelatinous structure found between vertebrae MP:0004683 absent intervertebral disk absence of the cartilaginous and gelatinous structure found between vertebrae MP:0004684 intervertebral disk degeneration retrogressive pathological change of the cartilaginous and gelatinous structure found between vertebrae MP:0004685 calcified intervertebral disk pathologic deposition of calcium salts in one or more intervertebral disks MP:0004686 decreased length of long bones reduced end-to-end length of the several elongated bones of the extremities MP:0004687 split vertebrae any vertebrae or vertebral section that is cleft into two parts MP:0004688 absent ilium absence of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis MP:0004689 small ischium reduced size of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis MP:0004690 ischium hypoplasia decrease in the number of normal cells in normal arrangement in the ischium, typically resulting in decreased size MP:0004691 absent pubis absence of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis MP:0004692 small pubis reduced size of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis MP:0004693 pubis hypoplasia decrease in the number of normal cells in normal arrangement in the pubis, typically resulting in decreased size MP:0004694 absent patella absence of the large sesamoid bone that covers the anterior surface of the knee MP:0004695 increased length of long bones greater end-to-end length of the several elongated bones of the extremities MP:0004696 abnormal thyroid follicle morphology any structural anomaly of the small spherical vesicular components of the thyroid gland that are lined with epithelium and contain a colloid substance that both serves as a reservoir of materials for thyroid hormone production and stores thyroid hormones MP:0004697 abnormal thyroid follicular cell morphology any structural anomaly of the thyroxine-producing follicular cells derived from the thyroid diverticulum which evaginates from the endodermal epithelium of the embryonic pharyngeal floor MP:0004698 abnormal thyroid parafollicular C-cell morphology any structural anomaly of the neuroepithelial secretory cells that occur singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid; these cells secrete calcitonin, 5-hydroxytryptamine and dopamine MP:0004699 unilateral deafness bilateral asymmetry in auditory function whereby one of the two ears displays auditory thresholds indicative of intact hearing while the other ear displays thresholds reflecting auditory dysfunction MP:0004700 abnormal circulating insulin-like growth factor I level anomalous blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities MP:0004701 decreased circulating insulin-like growth factor I level reduced blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities MP:0004702 increased circulating insulin-like growth factor I level increased blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities MP:0004703 abnormal vertebral column morphology any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord MP:0004704 short vertebral column decreased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord MP:0004705 elongated vertebral body increased length of the main cylindrical portion of the vertebra ventral to the vertebral canal MP:0004706 short vertebral body reduced length of the main cylindrical portion of the vertebra ventral to the vertebral canal MP:0004707 enlarged lumbar vertebrae increased size of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae MP:0004708 short lumbar vertebrae reduced length of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae MP:0004709 cervical vertebrae degeneration retrogressive pathologic change of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull MP:0004710 small notochord reduced size of the axial fibrocellular cord in embryos around which develops the vertebral primordia MP:0004711 persistence of notochord tissue failure of notochord tissue to differentiate into the vertebral primordia during development resulting in the presence of notochord tissue at later stages than it is normally seen MP:0004712 notochord degeneration retrogressive pathologic change of the axial fibrocellular cord in embryos around which develops the vertebral primordia (prior to normal differentiation of this tissue into the vertebral column tissues) MP:0004713 split notochord the appearance of an abnormal division in the axial fibrocellular cord in embryos around which develops the vertebral primordia MP:0004714 truncated notochord notochord morphology that terminates abruptly as if having an end or point cut off MP:0004715 absent vestibulocochlear nerve absence of the composite sensory nerve innervating the receptor cells of the membranous labyrinth MP:0004716 abnormal cochlear nerve morphology any structural anomaly in the part of the vestibulocochlear nerve [CN VIII] peripheral to the cochlear root; composed of the central nerve processes of the bipolar neurons of the spiral ganglion, which have their peripheral processes on the four rows of neuroepithelial cells (hair cells) of the spiral organ MP:0004717 absent cochlear nerve absence of the part of the vestibulocochlear nerve [CN VIII] that is peripheral to the cochlear root MP:0004718 abnormal vestibular nerve morphology any structural anomaly in the part of the vestibulocochlear nerve [CN VIII] peripheral to the vestibular root; it is composed of the central processes of bipolar neurons that have the terminals of their peripheral processes on the hair cells in the ampullae of the semicircular ducts and the maculae of the saccule and utricle, and cell bodies of the vestibular ganglion MP:0004719 absent vestibular nerve absence of the part of the vestibulocochlear nerve [CN VIII] that is peripheral to the vestibular root MP:0004720 abnormal platelet morphology any structural anomaly of blood plasma cells derived from megakaryocytes, which function to promote blood clotting MP:0004721 abnormal platelet dense granule morphology any structural anomaly of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin MP:0004722 abnormal platelet dense granule number altered number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin MP:0004723 abnormal platelet serotonin level anomaly in the amount in platelets of serotonin, a biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity MP:0004724 increased platelet serotonin level greater than normal amount in platelets of serotonin, a biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity MP:0004725 decreased platelet serotonin level reduced amount in platelets of serotonin, a biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity MP:0004726 abnormal nasal capsule morphology any structural anomaly in the cartilage around the developing nasal cavity of the embryo MP:0004727 absent epididymis absence of the elongated structure connected to the posterior surface of the testis, consisting of the head, body, and tail, which turns sharply on itself to become the ductus deferens (vas deferens) MP:0004728 abnormal efferent ductules of testis morphology any structural anomaly in the small seminal ducts that lead from the testis to the head of the epididymis MP:0004729 absent efferent ductules of testis absence of the small seminal ducts that lead from the testis to the head of the epididymis MP:0004730 abnormal circulating gastrin level anomalous concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters MP:0004731 increased circulating gastrin level greater concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters MP:0004732 decreased circulating gastrin level reduced concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters MP:0004733 abnormal thoracic cavity morphology any structural anomaly of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway MP:0004734 small thoracic cavity reduced size of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway MP:0004735 enlarged thoracic cavity increased size of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway MP:0004736 abnormal distortion product otoacoustic emission any abnormality in the sound produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies; this measurement is particularly useful in assessing the functional state of OHCs MP:0004737 absent distortion product otoacoustic emissions failure to create mechanical distortions in the inner ear when two primary tones are presented, indicating failure of outer hair cells to amplify basilar membrane motion MP:0004738 abnormal auditory brainstem response anomaly in the electrical activity generated in the ascending auditory system in response to short tone bursts; may be used to evaluate sensorineural hearing function; measurements may include the amplitude (the number of neurons firing), latency (the speed of transmission), interpeak latency (the time between peaks), interaural latency (the difference in wave V latency between ears) and threshold MP:0004739 conductive hearing loss progressive hearing loss due to lesions in the external auditory canal or middle ear MP:0004740 sensorineural hearing loss a form of progressive hearing loss due to a lesion of the auditory division of cranial nerve VIII or the inner ear MP:0004741 mixed hearing loss progressive reduction in the ability to hear resulting from a combination of conductive and sensorineural hearing loss MP:0004742 abnormal vestibular system physiology any functional anomaly of the sensory system responsible for the sense of head position and movement of the body through space; such anomalies may result in impaired balance, dizziness, poor regulation of postural muscle tone and inability to detect quick movements of the head MP:0004743 abnormal vestibular evoked myogenic potential anomaly in the biphasic response elicited by loud clicks or tone bursts recorded from the tonically contracted sternocleidomastoid muscle; normally, acoustic stimulation of the saccule gives rise to a vestibulocollic reflex, the output of which can be measured in the neck as inhibition of activity in the ipsilateral sternocleidomastoid muscle; VEMP testing provides diagnostic information about saccular and/or inferior vestibular nerve function (assessment of balance disorders) MP:0004744 reduced vestibular evoked myogenic potential reduction of the biphasic response that is elicited by loud clicks or tone bursts and recorded from the tonically contracted sternocleidomastoid muscle MP:0004745 absent vestibular evoked myogenic potential absence of the biphasic response that is elicited by loud clicks or tone bursts and recorded from the tonically contracted sternocleidomastoid muscle MP:0004746 abnormal cochlear IHC afferent innervation pattern any changes in the placement, morphology or number of afferent terminals and/or their synapses in the cochlear IHC region MP:0004747 abnormal cochlear OHC afferent innervation pattern any changes in the morphology, placement or number of afferent terminals and/or their synapses in the cochlear OHC region MP:0004748 increased susceptibility to age-related hearing loss greater than normal loss of hearing associated with advancing age, manifest as reduced ability to perceive or discriminate sounds; the pattern and age of onset vary MP:0004749 nonsyndromic hearing loss a form of progressive hearing loss that is not associated with visible abnormalities of the external ear or other signs and symptoms; the vast majority of hereditary hearing loss is nonsyndromic and can be associated with abnormalities of the middle ear and/or inner ear MP:0004750 syndromic hearing loss a form of progressive hearing loss that is usually associated with malformations of the external ear and other inherited signs and symptoms MP:0004751 increased length of allograft survival compared to controls, a greater length of time that transplanted tissue, in which the donor and recipient are genetically similar (same species) but not genetically identical, retains function and/or remains alive MP:0004752 decreased length of allograft survival compared to controls, a reduced length of time that transplanted tissue, in which the donor and recipient are genetically similar (same species) but not genetically identical, retains function and/or remains alive MP:0004753 abnormal miniature excitatory postsynaptic currents defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse MP:0004754 abnormal kidney collecting duct morphology any structural anomaly of the kidney ducts lined by simple cuboidal epithelium that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance; each cortical collecting duct joints with other ducts to make a medullary connecting duct, which eventually drains into a papillary duct, emptying urine into the renal pelvis for drainage into the ureter MP:0004755 abnormal loop of Henle morphology any structural anomaly of the section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine MP:0004756 abnormal proximal convoluted tubule morphology any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes; the most distinctive characteristic of the proximal tubule is its brush border (or striated border), not found in the distal convoluted tubule MP:0004757 abnormal distal convoluted tubule morphology any structural anomaly of the convoluted portion of the duct system of the nephron between the ascending portion of the loop of Henle and the collecting duct system in the kidney cortex; it is partly responsible for the regulation of potassium, sodium, calcium, and pH through the endocrine system MP:0004758 absent strial marginal cells absence or loss of the polarized columnar cells of epithelial origin which cover the lateral surface of the cochlear duct, secrete potassium ions and form a continuous sheet in contact with the endolymph MP:0004759 decreased mitotic index decreased number of cells in G2/M phase MP:0004760 increased mitotic index increased number of cells in G2/M phase MP:0004761 increased susceptibility to induced pancreatitis more likely than normal to develop an inflammatory response, or an increased inflammatory response in the pancreatic tissue after experimental manipulation MP:0004762 increased anti-double stranded DNA antibody level increase in the level of antibodies that recognize double stranded DNA MP:0004763 obsolete absent brainstem auditory evoked potential absence of the synchronous electrical activity generated by neurons in the ascending auditory system that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts; by varying frequency, cochlear function can be assessed throughout the hearing range; normally, ABR thresholds vary with frequency, from a sound pressure level (SPL) of 35 dB at 5.6 kHz (a relatively low frequency for a mouse) to 15 dB at 45.2 kHz (a relatively high frequency); each 20 dB corresponds to a tenfold change in amplitude MP:0004764 obsolete increased brainstem auditory evoked potential greater synchronous electrical activity generated by neurons in the ascending auditory system that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts; by varying frequency, cochlear function can be assessed throughout the hearing range; normally, ABR thresholds vary with frequency, from a sound pressure level (SPL) of 35 dB at 5.6 kHz (a relatively low frequency for a mouse) to 15 dB at 45.2 kHz (a relatively high frequency); each 20 dB corresponds to a tenfold change in amplitude; decreases in auditory thresholds required to generate a response may indicate a increased potential MP:0004765 obsolete decreased brainstem auditory evoked potential reduction in the synchronous electrical activity generated by neurons in the ascending auditory system that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts; by varying frequency, cochlear function can be assessed throughout the hearing range; normally, ABR thresholds vary with frequency, from a sound pressure level (SPL) of 35 dB at 5.6 kHz (a relatively low frequency for a mouse) to 15 dB at 45.2 kHz (a relatively high frequency); each 20 dB corresponds to a tenfold change in amplitude; increases in auditory thresholds required to generate a response may indicate a decreased potential MP:0004766 decreased susceptibility to age-related hearing loss less than normal loss of hearing associated with advancing age, manifest as reduced ability to perceive or discriminate sounds; the pattern and age of onset vary MP:0004767 increased cochlear nerve compound action potential greater combined potentials resulting from activation of the auditory division of the eighth cranial nerve MP:0004768 abnormal axonal transport any functional anomaly of the directed movement of organelles or vesicles along microtubules in nerve cell axons MP:0004769 abnormal synaptic vesicle morphology any structural anomaly of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents MP:0004770 abnormal synaptic vesicle recycling any functional anomaly in the process of the fusion of a subpopulation of synaptic vesicles with the cell membrane at the active zone, the subsequent endocytosis back from the plasma membrane, the refilling of these vesicles with neurotransmitters, and trafficking back to the active zone pool of vesicles MP:0004771 increased anti-single stranded DNA antibody level increase in the level of antibodies that recognize single stranded DNA MP:0004772 abnormal bile secretion any anomaly in the quantity or rate of bile secreted through the bile ducts in a given length of time MP:0004773 abnormal bile composition any alteration in the chemical make up of the greenish-yellow fluid secreted by the liver; normally contains bile acids and salts such as sodium glycocholate and sodium taurocholate as well as cholesterol, biliverdin and bilirubin, mucus, fat, lecithin, and cells and cellular debris MP:0004774 abnormal bile salt level anomalous concentration of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats MP:0004775 abnormal vestibular dark cell morphology any structural anomaly in the nonsensory epithelial cells located above the vestibular melanocytes and adjacent to the sensory structures in the utricle and in the ampullae at the ends of each of the semicircular canals; these cells provide and maintain the high potassium ionic environment within the vestibular labyrinth and are therefore homologous to the marginal cells of the stria vascularis; they are joined to each other by tight junctions and provide a barrier between endolymph and perilymph MP:0004776 vestibular dark cell degeneration degeneration or loss of the nonsensory epithelial cells that lie adjacent to the sensory structures in the utricle and in the ampullae at the ends of each of the semicircular canals MP:0004777 abnormal phospholipid level anomalous concentration of the fat derivatives in which one fatty acid has been replaced by a phosphate group MP:0004778 increased macrophage derived foam cell number greater than normal number of a type of macrophage containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions MP:0004780 abnormal surfactant secretion anomaly in the production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli MP:0004781 abnormal surfactant composition anomaly in the chemical constituents of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli MP:0004782 abnormal surfactant physiology anomaly in the production, composition or function of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli MP:0004783 abnormal cardinal vein morphology any structural anomaly of any of the four veins in the developing vertebrate embryo which run along each side of the vertebral column MP:0004784 abnormal anterior cardinal vein morphology any structural anomaly of the two paired veins draining the cephalic part of the body MP:0004785 abnormal posterior cardinal vein morphology any structural anomaly of the two paired veins draining the caudal part of the body MP:0004786 abnormal common cardinal vein morphology any structural anomaly of the anastomosis of the anterior and posterior cardinal veins that returns blood to the developing heart MP:0004787 abnormal dorsal aorta morphology any structural anomaly of the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation MP:0004788 abnormal auditory cortex tonotopy any abnormality in the spatial arrangement of structures that subserve various frequencies in the region of the cerebral cortex that receives the auditory radiation from the medial geniculate body MP:0004789 increased bile salt level increased concentration of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats MP:0004790 absent upper incisors absence of the upper pair of long teeth that are the most anterior and prominent in the jaw MP:0004791 absent lower incisors missing the lower pair of long teeth that are the most anterior and prominent in the jaw MP:0004792 abnormal synaptic vesicle number anomaly in the number of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents MP:0004793 abnormal synaptic vesicle clustering any functional anomaly in the process of accumulation of synaptic vesicles at the active zone of presynaptic membranes MP:0004794 increased anti-nuclear antigen antibody level elevated level of antibodies to nuclear antigens present in the sera MP:0004795 decreased anti-nuclear antigen antibody level reduced level of antibodies to nuclear antigens present in the sera MP:0004796 increased anti-histone antibody level elevated level of antibodies to histones present in the sera MP:0004797 increased anti-erythrocyte antigen antibody level elevated level of antibodies to erythrocyte antigen present in the sera MP:0004798 decreased anti-double stranded DNA antibody level reduced level of antibodies to double stranded DNA present in the sera MP:0004799 increased susceptibility to experimental autoimmune encephalomyelitis greater likelihood that an organism will develop disease symptoms similar to human multiple sclerosis upon induction with antigens to Myelin Basic Protein (MBP), Proteolipid Protein (PLP), and/or Myelin Oligodendrocyte glycoprotein (MOG) MP:0004800 decreased susceptibility to experimental autoimmune encephalomyelitis reduced likelihood that an organism will develop disease symptoms similar to human multiple sclerosis upon induction with antigens to Myelin Basic Protein (MBP), Proteolipid Protein (PLP), and/or Myelin Oligodendrocyte glycoprotein (MOG) MP:0004801 increased susceptibility to systemic lupus erythematosus greater likelihood that an organism will develop inflammatory connective tissue symptoms characteristic of lupus including skin rash, arthritis and inflammation of different organs MP:0004802 decreased susceptibility to systemic lupus erythematosus reduced likelihood that an organism will develop inflammatory connective tissue symptoms characteristic of lupus including skin rash, arthritis and inflammation of different organs MP:0004803 increased susceptibility to autoimmune diabetes greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas MP:0004804 decreased susceptibility to autoimmune diabetes reduced likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas MP:0004805 absent oocytes absence of mature germ cells in the female MP:0004806 absent germ cells absence of germ cells, that is, any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated MP:0004807 abnormal paired-pulse inhibition any anomaly in the suppressive response of central synapses when activated twice in rapid succession MP:0004808 abnormal hematopoietic stem cell morphology any structural anomaly or number of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages MP:0004809 increased hematopoietic stem cell number greater cell count of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages MP:0004810 decreased hematopoietic stem cell number reduced cell count of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages MP:0004811 abnormal neuron physiology any functional anomaly of the cells of the nervous system that receive, conduct, and transmit impulses MP:0004812 abnormal linear vestibular evoked potential anomaly in the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head); normally, this response is measured by electrophysiological activity of the peripheral vestibular nerve; this assesses the function of the gravity receptor system including the utricles and saccules of the inner ear MP:0004813 absent linear vestibular evoked potential absence of the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head) MP:0004814 reduced linear vestibular evoked potential reduction of the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head) MP:0004815 abnormal somatic hypermutation frequency any anomaly in the high frequency of programmed mutation that occurs in the gene segments encoding the variable regions of antibodies during the differentiation of individual B lymphocytes into antibody producing plasma cells MP:0004816 abnormal class switch recombination anomaly in the rearrangement of the heavy chain genes of differentiating B cells such that the initially encoded heavy chain IgM molecule is altered to one encoding IgG, IgA or IgE; normally, this allows the body to produce antibodies with different effector functions MP:0004817 abnormal skeletal muscle mass anomaly in the physical bulk, or total amount of matter contained within skeletal muscle MP:0004818 increased skeletal muscle mass increase in the physical bulk, or total amount of matter contained within skeletal muscle MP:0004819 decreased skeletal muscle mass reduction in the physical bulk, or total amount of matter contained within skeletal muscle MP:0004820 abnormal urine potassium level any change in the amount of potassium in the urine MP:0004821 increased susceptibility to experimental autoimmune uveoretinitis greater likelihood that an organism will develop disease symptoms similar to human sight-threatening inflammatory eye diseases upon induction by peripheral immunization with one of several uveitogenic retinal proteins (or with peptides derived from them), or by the adoptive transfer of lymphocytes specific to these antigens MP:0004822 decreased susceptibility to experimental autoimmune uveoretinitis reduced likelihood that an organism will develop disease symptoms similar to human sight-threatening inflammatory eye diseases upon induction by peripheral immunization with one of several uveitogenic retinal proteins (or with peptides derived from them), or by the adoptive transfer of lymphocytes specific to these antigens MP:0004823 increased susceptibility to experimental autoimmune myasthenia gravis greater likelihood that an organism will develop disease symptoms similar to human myasthenia gravis upon induction with antigens to acetylcholine receptor subunits MP:0004824 decreased susceptibility to experimental autoimmune myasthenia gravis reduced likelihood that an organism will develop disease symptoms similar to human myasthenia gravis upon induction with antigens to acetylcholine receptor subunits MP:0004825 increased susceptibility to experimental autoimmune thyroiditis greater likelihood that an organism will develop disease symptoms similar to human autoimmune thyroiditis upon induction with antigens to thyroglobulin MP:0004826 decreased susceptibility to experimental autoimmune thyroiditis reduced likelihood that an organism will develop disease symptoms similar to human autoimmune thyroiditis upon induction with antigens to thyroglobulin MP:0004827 increased susceptibility to autoimmune hemolytic anemia greater likelihood that an organism will develop an abnormality of the immune system that destroys red blood cells (hemolysis) prematurely MP:0004828 decreased susceptibility to autoimmune hemolytic anemia reduced likelihood that an organism will develop an abnormality of the immune system that destroys red blood cells (hemolysis) prematurely MP:0004829 increased anti-chromatin antibody level increase in the level of antibodies that recognize chromatin MP:0004830 short incisors reduced length of the set of long teeth that are the most anterior and prominent in the jaw MP:0004831 long incisors increased length of the set of long teeth that are the most anterior and prominent in the jaw MP:0004832 enlarged ovary increased size of the female reproductive gland containing the germ cells MP:0004833 ovary atrophy acquired diminution of the size of the ovaries associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0004834 ovary hemorrhage presence of bleeding in the ovary MP:0004835 abnormal miniature endplate potential defect in the size or duration of spontaneous currents detected in PNS postsynaptic cells that occur in the absence of an excitatory impulse MP:0004836 abnormal synaptic acetylcholine release aberrant release into synapses of the excitatory neurotransmitter found at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector junctions, and at many sites in the central nervous system MP:0004837 abnormal neural fold formation any anomaly in the process by which the edges of the neural plate thicken and move up to form a U-shaped structure called the neural groove MP:0004838 abnormal neural fold elevation formation any anomaly in the process by which the lateral borders of the neural plate begin to migrate upwards to form the neural folds, caused by the proliferation of the underlying mesoderm MP:0004839 bile duct hyperplasia increase in the number of normal cells in normal arrangement in the bile ducts, typically resulting in increased size MP:0004840 increased Deiters cell number increased number of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities MP:0004841 abnormal small intestine crypts of Lieberkuhn morphology any structural anomaly of the parallel, tubular, epithelial pits (crypts) with openings at the bases of the small intestinal villi; their thin walls are formed by columnar epithelial cells: mostly undifferentiated stem and intermediate cells and an increasing number of mucus-secreting goblet cells as the small intestine proceeds distally, all of which migrate out of the glands onto the villi, but also protein- (enzyme-) secreting Paneth cells that remain in the glands MP:0004842 abnormal large intestine crypts of Lieberkuhn morphology any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine MP:0004843 abnormal Paneth cell morphology any structural anomaly of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine MP:0004844 abnormal vestibuloocular reflex any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system in which impulses are conveyed from the semicircular canals and the otolithic membrane to the oculomotor nerve; this stimulation may occur by angular acceleration or deceleration or by irrigation of the ear with hot or cold water; normally, this reflex functions to maintain a stable retinal image during head rotation by generating appropriate compensatory eye movements MP:0004845 absent vestibuloocular reflex absence of nystagmus or deviation of the eyes in response to stimulation of the vestibular system MP:0004846 absent skeletal muscle absence of any of the striated muscle fibers connected at either or both extremities with the bony framework of the body MP:0004847 abnormal liver weight anomaly in the average weight of the bile-secreting exocrine gland MP:0004848 abnormal liver size anomaly in the average size of the liver MP:0004849 abnormal testis size anomaly in the size of the male reproductive glands MP:0004850 abnormal testis weight anomaly in the average weight of the male reproductive glands MP:0004851 increased testis weight greater average weight of the male reproductive glands MP:0004852 decreased testis weight reduced average weight of the male reproductive glands MP:0004853 abnormal ovary size anomaly in the average size of the female reproductive gland containing the germ cells MP:0004854 abnormal ovary weight anomaly in the average weight of the female reproductive gland containing the germ cells MP:0004855 increased ovary weight greater average weight of the female reproductive gland containing the germ cells MP:0004856 decreased ovary weight reduction in the average weight of the female reproductive gland containing the germ cells MP:0004857 abnormal heart weight anomaly in the average weight of the heart compared to controls MP:0004858 abnormal nervous system regeneration anomaly in the renewal, repair, and/or regrowth of nervous system tissue following injury or disease MP:0004859 abnormal synaptic plasticity anomaly in the ability of a synapse to change its strength as a result of successive activations MP:0004860 dilated kidney collecting duct stretched or widened aperture of the luminal space of one or more of the kidney collecting ducts MP:0004861 abnormal Raphe nucleus morphology any structural anomaly of the subgroup of the reticular nuclei of the brain stem that are located in and along the median plane of the medulla oblongata, pons, and mesencephalon that include neurons that synthesize serotonin and extend ascending fibers to parts of the limbic system and descending fibers to other brain stem nuclei, the medulla oblongata, and the pons MP:0004862 small scala tympani volume reduction of the division of the spiral canal of the cochlea lying on the basal side of the spiral lamina MP:0004863 thin spiral ligament reduced thickness of the periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches MP:0004864 spiral ligament degeneration degeneration or loss of the thickened periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches MP:0004865 abnormal platelet calcium level anomaly in the amount in the platelet of calcium MP:0004866 increased platelet calcium level increased concentration in the platelet of calcium MP:0004867 decreased platelet calcium level decreased concentration in the platelet of calcium MP:0004868 increased endometrial carcinoma incidence greater than the expected number of a malignant neoplasm arising from the endometrial tissue, occurring in a specific population in a given time period MP:0004869 frontal bone hypoplasia decrease in the number of normal cells in normal arrangement in the frontal bone, typically resulting in decreased size MP:0004870 small premaxilla reduced size of the anterior and interior portion of the maxilla MP:0004871 premaxilla hypoplasia decrease in the number of normal cells in normal arrangement in the premaxilla, typically resulting in decreased size MP:0004872 absent nasal septum absence of the structure that separates the two nasal cavities MP:0004873 absent turbinates absence of the small curved bones that extend horizontally along the lateral wall of the nasal passage MP:0004874 abnormal timing of postnatal eyelid opening anomaly in the average time for the first postnatal eye opening, or failure of eyes to ever open MP:0004875 increased mean systemic arterial blood pressure increase in the average arterial pressure during a single cardiac cycle MP:0004876 decreased mean systemic arterial blood pressure decrease in the average arterial pressure during a single cardiac cycle MP:0004877 abnormal systemic vascular resistance anomaly in the normal force opposing blood flow in the peripheral blood vessels MP:0004878 increased systemic vascular resistance increase in the normal force opposing blood flow in the peripheral blood vessels MP:0004879 decreased systemic vascular resistance reduction in the normal force opposing blood flow in the peripheral blood vessels MP:0004880 lung cyst presence of one or more abnormal membranous or fluid-filled sacs in the lung MP:0004881 abnormal lung size anomaly in the size of the lung compared to controls MP:0004882 enlarged lung increased size of the lung compared to controls MP:0004883 abnormal vascular wound healing anomaly in the repair process of damaged blood vessels after injury MP:0004884 abnormal testis physiology any functional anomaly of the male reproductive glands MP:0004885 abnormal endolymph physiology any alteration in the normal production (volume) or ionic homeostasis of the fluid contained within the membranous labyrinth of the inner ear; unlike perilymph, endolymph resembles intracellular fluid in composition and has a high concentration of potassium ion and a low concentration of sodium ion MP:0004886 increased endolymph production increased synthesis of the fluid that is normally contained within the membranous labyrinth of the inner ear MP:0004887 decreased endolymph production reduced synthesis of the fluid that is normally contained within the membranous labyrinth of the inner ear MP:0004888 abnormal perilymph physiology change in the normal production (volume) or ionic homeostasis of the fluid contained within the osseous labyrinth, surrounding and protecting the membranous labyrinth; perilymph resembles extracellular fluid in composition, has a high concentration of sodium ion and a low concentration of potassium ion and, through the perilymphatic duct, is in continuity with cerebrospinal fluid MP:0004889 increased energy expenditure increase in the number of calories used per unit time or decrease in weight gain for a given amount of food eaten MP:0004890 decreased energy expenditure decrease in the number of calories used per unit time or increase in weight gain for a given amount of food eaten MP:0004891 abnormal adiponectin level abnormal level of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue MP:0004892 increased adiponectin level greater level of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue MP:0004893 decreased adiponectin level reduced concentration of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue MP:0004894 uterus atrophy acquired diminution of the size of the uterus associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0004895 vagina atrophy acquired diminution of the size of the vagina associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0004896 abnormal endometrium morphology any structural anomaly of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy MP:0004897 otosclerosis formation of spongy bone in the bony labyrinth of the ear, especially adjacent to the footplate of the stapes; it may cause bony ankylosis of the stapes, resulting in conductive hearing loss; cochlear otosclerosis results in sensorineural hearing loss MP:0004898 uterine hemorrhage presence of bleeding in the uterus; often in response to failed pregnancy MP:0004899 absent temporal bone squamous part absence of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault MP:0004900 absent zygomatic arch absence of the bony arch that extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone MP:0004901 decreased male germ cell number reduced numbers of male germ cells whether they are undifferentiated or fully differentiated MP:0004902 abnormal uterus size anomaly in the size of the female organ of gestation MP:0004903 abnormal uterus weight anomaly in the weight of the female organ of gestation MP:0004904 increased uterus weight increase in the weight of the female organ of gestation MP:0004905 decreased uterus weight reduction in the weight of the female organ of gestation MP:0004906 enlarged uterus increased size of the female muscular organ of gestation MP:0004907 abnormal seminal vesicle size anomaly in the size of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens MP:0004908 abnormal seminal vesicle weight anomaly in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens MP:0004909 increased seminal vesicle weight increase in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens MP:0004910 decreased seminal vesicle weight reduction in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens MP:0004911 absent mandibular condyloid process absence of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint MP:0004912 absent mandibular coronoid process absence of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion) MP:0004913 absent mandibular angle absence of the portion of the mandible where the body of the mandible (horizontal portion) and the rami (perpendicular portions) meet; these normally unite nearly at right angles MP:0004914 absent ultimobranchial body absence of the outpocketing of the caudal-most branchial pouch of the embryo (interpreted as a fifth pouch in human or as the ventral component of the fourth pouch in mouse) that fuses with the thyroid diverticulum, ultimately giving rise to calcitonin-producing parafollicular cells (aka C-cells) which function in calcium homeostasis; in most mammals, these parafollicular cells fully disperse with the endodermally derived follicular cells of the thyroid by birth MP:0004915 abnormal Reichert's cartilage morphology any structural anomaly of the cartilage found in the mesenchyme of the second pharyngeal arch in the embryo from which develop the stapes, styloid process, lesser horn and upper part of the body of the hyoid bone; its proximal end gives rise to the stylohyoid ligament MP:0004916 absent Reichert cartilage absence of the cartilage normally found in the mesenchyme of the second branchial arch in the embryo, from which develop the stapes, the styloid processes, the stylohyoid ligaments, and the lesser cornua of the hyoid bone MP:0004917 abnormal T cell selection any anomaly in the process through which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation MP:0004918 abnormal negative T cell selection any anomaly in the process of elimination of immature T cells which react strongly with self-antigens MP:0004919 abnormal positive T cell selection any anomaly in the process of sparing immature T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death MP:0004920 increased placenta weight increase in the weight of the organ of metabolic interchange between fetus and mother MP:0004921 decreased placenta weight reduction in the weight of the organ of metabolic interchange between fetus and mother MP:0004922 abnormal common crus morphology any structural anomaly in the united, nonampullary ends of the superior and posterior semicircular ducts of the inner ear MP:0004923 absent common crus absence of the united, nonampullary ends of the superior and posterior semicircular ducts in the inner ear MP:0004924 abnormal behavior any anomaly in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls MP:0004925 decreased susceptibility to noise-induced hearing loss less than normal reduction in hearing sensitivity following exposure to acute noise that is injurious to the cochlea MP:0004926 abnormal epididymis size anomaly in the size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens MP:0004927 abnormal epididymis weight anomaly in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens MP:0004928 increased epididymis weight increase in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens MP:0004929 decreased epididymis weight reduction in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens MP:0004930 small epididymis decrease in the average size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens MP:0004931 enlarged epididymis increase in the average size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens MP:0004932 epididymis hypoplasia decrease in the number of normal cells in normal arrangement in the epididymis, typically resulting in decreased size MP:0004933 abnormal epididymis epithelium morphology any structural anomaly of the layer of secretory cells which lines the epididymis MP:0004934 epididymis epithelium degeneration pathological deterioration of the layer of secretory cells which lines the epididymis MP:0004935 epididymis degeneration pathological deterioration of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens MP:0004936 impaired branching involved in ureteric bud morphogenesis partial or complete failure of the ureteric bud to repeatedly divide into lobules during development of the kidney MP:0004937 dilated heart stretched or widened aperture of one or more of the luminal spaces of the heart, usually with an increase in contained fluid MP:0004938 dilated vasculature stretched or widened aperture of the luminal space of one or more of the blood vessels MP:0004939 abnormal B cell morphology any structural anomaly of lymphocytes that expresses membrane-bound immunoglobulin complexes in the mature form, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens MP:0004940 abnormal B-1 B cell morphology any structural anomaly of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and are enriched for self-reactivity; B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas MP:0004941 abnormal regulatory T cell morphology any structural anomaly of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity; these may include T cells that express the CD8 transmembrane glycoprotein (CD8-positive T cells), those that express CD4 and CD25 (CD4-positive, CD25-positive regulatory T cells or Tregs) and other T cell types that have suppressor function MP:0004942 abnormal B cell selection anomaly in the process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival MP:0004943 abnormal B cell positive selection any anomaly in the process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival MP:0004944 abnormal B cell negative selection any anomaly in the process through which B cells which react strongly with self-antigens are eliminated, usually through anergy or deletion MP:0004945 abnormal bone resorption anomaly in the process of degrading the organic and inorganic phases of bone by absorption, usually by the abnormal function or by absence of osteoclasts MP:0004946 abnormal regulatory T cell physiology any functional anomaly of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity; these may include T cells that express the CD8 transmembrane glycoprotein (CD8-positive T cells), those that express CD4 and CD25 (CD4-positive, CD25-positive regulatory T cells or Tregs) and other T cell types that have suppressor function MP:0004947 skin inflammation local accumulation of fluid, plasma proteins, and leukocytes in the skin MP:0004948 abnormal neuronal precursor proliferation any anomaly in the ability of a neuroblast population to undergo rapid expansion by cell division MP:0004949 absent neuronal precursor cells absence of the neuroblast embryonic cells that develop into nerve cells or neurons MP:0004950 abnormal brain vasculature morphology any structural anomaly of the blood vessel network of the brain MP:0004951 abnormal spleen weight anomaly in the average weight of the organ that functions to filter blood and to store red corpuscles and platelets MP:0004952 increased spleen weight greater than average weight of the organ that functions to filter blood and to store red corpuscles and platelets MP:0004953 decreased spleen weight reduction in the average weight of the organ that functions to filter blood and to store red corpuscles and platelets MP:0004954 abnormal thymus weight anomaly in the average weight of the primary lymphoid organ that is required for maturation of T cells MP:0004955 increased thymus weight greater than average weight of the primary lymphoid organ that is required for maturation of T cells MP:0004956 decreased thymus weight reduction in the average weight of the primary lymphoid organ that is required for maturation of T cells MP:0004957 abnormal blastocyst morphology any structural anomaly of the preimplantation embryo of mammals consisting of a hollow sphere of cells with an outer cell layer (trophoblast) that forms the placenta, a fluid-filled cavity (blastocoele), and a cluster of cells on the interior (the inner cell mass) that forms the embryo MP:0004958 enlarged prostate gland increased size of the gland in males that secretes part of the seminiferous fluid MP:0004959 abnormal prostate gland size anomaly in the average size of the gland in males that secretes part of the seminiferous fluid MP:0004960 abnormal prostate gland weight anomaly in the average weight of the gland in males that secretes part of the seminiferous fluid MP:0004961 increased prostate gland weight greater than average weight of the gland in males that secretes part of the seminiferous fluid MP:0004962 decreased prostate gland weight reduction in the average weight of the gland in males that secretes part of the seminiferous fluid MP:0004963 abnormal blastocoele morphology any structural anomaly the fluid-filled cavity of the blastocyst of the preimplantation embryo of mammals MP:0004964 absent inner cell mass absence of the cells of the blastocyst that develop into the body of the embryo MP:0004965 inner cell mass degeneration a retrogressive impairment of function or destruction of the cells of the blastocyst that develop into the body of the embryo MP:0004966 abnormal inner cell mass proliferation any anomaly in the ability of the inner cell mass population to undergo rapid expansion by cell division MP:0004967 abnormal kidney epithelium morphology any structural anomaly of the cellular avascular layer of the kidney luminar surfaces MP:0004968 kidney epithelium hyperplasia increase in the number of normal cells in normal arrangement in the kidney epithelium, typically resulting in increased size MP:0004969 pale kidney kidney lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition MP:0004970 kidney atrophy acquired diminution of the size of the kidney associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0004971 dermal hyperplasia increase in the number of normal cells in normal arrangement in the dermal layer of the skin, typically resulting in increased thickness MP:0004972 abnormal regulatory T cell number deviation from the average count of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity MP:0004973 increased regulatory T cell number greater number of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity MP:0004974 decreased regulatory T cell number reduced number of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity MP:0004975 absent regulatory T cells absence of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity MP:0004976 abnormal B-1 B cell number deviation from the normal count of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity MP:0004977 increased B-1 B cell number greater number of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity MP:0004978 decreased B-1 B cell number reduced number of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity MP:0004979 abnormal neuronal precursor cell number deviation from the normal count of the neuroblast embryonic cells that develop into nerve cells or neurons MP:0004980 increased neuronal precursor cell number increased number of the neuroblast embryonic cells that develop into nerve cells or neurons MP:0004981 decreased neuronal precursor cell number reduced number of the neuroblast embryonic cells that develop into nerve cells or neurons MP:0004982 abnormal osteoclast morphology any structural anomaly of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue MP:0004983 abnormal osteoclast cell number deviation from the average number of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue MP:0004984 increased osteoclast cell number greater than average number of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue MP:0004985 decreased osteoclast cell number reduced number of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue MP:0004986 abnormal osteoblast morphology any structural anomaly of a skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell MP:0004987 abnormal osteoblast cell number deviation from the average number of the skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell MP:0004988 increased osteoblast cell number greater than average number of skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell MP:0004989 decreased osteoblast cell number reduction in the number of skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell MP:0004990 abnormal ciliary ganglion morphology any structural anomaly of the parasympathetic ganglia in the orbit behind the eye that receives preganglionic innervation through the oculomotor nerve MP:0004991 decreased bone strength reduced ability of bone to endure the application of force without yielding or breaking MP:0004992 increased bone resorption greater than average amount of degradation of the organic and inorganic phases of bone by absorption, usually by the abnormal function or number of osteoclasts MP:0004993 decreased bone resorption reduced amount of degradation of the organic and inorganic phases of bone by absorption, usually by the abnormal function or number of osteoclasts MP:0004994 abnormal brain wave pattern any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG); the pattern is often measured to diagnose neurological conditions such as seizure disorders (epilepsy) MP:0004995 abnormal B cell clonal deletion a defect in the process of removal by apoptosis of immature B lymphocytes that interact with self antigens during maturation MP:0004996 abnormal CNS synapse formation any anomaly in the process of generating the initial connections between an axon and effector tissue or neuron MP:0004997 increased CNS synapse formation greater frequency of the process of generating the initial connections between an axon and effector tissue or neuron MP:0004998 decreased CNS synapse formation a reduction in the frequency of the process of generating the initial connections between an axon and effector tissue or neuron MP:0004999 abnormal blood-inner ear barrier function anomaly in the function of the group of barriers and transport systems which regulate the transport of various substances from blood to inner ear tissue and maintain the microhomeostasis and functional integrity of the inner ear; the endothelial cells of the inner ear blood capillaries, linked to each other by tight junctions, represent the main component of the blood-inner ear barrier MP:0005000 abnormal immune tolerance anomaly in the process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it MP:0005001 abnormal clonal deletion a defect in the process of removal of immature lymphocytes that interact with self antigens during maturation MP:0005002 abnormal T cell clonal deletion a defect in the process of removal of immature T lymphocytes that interact with self antigens during maturation MP:0005003 obsolete B cell clonal deletion abnormalities OBSOLETE. a defect in the process of removal of immature B lymphocytes that interact with self antigens during maturation MP:0005004 abnormal lymphocyte anergy anomaly in the process of establishing a state of functional inactivation of self-reactive lymphocytes MP:0005005 abnormal self tolerance a defect in the normal lack of response to autologous (self) antigens MP:0005006 abnormal osteoblast physiology any functional anomaly of a skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell MP:0005009 obsolete congenital skeletal deformities OBSOLETE. malformations of the bones/skeleton existing at birth MP:0005010 abnormal CD8-positive, alpha beta T cell morphology any structural anomaly of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions MP:0005011 increased eosinophil cell number greater than normal eosinophil numbers MP:0005012 decreased eosinophil cell number fewer than normal eosinophil numbers MP:0005013 increased lymphocyte cell number greater than normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells MP:0005014 increased B cell number greater than normal number of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity MP:0005015 increased T cell number greater than normal T cell numbers MP:0005016 decreased lymphocyte cell number fewer than normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells MP:0005017 decreased B cell number fewer than normal number of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity MP:0005018 decreased T cell number fewer than normal T cell numbers MP:0005019 abnormal early pro-B cell any structural anomaly of cells in the B lymphocyte lineage that undergo D-J rearrangement of the immunoglobulin heavy chain MP:0005020 abnormal late pro-B cell any structural anomaly of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain MP:0005021 obsolete B lymphoblast abnormalities OBSOLETE. MP:0005022 abnormal immature B cell morphology any structural anomaly of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity MP:0005023 abnormal wound healing aberrant process of repair of trauma to any tissues of the body, especially that caused by physical means MP:0005025 abnormal response to infection any anomaly in the body's reaction to invasion and multiplication of microorganisms in its tissues, or the body's reaction to components of or toxins produced by pathogenic microorganisms MP:0005026 decreased susceptibility to parasitic infection reduced likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by parasites MP:0005027 increased susceptibility to parasitic infection greater likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by parasites MP:0005028 abnormal trophectoderm morphology any structural anomaly outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition MP:0005029 abnormal amnion morphology any structural anomaly of the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected MP:0005030 absent amnion absence of the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected MP:0005031 abnormal trophoblast layer morphology any structural anomaly of the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta MP:0005032 abnormal ectoplacental cone morphology any structural anomaly of the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta MP:0005033 abnormal trophoblast giant cell morphology anomaly of the cells covering the blastocyst that erode the uterine mucosa and contribute to the formation of the placenta MP:0005034 abnormal anus morphology any structural anomaly of the lower opening of the digestive tract MP:0005035 perianal ulcer lesion around or near the anus MP:0005036 diarrhea abnormally frequent discharge of semi-solid or fluid fecal matter from the bowel MP:0005037 mucous diarrhea presence of considerable mucous in the stools MP:0005039 hypoxia reduced oxygenation of body tissues resulting in the decreased pressure of this component of body gases; commonly due to hypoxemia MP:0005040 abnormal MHC II cell surface expression on macrophages anomaly in the ability of macrophages to express major histocompatibility complex class II at the cell surface MP:0005041 abnormal antigen presentation via MHC class II anomaly in the process by which peptide, bound to major histocompatibility complex class II, is presented to lymphocytes at the surface of antigen presenting cells MP:0005042 abnormal level of surface class II molecules deviation from the normal concentration of major histocompatibility complex class II molecules expressed at the cell surface MP:0005043 defective assembly of class II molecules impaired production of major histocompatibility complex class II molecules MP:0005044 sepsis presence of various pathogenic organisms, or their toxins, in the blood or tissues MP:0005046 absent spleen white pulp absence of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies MP:0005047 enlarged celiac lymph nodes increased size of the celiac lymph nodes MP:0005048 abnormal thrombosis any anomaly in the formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements MP:0005049 obsolete abnormal cytokine physiology OBSOLETE. functional anomaly of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells MP:0005050 obsolete abnormal chemotactic interleukin physiology OBSOLETE. functional anomaly of any of a subset of interleukins that are involved in attracting leukocytes to a site of tissue injury MP:0005051 obsolete altered response to anesthetics OBSOLETE. a reaction that differs from normal to compounds that reversibly depress neuronal function MP:0005052 obsolete increased sleep after pentobarbital treatment OBSOLETE. MP:0005053 obsolete altered response to pentobarbital OBSOLETE. a reaction to pentobarbital that differs from normal MP:0005054 obsolete altered response to tribromoethanol OBSOLETE. a reaction to tribromoethanol that differs from normal MP:0005055 obsolete altered response to alphaxalone OBSOLETE. a reaction to alphaxalone that differs from controls MP:0005056 obsolete increased sleep after tribromoethanol treatment OBSOLETE. MP:0005057 obsolete increased sleep after alphaxalone treatment OBSOLETE. MP:0005058 abnormal lysosome morphology any structural anomaly of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases MP:0005059 lysosomal protein accumulation buildup of protein in the lysosome MP:0005060 accumulation of giant lysosomes in kidney/renal tubule cells buildup of contents in lysosomes in cells of the kidney tubules MP:0005061 abnormal eosinophil morphology any structural anomaly of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions MP:0005062 obsolete presence of giant granules in eosinophils OBSOLETE. MP:0005064 obsolete presence of giant granules in lymphocytes OBSOLETE. MP:0005065 abnormal neutrophil morphology any structural anomaly of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes MP:0005066 obsolete presence of giant granules in neutrophils OBSOLETE. MP:0005067 obsolete presence of melanin granules in retina OBSOLETE. pigment particles found in retina MP:0005068 abnormal NK cell morphology any structural anomaly of a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells MP:0005070 impaired natural killer cell mediated cytotoxicity impaired ability of directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors MP:0005071 enlarged hair follicle melanin granules increased size of the pigment particles located in the hair follicle MP:0005072 abnormal hair follicle melanin granule morphology any structural anomaly of the pigment particles in the hair follicles MP:0005074 impaired granulocyte bactericidal activity inability or reduced ability of neutrophils, eosinophils, or basophils to kill bacteria MP:0005075 abnormal melanosome morphology any structural anomaly of the tissue-specific cytoplasmic organelles within which melanin pigments are synthesized and stored MP:0005076 abnormal cell differentiation anomaly in the process whereby relatively unspecialized cells, e. g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history MP:0005077 abnormal melanogenesis anomaly in the biosynthetic pathway of melanin formation in cells MP:0005078 abnormal cytotoxic T cell physiology any functional anomaly of the subset of CD8-positive T lymphocytes capable of directly killing appropriately targeted cells MP:0005079 decreased cytotoxic T cell cytolysis impaired ability of cytotoxic T cells to induce pathological breakdown of target cells by the destruction of their outer membrane MP:0005081 abnormal dermis reticular layer morphology any structural anomaly of the thicker, deeper layer of the dermis, comprised of criss-crossing collagen fibers that form a strong elastic network and also containing blood and lymph vessels, nerves and nerve endings, and hair follicles MP:0005083 abnormal biliary tract morphology any structural anomaly of the gall bladder or its bile ducts MP:0005084 abnormal gallbladder morphology any structural anomaly of the organ which serves as a storage reservoir for bile MP:0005085 abnormal gallbladder physiology any functional anomaly of the organ that stores and concentrates bile MP:0005087 decreased acute inflammation less than the expected early reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response MP:0005088 increased acute inflammation greater than the expected early reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response MP:0005089 decreased double-negative T cell number reduced numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8 MP:0005090 increased double-negative T cell number greater than expected numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8 MP:0005091 increased double-positive T cell number greater than the expected number of the subset of T cells found in the thymus that express both CD4 and CD8 MP:0005092 decreased double-positive T cell number less than the expected number of the subset of T cells found in the thymus that express both CD4 and CD8 MP:0005093 decreased B cell proliferation absent or reduced expansion rate of the B cell population by cell division in response to stimuli MP:0005094 abnormal T cell proliferation anomaly in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli MP:0005095 decreased T cell proliferation reduction in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli MP:0005096 erythroblastosis presence of erythroblasts in great number in the blood MP:0005097 polychromatophilia condition characterized by the presence of red blood cells that have an affinity for acid, basic, and neutral stains MP:0005098 abnormal optic choroid morphology any structural anomaly of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera MP:0005099 abnormal ciliary body morphology any structural anomaly of the thickened portion of the vascular tunic, which lies between the choroid and the iris, and is made up of the ciliary muscle and the ciliary processes; the processes radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye MP:0005100 abnormal choroid pigmentation anomalous coloring of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera MP:0005101 abnormal ciliary body pigmentation anomalous coloring of the thickened portion of the vascular tunic, which lies between the choroid and the iris MP:0005102 abnormal iris pigmentation anomalous coloring of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye MP:0005103 abnormal retina pigmentation anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors MP:0005104 abnormal tarsal bone morphology any structural anomaly of any of the eight bones of the instep of the paw/foot: tibiale, talus, calcaneus, navicular, 3 cuneiform, and cuboid bones MP:0005105 abnormal middle ear ossicle morphology any structural anomaly of the three small bones of the middle ear MP:0005106 abnormal incus morphology any structural anomaly of the anvil-shaped, central bone of the three auditory ossicles which articulates with the head of the malleus anteromedially and the stapes inferomedially; its parts include: a body which articulates with the head of the malleus, and to which the superior ligament of the incus is attached (to the roof of the middle ear cavity); a long crus down to the lentiform process (lenticular process) which articulates with the stapes; and a short crus to which the posterior ligament of the incus is attached MP:0005107 abnormal stapes morphology any structural anomaly of the smallest and innermost of the three auditory ossicles MP:0005108 abnormal ulna morphology any structural anomaly of the medial and larger of the two bones of the forearm MP:0005109 abnormal talus morphology any structural anomaly of the bone that articulates with the tibia and fibula MP:0005110 absent talus absence of the bone that articulates with the tibia and fibula MP:0005111 hyperdipsia intense thirst that is relatively temporary MP:0005112 abnormal spinal cord ventral horn morphology any structural anomaly of the ventral grey column of the spinal cord MP:0005113 decreased spinal cord ventral horn cell number fewer than the expected number of cells in the ventral grey column of the spinal cord MP:0005114 premature hair loss release of fur at an earlier than expected time MP:0005116 abnormal circulating pituitary hormone level aberration in the blood concentration of any of the hormones secreted by the pituitary MP:0005117 increased circulating pituitary hormone level greater than expected concentration of any of the pituitary hormones in the blood MP:0005118 decreased circulating pituitary hormone level less than expected concentration of any of the pituitary hormones found in the blood MP:0005119 decreased circulating thyroid-stimulating hormone level reduced amount in the blood of the hormone that stimulates the growth and function of the thyroid gland MP:0005120 decreased circulating growth hormone level less than the expected blood concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization MP:0005121 decreased circulating prolactin level less than expected blood concentration of the hormone that stimulates milk secretion MP:0005122 increased circulating thyroid-stimulating hormone level greater amount in the blood of the hormone that stimulates the growth and function of the thyroid gland MP:0005123 increased circulating growth hormone level greater than the expected blood concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization MP:0005124 increased circulating prolactin level greater than expected blood concentration of the hormone that stimulates milk secretion MP:0005128 decreased adrenocorticotropin level decreased concentration of adrenocorticotropic hormone MP:0005129 increased adrenocorticotropin level increased concentration of adrenocorticotropic hormone MP:0005130 decreased follicle stimulating hormone level less than expected concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis MP:0005131 increased follicle stimulating hormone level greater than expected concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis MP:0005132 decreased luteinizing hormone level lower than normal concentration of LH MP:0005133 increased luteinizing hormone level higher than normal levels of LH MP:0005134 decreased thyroid-stimulating hormone level reduced amount of the hormone that stimulates the growth and function of the thyroid gland MP:0005135 increased thyroid-stimulating hormone level greater amount of the hormone that stimulates the growth and function of the thyroid gland MP:0005136 decreased growth hormone level less than the expected concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization MP:0005137 increased growth hormone level greater than the expected concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization MP:0005138 decreased prolactin level less than expected concentration of the hormone that stimulates milk secretion MP:0005139 increased prolactin level greater than expected concentration of the hormone that stimulates milk secretion MP:0005140 decreased cardiac muscle contractility inability or reduced ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume MP:0005141 liver hyperplasia increase in the number of normal cells in normal arrangement in the liver, typically resulting in increased size MP:0005144 abnormal circulating VLDL cholesterol level any anomaly in the amount in the blood of the lipoprotein:cholesterol complex that transports triglycerides from the intestine and liver to muscle and adipose tissue MP:0005145 increased circulating VLDL cholesterol level greater amount in the blood of the lipoprotein:cholesterol complex that transports triglycerides from the intestine and liver to muscle and adipose tissue MP:0005146 decreased circulating VLDL cholesterol level reduced amount in the blood of the lipoprotein:cholesterol complex that transports triglycerides from the intestine and liver to muscle and adipose tissue MP:0005147 prostate gland hypoplasia decrease in the number of normal cells in normal arrangement in the prostate gland, typically resulting in decreased size MP:0005148 seminal vesicle hypoplasia decrease in the number of normal cells in normal arrangement in the seminal vesicle, typically resulting in decreased size MP:0005149 abnormal gubernaculum morphology any structural anomaly of the genitoinguinal ligaments that, in the male, connect the fetal testis to the developing scrotum, and, in the female, connect the ovaries to the uterus MP:0005150 cachexia general weight loss and wasting occurring in the course of chronic disease MP:0005151 diffuse hepatic necrosis morphological changes resulting from disseminated pathological death of some or all liver tissue; usually due to irreversible damage MP:0005152 pancytopenia reduction in the number of erythrocytes, all types of white blood cells, and platelets in the circulating blood MP:0005153 abnormal B cell proliferation anomaly in the ability of the B cell population to undergo rapid expansion by cell division in response to stimuli MP:0005154 increased B cell proliferation greater than normal expansion rate of the B cell population by cell division in response to stimuli MP:0005155 herniated intestine protrusion of any portion of the intestine from its normal anatomical position MP:0005156 bradykinesia decreased spontaneity and movement, without external stimulus MP:0005157 holoprosencephaly presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development MP:0005158 ovary hypoplasia decrease in the number of normal cells in normal arrangement in the ovary, typically resulting in decreased size MP:0005159 azoospermia a condition where there is no measurable level of spermatozoa in the semen MP:0005161 hematuria presence of blood in the urine MP:0005162 carpoptosis paralysis of the extensors of the wrist and fingers; most often caused by a lesion of the radial nerve MP:0005163 cyclopia a congenital defect characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities; cyclopia is a rare form of holoprosencephaly that typically presents with a median single eye or a partially divided eye in a single orbit, absent nose, and a proboscis above the eye MP:0005164 abnormal response to injury anomaly in the body's reaction to trauma, especially that by physical means MP:0005165 increased susceptibility to injury greater than the normal reaction to trauma, especially that by physical means MP:0005166 decreased susceptibility to injury less than the normal reaction to trauma, especially that by physical means MP:0005167 abnormal blood-brain barrier function anomaly in the function of the group of barriers and transport systems in the brain capillary endothelium that controls the entrance of substances into the brain extracellular space from the blood MP:0005168 abnormal female meiosis anomaly in the process of nuclear division that results in ova with one half the normal chromosome number of the original cell MP:0005169 abnormal male meiosis anomaly in the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell MP:0005170 cleft upper lip defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences MP:0005171 absent coat pigmentation fur or hair is devoid of coloration and appears white MP:0005172 decreased eye pigmentation the eye has less pigmentation than normal with a possible range of color from dark red, somewhat reduced in pigment, to pink, typical of albinism or ocular albinism MP:0005174 abnormal tail pigmentation anomaly in the coloration of the tail due to changes in the amount, shape, or distribution of cells producing pigment MP:0005175 non-pigmented tail tip lack of color at the end of the tail MP:0005176 eyelids fail to open eyes remain shut when eyelids are expected to be open MP:0005178 increased circulating cholesterol level greater than the normal amount in the blood of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MP:0005179 decreased circulating cholesterol level less than the normal amount in the blood of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MP:0005180 abnormal circulating testosterone level anomaly in the blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females MP:0005181 decreased circulating estradiol level less than the normal blood concentration of this most potent naturally occurring estrogen in mammals MP:0005182 increased circulating estradiol level greater than the normal blood concentration of this most potent naturally occurring estrogen in mammals MP:0005183 abnormal circulating estradiol level aberration in the blood concentration of this most potent estrogen MP:0005184 abnormal circulating progesterone level anomaly in the blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy MP:0005185 decreased circulating progesterone level reduced blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy MP:0005186 increased circulating progesterone level increased blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy MP:0005187 abnormal penis morphology any structural anomaly of the organ of copulation and urination in the male MP:0005188 small penis reduced size of the organ of copulation and urination in the male MP:0005189 abnormal anogenital distance in comparison to the norm, aberration in the measure of the length of space from the genitals to the anus MP:0005190 osteomyelitis bone inflammation MP:0005191 head tilt condition in which the portion of the body containing the brain and organs of sight, hearing, taste, and smell lists to the side MP:0005192 increased motor neuron number greater than the normal number of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses MP:0005193 abnormal anterior eye segment morphology any structural anomaly of any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive) MP:0005194 abnormal anterior uvea morphology any structural anomaly of any of the parts of the front, or ventral, portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris MP:0005195 abnormal posterior eye segment morphology any structural anomaly of any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive) MP:0005196 obsolete abnormal posterior uvea morphology any structural anomaly of the rear, or dorsal, portion of the vascular, pigmentary, or middle coat of the eye, includes the choroid MP:0005197 abnormal uvea morphology any structural anomaly of the pigmented vascular coat of the eyeball, consisting of the iris, ciliary body, and choroid MP:0005198 abnormal aqueous drainage system morphology any structural anomaly of the structures associated with drainage of the aqueous humor from the eye, that include the trabecular meshwork, Schlemm's canal, the uveoscleral network, and the aqueous veins MP:0005199 abnormal iris pigment epithelium anomaly in the epithelial layer of the iris composed of cells containing pigment granules MP:0005200 obsolete abnormal eye pigment epithelium morphology OBSOLETE. any structural anomaly in the epithelial layer of the retina, ciliary body, or iris composed of cells containing pigment granules MP:0005201 abnormal retina pigment epithelium morphology any structural anomaly in the epithelial layer of the retina composed of cells containing pigment granules MP:0005202 lethargy mild impairment of consciousness resulting in reduced alertness and awareness and/or sluggish behavior or inactivity; can be due to generalized brain dysfunction MP:0005203 abnormal trabecular meshwork morphology any structural anomaly in the pore-like structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates MP:0005204 abnormal canal of Schlemm morphology any structural anomaly in the vascular structure encircling the anterior chamber of the eye, through which the aqueous humor is returned to the blood circulation MP:0005205 abnormal eye anterior chamber morphology any structural anomaly of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens MP:0005206 abnormal aqueous humor anomaly in the clear, watery fluid that fills the anterior and posterior chambers of the eye MP:0005207 abnormal aqueous vein morphology any structural anomaly of this vessel that receives aqueous humor from the sinus venosus sclerae (canal of Schlemm) MP:0005208 abnormal iris stroma morphology any structural anomaly of the lamellated vascular connective tissue of the iris MP:0005210 disorganized stomach mucosa derangement of the pattern of the mucous layer of the stomach wall MP:0005211 increased stomach mucosa thickness greater than the normal depth or width of the of the mucous layer of the stomach wall MP:0005212 obsolete immature goblet-like cells in stomach OBSOLETE. unusual appearance of stomach mucosa in which one finds cells resembling those that produce and secrete mucins MP:0005213 gastric metaplasia condition in which there is a change of one adult cell type to another adult cell type in the stomach MP:0005214 regional gastric metaplasia localized areas of the stomach in which there is a change from one adult cell type to another adult cell type MP:0005215 abnormal pancreatic islet morphology any structural anomaly of the clusters of hormone-producing cells that are scattered throughout the pancreas MP:0005216 abnormal pancreatic alpha cell morphology any structural anomaly of the cells of the pancreas that secrete glucagon MP:0005217 abnormal pancreatic beta cell morphology any structural anomaly of a cell that secretes insulin and is located towards the center of the islets of Langerhans in the pancreas MP:0005218 abnormal pancreatic delta cell morphology any structural anomaly of the cells found in the pancreas that secrete somatostatin MP:0005220 abnormal exocrine pancreas morphology any structural anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes MP:0005221 abnormal rostral-caudal axis patterning anomaly in the development or formation of the axis that runs from the head to the tail of the body MP:0005222 abnormal somite size atypical size of any of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo MP:0005223 abnormal dorsal-ventral polarity of the somites anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body MP:0005224 abnormal left-right axis symmetry of the somites anomaly in the formation or development of the somites in relation to the left and right sides of the body MP:0005225 abnormal vertebrae development anomalous formation of the vertebrae from the sclerotome MP:0005226 abnormal vertebral arch development anomalous formation of the posterior projection from the body of a vertebra that encloses the vertebral foramen MP:0005227 abnormal vertebral body development anomalous formation of the main portion of the vertebra anterior to the vertebral canal, and distinct from the vertebral arch MP:0005228 obsolete abnormal fusion of vertebral bodies/neural arches OBSOLETE. improper joining of the main portion of the vertebra anterior to the vertebral canal and the cartilaginous or bony arch that encloses and protects the spinal cord on the back MP:0005229 abnormal intervertebral disk development any anomaly in the formation of the cartilaginous and gelatinous structure found between vertebrae MP:0005230 ectrodactyly absence of the middle rays, i.e., the central digits; usually associated with cleft hands/feet and may also include syndactyly or aplasia of remaining digits MP:0005231 abnormal brachial lymph node morphology any structural anomaly of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes MP:0005232 abnormal mesenteric lymph node morphology any structural anomaly of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group MP:0005235 obsolete abnormal olfactory pathway morphology OBSOLETE. any structural anomaly of any of the set of nerve fibers conducting impulses from olfactory receptors to the cerebral cortex, including the olfactory nerve; olfactory bulb; olfactory tract, olfactory tubercle, anterior perforated substance, and olfactory cortex MP:0005236 abnormal olfactory nerve morphology any structural anomaly of the first cranial nerve, which conveys the sense of smell MP:0005237 abnormal olfactory tract morphology any structural anomaly of the nerve-like, white band composed primarily of nerve fibers originating from the mitral cells and tufted cells of the olfactory bulb, but also containing the scattered cells of the anterior olfactory nucleus MP:0005238 increased brain size larger than the normal physical proportions of the brain MP:0005239 abnormal Bruch membrane morphology any structural anomaly of the transparent, nearly structureless inner layer of the choroid in contact with the pigmented layer of the retina MP:0005240 abnormal amacrine cell morphology any structural anomaly of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer MP:0005241 abnormal retina ganglion layer morphology any structural anomaly of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain MP:0005242 cryptophthalmos congenital anomaly in which the skin is continuous over the eyeball without any indication of the formation of eyelids MP:0005243 hemothorax bleeding into the pleural space MP:0005244 hemopericardium bleeding into the pericardial space MP:0005245 hemarthrosis bleeding into a joint space MP:0005247 abnormal extraocular muscle morphology any structural anomaly of any of the striated muscles that are located within the orbit but are extrinsic and separate from the eyeball itself and control the movements of the eyeball and the superior eyelid; there are seven extraocular muscles: superior rectus, inferior rectus, medial rectus, lateral rectus, inferior oblique, superior oblique, and levator palpebrae superioris MP:0005248 abnormal Harderian gland morphology any structural anomaly of the retroocular sebaceous gland found within the orbit of mammals that possess a nictitating membrane (third eyelid); the chief products of the gland vary between different groups of vertebrates, and epithelial cells possess granules or vacuoles whose contents may be mucous, serous or lipid; in rodents, the Harderian gland is especially large and secretes lipids (by a merocrine mechanism), melatonin and porphyrins; ascribed functions include a role in lubrication and protection for the eyeball and nictitating membrane (by lipids), photoprotection (by porphyrin), photoreception (by regulation of the incidence of light on the retina), and thermoregulation (in some rodents) of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane MP:0005249 abnormal palatine bone morphology any structural anomaly of either of two irregularly L-shaped bones located posterior to the maxilla that in part forms the back of the hard palate, part of the nasal cavity and part of the floor of the orbits MP:0005250 decreased Sertoli cell number decreased number of the supporting cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis MP:0005251 blepharitis inflammation of the eyelids MP:0005252 abnormal Meibomian gland morphology any structural anomaly of the sebaceous glands embedded in the tarsal plate of each eyelid MP:0005253 abnormal eye physiology any functional anomaly and/or activity of the spheroid organ and optic nerve that serves to detect light MP:0005254 strabismus misalignment of the visual axes of the eyes MP:0005255 exotropia a form of ocular misalignment in which the lateral rectus muscle pulls the eye in an outward direction MP:0005256 esotropia a form of ocular misalignment in which there is excessive convergence of the visual axes, giving a cross-eyed appearance MP:0005257 abnormal intraocular pressure anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye MP:0005258 ocular hypertension abnormal elevation of the intraocular pressure MP:0005260 ocular hypotension abnormally low intraocular pressure MP:0005261 aniridia abnormality in which there is only a rudimentary iris, due to the failure of optic cup growth MP:0005262 coloboma anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation MP:0005263 obsolete ectopia lentis OBSOLETE. congenital displacement of the lens due to defective zonule formation MP:0005264 glomerulosclerosis hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes MP:0005265 abnormal blood urea nitrogen level aberrant circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function MP:0005266 abnormal metabolism any anomaly in the processes that cause many of the chemical changes in living organisms, including anabolism and catabolism; metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation MP:0005267 abnormal olfactory cortex morphology any structural anomaly of cortex area which receives its major afferents from the olfactory bulb, and is primarily responsible for the identification of odors MP:0005269 abnormal occipital bone morphology any structural anomaly of the bone at the lower, posterior part of the skull MP:0005270 abnormal zygomatic bone morphology any structural anomaly of the quadrilateral bone that forms the prominence of the cheek MP:0005271 abnormal lacrimal bone morphology any structural anomaly of the irregularly thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla MP:0005272 abnormal temporal bone morphology any structural anomaly of the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous MP:0005274 abnormal viscerocranium morphology any structural anomaly of the part of the skull that comprises the facial bones MP:0005275 abnormal skin tensile strength change from the normal maximum tension the skin can withstand without tearing MP:0005277 abnormal brainstem morphology any structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord MP:0005278 abnormal cholesterol homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of cholesterol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MP:0005279 narcolepsy recurring episodes of sleep during normal waking hours and often disrupted sleep during normal sleeping period; often accompanied by cataplexy, sleep paralysis and hallucinations MP:0005280 abnormal fatty acids level any anomaly in the concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated MP:0005281 increased fatty acids level elevated concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated MP:0005282 decreased fatty acids level reduction in the concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated MP:0005283 increased unsaturated fatty acids level elevated concentration of unsaturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; unsaturated fatty acids commonly have a chain of 4 to 28 carbons which possess one or more double or triple bonds between carbon atoms MP:0005284 increased saturated fatty acids level elevated concentration of saturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; saturated fatty acids commonly have a chain of 4 to 28 carbons which contains no ethylenic or other unsaturated linkages between carbon atoms MP:0005285 decreased unsaturated fatty acids level reduced concentration of unsaturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; unsaturated fatty acids commonly have a chain of 4 to 28 carbons which possess one or more double or triple bonds between carbon atoms MP:0005286 decreased saturated fatty acids level reduced concentration of saturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; saturated fatty acids commonly have a chain of 4 to 28 carbons which contains no ethylenic or other unsaturated linkages between carbon atoms MP:0005287 narrow eye opening less than the normal distance from one eyelid to the other without fusion of the eyelid margins MP:0005288 abnormal oxygen consumption deviation from the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body MP:0005289 increased oxygen consumption greater than the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body MP:0005290 decreased oxygen consumption less than the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body MP:0005291 abnormal glucose tolerance deviation from the normal response to oral consumption or intravenous injection of specified amounts of glucose; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals MP:0005292 improved glucose tolerance better than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin sensitivity; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals MP:0005293 impaired glucose tolerance less than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin resistance; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals MP:0005294 abnormal heart ventricle morphology any structural anomaly of one or both of the two lower chambers of the heart MP:0005296 abnormal humerus morphology any structural anomaly of the bone of the forelimb that articulates with the scapula above and the radius and ulna below MP:0005297 spina bifida occulta defective closure of the laminae of the vertebral column in the lumbosacral region without hernial protrusion of the spinal cord or meninges; the mildest, most common and often asymptomatic form of spina bifida, identified externally by a skin depression or dimple, dark tufts of hair, telangiectasis, or soft subcutaneous lipomas at the site of defect MP:0005298 abnormal clavicle morphology any structural anomaly of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula MP:0005299 abnormal eye posterior chamber morphology any structural anomaly of the ring-like space, filled with aqueous humor, between the iris/pupil anteriorly and the lens and ciliary body posteriorly MP:0005300 abnormal cornea stroma morphology any structural anomaly of the lamellated connective tissue of the cornea between the Bowman and Descemet membranes MP:0005301 abnormal cornea endothelium morphology any structural anomaly of the single layer of large flattened cells that cover the surface of the cornea MP:0005302 neurogenic bladder defective functioning of the bladder due to impaired innervation, either within the CNS or the PNS MP:0005304 bulbourethral gland cyst presence of one or more membrane-lined sacs containing gas, fluid, or semisolid matter in the bulbourethral gland MP:0005305 prostate gland anterior lobe hyperplasia increase in the number of normal cells in normal arrangement in the prostate gland anterior lobe, typically resulting in increased size MP:0005306 abnormal phalanx morphology any structural anomaly of any of the long bones of the digits MP:0005307 head tossing repetitive flailing of the head in multiple directions MP:0005308 abnormal circulating ammonia level aberrant amount of ammonia or its compounds in blood, formed in the body during organic decomposition MP:0005309 increased circulating ammonia level significantly elevated levels of ammonia or its compounds in blood; often associated with liver failure and hepatic encephalopathy MP:0005310 abnormal salivary gland physiology any functional anomaly of any of the glands in the mouth that secrete saliva MP:0005311 abnormal circulating amino acid level any anomaly in the amount in the blood of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group MP:0005312 pericardial effusion escape of fluid from blood vessels or lymphatic vessels into the fibrous sac surrounding the heart MP:0005313 absent adrenal gland absence of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla MP:0005314 absent thyroid gland lack of the endocrine gland that is normally located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin MP:0005315 absent pituitary gland lack of the gland that is normally suspended from the base of the hypothalamus and which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin MP:0005316 abnormal response to tactile stimuli anomaly in the reflex action normally induced by touch or pain MP:0005317 increased triglyceride level greater concentration of naturally occurring esters of three fatty acids and glycerol; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver MP:0005318 decreased triglyceride level reduced concentration of naturally occurring esters of three fatty acids and glycerol; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver MP:0005319 abnormal enzyme/coenzyme level altered level of any enzyme or their cofactors, that act as catalysts to induce chemical changes in other substances MP:0005320 abnormal biopterin level anomaly in the concentration of this pterin found in yeast, the fruit fly and in normal human urine, the reduced form of which acts as a coenzyme for many enzymatic reactions MP:0005321 abnormal neopterin level anomaly in the concentration of a pteridine derivative, which is present in body fluids and is a precursor in the biosynthesis of biopterin; elevated levels result from immune activation, malignant disease, allograft rejection, and viral infection MP:0005322 abnormal serotonin level anomaly in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity MP:0005323 dystonia impairment of muscle tone resulting in prolonged muscle contraction and involuntary movements such as repetitive movements, or twisting or writhing of the limbs MP:0005324 ascites accumulation or retention of fluid within the peritoneal cavity MP:0005325 abnormal renal glomerulus morphology any structural anomaly of the tuft formed of capillary loops and mesangium at the beginning of each nephretic tubule in the kidney that normally function as a filtration unit MP:0005326 abnormal podocyte morphology any structural anomaly of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane MP:0005327 abnormal mesangial cell morphology any structural anomaly of the modified smooth muscle cells that are interposed between endothelial cells and the basement membrane in the central or stalk region of the capillary tuft of the renal glomerulus, which regulate blood flow by their contractile activity, and secrete extracellular matrix, prostaglandins, and cytokines; mesangial cells also have phagocytic activity, removing proteins and other molecules trapped in the glomerular basement membrane or filtration barrier MP:0005328 abnormal circulating creatinine level anomaly in the blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction MP:0005329 abnormal myocardium layer morphology any structural anomaly of the middle layer of the heart, comprised mainly of striated cardiac muscle fibers MP:0005330 cardiomyopathy diseases of the heart (myocardium); may result from many causes MP:0005331 insulin resistance diminished effectiveness of insulin in lowering plasma glucose levels MP:0005332 abnormal amino acid level any anomaly in the amount of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group MP:0005333 decreased heart rate fewer than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute MP:0005334 abnormal fat pad morphology any structural anomaly of the encapsulated adipose tissue MP:0005335 abnormal gonadal fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the ovaries or testes MP:0005336 abnormal inguinal fat pad morphology any structural anomaly of the encapsulated adipose tissue found in the groin MP:0005337 abnormal retroperitoneal fat pad morphology any structural anomaly of the encapsulated adipose tissue found on the dorsal side of the peritoneum MP:0005338 atherosclerotic lesions thickening and loss of elasticity of arterial walls, involving plaque-like lipid deposition and thickening of intimal layers within arteries; progresses to narrowing of arterial lumens with fibrosis and calcification resulting in restriction of blood flow MP:0005339 increased susceptibility to atherosclerosis more likely than normal to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries MP:0005340 abnormal susceptibility to atherosclerosis a change in the likelihood that an organism will develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries MP:0005341 decreased susceptibility to atherosclerosis less likely than normal to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries MP:0005342 abnormal intestinal lipid absorption any anomaly in the ability of the body to take up lipids into the blood by absorption from the small intestine MP:0005343 increased circulating aspartate transaminase level greater than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction MP:0005344 increased circulating bilirubin level increased concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells MP:0005345 abnormal circulating corticosterone level anomaly in the amount of the adrenocortical steroid in the blood that induces glycogen deposition and regulates sodium conservation and potassium secretion MP:0005346 abnormal circulating aldosterone level anomaly in the blood concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule MP:0005348 increased T cell proliferation increase in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli MP:0005349 obsolete abnormal interleukin-6 physiology OBSOLETE. functional anomaly of this soluble factor produced by B- and T-cells, with effects on T- and B-cell growth and differentiation, and in acute phase reactions MP:0005350 increased susceptibility to autoimmune disorder greater likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides MP:0005351 decreased susceptibility to autoimmune disorder reduced likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides MP:0005352 small cranium reduced size of the cranium MP:0005353 abnormal patella morphology any structural anomaly of the large sesamoid bone that covers the anterior surface of the knee MP:0005354 abnormal ilium morphology any structural anomaly of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis MP:0005355 enlarged thyroid gland increased size of the endocrine gland located in the front and to the sides of the upper part of the trachea, and which secretes thyroid hormone and calcitonin MP:0005356 positive geotaxis mice, when placed on a downward on a slanting grid, walk down without turning around, or exhibit a delay in turning around, whereas wild type mice will always turn around and walk upward MP:0005357 novel environmental response-related retropulsion when confronted with a novel stimulus, subjects exhibit involuntary backward walking MP:0005358 abnormal incisor morphology any structural anomaly of the long teeth, normally consisting of two pairs, top and bottom, that are the most anterior and prominent in the jaw MP:0005359 growth retardation of incisors developmental delay of the growth of the incisors, the long pointed teeth, most anterior and prominent in the jaw MP:0005360 urolithiasis presence of calculi in any part of the urinary system MP:0005361 small pituitary gland reduced size of the pituitary gland, the compound gland suspended from the base of the hypothalamus MP:0005362 abnormal Langerhans cell physiology atypical or failure of normal function of the stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus MP:0005363 decreased susceptibility to prion infection reduced likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is a major and necessary component MP:0005364 increased susceptibility to prion infection increased likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is a major and necessary component MP:0005365 abnormal bile salt homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats MP:0005366 variegated coat color an irregular and random patchwork of two or more colors in the coat MP:0005367 renal/urinary system phenotype the observable morphological and physiological characteristics of any of the organs or tissues responsible for fluid volume regulation, regulating electrolytes, maintaining acid-base homeostasis, and elimination of water and water soluble waste products in a mammalian organism that are manifested through development and lifespan MP:0005369 muscle phenotype the observable morphological and physiological characteristics of the mammalian tissue composed of contractile cells or fibers that effects movement of an organ or part of the body that are manifested through development and lifespan MP:0005370 liver/biliary system phenotype the observable morphological and physiological characteristics of the mammalian liver, gall bladder, or bile ducts that are manifested through development and lifespan MP:0005371 limbs/digits/tail phenotype the observable morphological and physiological characteristics of the subdivision of a mammalian organism that protrudes from the body that are manifested through development and lifespan MP:0005375 adipose tissue phenotype the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan MP:0005376 homeostasis/metabolism phenotype the observable morphological and physiological characteristics related to a state of equilibrium in the body with respect to various functions and to chemical composition of the fluids and tissues or the processes that cause many of the chemical changes in living mammalian organisms that are manifested through development and lifespan MP:0005377 hearing/vestibular/ear phenotype the observable morphological and physiological characteristics of mammalian system responsible for the perception of spatial orientation and auditory stimuli that are manifested through development and lifespan MP:0005378 growth/size/body region phenotype the observable morphological and physiological characteristics related to the overall or change in physical magnitude or an anatomical structure which is a subpart of the whole organism manifested in a mammalian organism through development and lifespan MP:0005379 endocrine/exocrine gland phenotype the observable morphological and physiological characteristics of an organ that functions as a secretory or excretory organ in a mammalian organism that are manifested through development and lifespan MP:0005380 embryo phenotype the observable morphological and physiological characteristics of the manifested in a mammalian organism before birth, including embryonic and fetal stages and embryonic and extraembryonic tissues MP:0005381 digestive/alimentary phenotype the observable morphological and physiological characteristics of the mammalian system dedicated to the mechanical, chemical, and enzymatic processing of food that are manifested through development and lifespan MP:0005382 craniofacial phenotype the observable morphological and physiological characteristics of the face or head of a mammalian organism that are manifested through development and lifespan MP:0005384 cellular phenotype the observable morphological and physiological characteristics of the basic structural and functional unit of all mammalian organisms that are manifested through development and lifespan MP:0005385 cardiovascular system phenotype the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan MP:0005386 behavior/neurological phenotype the observable actions or reactions of mammalian organisms that are manifested through development and lifespan MP:0005387 immune system phenotype the observable morphological and physiological characteristics of the mammalian system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies that are manifested through development and lifespan MP:0005388 respiratory system phenotype the observable morphological and physiological characteristics of the mammalian system responsible for the exchange of oxygen and carbon dioxide with the environment that are manifested through development and lifespan MP:0005389 reproductive system phenotype the observable morphological and physiological characteristics of the mammalian organs associated with producing offspring that are manifested through development and lifespan MP:0005390 skeleton phenotype the observable morphological and physiological characteristics of the bone, cartilage, teeth, tendons, ligaments and other associated tissues of the bony framework ot the body of a mammalian organism that are manifested through development and lifespan MP:0005391 vision/eye phenotype the observable morphological and physiological characteristics of the mammalian spheroid organ and optic nerve that serve to detect light that are manifested through development and lifespan MP:0005394 taste/olfaction phenotype the observable morphological and physiological characteristics of the organs involved in and perception of taste and smell in a mammalian organism that are manifested through development and lifespan MP:0005395 obsolete other phenotype MP:0005397 hematopoietic system phenotype the observable morphological and physiological characteristics of the mammalian blood cells or the organs associated with the development and formation of blood cells that are manifested through development and lifespan MP:0005398 decreased susceptibility to fungal infection reduced likelihood that an organism will develop ill effects from infection by a yeast or mold, or from components of, or toxins produced by, these organisms MP:0005399 increased susceptibility to fungal infection greater likelihood that an organism will develop ill effects from infection by a yeast or mold, or from components of, or toxins produced by, these organisms MP:0005400 abnormal vitamin level any anomaly in the concentration of any of the organic substances found in food that are necessary in trace amounts for normal metabolic function MP:0005401 abnormal fat-soluble vitamin level any anomaly in the concentration of any of the organic substances found in food that are necessary in trace amounts for normal metabolic function and which require the presence of lipids for assimilation in the body MP:0005402 abnormal action potential change in the electric response of a nerve or other excitable tissue to its stimulation MP:0005403 abnormal nerve conduction anomaly in the act of transmitting electricity along a single nerve MP:0005404 abnormal axon morphology any structural anomaly of the single process of a nerve cell that normally conducts impulses away from the cell body MP:0005405 axon degeneration retrogressive pathologic change in the single process of a nerve cell MP:0005406 abnormal heart size change from normal in the physical magnitude of the cardiac muscle or any of its component structures MP:0005407 hyperalgesia increased sensitivity to painful stimuli; can be due to inflammatory response or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area) MP:0005408 hypopigmentation dilution of pigment in any or all tissues or a part of a tissue MP:0005409 darkened coat color amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is decreased when compared to wild-type agouti MP:0005410 abnormal fertilization anomaly in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei MP:0005411 delayed fertilization a lag in the normal time of onset of the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei MP:0005412 vascular stenosis abnormal narrowing or constriction of the lumen of one or more blood vessels MP:0005413 vascular restenosis recurrence of a narrowing or constriction of a blood vessel following surgical or mechanical removal or reduction of a previous narrowing MP:0005414 extrahepatic cholestasis impairment of bile flow in the large bile ducts by mechanical obstruction or stricture due to benign or malignant process MP:0005415 intrahepatic cholestasis impairment of bile flow due to injury to the hepatocytes, bile canaliculi, or the intrahepatic bile ducts MP:0005416 abnormal circulating protein level anomaly in the amount in the blood of any of the macromolecules consisting of long chains of amino acids in peptide linkage MP:0005418 abnormal circulating hormone level any anomaly in the blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs; originally applied to substances secreted by various endocrine glands and transported in the bloodstream to the target organs, it is sometimes extended to include substances that are not produced by the endocrine glands but that have similar effects MP:0005419 decreased circulating serum albumin level blood serum albumin concentration below the normal range MP:0005421 loose skin condition in which the skin hangs in folds MP:0005422 osteosclerosis abnormal hardening or eburnation (change in exposed subchondral bone in degenerative joint disease in which bone is converted into a dense substance with a smooth surface) of bone MP:0005423 abnormal somatic nervous system physiology any functional anomaly of the part of the peripheral nervous system that is responsible for conveying voluntary motor and external sensory information, including all nerves controlling the skeletal muscular system and external sensory receptors (including balance, smell, sight, taste, touch and hearing sensory inputs) MP:0005424 jerky movement continuous, abrupt, faltering motions of the whole body or a portion of the body MP:0005425 increased macrophage cell number greater than the normal numbers of macrophages MP:0005426 tachypnea rapid breathing MP:0005428 obsolete abnormal clinical chemistry OBSOLETE. any anomaly in the laboratory tests that show the presence of physiologically significant substances in the blood, urine, tissue, and body fluids with application to the diagnosis or therapy of disease MP:0005429 obsolete abnormal pine bedding color after urinary excretion OBSOLETE. with normal urine coloration, a change in the hue of the pine bedding of a mouse, often to a bright yellow or chartreuse, after excretion of urine by the animal housed with this type of bedding; indicative of a metabolic defect MP:0005430 absent fibula absence of the lateral and shorter of the two bones of the lower leg MP:0005431 decreased oocyte number reduced numbers of germ cells in the female MP:0005432 abnormal pro-B cell morphology any structural anomaly of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs MP:0005433 absent early pro-B cells absence of cells in the B lymphocyte lineage that undergo D-J rearrangement of the immunoglobulin heavy chain MP:0005434 absent late pro-B cells absence of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain MP:0005435 hemoperitoneum blood in the peritoneal cavity MP:0005437 abnormal glycogen level any anomaly in the concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle MP:0005438 abnormal glycogen homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of glycogen, a readily converted carbohydrate reserve found in most tissues of the body, especially liver and muscle MP:0005439 decreased glycogen level less than the normal concentration of a readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle MP:0005440 increased glycogen level greater than the normal concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle MP:0005441 increased urine calcium level abnormally large amounts of calcium in the urine MP:0005442 obsolete abnormal pyramidal neuron morphology OBSOLETE. any structural anomaly of the projection neurons in the cerebral cortex and hippocampus MP:0005443 abnormal ethanol metabolism altered ability to metabolize the clear, colorless liquid that has formula C2H6O MP:0005444 abnormal retinol metabolism altered ability to metabolize retinol, which plays an essential role in metabolic functioning of the retina, and growth of and differentiation MP:0005445 abnormal neurotransmitter secretion anomaly in the production or release of endogenous signaling molecules into a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell MP:0005446 abnormal synaptic epinephrine release aberrant secretion across synapses of the active sympathomimetic hormone that stimulates both the alpha- and beta- adrenergic systems, causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels MP:0005447 abnormal synaptic norepinephrine release aberrant secretion across synapses of this widespread central and autonomic neurotransmitter, the principal transmitter of most postganglionic sympathetic fibers and of the diffuse projection system in the brain arising from the locus ceruleus MP:0005448 abnormal energy homeostasis any anomaly in the process involved in the balance between food intake (energy input) and energy expenditure MP:0005449 abnormal food intake any anomaly in the total number of calories/food amount taken in over time when compared to the normal state MP:0005450 abnormal energy expenditure utilization of calories that differs from normal MP:0005451 abnormal body composition aberrant relative amount and distribution of bone, body fat, muscle or lean tissue mass MP:0005452 abnormal adipose tissue amount more or less than the normal total amount of connective tissue composed of fat cells MP:0005455 increased susceptibility to weight gain greater increase in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake MP:0005456 obsolete weight gain OBSOLETE. increase in weight over existing weight MP:0005457 abnormal percent body fat/body weight more or less fat, relative to controls, expressed as a percentage of total body weight MP:0005458 increased percent body fat/body weight more fat, relative to controls, expressed as a percentage of total body weight MP:0005459 decreased percent body fat/body weight less fat, relative to controls, expressed as a percentage of total body weight MP:0005460 abnormal leukopoiesis any anomaly in the process of generating white blood cells (leukocytes) from the pluripotent hematopoietic stem cells of the bone marrow; two significant pathways generate various types of leukocytes: myelopoiesis, in which leukocytes in the blood are derived from myeloid stem cells, and lymphopoiesis, in which leukocytes of the lymphatic system (lymphocytes) are generated from lymphoid stem cells MP:0005461 abnormal dendritic cell morphology any structural anomaly of a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation MP:0005462 abnormal mast cell differentiation atypical production of or inability to produce a cell that is found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation MP:0005463 abnormal CD4-positive, alpha-beta T cell physiology any functional anomaly of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production MP:0005464 abnormal platelet physiology any functional anomaly of the non-nucleated cells found in the blood and involved in blood coagulation MP:0005465 abnormal T-helper 1 physiology abnormal function of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity MP:0005466 abnormal T-helper 2 physiology abnormal function of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy MP:0005467 obsolete abnormal chemotactic leukotriene physiology OBSOLETE. functional anomaly of any of a subset of leukotrienes that are involved in attracting leukocytes to a site of tissue injury MP:0005468 abnormal thyroid hormone level aberrant concentration of any of the hormones secreted by the thyroid gland MP:0005469 abnormal thyroxine level any anomaly in the concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism MP:0005470 increased thyroxine level greater than the normal concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism MP:0005471 decreased thyroxine level less than the normal concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism MP:0005472 abnormal triiodothyronine level anomaly in the amount of a thyroid hormone that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland MP:0005473 decreased triiodothyronine level reduced amount of a thyroid hormone that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland MP:0005474 increased triiodothyronine level greater amount of a thyroid hormone that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland MP:0005475 abnormal circulating thyroxine level anomaly in the blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism MP:0005476 abnormal circulating triiodothyronine level anomaly in the amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland MP:0005477 increased circulating thyroxine level greater than the normal blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism MP:0005478 decreased circulating thyroxine level reduction in the normal blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism MP:0005479 decreased circulating triiodothyronine level reduced amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland MP:0005480 increased circulating triiodothyronine level greater amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland MP:0005481 increased chronic myelocytic leukemia incidence higher than normal incidence of a heterogeneous group of myeloproliferative disorders that may evolve into acute leukemia in late stages MP:0005482 obsolete cellular hypertrophy OBSOLETE. increased size or bulk of a cell, without accompanying increased numbers MP:0005483 obsolete cellular hyperplasia OBSOLETE. an increase in the number of cells in an organ or tissue MP:0005485 obsolete cellular dysplasia OBSOLETE. change in the size, shape, and organization of the cellular components of a tissue MP:0005486 obsolete cellular metaplasia OBSOLETE. conversion of one differentiated cell type to another MP:0005487 obsolete cellular hypoplasia OBSOLETE. a decrease in the number of cells in an organ or tissue MP:0005488 bronchial epithelial hyperplasia increase in the number of normal cells in normal arrangement in the bronchial epithelium, typically resulting in increased size MP:0005489 vascular smooth muscle hyperplasia increase in the number of normal cells in normal arrangement in the vascular smooth muscle, typically resulting in increased size MP:0005490 increased club cell number increased numbers of the rounded, club-shaped, nonciliated cells found between ciliated cells in bronchiolar epithelium MP:0005491 pancreatic islet hyperplasia increase in the number of normal cells in normal arrangement in the pancreatic islets, typically resulting in increased size MP:0005492 exocrine pancreas hypoplasia decrease in the number of normal cells in normal arrangement in the exocrine pancreas, typically resulting in decreased size MP:0005493 stomach epithelial hyperplasia increase in the number of normal cells in normal arrangement in the stomach epithelium, typically resulting in increased size MP:0005494 esophagogastric junction metaplasia conversion of one differentiated cell type to another differentiated cell type at the terminal end of the esophagus and beginning of the stomach MP:0005497 optic nerve cupping concave shape of the nerve often as a result of the force of pressure from glaucoma MP:0005498 hyporesponsive to tactile stimuli reduced reflex action normally induced by touch or pain MP:0005499 abnormal olfactory system morphology any structural anomaly of the organs involved in smell MP:0005500 abnormal gustatory system morphology any structural anomaly of the organs involved in taste MP:0005501 abnormal skin physiology any functional anomaly of the membranous protective covering of the body MP:0005502 abnormal renal/urinary system physiology any functional anomaly of any of the organs or tissues responsible for fluid volume regulation, regulating electrolytes, maintaining acid-base homeostasis, and elimination of water and water soluble waste products in an organism MP:0005503 abnormal tendon morphology any structural anomaly of the fibrous bands or cords of connective tissue at the ends of muscle fibers that attach muscles to bones and other structures MP:0005504 abnormal ligament morphology any structural anomaly of the flexible bands of fibrous tissue that connect the articular extremities of bones MP:0005505 thrombocytosis greater than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation MP:0005506 obsolete abnormal limbs/digits/tail physiology OBSOLETE. functional anomaly of the digits, paws, limbs, or tail MP:0005507 tail dragging pulling the tail along with difficulty or effort; may be due to paralysis or weakness MP:0005508 abnormal skeleton morphology any structural anomaly of the bony framework of the body in vertebrates MP:0005515 uveitis inflammation of part or all of the uvea, the middle (vascular) tunic of the eye, and commonly involving the other tunics (sclera and cornea, and the retina) MP:0005516 enhanced liver regeneration increase in the renewal, repair, and/or regrowth of liver tissue following injury or disease MP:0005517 impaired liver regeneration decrease in the renewal, repair, and/or regrowth of liver tissue following injury or disease MP:0005518 abnormal pancreas regeneration anomaly in the renewal, repair, and/or regrowth of pancreatic tissue following injury or disease MP:0005519 enhanced pancreas regeneration increase in the renewal, repair, and/or regrowth of pancreatic tissue following injury or disease MP:0005520 impaired pancreas regeneration decrease in the renewal, repair, and/or regrowth of pancreatic tissue following injury or disease MP:0005521 abnormal circulating atrial natriuretic factor level deviation from the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator MP:0005522 increased circulating atrial natriuretic factor greater than the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator MP:0005523 decreased circulating atrial natriuretic factor less than the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator MP:0005524 abnormal renal plasma flow rate deviation from the normal volume of plasma passing through the kidney per unit time MP:0005525 increased renal plasma flow rate greater than the normal volume of plasma passing through the kidney per unit time MP:0005526 decreased renal plasma flow rate less than the normal volume of plasma passing through the kidney per unit time MP:0005527 increased renal glomerular filtration rate greater than the normal volume of water filtered out of the plasma through glomerular capillary walls into the Bowman's capsule per unit time MP:0005528 decreased renal glomerular filtration rate less than the normal volume of water filtered out of the plasma through glomerular capillary walls into the Bowman's capsule per unit time MP:0005529 abnormal renal vascular resistance deviation from the normal force opposing blood flow in the kidney blood vessels MP:0005530 decreased renal vascular resistance less than the normal force opposing blood flow in the kidney blood vessels MP:0005531 increased renal vascular resistance greater than the normal force opposing blood flow in the kidney blood vessels MP:0005532 abnormal vascular resistance deviation from the normal force opposing the flow of blood through a vascular bed; it is equal to the difference in blood pressure across the vascular bed divided by the cardiac output MP:0005533 increased body temperature greater than the level of heat natural to a living being MP:0005534 decreased body temperature less than the level of heat natural to a living being MP:0005535 abnormal body temperature deviation in the level of heat natural to a living being MP:0005536 decreased Leydig cell number decreased number of the interstitial cells found adjacent to the seminiferous tubules in the testicle that produce testosterone in the presence of luteinizing hormone MP:0005537 abnormal cerebral aqueduct morphology any structural anomaly of the channel in the mesencephalon that connects the third and fourth ventricles MP:0005540 decreased urine albumin level less than the normal amount of albumin in the urine MP:0005541 abnormal iris stromal pigmentation any anomaly in the coloring of the framework of the iris MP:0005542 cornea vascularization formation of blood vessels in the cornea, which normally lacks vessels MP:0005543 decreased cornea thickness decreased thickness of the cornea, the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure MP:0005544 cornea deposits accumulation of minerals, proteins, or other anomalous substances on the cornea MP:0005545 abnormal lens development aberrant formation of the transparent structure of the eye responsible for focusing light rays MP:0005546 choroidal neovascularization new, abnormal, vessel development of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera MP:0005547 abnormal Muller cell morphology any structural anomaly of the elongated neuroglial cells that traverse all the layers of the retina and that act as supporting elements MP:0005548 retina pigment epithelium atrophy acquired diminution of the size of the epithelial layer of the retina composed of cells containing pigment granules, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0005549 retina pigment epithelium hyperplasia increase in the number of normal cells in normal arrangement in the retinal pigment epithelium, typically resulting in increased size MP:0005550 obsolete orbital hemorrhage OBSOLETE. escape of blood into the orbit MP:0005551 abnormal eye electrophysiology any functional anomaly of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram) MP:0005552 obsolete abnormal orbital bone morphology OBSOLETE. structural anomaly of the bony cavity that contains the eyeball and is formed by parts of eight bones in the mouse: maxilla, lacrimal, zygomatic, frontal, temporal, sphenoid, ethmoid, palatine MP:0005553 increased circulating creatinine level greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction MP:0005554 decreased circulating creatinine level less than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction MP:0005556 abnormal renal filtration rate altered ability of the kidneys to remove substances from the plasma for excretion in a specific period of time MP:0005557 increased creatinine clearance increased rate of the process in which creatine is removed from the blood via renal filtration and its constituent parts degraded MP:0005558 decreased creatinine clearance decreased rate of the process in which creatine is removed from the blood via renal filtration and its constituent parts degraded MP:0005559 increased circulating glucose level greater than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source MP:0005560 decreased circulating glucose level less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source MP:0005561 increased mean corpuscular hemoglobin greater than the average levels of hemoglobin contained in an erythrocyte MP:0005562 decreased mean corpuscular hemoglobin less than the average levels of hemoglobin contained in an erythrocyte MP:0005563 abnormal hemoglobin content deviation from the normal total hemoglobin content in the circulating blood MP:0005564 increased hemoglobin content increase in the total hemoglobin content in the circulating blood MP:0005565 increased blood urea nitrogen level high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function MP:0005566 decreased blood urea nitrogen level low circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function MP:0005567 decreased circulating total protein level total circulating protein level below the normal range MP:0005568 increased circulating total protein level total circulating protein level above the normal range MP:0005571 decreased lactate dehydrogenase level reduced level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate MP:0005572 abnormal pulmonary respiratory rate deviation from the normal number of breaths per minute MP:0005573 increased pulmonary respiratory rate greater than the normal number of breaths per minute MP:0005574 decreased pulmonary respiratory rate fewer than the normal number of breaths per minute MP:0005575 increased pulmonary ventilation increase in the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment MP:0005576 decreased pulmonary ventilation reduction in the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment MP:0005577 uterus prolapse downward movement, and possible external appearance, of the uterus through the vagina MP:0005578 teratozoospermia presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends MP:0005579 absent outer ear absence of the auricles or external acoustic meatus MP:0005580 periinsulitis an accumulation of macrophages, dendritic cells, and B and T lymphocytes in the periductal areas of the pancreas but outside the islet cell areas; often occurs prior to intra-insulitis of the islet cell areas MP:0005581 abnormal renin activity altered ability of this enzyme to cleave angiotensionogen and create angiotensin I MP:0005582 increased renin activity greater than the normal ability of this enzyme to cleave angiotensionogen and create angiotensin I MP:0005583 decreased renin activity less than the normal ability of this enzyme to cleave angiotensionogen and create angiotensin I MP:0005584 abnormal enzyme/coenzyme activity altered ability of any enzyme or their cofactors, to act as catalysts to induce chemical changes in other substances MP:0005585 increased tidal volume greater than the normal volume of air inspired or expired during each normal respiratory cycle MP:0005586 decreased tidal volume less than the normal volume of air inspired or expired during each normal respiratory cycle MP:0005587 abnormal Meckel's cartilage morphology any structural anomaly of this cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible; gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments MP:0005590 increased vasodilation greater than the expected or normal widening of the lumen of the blood vessels MP:0005591 decreased vasodilation less than the expected or normal widening of the lumen of the blood vessels MP:0005592 abnormal vascular smooth muscle morphology any structural anomaly of the nonstriated, involuntary muscle tissue of the blood vessels MP:0005595 abnormal vascular smooth muscle physiology any functional anomaly of the nonstriated, involuntary muscle tissue of the blood vessels MP:0005596 increased susceptibility to type I hypersensitivity reaction greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks MP:0005597 decreased susceptibility to type I hypersensitivity reaction less likelihood or resistance to developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks MP:0005598 decreased ventricle muscle contractility reduced ability of the heart ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume MP:0005599 increased cardiac muscle contractility greater than the normal ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume MP:0005600 increased ventricle muscle contractility greater than the normal ability of the heart ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume MP:0005601 increased angiogenesis enhanced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network MP:0005602 decreased angiogenesis reduced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network MP:0005603 neuron hypertrophy increased size of any of the structural and functional units of the nervous system, which consist of the nerve cell body, the dendrites, and the axon MP:0005604 hyperekplexia disorder characterized by pathologic startle responses, protective reactions to unanticipated, potentially threatening, stimuli of any type, particularly auditory MP:0005605 increased bone mass an increase in the total amount of bone tissue contained in the skeleton MP:0005606 increased bleeding time greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function MP:0005607 decreased bleeding time less than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function MP:0005608 cardiac interstitial fibrosis formation of fibrous tissue within the interstices of the heart as a result of repair or a reactive process MP:0005609 abnormal circulating antidiuretic hormone level deviation from the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle MP:0005610 increased circulating antidiuretic hormone level greater than the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle MP:0005611 decreased circulating antidiuretic hormone level less than the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle MP:0005612 decreased susceptibility to type II hypersensitivity reaction less likelihood of or resistance to developing a response caused by an Ag-Ab reaction; antibodies are directly or indirectly cytotoxic to antigens on cell surfaces or in connective tissues; most often involves IgG and IgM; complement activation is usually involved MP:0005613 increased susceptibility to type II hypersensitivity reaction greater likelihood or resistance to developing a response caused by an Ag-Ab reaction; antibodies are directly or indirectly cytotoxic to antigens on cell surfaces or in connective tissues; most often involves IgG and IgM; complement activation is usually involved MP:0005614 decreased susceptibility to type III hypersensitivity reaction less likelihood of or resistance to developing tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via Abs encountering circulating Ag; Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury MP:0005615 increased susceptibility to type III hypersensitivity reaction greater likelihood of developing tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via antibodies encountering circulating antigen; Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury MP:0005616 decreased susceptibility to type IV hypersensitivity reaction less likelihood of or resistance to developing an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact MP:0005617 increased susceptibility to type IV hypersensitivity reaction greater likelihood of developing an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact MP:0005618 decreased urine potassium level less than the normal amount of potassium in the urine MP:0005619 increased urine potassium level greater than normal amount of potassium in the urine MP:0005620 abnormal muscle contractility aberrant ability of a muscle to shorten or to develop increased tension MP:0005621 abnormal cell physiology any functional anomaly of the vital processes of the cell MP:0005623 abnormal meninges morphology any structural anomaly in any of the membranes covering the spinal cord and brain, including the dura mater (external), arachnoid (middle), and pia mater (internal) MP:0005624 abnormal plasma anion gap measurement of the interval between the sum of routinely measured cations minus the sum of the routinely measured anions in the blood; the anion gap = (Na+ + K+) - (Cl- + HCO3-) where Na- is sodium, K+ is potassium, Cl- is chloride, and HCO3- is bicarbonate MP:0005625 increased plasma anion gap greater than the normal interval between the sum of routinely measured cations minus the sum of the routinely measured anions in the blood; the anion gap = (Na+ + K+) - (Cl- + HCO3-) where Na- is sodium, K+ is potassium, Cl- is chloride, and HCO3- is bicarbonate; high anion gap is indicative of metabolic acidosis MP:0005626 decreased plasma anion gap less than the normal interval between the sum of routinely measured cations minus the sum of the routinely measured anions in the blood; the anion gap = (Na+ + K+) - (Cl- + HCO3-) where Na- is sodium, K+ is potassium, Cl- is chloride, and HCO3- is bicarbonate; low anion gap is relatively rare but may occur from the presence of abnormal positively charged proteins, as in multiple myeloma MP:0005627 increased circulating potassium level greater than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle MP:0005628 decreased circulating potassium level less than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle MP:0005629 abnormal lung weight anomaly in the average weight of the lung MP:0005630 increased lung weight greater than average weight of the lung MP:0005631 decreased lung weight reduced average weight of the lung MP:0005632 decreased circulating aspartate transaminase level less than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction MP:0005633 increased circulating sodium level greater than the normal concentration in the blood of this metallic element, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume MP:0005634 decreased circulating sodium level less than the normal concentration in the blood of this metallic element, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume MP:0005635 decreased circulating bilirubin level reduced concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells MP:0005636 abnormal mineral homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of inorganic substances that have importance in body functions MP:0005637 abnormal iron homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of iron that normally is a cofactor in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes MP:0005638 hemochromatosis disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary MP:0005639 hemosiderosis condition in which there is a generalized increase in the iron stores of body tissues, particularly of liver and the reticuloendothelial system, without demonstrable tissue damage MP:0005640 abnormal mean corpuscular hemoglobin concentration deviation from the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices MP:0005641 increased mean corpuscular hemoglobin concentration greater than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices MP:0005642 decreased mean corpuscular hemoglobin concentration less than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices MP:0005643 decreased dopamine level less than the normal amount of this catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary MP:0005644 agonadal denoting the absence of gonads MP:0005645 abnormal hypothalamus physiology any functional anomaly of the ventral and medial region of the diencephalon forming the walls of the ventral half of the third ventricle, which is normally involved in the functions of the autonomic (visceral motor) nervous system and, through its vascular link with the anterior lobe of the pituitary gland, in endocrine mechanisms MP:0005646 abnormal pituitary gland physiology any functional anomaly of this unpaired compound gland suspended from the base of the hypothalamus by a short extension of the infundibulum, the infundibular or pituitary stalk MP:0005647 abnormal sex gland physiology any functional anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction MP:0005648 heart right ventricle degeneration replacement of cardiomyocytes in the right ventricle with fibrous tissue and/or fat MP:0005649 increased spleen neoplasm incidence greater than the expected number of a neoplasm of the spleen, occurring in a specific population in a given time period MP:0005650 abnormal limb bud morphology any structural anomaly of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs MP:0005651 abnormal gonad rudiment morphology any structural anomaly of the undifferentiated mesoderm that gives rise to the gonads MP:0005652 sex reversal development of the reproductive system is inconsistent with the chromosomal sex MP:0005653 phototoxicity condition caused by overexposure to UV light or from the combination of exposure to specific wavelengths and a phototoxic substance MP:0005654 porphyria acquired or inherited group of disorders characterized by excessive production of porphyrins or their precursors; if acquired, it results from inhibition of enzymes in the heme metabolic pathway by drugs, toxins or abnormal metabolites MP:0005655 increased aggression when compared to controls, subjects exhibit greater than the normal level of domineering, assault posture and/or hostile physical action MP:0005656 decreased aggression when compared to controls, subjects exhibit less than the normal level of domineering, assault posture and/or hostile physical action MP:0005657 abnormal neural plate morphology any structural anomaly of the flat, thickened layer of ectodermal cells in the neuroectodermal area of the embryo's dorsal surface that develops into the neural tube and neural crest MP:0005658 increased susceptibility to diet-induced obesity more likely to become excessively overweight or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat MP:0005659 decreased susceptibility to diet-induced obesity less likely to become excessively overweight or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat MP:0005660 abnormal circulating adrenaline level aberrant concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels MP:0005661 decreased circulating adrenaline level less than the normal concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels MP:0005662 increased circulating adrenaline level greater than the normal concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels MP:0005663 abnormal circulating noradrenaline level aberrant blood amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine MP:0005664 decreased circulating noradrenaline level less than the normal blood amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine MP:0005665 increased circulating noradrenaline level greater than the normal blood amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine MP:0005666 abnormal adipose tissue physiology any functional anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue MP:0005667 abnormal circulating leptin level anomaly in the blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance MP:0005668 decreased circulating leptin level less than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance MP:0005669 increased circulating leptin level greater than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance MP:0005670 abnormal white adipose tissue physiology any functional anomaly in the connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels MP:0005671 abnormal response to transplant anomaly in the body's reaction to the grafting of organs, tissues, or cells taken from the same individual for another area of the body or from another individual MP:0005672 increased susceptibility to graft versus host disease greater likelihood of developing clinical symptoms of anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the a graft versus host reaction, which is an immunological attack mounted by a graft against the host because of tissue incompatibility when immunologically competent cells are transplanted to an immunologically incompetent host MP:0005673 decreased susceptibility to graft versus host disease less likelihood of developing clinical symptoms of anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the a graft versus host reaction, which is an immunological attack mounted by a graft against the host because of tissue incompatibility when immunologically competent cells are transplanted to an immunologically incompetent host MP:0005675 small gallbladder reduced size of the gall bladder, the organ that serves as a storage reservoir for bile MP:0006000 abnormal cornea epithelium morphology any structural anomaly of the smooth stratified squamous epithelium that covers the outer surface of the cornea MP:0006001 abnormal intestinal transit time increase or decrease in the time it takes for a bolus of material to pass through the intestine MP:0006002 abnormal small intestinal transit time increase or decrease in the time it takes for a bolus of material to pass through the small intestine MP:0006003 abnormal large intestinal transit time increase or decrease in the time it takes for a bolus of material to pass through the large intestine MP:0006004 obsolete abnormal interneuron morphology OBSOLETE. any structural anomaly of neurons that exclusively interact with other neurons MP:0006005 obsolete decreased interneuron number OBSOLETE. fewer than normal number of neurons that interact only with other neurons MP:0006006 increased sensory neuron number greater than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses MP:0006007 abnormal basal ganglion morphology any structural anomaly of any of a group of nuclei associated with the ability to carry out willed movements, including the caudate, putamen, nucleus accumbens, globus pallidus, substantia nigra, and subthalamic nucleus MP:0006009 abnormal neuronal migration any anomaly in the movement of immature neurons from germinal zones to specific positions where they will reside as they mature MP:0006010 absent strial intermediate cells absence of the melanocytes (i.e. crest-derived intermediate cells) normally located within the intrastrial space; loss of strial intermediate cells is known to lead to loss of the endocochlear potential MP:0006011 abnormal endolymphatic duct morphology any structural anomaly of the small membranous canal, connecting with both saccule and utricle of the membranous labyrinth, passing through the aqueduct of vestibule, and terminating in the endolymphatic sac MP:0006012 dilated endolymphatic duct stretched or widened aperture of the luminal space of the endolymphatic duct MP:0006013 absent endolymphatic sac absence of the dilated blind extremity of the endolymphatic duct, which lies external to the dura on the posterior aspect of the petrous part of the temporal bone MP:0006014 dilated endolymphatic sac stretched or widened aperture of the luminal space of the endolymphatic sac MP:0006015 dilated lateral semicircular canal stretched or widened aperture of the luminal space of the lateral semicircular canal MP:0006016 dilated posterior semicircular canal stretched or widened aperture of the luminal space of the posterior semicircular canal MP:0006017 dilated superior semicircular canal stretched or widened aperture of the luminal space of one or both of the superior semicircular canals MP:0006018 abnormal tympanic membrane morphology any structural anomaly of the thin, tense membrane forming the greater part of the lateral wall of the tympanic cavity and separating it from the external acoustic meatus; the tympanic membrane constitutes the boundary between the external and middle ear MP:0006019 absent tympanic membrane absence of the thin, tense membrane forming the greater part of the lateral wall of the tympanic cavity and separating it from the external acoustic meatus; the tympanic membrane constitutes the boundary between the external and middle ear MP:0006020 decreased tympanic ring size smaller than average tympanic ring MP:0006021 abnormal Reissner membrane morphology any structural anomaly of the membrane which separates the cochlear duct from the vestibular canal, i.e. the endolymph of the scala media from the perilymph of the scala vestibuli; the Reissner membrane consists of squamous epithelial cells with microvilli toward the ductus, a basement membrane, and a thin layer of connective tissue toward the scala MP:0006022 absent Reissner membrane loss of the membrane which separates the cochlear duct from the vestibular canal MP:0006023 detached Reissner membrane partial or complete loss of connection between the membrane and the stria vascularis, the periosteum covering the lamina spiralis ossea, or both MP:0006024 collapsed Reissner membrane the Reissner's membrane, which normally separates the scala media from the scala vestibuli, has collapsed onto the spiral limbus and the tectorial membrane of the organ of Corti MP:0006025 distended Reissner membrane an increase in the volume of endolymphatic fluid that results in distortion of the vestibular membrane MP:0006026 dilated terminal bronchiole tube stretched or widened aperture of the luminal space of one or more of the terminal bronchiole tubes MP:0006027 impaired lung alveolus development a block or reduction in the formation of the sacs for holding air in the lungs, which are formed by the terminal dilation of air passageways MP:0006028 obsolete impaired bronchiole branching OBSOLETE. a block or reduction in the morphogenesis of the bronchioles MP:0006029 abnormal sclerotome morphology any structural anomaly of the group of mesenchymal cells that emerge from the ventromedial part of a somite and migrate toward the notochord; normally, sclerotomal cells from adjacent somites become merged in intersomitically located masses that are the primordia of the centra of the vertebrae MP:0006030 abnormal otic vesicle development anomaly in the formation of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear MP:0006031 abnormal pharyngeal pouch morphology any structural anomaly of the balloonlike diverticulae of the embryonic pharyngeal endoderm that line the inside of the branchial arches; these paired endodermal evaginations develop in a craniocaudal sequence between the branchial arches, e.g. pouch 1 lies between arches 1 and 2; in mammals, there are four well-developed pairs of pouches (the fifth and sixth pair is vestigial or absent); the pouch endoderm reaches the branchial groove ectoderm to form the double-layer branchial membranes that separate them MP:0006032 abnormal ureteric bud morphology any structural anomaly of the epithelial swelling on the metanephric duct that elongates to invade the adjacent metanephric mesenchyme; interactions between the ureteric bud and the metanephric mesenchyme leads to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue MP:0006033 abnormal external auditory canal morphology any structural anomaly of the canal that connects the outer and middle ear MP:0006034 myoglobinuria presence of myoglobin in the urine MP:0006035 abnormal mitochondrial morphology any structural anomaly of the semiautonomous, self replicating organelles that occur in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells; mitochondria are notably the site of tissue respiration MP:0006036 abnormal mitochondrial physiology any functional anomaly of the cellular organelles responsible for energy production MP:0006037 abnormal mitochondrial fission anomaly in the expansion rate of the cellular organelles responsible for energy production by division MP:0006038 increased mitochondrial fission increase in the expansion rate of the cellular organelles responsible for energy production by division MP:0006039 decreased mitochondrial fission reduction in the expansion rate of the cellular organelles responsible for energy production by division MP:0006040 obsolete increased mitochondrial oxidation OBSOLETE. greater than normal activity of the process in mitochondria that produces ATP MP:0006041 obsolete decreased mitochondrial oxidation OBSOLETE. less than normal activity of the mitochondrial process that produces ATP MP:0006042 increased apoptosis greater than normal programmed cell death MP:0006043 decreased apoptosis less than normal cell death MP:0006044 tricuspid valve regurgitation the backward reflux of blood through the tricuspid valve, due to insufficiency caused by disease, aging or congenital malformation MP:0006045 mitral valve regurgitation the backward reflux of blood through the mitral valve, due to insufficiency caused by disease, aging or congenital malformation MP:0006046 atrioventricular valve regurgitation the backward reflux of blood through the atrioventricular valve, due to insufficiency caused by disease, aging or congenital malformation MP:0006047 aortic valve regurgitation the backward reflux of blood through the aortic valve, due to insufficiency caused by disease, aging or congenital malformation MP:0006048 pulmonary valve regurgitation the backward reflux of blood through the pulmonary valve, due to insufficiency caused by disease, aging or congenital malformation MP:0006049 semilunar valve regurgitation the backward reflux of blood through the semilunar valve(s), due to insufficiency caused by disease, aging or congenital malformation MP:0006050 pulmonary fibrosis formation of fibrous tissue within the lung often resulting from inflammation or injury MP:0006051 brainstem hemorrhage bleeding into the brain stem MP:0006052 cerebellum hemorrhage bleeding into the cerebellum MP:0006053 hypothalamus hemorrhage bleeding into the hypothalamus MP:0006054 spinal hemorrhage bleeding into the spine MP:0006055 abnormal vascular endothelial cell morphology any structural anomaly of the cells that line the vasculature MP:0006056 increased vascular endothelial cell number greater than normal number of cells lining the vasculature MP:0006057 decreased vascular endothelial cell number less than normal number of cells lining the vasculature MP:0006058 decreased cerebral infarct size decreased size of necrotic area of the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply MP:0006059 decreased susceptibility to ischemic brain injury less severe response, such as decreased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of all or part of the brain compared to controls MP:0006060 increased cerebral infarct size increased size of necrotic area of the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply MP:0006061 right atrial isomerism anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the right side of the body MP:0006062 abnormal vena cava morphology any structural anomaly of either of the two largest veins in the body MP:0006063 abnormal inferior vena cava morphology any structural anomaly of the principal vein draining blood from the lower portion of the body MP:0006064 abnormal superior vena cava morphology any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart MP:0006065 abnormal heart position or orientation the heart is displaced from the normal left-sided position and/or orientation MP:0006066 decreased clearance of atrial thrombosis slower removal of a thrombus from the atria of the heart MP:0006067 increased clearance of atrial thrombosis faster removal of a thrombus from the atria of the heart MP:0006068 abnormal retina horizontal cell morphology any structural anomaly of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina MP:0006069 abnormal retina neuronal layer morphology any structural anomaly of any of the neuronal layers that make up the retina, including the ganglion cell, inner plexiform, inner nuclear, outer plexiform, outer nuclear layers, the inner and outer segments MP:0006070 increased retina photoreceptor cell number greater than the expected number of rods and/or cones MP:0006071 abnormal retina progenitor cell morphology any structural anomaly of the cells that give rise to the various cells of the retina MP:0006072 abnormal retina apoptosis change in the timing or the number of cells in the retina undergoing programmed cell death MP:0006073 abnormal retina bipolar cell morphology any structural anomaly of the cells that transmit signals from the photoreceptors to retinal amacrine and ganglion cells MP:0006074 abnormal retina rod bipolar cell morphology any structural anomaly of the bipolar cells that function in low light and transmit signals only through amacrine cells MP:0006075 abnormal retina cone bipolar cell morphology any structural anomaly of the retinal bipolar cells that connect to both ganglion and amacrine cells MP:0006076 abnormal circulating homocysteine level aberrant amount in the blood of sulfur-containing alpha-amino acid found in the plasma; blood levels are regulated by folic acid, vitamin B6 and vitamin B12 MP:0006077 inguinal hernia hernia through the abdominal wall in the region of the groin known as Hesselbach's triangle MP:0006078 abnormal nipple morphology any structural anomaly of the erectile projection at the apex of the mammary gland where the lactiferous ducts open MP:0006080 brain ischemia inadequate blood flow to a region of the brain that may lead to cerebral infarction MP:0006082 CNS inflammation local accumulation of fluid, plasma proteins, and leukocytes in the brain and/or spinal cord MP:0006083 abnormal blood vessel elastic tissue morphology any structural anomaly of the elastic tissue layer that lines a blood vessel layer MP:0006084 abnormal circulating phospholipid level any anomaly in the concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group MP:0006085 myocardium necrosis morphological changes resulting from pathological death of myocardial tissue; usually due to irreversible damage MP:0006086 decreased body mass index less than normal average of a measure of weight for height MP:0006087 increased body mass index greater than normal average of a measure of weight for height MP:0006088 abnormal blood-cerebrospinal fluid barrier function anomaly in the function of the group of barriers and transport systems in the choroid plexus located in the lateral, third, and fourth brain ventricles that controls the entrance of substances into the cerebrospinal fluid from the blood MP:0006089 abnormal vestibular saccule morphology any structural anomaly of the smaller of the two sacs in the vestibule MP:0006090 abnormal utricle morphology any structural anomaly of the larger of the two sacs in the vestibule MP:0006092 abnormal olfactory sensory neuron morphology any structural anomaly of the neurons in the olfactory epithelium that are activated by specific odorants MP:0006093 arteriovenous malformation fusion of an artery and vein without an intervening capillary bed MP:0006094 increased fat cell size increased size of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals MP:0006095 absent amacrine cells absence of the amacrine cells, which constitute one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer MP:0006096 absent retina bipolar cells absence of the cells that transmit signals from the photoreceptors to retinal amacrine and ganglion cells MP:0006097 abnormal cerebellar lobule formation anomaly in the formation of the lobes of the cerebellum MP:0006098 absent cerebellar lobules missing lobes of the cerebellum MP:0006099 thin cerebellar granule layer reduced thickness of the innermost cortical layer of the cerebellum that contains granule cells MP:0006100 abnormal tegmentum morphology any structural anomaly of the floor of the midbrain which extends from the substantia nigra to the level of the cerebral aqueduct MP:0006101 absent tegmentum absence or loss of the floor of the midbrain which extends from the substantia nigra to the level of the cerebral aqueduct MP:0006102 decreased tegmentum size reduced size of the floor of the midbrain which extends from the substantia nigra to the level of the cerebral aqueduct MP:0006103 abnormal midbrain roof plate morphology any structural anomaly of the mesencephalic roof plate, including the caudal and rostral part of the midbrain roof MP:0006104 abnormal tectum morphology any structural anomaly of the rostral part of the midbrain roof MP:0006105 small tectum reduced size of the rostral part of the midbrain roof MP:0006106 absent tectum absence or loss of the rostral part of the midbrain roof MP:0006107 abnormal fetal atrioventricular canal morphology any structural anomaly of the common canal connecting the primordial atrium and ventricle during fetal development; the dorsal and ventral endocardial cushions develop in the walls of the common atrioventricular canal, grow toward each other and fuse, dividing the common atrioventricular canal into right and left atrioventricular canals and the atrioventricular septum MP:0006108 abnormal hindbrain development anomaly in the formation or pattering of the caudal region of the brain MP:0006109 fibrillation asynchronous contraction or quivering of individual cardiac muscle fibers MP:0006110 ventricular fibrillation asynchronous contraction or quivering of individual cardiac muscle fibers in the ventricles MP:0006111 abnormal coronary circulation any anomaly in the circulation of blood through the vessels that supply the heart MP:0006112 angina inadequate blood flow to and/or oxygenation of the heart producing chest pain MP:0006113 abnormal heart septum morphology any structural anomaly of the thin membranous structure between the two heart atria, the atria and the ventricles, or the thick muscular structure between the two heart ventricles MP:0006114 cardiac murmur abnormal turbulent blood flow through the valves or outflow tract results in abnormal heart sounds MP:0006115 aortic valve atresia congenital closure of the aortic valve MP:0006116 calcified aortic valve pathologic deposition of calcium salts in the aortic valve MP:0006117 aortic valve stenosis abnormal narrowing or constriction of the aortic valve MP:0006118 aortic valve prolapse collapse of one or more of the aortic valve cusps backward allowing blood to leak backwards, usually the result of enlargement of one or more of the valve cusps MP:0006119 mitral valve atresia congenital closure of the mitral valve MP:0006120 mitral valve prolapse collapse of one or more of the mitral valve cusps backward allowing blood to leak backwards, usually the result of enlargement of one or more of the valve cusps MP:0006121 calcified mitral valve pathologic deposition of calcium salts in the mitral valve MP:0006122 mitral valve stenosis abnormal narrowing or constriction of the mitral valve MP:0006123 tricuspid valve atresia congenital closure of the tricuspid valve MP:0006124 tricuspid valve stenosis abnormal narrowing or constriction of the tricuspid valve MP:0006125 tricuspid valve prolapse collapse of one or more of the tricuspid valve cusps backward allowing blood to leak backwards, usually the result of enlargement of one or more of the valve cusps MP:0006126 abnormal cardiac outflow tract development anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery and the ventricular outflow regions MP:0006128 pulmonary valve stenosis abnormal narrowing or constriction of the pulmonary valve MP:0006129 pulmonary valve prolapse collapse of one or more of the pulmonary valve cusps backward allowing blood to leak backwards, usually the result of enlargement of one or more of the valve cusps MP:0006130 pulmonary valve atresia congenital closure of the pulmonary valve MP:0006131 calcified pulmonary valve pathologic deposition of calcium salts in the pulmonary valve MP:0006132 calcified tricuspid valve pathologic deposition of calcium salts in the tricuspid valve MP:0006133 calcified artery pathologic deposition of calcium salts in the arteries MP:0006134 artery occlusion blockage of blood flow through one or more arteries MP:0006135 artery stenosis abnormal constriction or narrowing of one or more arteries MP:0006136 varicose veins enlarged, twisted, painful superficial veins resulting from poorly functioning valves MP:0006137 venoocclusion blockage of blood flow through one or more veins MP:0006138 congestive heart failure cardiac output is insufficient to supply blood throughout the body, resulting in the accumulation of fluid in the lungs and other body tissues; it is related mainly to salt and water retention in the tissues rather than directly to reduced blood flow; blood pools in the veins (vascular congestion) because the heart does not pump efficiently enough to allow it to return MP:0006140 increased cardiac rhabdomyoma incidence greater than the expected number of a benign tumor of the myocardium, occurring in a specific population in a given time period; it is most commonly seen in the young and is often associated with tuberous sclerosis MP:0006141 abnormal atrioventricular node conduction anomaly in the generation or transfer of cardiac electrical impulses from the atrioventricular node to the atrioventricular bundle MP:0006142 abnormal sinoatrial node conduction anomaly in the generation or transfer of electrical impulses that trigger contraction of the atria and ventricles MP:0006143 increased systemic arterial diastolic blood pressure abnormal increase in the pressure in the arteries between heart beats when the heart is relaxed MP:0006144 increased systemic arterial systolic blood pressure abnormal increase in the pressure in the arteries as the heart contracts and pumps blood into the arteries MP:0006145 legal blindness the best corrected visual acuity is 20/200, or the visual field is 20 degrees or less (sensu H. sapiens) MP:0006147 monocular blindness loss of vision in only one eye, may be transient MP:0006148 binocular blindness loss of vision in both eyes, may be transient MP:0006149 decreased visual acuity loss of visual acuity or ability to distinguish small details MP:0006150 double vision two images are perceived when only a single object is present MP:0006151 cornea astigmatism the cornea is asymmetrically curved, causing out-of-focus vision MP:0006152 tunnel vision loss of peripheral vision MP:0006153 hypermetropia light entering the eye focuses behind the retina, instead of directly on it MP:0006154 eye abduction abnormal movement of the eye laterally, or towards the temple MP:0006155 eye adduction abnormal movement of the eye medially, or towards the nose MP:0006156 abnormal visual pursuit anomaly in the ability to selectively track a moving object MP:0006157 palsy of the eye the eye fails to move properly in all directions of gaze MP:0006158 vertical supranuclear palsy inability to move the eye vertically MP:0006159 ocular albinism absence of melanin (pigment) production in the eye with identifiable melanocytes present MP:0006160 heterochromatic iridis a difference in color between the irises of the two eyes or between parts of one iris MP:0006162 thick eyelids increased width of the eyelid MP:0006163 ankyloblepharon filiform abnormal connection of the upper and lower eyelids formed by fibrous tissue MP:0006164 ectropion abnormal eversion of the upper or lower eyelid that leaves the eye exposed and dry MP:0006165 entropion abnormal inward rolling of the eyelid, most commonly the lower lid MP:0006166 eyelid retraction abnormal superior displacement of resting upper lid margin or abnormal inferior displacement of resting lower lid margin MP:0006167 eyelid edema an abnormal accumulation of fluid in the eyelid MP:0006168 epicanthus inversus a vertical fold of skin runs from the lower eyelid up either side of the nose MP:0006169 increased eyelid tumor incidence greater than the expected number of abnormal rapidly proliferating cells in the eyelid, usually in the form of a distinct mass, occurring in a specific population in a given time period MP:0006170 increased eyelid myxoma incidence higher than normal incidence of a benign neoplasm derived from pluripotential mesenchymal stem cells of eyelid connective tissue, consisting chiefly of polyhedral and stellate cells that are loosely embedded in a soft mucoid matrix MP:0006171 increased eyelid neuroma incidence greater than the expected number of a tumor composed of nerve tissue found in the eyelid, occurring in a specific population in a given time period MP:0006172 increased eyelid lipodermoid incidence greater than the expected number of a congenital, yellowish-white, fatty, benign tumor located beneath the conjunctiva of the eye, occurring in a specific population in a given time period MP:0006173 abnormal myeloid dendritic cell morphology any structural anomaly of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses MP:0006175 choroid atrophy acquired diminution of the size of the choroid associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0006176 choroid degeneration a retrogressive impairment of function or destruction of the choroid MP:0006177 choroid sclerosis thickening or hardening of the choroid usually secondary to atrophy MP:0006180 increased choroid hemangioma incidence greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells in the choroid, occurring in a specific population in a given time period MP:0006182 increased retina hemangioma incidence greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells in the retina, occurring in a specific population in a given time period MP:0006183 increased retina hamartoma incidence greater than the expected number of a benign formation of a mass of tissue of disproportionate size and distribution in the retina, occurring in a specific population in a given time period; hamartomas are typically composed of an overgrowth of mature cells and tissues that normally occur in this tissue MP:0006184 increased retina astrocytoma incidence greater than the expected number of a malignant tumor of nervous tissue composed of well-differentiated astrocytes located in the retina, occurring in a specific population in a given time period MP:0006185 retina hemorrhage bleeding into the retina MP:0006186 retina fibrosis invasion of fibrous connective tissue into the retina, often resulting from inflammation or injury MP:0006187 retina deposits abnormal accumulation of material on the retina MP:0006188 calcified retina pathologic deposition of calcium salts in the retina MP:0006190 retina ischemia inadequate blood flow to the retina usually due to functional constriction or obstruction of a blood vessel MP:0006191 conjunctival deposits abnormal accumulation of material on the conjunctiva MP:0006192 abnormal conjunctival vasculature morphology any structural anomaly of the blood vessel network of the conjunctiva MP:0006193 conjunctival telangiectasia vascular lesion formed by dilation of a group of small blood vessels in the conjunctiva MP:0006194 keratoconjunctivitis inflammation of the conjunctiva and cornea MP:0006197 ocular hypotelorism decreased interpupillary distance, i.e. decreased distance between the center of the pupils of the two eyes MP:0006198 enophthalmos recession of the eyeball within the orbit MP:0006199 hypertropia vertical misalignment between the eyes MP:0006200 vitreous body deposition abnormal accumulation of material in the vitreous body MP:0006201 vitreous body inflammation local accumulation of fluid, plasma proteins, and leukocytes in the vitreous body MP:0006202 vitreous body hemorrhage bleeding into the vitreous body MP:0006203 eye hemorrhage bleeding into the eye MP:0006204 embryonic lethality before implantation death anytime between fertilization and implantation (Mus: E0 to less than E4.5) MP:0006205 embryonic lethality between implantation and somite formation death anytime between the point of implantation and somite formation (Mus: E4.5 to less than E8) MP:0006206 embryonic lethality between somite formation and embryo turning death anytime between somite formation and the initiation of embryo turning (Mus: E8 to less than E9) MP:0006207 embryonic lethality during organogenesis death anytime between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) MP:0006208 lethality throughout fetal growth and development death anytime between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) MP:0006209 calcified intraocular region pathologic deposition of calcium salts in the eye MP:0006210 abnormal orbit size deviation from the normal size of the orbit MP:0006211 small orbits reduced size of the orbits MP:0006212 large orbits increased size of the orbits MP:0006213 shallow orbits decrease in the depth of the orbit MP:0006214 asymmetrical orbits loss of bilateral symmetry in the orbits MP:0006216 abnormal optic disk size deviation from the normal size of the optic disk MP:0006217 small optic disk reduced size of the optic disk MP:0006218 large optic disk increased size of the optic disk MP:0006219 optic nerve degeneration an active retrogressive pathologic deterioration of the optic nerve due to processes such as aberrant damage repair from injury, impaired blood flow or aging MP:0006220 optic nerve compression a flattened or pressed appearance of the optic nerve as if by applied pressure MP:0006221 optic nerve hypoplasia decrease in the number of normal cells in normal arrangement in the optic nerve, typically resulting in decreased size MP:0006222 optic neuropathy damage of the optic nerve due to a blockage of its blood supply, to nutritional deficiencies, or to toxins MP:0006223 optic nerve swelling accumulation of an excessive amount of fluid in the optic nerve; usually associated with an increase in intraocular pressure MP:0006224 oculomotor apraxia impaired control of horizontal eye movements MP:0006225 ocular rupture tearing of the tissues of the eye MP:0006226 iris hypoplasia decrease in the number of normal cells in normal arrangement in the iris, typically resulting in decreased size MP:0006228 iris atrophy acquired diminution of the size of the iris associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0006229 iris inflammation local accumulation of fluid, plasma proteins and leukocytes in the iris MP:0006230 iris stroma hypoplasia decrease in the number of normal cells in normal arrangement in the iris stroma, typically resulting in decreased size MP:0006232 increased Lisch nodule incidence greater than the expected number of benign focal malformations in the iris in a specific population in a given time period; results from faulty iris development, and is composed of an abnormal mixture of tissue elements including melanocytes, or an abnormal proportion of a single element normally present at that site MP:0006234 iridoschisis separation of the anterior iris stroma from the posterior stroma and muscle layers MP:0006235 polycoria two or more pupils in one iris each with sphincter muscle MP:0006236 absent Meibomian glands missing meibomian glands MP:0006237 abnormal choroid vasculature morphology any structural anomaly of the blood vessels of the choroid MP:0006238 abnormal choriocapillaris morphology any structural anomaly of the capillaries forming the inner vascular layer of the choroid of the eye MP:0006239 absent choriocapillaris missing capillaries forming the inner vascular layer of the choroid of the eye MP:0006240 anisocoria unequal size of pupils MP:0006241 abnormal placement of pupils abnormal location of the pupil so that it is not in the center of the iris MP:0006242 white pupil reflective white mass within the eye that gives the appearance of white pupil MP:0006243 impaired pupillary reflex the pupil fails to constrict fully when exposed to bright light MP:0006244 eyelid muscle spasm repetitive, involuntary spasm of the eyelid muscles; a twitch usually occurs in the upper eyelid, but it can occur in both the upper and lower eyelids MP:0006245 obsolete dislocated lens OBSOLETE. the lens is moved out of position because some or all of the supporting ligaments have broken MP:0006248 lagophthalmos inability to completely close the eye MP:0006249 phthisis bulbi small, shrunken, malformed eye that usually represents an acquired shrinkage of the eye following trauma, infection, or the end result of eye disease rather than a primary developmental defect MP:0006250 abnormal line of Schwalbe morphology any structural anomaly of the thickened peripheral margin of the vitreous membrane of the cornea MP:0006251 eyelid apraxia impaired ability to open the eyelids without any gross defect in eyelid morphology MP:0006252 lateral rectus palsy paralysis of the lateral rectus muscle preventing medially deviated and movement laterally from the midline MP:0006253 clinodactyly abnormal lateral curvature of one or more digits towards or away from each other MP:0006254 thin cerebral cortex decreased depth of the mantle covering the surface of the cerebral hemispheres MP:0006256 abnormal gustatory papillae morphology any structural anomaly of the papillae that contain taste buds, including the fungiform, foliate, and circumvallate papillae MP:0006257 abnormal fungiform papillae morphology any structural anomaly of the mushroom-shaped papillae, which have a single taste bud at the tip, located mostly on the dorsal anterior portion of the tongue MP:0006258 abnormal circumvallate papillae morphology any structural anomaly of the large papillae, which have multiple taste buds in the trough surrounding the papillae, located near the base and on the dorsal side of the tongue MP:0006259 abnormal foliate papillae morphology any structural anomaly of the papillae located on the sides of the tongue MP:0006260 abnormal gustatory papilla taste bud morphology any structural anomaly of the lingual taste buds found exclusively within gustatory papillae of the tongue, including the circumvallate, foliate, and fungiform papillae MP:0006261 annular pancreas an abnormal ring or collar of pancreatic tissue that encircles the duodenum MP:0006262 increased testis tumor incidence greater than the expected number of abnormal rapidly proliferating cells in the testis, usually in the form of a distinct mass, occurring in a specific population in a given time period MP:0006263 decreased systemic arterial diastolic blood pressure abnormal decrease in the pressure in the arteries between heart beats when the heart is relaxed MP:0006264 decreased systemic arterial systolic blood pressure abnormal decrease in the pressure in the arteries as the heart contracts and pumps blood into the arteries MP:0006265 increased pulse pressure increase in the difference between systolic and diastolic blood pressure MP:0006266 decreased pulse pressure decrease in the difference between systolic and diastolic blood pressure MP:0006267 abnormal intercalated disk morphology any structural anomaly in the electron dense junctional complex, at the end to end contacts of cardiac muscle cells, that contains two types of membrane junctions i.e. gap junctions and desmosomes; the intercalated discs permit communication between the cells such that there is a sequential contraction of the cells from the bottom of the ventricle to the top, facilitating maximal ejection of blood from the ventricle during contraction MP:0006268 absent cardiac desmosomes absence of one type of membrane junctions found within the intercalated discs that provide mechanical integrity and prevent separation of adjacent cells during contraction of cardiac tissue MP:0006269 abnormal mammary gland growth during pregnancy anomaly in the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation in preparation for lactation MP:0006270 abnormal mammary gland growth during lactation anomaly in the final stage of mammary growth that occurs during the start of lactation MP:0006271 abnormal involution of the mammary gland anomaly in the process during which mammary glands suspend milk protein production, the mammary alveolar structures collapse and secretory epithelial cells are lost MP:0006272 abnormal urine organic anion level any change in the amount of organic anions in the urine MP:0006273 abnormal urine organic cation level any change in the amount of organic cations in the urine MP:0006274 abnormal urine sodium level any change in the amount of sodium in the urine MP:0006276 abnormal autonomic nervous system physiology any functional anomaly of the function of the sensory and motor neurons that run between the central nervous system (especially the hypothalamus and medulla oblongata) and various internal organs (heart, lungs, endocrine and exocrine glands), responsible for controlling involuntary bodily functions MP:0006277 abnormal parasympathetic nervous system physiology any functional anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and generally acts to conserve resources and restore homeostasis, often with effects reciprocal to the sympathetic nervous system MP:0006278 aortic aneurysm a protruding sac formed by the dilation of the wall of the aorta resulting from a weakening of the vessel wall MP:0006279 abnormal limb development anomaly in the formation of the limbs MP:0006280 abnormal digit development anomaly in the formation of the digits MP:0006281 abnormal tail development anomaly in the formation of the tail MP:0006282 abnormal spinal cord dorsal horn morphology any structural anomaly of the pronounced, dorsolaterally oriented ridge of grey matter in each lateral half of the spinal cord MP:0006283 increased medulloblastoma incidence greater than the expected number of a solid, cancerous tumor originating in the cerebellum of the brain and of primitive neuroectodermal origin, occurring in a specific population in a given time period MP:0006284 absent hypaxial muscle absence of the muscles derived from the lateral myotome and lateral portion of the dermomyotome; these include the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue MP:0006285 absent inner ear absence of all components of the labyrinth, including the semicircular canals, vestibule and cochlea MP:0006286 inner ear hypoplasia decrease in the number of normal cells in normal arrangement in the inner ear, typically resulting in decreased size MP:0006287 inner ear cyst presence of one or more abnormal membranous sacs in any component of the labyrinth, including the semicircular canals, vestibule and cochlea MP:0006288 small otic capsule reduced size of the cartilage or bony capsule surrounding the inner ear mechanism MP:0006289 otic capsule hypoplasia decrease in the number of normal cells in normal arrangement in the otic capsule, typically resulting in decreased size MP:0006290 proboscis a long, cylindrical protuberance of the face that, in cyclopia or ethmocephaly, represents the nose MP:0006291 aprosencephaly derivatives of the telencephalon and diencephalon are absent or dysplastic but more caudal brain structures are largely normal or only mildly deformed MP:0006292 abnormal nasal placode morphology any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epithelium of the nose MP:0006293 absent nasal placodes absence of the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epithelium of the nose MP:0006294 absent optic vesicle absence of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop MP:0006295 absent sclerotome absence of the group of mesenchymal cells that emerge from the ventromedial part of a somite and migrate toward the notochord to give rise to the ribs and vertebrae MP:0006296 arachnodactyly the digits are abnormally long and slender MP:0006297 obsolete loss of abdominal adipose tissue OBSOLETE. reduction in amount or absence of adipose tissue associated with internal organs MP:0006298 abnormal platelet activation anomaly in the series of progressive, overlapping events triggered by exposure of platelets to signals from subendothelial tissue, including shape change, adhesiveness, aggregation, and release reactions; when carried through to completion, these events lead to the formation of a stable hemostatic plug MP:0006299 abnormal latent inhibition of conditioning behavior anomaly in the impairment in a conditioned response seen after repeated unpaired presentations of the conditioned stimulus prior to pairing it with the unconditioned stimulus MP:0006300 abnormal entorhinal cortex morphology any structural anomaly of the structure in the anterior parahippocampus that lies forward of the parahippocampal cortex and immediately medial to the perirhinal cortex, bounded superiorly by the hippocampus and inferiorly by the collateral sulcus MP:0006301 abnormal mesenchyme morphology any structural anomaly of the loosely packed, unspecialized cells that derive mostly from the mesoderm and contribute to connective tissue, bone, cartilage and circulatory and lymphatic systems MP:0006302 abnormal ectomesenchyme morphology any structural anomaly in the mesenchymal cells derived from neural crest cells that contribute to development of the hard and soft tissue in the head and neck, including the branchial arches MP:0006303 abnormal retina nerve fiber layer morphology any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve MP:0006305 abnormal optic eminence morphology any structural anomaly of the embryonic structure that gives rise to the corneal ectoderm MP:0006306 abnormal nasal pit morphology any structural anomaly of one or both of a pair of depressions formed in the developing face that give rise to the rostral portion of the nasal meatus; the nasal pits indent the fronto-nasal process and divide it into a medial and two lateral nasal processes MP:0006307 abnormal seminiferous tubule size alteration in the diameter of the tubules in the testes where spermatogenesis occurs MP:0006308 enlarged seminiferous tubules increased diameter of the tubules in the testes where spermatogenesis occurs MP:0006309 decreased retina ganglion cell number reduced number of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain MP:0006310 increased retinoblastoma incidence higher than normal incidence of a malignant tumor of the retina composed of cells arising from the retinoblasts MP:0006315 abnormal urine protein level anomaly in the amount of protein in the urine MP:0006316 increased urine sodium level higher than normal amount of sodium in the urine MP:0006317 decreased urine sodium level lower than normal amount of sodium in the urine MP:0006319 abnormal epididymal fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the epididymis MP:0006320 abnormal interscapular fat pad morphology any structural anomaly of the encapsulated adipose tissue located between the scapulae MP:0006321 increased myocardial fiber number increased number of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart MP:0006322 abnormal perichondrium morphology any structural anomaly of the fibrous connective tissue that surrounds all non-joint end cartilage MP:0006323 abnormal extraembryonic mesoderm development malformation of the mesoderm of the extraembryonic tissue that is involved in forming the amnion, chorion, yolk sac, and body stalk MP:0006324 abnormal cochlear nerve fiber response anomaly in the electrophysiological recordings from a single or several auditory nerve fiber(s) MP:0006325 impaired hearing reduced ability to perceive auditory stimuli MP:0006326 conductive hearing impairment reduction in the ability to hear due to lesions in the external auditory canal or middle ear MP:0006327 mixed hearing impairment reduced ability to hear resulting from a combination of conductive and sensorineural hearing impairment MP:0006328 nonsyndromic hearing impairment a form of hearing impairment that is not associated with visible abnormalities of the external ear or other signs and symptoms; the vast majority of hereditary hearing loss is nonsyndromic and can be associated with abnormalities of the middle ear and/or inner ear MP:0006329 sensorineural hearing impairment a form of hearing impairment due to a lesion of the auditory division of cranial nerve VIII or the inner ear MP:0006330 syndromic hearing impairment hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms MP:0006331 abnormal patterning of the organ of Corti anomaly in the organization of the various cell types within the organ of Corti into a set number of distinct rows MP:0006332 abnormal cochlear potential anomaly in the evoked response of the cochlea MP:0006334 abnormal susceptibility to hearing loss anomaly in the sensitivity to loss of hearing related to age or environmental factors MP:0006335 abnormal hearing electrophysiology anomaly in auditory function as it relates to electrical phenomena MP:0006336 abnormal otoacoustic response anomaly in the acoustic energy produced by the cochlea in the presence or absence of sound stimulation MP:0006337 abnormal first pharyngeal arch morphology any structural anomaly of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel's cartilage, trigeminal nerve, and maxillary artery MP:0006338 abnormal second pharyngeal arch morphology any structural anomaly of the second arch which contributes to the development of the stapes, styloid process, hyoid bone, stylohyoid ligament, muscles of facial expression, stapedius muscle, stylohyoid muscle, and lining of the palatine tonsils MP:0006339 abnormal third pharyngeal arch morphology any structural anomaly of the third arch which contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus MP:0006340 abnormal fourth pharyngeal arch morphology any structural anomaly of the fourth arch which contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus MP:0006341 small first pharyngeal arch reduced size of the first branchial arch MP:0006342 absent first pharyngeal arch absence of the structure of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel's cartilage, trigeminal nerve, and maxillary artery MP:0006343 enlarged first pharyngeal arch increased size of the first branchial arch MP:0006344 small second pharyngeal arch reduced size of the second branchial arch MP:0006345 absent second pharyngeal arch absence of the structure of the second arch which contributes to the development of the stapes, styloid process, hyoid bone, stylohyoid ligament, muscles of facial expression, stapedius muscle, stylohyoid muscle, and lining of the palatine tonsils MP:0006346 small pharyngeal arch reduced size of one or more of the branchial arches MP:0006347 abnormal sixth pharyngeal arch morphology any structural anomaly of the sixth arch which contributes to the development of the sternocleidomastoid and trapezius muscles MP:0006348 abnormal circulating copper level any anomaly in the blood concentration of copper MP:0006349 decreased circulating copper level less than the normal concentration of copper in the blood MP:0006350 increased circulating copper level greater than normal concentration of copper in the blood MP:0006351 abnormal glycosylated hemoglobin level aberrant concentration in the blood of modified form of hemoglobin with an attached saccharide molecule; this is commonly used to estimate blood glucose levels over the lifespan of the red blood cell MP:0006352 decreased glycosylated hemoglobin level lower than normal blood concentration of a modified form of hemoglobin with an attached saccharide molecule MP:0006353 increased glycosylated hemoglobin level greater than normal blood concentration of a modified form of hemoglobin with an attached saccharide molecule MP:0006354 abnormal fourth pharyngeal arch artery morphology any structural anomaly of the vessels formed within the fourth pair of branchial arches in embryogenesis MP:0006355 abnormal sixth pharyngeal arch artery morphology any structural anomaly of the vessels formed within the sixth pair of branchial arches in embryogenesis MP:0006356 abnormal third pharyngeal arch artery morphology any structural anomaly of the vessels formed within the third pair of branchial arches in embryogenesis MP:0006357 abnormal circulating mineral level any anomaly in the concentration in the blood of any naturally occurring, homogeneous inorganic solid substance having a definite chemical composition and highly ordered atomic arrangement that is required for growth and survival MP:0006358 absent pinna reflex complete failure to respond to an auditory stimulus by a characteristic ear twitch MP:0006359 absent startle reflex failure to respond to variable stimuli, often auditory; usually measured by amplitude of whole body flinch MP:0006361 abnormal female germ cell morphology any structural anomaly female germ cells whether they are undifferentiated or fully differentiated MP:0006362 abnormal male germ cell morphology any structural anomaly of male germ cells whether they are undifferentiated or fully differentiated MP:0006363 absent auchene hairs absence of truncal hairs having a single constriction and bend about midway along the hair shaft, and contain two or more air cells in the medulla MP:0006364 absent awl hair absence of truncal hairs that are straight, but are shorter than guard hairs, and contain two or more air cells in the medulla MP:0006365 absent guard hair absence of the long, straight truncal hairs that contain two air cells in the medulla MP:0006366 absent zigzag hairs absence of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla MP:0006367 absent sweat gland absence of any of the coil glands of the skin that secrete sweat MP:0006369 supernumerary incisors more than the usual number of incisors, normally consisting of two pairs, top and bottom, of the long teeth that are the most anterior and prominent in the jaw MP:0006370 abnormal hair follicle pheomelanosome pheomelanin content anomaly in the amount or distribution of yellow pigment in the hair follicle MP:0006371 absent hair follicle pheomelanosome pheomelanin yellow pigment is not present in pheomelanosomes of the hair follicle MP:0006372 impaired placental function reduction in the ability of the placenta to supply nutrients or remove waste MP:0006373 abnormal circulating angiotensinogen level anomaly in the concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I MP:0006374 obsolete abnormal blood osmolality OBSOLETE. anomaly in the concentration of ions in the blood MP:0006375 increased circulating angiotensinogen level greater than normal concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I MP:0006376 decreased circulating angiotensinogen level less than normal concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I MP:0006377 abnormal vestibulocollic reflex any anomaly in the neural reflex which results from activation of afferents from the vestibular organs and uses neck movements to stabilize the head position in space MP:0006378 abnormal spermatogonia morphology any structural anomaly of the large unspecialized male germ cells that give rise to spermatocytes MP:0006379 abnormal spermatocyte morphology any structural anomaly of male germ cells that through meiosis give rise to spermatids MP:0006380 abnormal spermatid morphology any structural anomaly of the male germ cells that without further cell division give rise to mature spermatozoa MP:0006382 abnormal lung epithelium morphology any structural anomaly of the epithelial layer of the lung MP:0006383 abnormal cochlear frequency tuning any anomaly in the frequency resolution of the cochlea, normally determined by the passive mechanical properties of the basilar membrane and active feedback from the outer hair cells which detect and amplify sound-induced basilar membrane motions MP:0006384 enhanced cochlear frequency tuning increase in the sharpness of frequency resolution of the cochlea MP:0006386 absent somites absence of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo MP:0006387 abnormal T cell number deviation from the normal count of T cells MP:0006388 abnormal auditory summating potential any anomaly in the dc shift in the waveform sustained for the duration of a toneburst stimulus that represents the depolarization of sensory hair cells in the cochlea; positive summating potentials (SPs) reflect activity of basal turn hair cells while negative SPs are derived from hair cell activity in the apical turn; negative SPs tend to be obtained at low frequencies and low intensities of stimulus, while positive SPs are recorded in response to high frequencies and high intensities MP:0006389 abnormal vestibular endolymph physiology change in the normal production (volume) or ionic homeostasis of the fluid contained within the vestibule of the inner ear; unlike cochlear endolymph this fluid does not have a high potential MP:0006390 abnormal cochlear endolymph physiology change in the normal production (volume) or ionic homeostasis of the fluid contained within the cochlea of the inner ear MP:0006391 abnormal vestibular endolymph ionic homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of charged molecules in the vestibular endolymph MP:0006392 abnormal nucleus pulposus morphology any structural anomaly of the jelly-like substance in the middle of the spinal disc which is a remnant of the notochord MP:0006393 absent nucleus pulposus missing the notochord remnant normally found in the center of the intervertebral disc MP:0006394 abnormal vertebral epiphyseal plate morphology any structural anomaly of the lateral cartilaginous centers of ossification; may be found on the lateral, upper, and/or lower surfaces of the vertebrae at different times during development MP:0006395 abnormal epiphyseal plate morphology any structural anomaly of the cartilaginous center of ossification on the bones permitting growth of the bone in both directions during development MP:0006396 decreased long bone epiphyseal plate size reduced size of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles MP:0006397 disorganized long bone epiphyseal plate a lack of the regular arrangement of the cells or zones of the epiphyseal plate MP:0006398 increased long bone epiphyseal plate size greater than the normal size of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles MP:0006399 abnormal long bone epiphyseal ossification zone morphology any structural anomaly of the layer of the epiphyseal plate where new bone matrix is deposited MP:0006400 decreased molar number reduction in the number of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface MP:0006401 absent male preputial gland a lack of the sebaceous glands of the corona and neck of the glans penis MP:0006402 small molars reduced size of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface MP:0006403 abnormal cochlear endolymph ionic homeostasis anomaly in the state of equilibrium in the cochlear endolymph with respect to charged molecules; cochlear endolymph is not only an unusual extracellular fluid for its high potassium ion and low sodium ion concentration but also for its low calcium ion concentration, high HCO3- concentration and low protein content MP:0006404 abnormal lumbar dorsal root ganglion morphology any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the lumbar vertebrae MP:0006405 abnormal L3 dorsal root ganglion morphology any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the third lumbar vertebra MP:0006408 dorsal root ganglion hypoplasia decrease in the number of normal cells in normal arrangement in the dorsal root ganglion, typically resulting in decreased size MP:0006409 vestibular ganglion hypoplasia decrease in the number of normal cells in normal arrangement in the vestibular ganglion, typically resulting in decreased size MP:0006410 abnormal common myeloid progenitor cell morphology any structural anomaly of the hematopoietic stem cells that are capable of forming any of the myeloid lineage cells (erythrocytes, granulocytes, thrombocytes, monocytes, and mast cells) but not cells of the lymphoid lineage MP:0006411 upturned snout muzzle has a curve or tilt such that the tip points upwards MP:0006412 abnormal T cell apoptosis change in the timing or the number of T cells undergoing programmed cell death MP:0006413 increased T cell apoptosis increase in the number of T cells undergoing programmed cell death MP:0006414 decreased T cell apoptosis decrease in the number of T cells undergoing programmed cell death MP:0006415 absent testes absence of the male reproductive glands containing the germ cells MP:0006416 abnormal rete testis morphology any structural anomaly of the network of canals at the termination of the straight tubules in the mediastinum testis MP:0006417 rete testis obstruction any impediment or blockage of the network of canals at the termination of the straight tubules in the mediastinum testis MP:0006418 abnormal testis cord formation any structural anomaly in the formation of the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence; defective testis cord formation is most likely to reflect abnormal function of either Sertoli cells or peritubular myoid (PTM) cells which normally cooperate to deposit a layer of basal lamina that defines the edges of individual testis cords MP:0006419 disorganized testis cords derangement of the pattern of the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence MP:0006420 abnormal peritubular myoid cell morphology any structural anomaly of the flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule MP:0006421 decreased number of peritubular myoid cells reduced number of the flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule MP:0006422 increased mammary adenoacanthoma incidence higher than normal incidence of malignant tumors in which some cells have undergone squamous metaplasia in the mammary gland MP:0006423 dilated rete testis an expansion in the volume or area of the network of canals located at the termination of the straight tubules in the mediastinum testis, usually with an increase in contained fluid MP:0006424 absent testis cords missing the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence MP:0006425 absent Mullerian ducts absence of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina MP:0006426 Mullerian duct degeneration a retrogressive impairment of function or destruction of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina MP:0006427 ectopic Leydig cells abnormal position of the testosterone-secreting cells normally found adjacent to the seminiferous tubules, within the interstitium of the testis MP:0006428 ectopic Sertoli cells abnormal position of the supporting cells of the seminiferous tubule epithelium that create the blood-testes barrier and enable spermatogenesis MP:0006429 abnormal hyaline cartilage morphology any structural anomaly of the bluish-white, glassy, translucent nonvascular, resilient, flexible connective tissue; found primarily in articular cartilage, costal cartilages, the nasal septum, the larynx, and the trachea MP:0006430 abnormal elastic cartilage morphology any structural anomaly of the nonvascular, resilient, flexible connective tissue containing elastin fibers; found primarily in the epiglottis, external ear, and auditory tubes MP:0006431 abnormal fibrocartilage morphology any structural anomaly of the nonvascular, resilient, flexible connective tissue containing thick bundles of collagenous fibers; found primarily in intervertebral disks MP:0006432 abnormal costal cartilage morphology any structural anomaly of the nonvascular, resilient, flexible hyaline connective tissue that connects the end of a true rib to the sternum or the end of a false rib with the with the lower border of the costal cartilage above it MP:0006433 abnormal articular cartilage morphology any structural anomaly of the thin layer of smooth hyaline cartilage located on the joint surfaces of a bone MP:0008000 increased ovary tumor incidence greater than the expected number of neoplams in the ovary occurring in a specific population in a given time period MP:0008001 hypochlorhydria reduced hydrochloric acid content of the gastric secretions MP:0008002 hyperchlorhydria increased hydrochloric acid content of the gastric secretions MP:0008003 achlorhydria absence of hydrochloric acid in the gastric secretions MP:0008004 abnormal stomach pH anomaly in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, as measured by the concentration of the hydrogen ion MP:0008005 decreased stomach pH change in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, such that the acidity is increased, as indicated by the increased concentration of hydrogen ion MP:0008006 increased stomach pH change in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, such that the acidity is decreased, as indicated by the decreased concentration of hydrogen ion MP:0008007 abnormal cellular replicative senescence anomaly in the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division MP:0008008 early cellular replicative senescence increase in the progression of the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division MP:0008009 delayed cellular replicative senescence slower progression of the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division MP:0008010 increased gastric adenocarcinoma incidence higher than normal incidence of a malignant neoplasm of epithelial cells in the stomach MP:0008011 intestine polyps abnormal tissue masses that protrude into the lumen of the intestine and are tethered to the wall of the intestine MP:0008012 duodenum polyps development of numerous growths that are connected to and protrude from the mucous membrane of the duodenum MP:0008013 cecum polyps development of numerous growths that are connected to and protrude from the mucous membrane of the cecum MP:0008014 increased lung tumor incidence greater than the expected number of neoplasms in the lung, usually in the form of a distinct mass, in a specific population in a given time period MP:0008015 abnormal female inguinal canal morphology any structural anomaly of the passage in the lower abdominal wall through which the round ligament, nerves and vessels pass from the pelvic cavity to labia majora MP:0008016 abnormal male inguinal canal morphology any structural anomaly of the passage in the lower abdominal wall through which the spermatic cord, nerves and vessels pass from the pelvic cavity to the scrotum MP:0008017 inguinal cyst presence of one or more benign epithelial growths in the wall of the inguinal canal MP:0008018 increased facial tumor incidence greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period MP:0008019 increased liver tumor incidence greater than the expected number of neoplasms in the liver, usually in the form of a distinct mass, in a specific population in a given time period MP:0008020 abnormal dermal mast cell morphology any structural anomaly of cells located in connective tissue of the dermis that contain numerous basophilic granules and release substances such as heparin and histamine in response to injury or inflammation MP:0008021 increased blastoma incidence higher than normal incidence of a fast growing and invasive tumor composed chiefly or entirely of immature undifferentiated cells that have embryonic characteristics resembling the primordium of the organ in which the tumor arose MP:0008022 dilated heart ventricle the luminal space of one or both of the lower chambers of the heart is increased in volume or area, usually with an increase in contained fluid MP:0008023 abnormal styloid process morphology any structural anomaly in the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments MP:0008024 absent lymph nodes absence of the oval or bean shaped bodies located along the lymphatic system that consist of densely packed lymphocytes, lymph fluid and connective tissue; these are the sites where acquired immune responses are launched MP:0008025 brain vacuoles abnormal presence of fluid-filled vesicles in the soma of brain cells, often indicative of spongiosis or other pathological states MP:0008026 abnormal brain white matter morphology any structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites MP:0008027 abnormal spinal cord white matter morphology any structural anomaly of the regions of the spinal cord that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites MP:0008028 pregnancy-related premature death death occurring before the normal life span of an organism, occurring during pregnancy, parturition or lactation MP:0008029 abnormal paraxial mesoderm morphology any structural anomaly of the mesoderm located bilaterally adjacent to the notochord and neural tube; on segmentation, paraxial mesoderm forms the paired somites MP:0008030 abnormal Cajal-Retzius cell morphology any structural anomaly of the distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus MP:0008031 decreased Cajal-Retzius cell number reduced number of the distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus MP:0008032 abnormal lipolysis anomaly in the process of the hydrolysis of fat into free fatty acids MP:0008033 impaired lipolysis reduction in the rate of the hydrolysis of fat into free fatty acids MP:0008034 enhanced lipolysis increase in the rate of the hydrolysis of fat into free fatty acids MP:0008035 behavioral arrest locomotor activity is interrupted by sudden periods of no movement MP:0008036 abnormal NK T cell morphology any structural anomaly of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments MP:0008037 abnormal T cell morphology any structural anomaly of lymphocytes that are responsible for cell-mediated immunity and immune system regulation MP:0008038 abnormal NK T cell number deviation from the normal number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments MP:0008039 increased NK T cell number greater number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments MP:0008040 decreased NK T cell number reduced number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments MP:0008041 absent NK T cells absence of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments MP:0008042 abnormal NK T cell physiology any functional anomaly of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments MP:0008043 abnormal NK cell number deviation in the number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells MP:0008044 increased NK cell number greater number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells MP:0008045 decreased NK cell number reduction in the number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells MP:0008046 absent NK cells absence of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells MP:0008047 absent uterine NK cells absence of a natural killer cell subset that is found in the decidua of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy MP:0008048 abnormal memory T cell number deviation from the normal number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive MP:0008049 increased memory T cell number increase in the number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive MP:0008050 decreased memory T cell number reduction in the number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive MP:0008051 abnormal memory T cell physiology any functional anomaly of the set of long-lived T cells differentiated from T cells activated by a specific antigen encountered during a past immune response MP:0008052 abnormal serous gland morphology any structural anomaly of glands that secrete watery albuminous material that often contains enzymes MP:0008053 abnormal NK cell differentiation atypical production of or inability to produce mature lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells MP:0008054 abnormal uterine NK cell morphology any structural anomaly of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy MP:0008055 increased urine osmolality increase in the amount of ions in the urine compared to the normal state MP:0008056 abnormal retina ganglion cell morphology any structural anomaly of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain MP:0008057 abnormal DNA replication any anomaly in the process whereby new strands of DNA are synthesized MP:0008058 abnormal DNA repair any anomaly in the process of restoring DNA after damage or replication error MP:0008059 abnormal podocyte foot process morphology any structural anomaly of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries MP:0008060 abnormal podocyte slit diaphragm morphology any structural anomaly of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream MP:0008061 absent podocyte slit diaphragm absence of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream MP:0008062 abnormal podocyte slit junction morphology any structural anomaly of the gaps between the interdigitated foot processes of the podocyte MP:0008063 increased otic epithelial cell apoptosis increase in the number of otic epithelial cells undergoing programmed cell death MP:0008064 decreased otic epithelial cell proliferation reduction in the expansion rate of the otic epithelial cell population by cell division MP:0008065 short endolymphatic duct length reduction or truncation of the small membranous canal which connects with both saccule and utricle of the membranous labyrinth, passes through the aqueduct of vestibule, and terminates in the endolymphatic sac MP:0008066 small endolymphatic duct reduced size of the small membranous canal which connects with both saccule and utricle of the membranous labyrinth, passes through the aqueduct of vestibule, and terminates in the endolymphatic sac MP:0008067 retina ganglion cell degeneration degeneration or loss of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain MP:0008068 absent retina ganglion cell absence of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain MP:0008069 abnormal joint mobility anomaly in the ability to move joints in a full range of motion and with ease MP:0008070 absent T cells absence of the lymphocytes that are responsible for cell-mediated immunity and immune system regulation MP:0008071 absent B cells absence of lymphocytes that expresses membrane-bound antibody, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens MP:0008072 absent double-negative T cells absence of the subset of T cells found in the thymus that express neither CD4 nor CD8 MP:0008073 abnormal CD4-positive, alpha-beta T cell number anomaly in the number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production MP:0008074 increased CD4-positive, alpha-beta T cell number greater number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production MP:0008075 decreased CD4-positive, alpha-beta T cell number reduced number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production MP:0008076 abnormal CD4-positive T cell differentiation atypical production of or inability to produce the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production MP:0008077 abnormal CD8-positive, alpha-beta T cell number anomaly in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions MP:0008078 increased CD8-positive, alpha-beta T cell number greater number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions MP:0008079 decreased CD8-positive, alpha-beta T cell number reduction in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions MP:0008080 abnormal CD8-positive, alpha-beta T cell differentiation atypical production of or inability to produce the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions MP:0008081 abnormal single-positive T cell number anomaly in the number of T cells bearing either CD4-positive or CD8-positive markers on their surface MP:0008082 increased single-positive T cell number greater number of T cells bearing either CD4 or CD8 markers on their surface MP:0008083 decreased single-positive T cell number reduced number of T cells bearing either CD4 or CD8 markers on their surface MP:0008084 obsolete absent single-positive T cells absence of T cells bearing either CD4 or CD8 markers on their surface MP:0008085 abnormal T-helper 1 cell number anomaly in the number of the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity MP:0008086 increased T-helper 1 cell number greater number of the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity MP:0008087 decreased T helper 1 cell number reduced number of the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity MP:0008088 abnormal T-helper 1 cell differentiation atypical production of or inability to produce the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity MP:0008089 abnormal T-helper 2 cell number anomaly in the number of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy MP:0008090 increased T-helper 2 cell number greater number of the subset of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy MP:0008091 decreased T-helper 2 cell number reduction in the number of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy MP:0008092 abnormal T-helper 2 cell differentiation atypical production of or inability to produce the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy MP:0008093 abnormal memory B cell number anomaly in the number of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin MP:0008094 absent memory B cells absence of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin MP:0008095 abnormal memory B cell differentiation atypical production of or inability to produce distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin MP:0008096 abnormal plasma cell number anomaly in the number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin MP:0008097 increased plasma cell number greater number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin MP:0008098 decreased plasma cell number reduced number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin MP:0008099 abnormal plasma cell differentiation atypical production of or inability to produce terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin MP:0008100 absent plasma cells absence of the terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin MP:0008101 lymph node hypoplasia decrease in the number of normal cells in normal arrangement in the lymph nodes, typically resulting in decreased size MP:0008102 lymph node hyperplasia increase in the number of normal cells in normal arrangement in the lymph nodes, typically resulting in increased size MP:0008103 amacrine cell degeneration a retrogressive impairment or destruction of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer MP:0008104 abnormal amacrine cell number anomaly in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer MP:0008105 increased amacrine cell number increase in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina MP:0008106 decreased amacrine cell number reduction in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina MP:0008107 absent retina horizontal cells absence of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina MP:0008108 abnormal small intestinal villus morphology any structural anomaly of the tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold MP:0008109 abnormal small intestinal microvillus morphology any structural anomaly of the additional extensions of the villi of the small intestine which protrude from the apical surface of the epithelial cells lining the villi; the microvilli increase the absorptive surface area of the small intestine by approximately 600-fold MP:0008111 abnormal granulocyte differentiation atypical production of or inability to produce leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils MP:0008112 abnormal monocyte differentiation atypical production of or inability to produce the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood MP:0008113 abnormal macrophage differentiation atypical production of or inability to produce the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells MP:0008114 abnormal Kupffer cell morphology any structural anomaly of the phagocytic macrophages residing on the luminal surface of the hepatic sinusoids MP:0008115 abnormal dendritic cell differentiation atypical production of or inability to produce a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation MP:0008117 abnormal Langerhans cell morphology any structural anomaly of a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus MP:0008118 absent Langerhans cell absence of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus MP:0008119 decreased Langerhans cell number reduction in the number of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus MP:0008120 abnormal myeloid dendritic cell number anomaly in the number of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses MP:0008121 increased myeloid dendritic cell number greater number of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses MP:0008122 decreased myeloid dendritic cell number reduction in the number of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses MP:0008123 abnormal plasmacytoid dendritic cell number anomaly in the number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli MP:0008124 decreased plasmacytoid dendritic cell number reduced number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli MP:0008125 abnormal dendritic cell number anomaly in the number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation MP:0008126 increased dendritic cell number greater number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation MP:0008127 decreased dendritic cell number reduction in the number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation MP:0008128 abnormal brain internal capsule morphology any structural anomaly of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord MP:0008129 absent brain internal capsule absence of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord MP:0008130 abnormal pituitary intermediate lobe morphology any structural anomaly of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults MP:0008131 abnormal Peyer's patch number anomaly in the number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles MP:0008132 increased Peyer's patch number greater number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles MP:0008133 decreased Peyer's patch number reduction in the number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles MP:0008134 abnormal Peyer's patch size anomaly in the size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles MP:0008135 small Peyer's patches reduced size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles MP:0008136 enlarged Peyer's patches increased size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles MP:0008137 absent podocytes absence of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane MP:0008138 absent podocyte foot process absence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries MP:0008139 fused podocyte foot processes coalescence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries MP:0008140 podocyte foot process effacement a podocyte reaction to injury or damage characterized by flattening of foot processes due to gradual simplification of the interdigitating foot process; the whole podocyte looks flat due to retraction, widening, and shortening of the processes of each podocyte while the frequency of filtration slits is reduced, giving the appearance of a continuous cytoplasmic sheet covering the glomerular basement membrane MP:0008141 decreased small intestinal microvillus size reduced size of the additional extensions of the villi of the small intestine which protrude from the apical surface of the epithelial cells lining the villi; the microvilli increase the absorptive surface area of the small intestine by approximately 600-fold MP:0008142 decreased small intestinal villus size reduced size of the tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold MP:0008143 abnormal dendrite morphology any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body MP:0008144 nyctalopia decreased ability to see clearly in reduced illumination; often due to a deficiency of vitamin A or to a retinal disorder MP:0008145 hemeralopia reduced ability to see clearly in bright light with night vision remaining unchanged; often due to impaired retinal cone function MP:0008146 asymmetric sternocostal joints loss of bilateral symmetry in rib attachments to the sternum MP:0008147 asymmetric costovertebral joints loss of bilateral symmetry in rib attachments to the vertebral column MP:0008148 abnormal sternocostal joint morphology any anomaly in the normal joining of the ribs to the sternum MP:0008149 abnormal costovertebral joint morphology any anomaly in the normal joining of the ribs to the vertebral column, these connections are made by costovertebral ligaments between the head of the rib and the body of the thoracic vertebra MP:0008150 decreased diameter of long bones reduced width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge MP:0008151 increased diameter of long bones increased width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge MP:0008152 decreased diameter of femur reduced width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge MP:0008153 decreased diameter of fibula reduced width of the cross-sectional distance that extends from one lateral edge of the fibula, through its center and to the opposite lateral edge MP:0008154 decreased diameter of humerus reduced width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge MP:0008155 decreased diameter of radius reduced width of the cross-sectional distance that extends from one lateral edge of the radius, through its center and to the opposite lateral edge MP:0008156 decreased diameter of tibia reduced width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge MP:0008157 decreased diameter of ulna reduced width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge MP:0008158 increased diameter of femur increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge MP:0008159 increased diameter of fibula increased width of the cross-sectional distance that extends from one lateral edge of the fibula, through its center and to the opposite lateral edge MP:0008160 increased diameter of humerus increased width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge MP:0008161 increased diameter of radius increased width of the cross-sectional distance that extends from one lateral edge of the radius, through its center and to the opposite lateral edge MP:0008162 increased diameter of tibia increased width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge MP:0008163 increased diameter of ulna increased width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge MP:0008164 abnormal B-1a B cell morphology any structural anomaly of the B-1 B cell subset bearing the CD5 surface marker MP:0008165 abnormal B-1b B cell morphology any structural anomaly of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell MP:0008166 abnormal B-2 B cell morphology any structural anomaly of a conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells MP:0008167 increased B-1a cell number greater number of the B-1 B cell subset bearing the CD5 surface marker MP:0008168 decreased B-1a cell number reduced number of the B-1 B cell subset bearing the CD5 surface marker MP:0008169 increased B-1b cell number greater number of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell MP:0008170 decreased B-1b cell number reduced number of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell MP:0008171 abnormal mature B cell morphology any structural anomaly of the mature form of a B cell, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex MP:0008172 abnormal follicular B cell morphology any structural anomaly of a resting mature B cell with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes MP:0008173 increased follicular B cell number greater number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes MP:0008174 decreased follicular B cell number reduced number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes MP:0008175 absent follicular B cells absence of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes MP:0008176 abnormal germinal center B cell morphology any structural anomaly of a rapidly cycling mature B cell which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen MP:0008177 increased germinal center B cell number greater number of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen MP:0008178 decreased germinal center B cell number reduced number of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen MP:0008179 absent germinal center B cells absence of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen MP:0008180 abnormal marginal zone B cell morphology any structural anomaly of a CD23-negative, CD21-positive B cell of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL MP:0008181 increased marginal zone B cell number greater number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL MP:0008182 decreased marginal zone B cell number reduced number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL MP:0008183 absent marginal zone B cells absence of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL MP:0008184 abnormal naive B cell morphology any structural anomaly of a mature B cell which has not yet been activated by antigen MP:0008185 decreased naive B cell number reduced number of mature B cells which have not yet been activated by antigen MP:0008186 increased pro-B cell number greater number of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs MP:0008187 absent pro-B cells absence of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs MP:0008188 abnormal transitional stage B cell morphology any structural anomaly of an immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection MP:0008189 increased transitional stage B cell number greater number of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection MP:0008190 decreased transitional stage B cell number reduced number of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection MP:0008191 abnormal follicular B cell physiology abnormal function of a resting mature B cell with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen MP:0008192 abnormal germinal center B cell physiology abnormal function of a rapidly cycling mature B cell which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes MP:0008193 abnormal marginal zone B cell physiology abnormal function of a CD23-negative, CD21-positive B cell of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL MP:0008194 abnormal memory B cell physiology abnormal function of a distinctly differentiated long-lived B cell that is readily activated upon reencounter of its antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin MP:0008195 abnormal professional antigen presenting cell morphology any structural anomaly of a cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response MP:0008196 abnormal follicular dendritic cell morphology any structural anomaly of a cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response MP:0008197 abnormal follicular dendritic cell physiology abnormal function of a cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response MP:0008198 abnormal follicular dendritic cell antigen presentation anomaly in the ability of follicular dendritic cells to process and present antigen to B lymphocytes MP:0008199 increased follicular dendritic cell number greater number of cells with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response MP:0008200 decreased follicular dendritic cell number reduced number of cells with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response MP:0008201 absent follicular dendritic cells absence of cells with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response MP:0008202 absent B-1 B cells absence of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and are enriched for self-reactivity; B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas MP:0008203 absent B-1a cells absence of the B-1 B cell subset bearing the CD5 surface marker MP:0008204 absent B-1b cells absence of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell MP:0008205 absent B-2 B cells absence of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells MP:0008206 increased B-2 B cell number greater number of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells MP:0008207 decreased B-2 B cell number reduced number of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells MP:0008208 decreased pro-B cell number reduced number of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs MP:0008209 decreased pre-B cell number reduced number of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface MP:0008210 increased mature B cell number greater number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex MP:0008211 decreased mature B cell number reduced number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex MP:0008212 absent mature B cells absence of the mature form of a B cell, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex MP:0008213 absent immature B cells absence of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity MP:0008214 increased immature B cell number greater number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity MP:0008215 decreased immature B cell number reduced number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity MP:0008216 absent transitional stage B cells absence of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection MP:0008217 abnormal B cell activation any anomaly in the normal change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific MP:0008218 delayed emergence of vibrissae eruption of the vibrissae from the skin later than expected MP:0008219 abnormal dorsal telencephalic commissure morphology any structural anomaly of the fiber tracts that connect the dorsal region of the two cerebral hemispheres and span the longitudinal fissure, including the corpus callosum and hippocampal commissure MP:0008220 abnormal ventral commissure morphology any structural anomaly of the fiber tracts that connect the ventral region of the two cerebral hemispheres and span the longitudinal fissure, including the anterior and the habenular commissures MP:0008221 abnormal hippocampal commissure morphology any structural anomaly of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side MP:0008222 decreased hippocampal commissure size reduced size of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side MP:0008223 absent hippocampal commissure absence of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side MP:0008224 increased hippocampal commissure size enlarged triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side MP:0008225 abnormal anterior commissure morphology any structural anomaly of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle MP:0008226 decreased anterior commissure size reduced size of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle MP:0008227 absent anterior commissure absence of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle MP:0008228 increased anterior commissure size enlarged round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle MP:0008229 obsolete abnormal pars posterior morphology OBSOLETE. any structural anomaly of the horseshoe-shaped tract that connects the two olfactory bulbs MP:0008230 obsolete abnormal pars anterior morphology OBSOLETE. any structural anomaly of the major forebrain commissure that connects the two temporal lobes of the cortex MP:0008231 abnormal habenular commissure morphology any structural anomaly of the connection between the right and left habenular nuclei; the decussation of fibers of the two striae medullares, forming the dorsal portion of the peduncle of the pineal body MP:0008232 abnormal cingulum morphology any structural anomaly of the white matter fiber bundle that projects from the cingulate gyrus to the entorhinal cortex in the brain MP:0008233 abnormal pro-B cell differentiation atypical production of or inability to produce the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs MP:0008234 absent spleen marginal zone absence of the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens MP:0008235 increased susceptibility to neuronal excitotoxicity greater than normal amount of neuronal cell death following exposure to a neurotoxic compound, such as kainate-induced neuronal cell death mediated via a glutamate excitotoxic process MP:0008236 decreased susceptibility to neuronal excitotoxicity less than normal amount of neuronal cell death following exposure to a neurotoxic compound, such as kainate-induced neuronal cell death mediated via a glutamate excitotoxic process MP:0008237 abnormal ventral coat pigmentation irregular or unusual pigmentation of ventrum hair in relation to control animals MP:0008238 abnormal dorsoventral coat patterning irregular or unusual pigmentation pattern of the dorsal-to-ventral axis compared to control animals MP:0008239 obsolete epigenetic coat coloration OBSOLETE. a range of wild-type and mutant allele coat coloration, from mouse to mouse or coat color mosaicism of an individual mouse, due to differential methylation of the mutation causing element MP:0008240 abnormal spleen marginal zone macrophage morphology any structural anomaly of the cells present in the splenic marginal zone and are involved in the recognition and clearance of material, such as pathogen-derived material, from the splenic circulation MP:0008241 abnormal metallophilic macrophage morphology any structural anomaly of the macrophage cells that surround the white pulp of the spleen, adjacent to the marginal sinus MP:0008242 abnormal perivascular macrophage morphology any structural anomaly of macrophages that line the small blood vessels MP:0008243 abnormal macrophage derived foam cell morphology any structural anomaly of a type of macrophage containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions MP:0008244 abnormal peritoneal macrophage morphology any structural anomaly of a mononuclear phagocyte that develops from bone marrow precursors but is resident in the peritoneum MP:0008245 abnormal alveolar macrophage morphology any structural anomaly of the round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells MP:0008246 abnormal leukocyte morphology any structural anomaly of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue MP:0008247 abnormal mononuclear cell morphology any structural anomaly of a leukocyte with a single non-segmented nucleus in the mature form MP:0008248 abnormal mononuclear phagocyte morphology any structural anomaly of a vertebrate phagocyte with a single nucleus MP:0008249 abnormal common lymphocyte progenitor cell morphology any structural anomaly of a progenitor cell committed to the lymphoid lineage MP:0008250 abnormal myeloid leukocyte morphology any structural anomaly of a cell of the monocyte, granulocyte, or mast cell lineage MP:0008251 abnormal phagocyte morphology any structural anomaly of cells capable of ingesting particulate matter via phagocytosis MP:0008252 abnormal multinucleated phagocyte morphology any structural anomaly of a phagocyte formed by the fusion of mononuclear phagocytes MP:0008253 absent megakaryocytes absence of the giant 50 to 100 micron diameter cells with greatly lobulated nuclei found in the bone marrow; mature blood platelets are released from their cytoplasm MP:0008254 increased megakaryocyte cell number greater number of the giant 50 to 100 micron diameter cells with greatly lobulated nuclei found in the bone marrow; mature blood platelets are released from their cytoplasm MP:0008255 decreased megakaryocyte cell number reduced number of the giant 50 to 100 micron diameter cells with greatly lobulated nuclei found in the bone marrow; mature blood platelets are released from their cytoplasm MP:0008256 abnormal myometrium morphology any structural anomaly of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium MP:0008257 thin myometrium reduced thickness of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium MP:0008258 thin endometrium reduced thickness of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy MP:0008259 abnormal optic disk morphology any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve MP:0008260 abnormal autophagy abnormal catabolic process involving the degradation of a cell's own components through the lysosomal machinery MP:0008261 arrest of male meiosis cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell MP:0008262 abnormal hippocampus region morphology any structural anomaly of a part or parts of the hippocampus that have a particular function MP:0008263 abnormal hippocampus CA1 region morphology any structural anomaly of a cytoarchitectural subregion of the Ammon's horn region of the hippocampal formation consisting primarily of pyramidal neurons; the pyramidal neurons of CA1 receive projections from pyramidal neurons of CA3 via the Schaffer collaterals and send outputs to the entorhinal cortex and to the subiculum MP:0008264 absent hippocampus CA1 region missing the CA1 region of the hippocampus MP:0008265 abnormal hippocampus CA2 region morphology any structural anomaly of the smallest cytoarchitectural subregion of the Ammon's horn region of the hippocampal formation, located between CA3 and CA1, comprised of pyramidal neurons receiving both Schaffer collateral and mossy fiber input MP:0008266 absent hippocampus CA2 region missing the CA2 region of the hippocampus MP:0008267 abnormal hippocampus CA3 region morphology any structural anomaly in the region of the hippocampus proper bounded by the hilus of the dentate gyrus and area CA2, characterized by large pyramidal cells and a dense projection from dentate gyrus granule cell mossy fibers MP:0008268 absent hippocampus CA3 region missing the CA3 region of the hippocampus MP:0008269 abnormal hippocampus CA4 region morphology any structural anomaly of the region of the hippocampal formation that is comprised of mossy cells that primarily receive inputs from granule cells in the dentate gyrus in the form of mossy fibers and from pyramidal cells in CA3, and send outputs into the dentate gyrus MP:0008270 absent hippocampus CA4 region missing the CA4 region of the hippocampus MP:0008271 abnormal bone ossification any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance MP:0008272 abnormal endochondral bone ossification anomaly in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone MP:0008273 abnormal intramembranous bone ossification anomaly in the process of the formation of bone in which osteoblasts secrete a collage-proteoglycan matrix that binds calcium salts and becomes calcified; intramembranous ossification is the way flat bones are formed MP:0008274 failure of bone ossification failure to initiate or a block in the process of the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance MP:0008275 failure of endochondral bone ossification failure to initiate or a block in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone MP:0008276 failure of intramembranous bone ossification failure to initiate or a block in the process of the formation of bone in which osteoblasts secrete a collage-proteoglycan matrix that binds calcium salts and becomes calcified; intramembranous ossification is the way flat bones are formed MP:0008277 abnormal sternum ossification anomaly in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone MP:0008278 failure of sternum ossification failure to initiate or a block in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone MP:0008279 arrest of spermiogenesis block in the process by which a spermatid transforms into a functional spermatozoon MP:0008280 abnormal male germ cell apoptosis change in the timing or the number of male germ cells undergoing programmed cell death MP:0008281 abnormal hippocampus size anomaly in the size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation MP:0008282 enlarged hippocampus increased size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation MP:0008283 small hippocampus reduced size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation MP:0008284 abnormal hippocampus pyramidal cell layer any structural anomaly of the cytoarchitectural term denoting the layer of the hippocampus in which pyramidal cells are predominant. Its location is superficial to the Stratum oriens; it is deep to the Stratum radiatum in area CA1 and area CA2 and deep to the Stratum lucidum in area CA3 MP:0008285 abnormal hippocampus granule cell layer any structural anomaly in the layer of the hippocampus composed primarily of granule cells MP:0008286 abnormal hippocampus molecular cell layer any structural anomaly of the cytoarchitectural region of the hippocampus consisting of a composite of the two outermost layers of the hippocampus, the Stratum lacunosum-moleculare and the Stratum radiatum MP:0008287 abnormal subiculum morphology any structural anomaly of the transitional zone between the parahippocampal gyrus and the Ammon gyrus MP:0008288 abnormal adrenal cortex morphology any structural anomaly of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone MP:0008289 abnormal adrenal medulla morphology any structural anomaly of the inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine MP:0008290 absent adrenal cortex absence of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone MP:0008291 abnormal adrenocortical cell morphology any structural anomaly of the steroid hormone-producing cells of the cortex of the adrenal gland MP:0008292 enlarged adrenocortical cell nuclei nuclei of the cells of the cortex of the adrenal gland are larger than normal MP:0008293 abnormal adrenal gland zona glomerulosa morphology any structural anomaly of the narrow subcapsular outer zone of the adrenal cortex where aldosterone is produced MP:0008294 abnormal adrenal gland zona fasciculata morphology any structural anomaly of the wide middle zone of the adrenal cortex that produces cortisol (hydrocortisone) MP:0008295 abnormal adrenal gland zona reticularis morphology any structural anomaly of the inner zone of the adrenal cortex that produces the enzymes that convert pregnenolone, a 21-carbon steroid, to 19-carbon steroids MP:0008296 abnormal adrenal gland x-zone morphology any structural anomaly of the transient cortical layer juxtaposed to the medulla and the zona reticularis; in males, this zone rapidly involutes at the onset of puberty whereas this zone persists in females until the first pregnancy or later in adulthood in non-pregnant females MP:0008297 retention of the adrenal gland x-zone failure of the transient cortical layer juxtaposed to the medulla and the zona reticularis to degenerate after puberty in males or after pregnancy in females MP:0008298 adrenergic chromaffin cell hyperplasia an increase in the number of the cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion MP:0008299 adrenal cortical hyperplasia increase in the number of normal cells in normal arrangement in the adrenal cortex, typically resulting in increased size MP:0008300 enlarged adrenal medulla increased size of the inner portion of the adrenal gland that consists mainly of chromaffin cells MP:0008301 adrenal medulla hyperplasia increase in the number of normal cells in normal arrangement in the adrenal medulla, typically resulting in increased size MP:0008302 thin adrenal cortex reduced thickness of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone MP:0008303 early degeneration of the adrenal gland x-zone degeneration of the transient cortical layer juxtaposed to the medulla and the zona reticularis prior to the expected time; in males, this zone rapidly involutes at the onset of puberty whereas this zone persists in females until the first pregnancy or later in adulthood in non-pregnant females MP:0008304 abnormal organ of Corti supporting cell differentiation atypical production of or inability to produce the highly differentiated epithelial cells with distinctive morphological features that surround the hair cells in the organ of Corti MP:0008305 abnormal organ of Corti supporting cell physiology any functional anomaly in processes pertinent to the integrated function of the highly differentiated epithelial cells with distinctive morphological features that surround the hair cells in the organ of Corti MP:0008306 abnormal organ of Corti supporting cell proliferation aberrant timing or any anomaly in the ability of supporting cells in the organ of Corti to undergo expansion by cell division MP:0008307 short scala media reduced length of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani MP:0008308 small scala media reduced size of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani MP:0008309 dilated scala media stretched or widened aperture of the luminal space of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani MP:0008310 abnormal sympathetic preganglionic fiber morphology any structural anomaly of any or all of the cholinergic axonal fibers projecting from the CNS to a sympathetic ganglion MP:0008311 abnormal parasympathetic preganglionic fiber morphology any structural anomaly of any or all of the cholinergic axonal fibers projecting from the CNS to a parasympathetic ganglion MP:0008312 abnormal sympathetic postganglionic fiber morphology any structural anomaly of any or all of the noradrenergic and some adrenergic axonal fibers projecting from a sympathetic ganglion to an effector organ MP:0008313 abnormal parasympathetic postganglionic fiber morphology any structural anomaly of any or all of the cholinergic axonal fibers projecting from a parasympathetic ganglion to an effector organ MP:0008314 abnormal pterygopalatine ganglion morphology any structural anomaly of the small parasympathetic ganglion that supplies nerve fibers to the lacrimal, nasal, palatine and pharyngeal glands MP:0008315 abnormal otic ganglion morphology any structural anomaly of the ganglion that supplies nerve fibers to the parotid gland MP:0008316 abnormal prevertebral ganglion morphology any structural anomaly of the sympathetic ganglia located in front of the vertebral column and are associated with the major branches of the abdominal aorta; these include the celiac, aorticorenal, superior and inferior mesenteric ganglia MP:0008317 abnormal paravertebral ganglion morphology any structural anomaly of the groups of postsynaptic neurons located at intervals along the sympatheic trunk, including the superior cervical, middle cervical and stellate (cervicothoracic) ganglia as well as the thoracic, lumbar and sacral ganglia MP:0008318 abnormal splanchnic nerve morphology any structural anomaly of the major nerves supplying sympathetic innervation to the abdomen, including the greater, lesser, and lowest (or smallest) splanchnic nerves that are formed by preganglionic fibers from the spinal cord, which pass through the paravertebral ganglia and then to the celiac ganglia and plexuses, and the lumbar splanchnic nerves carry fibers which pass through the lumbar paravertebral ganglia to the mesenteric and hypogastric ganglia MP:0008319 abnormal sympathetic afferent fiber morphology any structural anomaly of the fibers that conduct sensory nerve impulses from the viscera through the posterior dorsal roots into the spinal cord MP:0008320 absent adenohypophysis absence of the anterior part of the pituitary that secretes a variety of hormones MP:0008321 small adenohypophysis reduced size of the anterior part of the pituitary that secretes a variety of hormones MP:0008322 abnormal somatotroph morphology any structural anomaly of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin MP:0008323 abnormal lactotroph morphology any structural anomaly of an acidophilic cell of the anterior pituitary that produces prolactin MP:0008324 abnormal melanotroph morphology any structural anomaly of a cell of the intermediate pituitary that produces melanocyte stimulating hormone and other peptides from the post-translational processing of pro-opiomelanocortin (POMC) MP:0008325 abnormal gonadotroph morphology any structural anomaly of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) MP:0008326 abnormal thyrotroph morphology any structural anomaly of an anterior pituitary cell that produces thyroid-stimulating hormone MP:0008327 abnormal corticotroph morphology any structural anomaly of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) MP:0008328 increased somatotroph cell number greater number of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin MP:0008329 decreased somatotroph cell number reduced number of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin MP:0008330 absent somatotrophs absence of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin MP:0008331 increased lactotroph cell number greater number of an acidophilic cell of the anterior pituitary that produces prolactin MP:0008332 decreased lactotroph cell number reduced number of an acidophilic cell of the anterior pituitary that produces prolactin MP:0008333 absent lactotrophs absence of an acidophilic cell of the anterior pituitary that produces prolactin MP:0008334 increased gonadotroph cell number greater number of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) MP:0008335 decreased gonadotroph cell number reduced number of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) MP:0008336 absent gonadotrophs absence of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) MP:0008337 increased thyrotroph cell number greater number of an anterior pituitary cell that produces thyroid-stimulating hormone MP:0008338 decreased thyrotroph cell number reduced number of an anterior pituitary cell that produces thyroid-stimulating hormone MP:0008339 absent thyrotrophs absence of an anterior pituitary cell that produces thyroid-stimulating hormone MP:0008340 increased corticotroph cell number greater number of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) MP:0008341 decreased corticotroph cell number reduced number of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) MP:0008342 absent corticotrophs absence of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) MP:0008343 abnormal gamma-delta T cell morphology any structural anomaly of an immature or mature T cell expressing an gamma-delta T cell receptor complex MP:0008344 abnormal mature gamma-delta T cell morphology any structural anomaly of a mature T cell expressing an gamma-delta T cell receptor complex MP:0008345 abnormal gamma-delta T cell number anomaly in the number of immature or mature T cells expressing an gamma-delta T cell receptor complex MP:0008346 increased gamma-delta T cell number greater number of immature or mature T cells expressing an gamma-delta T cell receptor complex MP:0008347 decreased gamma-delta T cell number reduced number of immature or mature T cells expressing an gamma-delta T cell receptor complex MP:0008348 absent gamma-delta T cells absence of immature or mature T cells expressing an gamma-delta T cell receptor complex MP:0008349 abnormal gamma-delta intraepithelial T cell morphology any structural anomaly of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements MP:0008350 increased gamma-delta intraepithelial T cell number greater number of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements MP:0008351 decreased gamma-delta intraepithelial T cell number reduced number of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements MP:0008352 absent gamma-delta intraepithelial T cell absence of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements MP:0008353 increased mature gamma-delta T cell number increased number of a mature T cell expressing an gamma-delta T cell receptor complex MP:0008354 decreased mature gamma-delta T cell number reduced number of a mature T cell expressing an gamma-delta T cell receptor complex MP:0008355 absent mature gamma-delta T cells absence of a mature T cell expressing an gamma-delta T cell receptor complex MP:0008356 abnormal gamma-delta T cell differentiation atypical production of or inability to produce gamma-delta T cells, and/or accumulation of gamma-delta T cell precursors MP:0008357 abnormal CD4-positive, gamma-delta intraepithelial T cell morphology any structural anomaly of a CD4-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements MP:0008358 increased CD4-positive, gamma-delta intraepithelial T cell number greater number of a CD4-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements MP:0008359 decreased CD4-positive, gamma-delta intraepithelial T cell number reduced number of a CD4-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements MP:0008360 absent CD4-positive, gamma-delta intraepithelial T cells absence of a CD4-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements MP:0008361 abnormal CD8-positive, gamma-delta intraepithelial T cell morphology any structural anomaly of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements MP:0008362 increased CD8-positive, gamma-delta intraepithelial T cell number greater number of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements MP:0008363 decreased CD8-positive, gamma-delta intraepithelial T cell number reduced number of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements MP:0008364 absent CD8-positive, gamma-delta intraepithelial T cells absence of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements MP:0008365 adenohypophysis hypoplasia decrease in the number of normal cells in normal arrangement in the adenohypophysis, typically resulting in decreased size MP:0008366 enlarged adenohypophysis increased size of the anterior part of the pituitary that secretes a variety of hormones MP:0008367 absent pituitary intermediate lobe absence of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults MP:0008368 small pituitary intermediate lobe reduced size of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults MP:0008369 pituitary intermediate lobe hypoplasia decrease in the number of normal cells in normal arrangement in the pituitary intermediate lobe, typically resulting in decreased size MP:0008370 enlarged pituitary intermediate lobe increased size of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults MP:0008371 pituitary intermediate lobe hyperplasia increase in the number of normal cells in normal arrangement in the pituitary intermediate lobe, typically resulting in increased size MP:0008372 small malleus reduced size of the largest of the three auditory ossicles, which resembles a club or hammer MP:0008373 short malleus reduced length of the largest of the three auditory ossicles, which resembles a club or hammer MP:0008374 abnormal malleus manubrium morphology any structural anomaly in the handle of the malleus, which extends downward, inward, and backward from the neck of the malleus and is embedded throughout its length in the tympanic membrane MP:0008375 short malleus manubrium reduced length of the handle of the malleus MP:0008376 small malleus manubrium reduced size of the handle of the malleus MP:0008377 absent malleus manubrium absence of the handle of the malleus MP:0008378 small malleus processus brevis reduced size of the projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane MP:0008379 absent malleus head absence of the rounded portion of the malleus articulating with the body of the incus MP:0008380 abnormal gonial bone morphology any structural anomaly of the investing bone that lies on the surface of the malleus MP:0008381 absent gonial bone absence of the investing bone that normally lies on the surface of the malleus MP:0008382 gonial bone hypoplasia decrease in the number of normal cells in normal arrangement in the gonial bone, typically resulting in decreased size MP:0008383 enlarged gonial bone increased size of the investing bone that lies on the surface of the malleus MP:0008384 absent nasal capsule absence of the cartilage around the developing nasal cavity of the embryo MP:0008385 absent basisphenoid bone absence of the part of the base of the cranium found between the basioccipital and the presphenoid bone MP:0008386 absent styloid process absence of the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone to join the tympanic portion MP:0008387 hypochromic anemia hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, resulting in insufficient oxygenation of tissues and organs MP:0008388 hypochromic microcytic anemia hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal MP:0008389 hypochromic macrocytic anemia hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is larger than normal MP:0008390 abnormal primordial germ cell proliferation anomaly in the ability of the primordial germ cell population to undergo rapid expansion by cell division MP:0008391 abnormal primordial germ cell morphology any structural anomaly of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge MP:0008392 decreased primordial germ cell number reduced number of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge MP:0008393 absent primordial germ cells absence of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge MP:0008394 increased primordial germ cell number greater number of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge MP:0008395 abnormal osteoblast differentiation atypical production of or inability to produce skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell MP:0008396 abnormal osteoclast differentiation atypical production of or inability to produce the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue MP:0008397 abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology any structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release MP:0008398 abnormal CD8-positive, alpha-beta regulatory T cell morphology any structural anomaly of a CD8-positive, alpha-beta T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release MP:0008399 abnormal alpha-beta intraepithelial T cell morphology any structural anomaly of an alpha-beta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements MP:0008400 abnormal CD4-positive, alpha-beta intraepithelial T cell morphology any structural anomaly of a CD4-positive, alpha-beta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements MP:0008401 abnormal CD8 positive, alpha-beta intraepithelial T cell morphology any structural anomaly of a CD8-positive, alpha-beta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements MP:0008402 increased cellular sensitivity to alkylating agents greater incidence of cell death following exposure to agents that cause DNA damage via the addition of alkyl groups to any or all of the bases of DNA MP:0008403 decreased cellular sensitivity to alkylating agents reduced incidence of cell death following exposure to agents that cause DNA damage via the addition of alkyl groups to any or all of the bases of DNA MP:0008404 increased cellular sensitivity to methylmethanesulfonate greater incidence of cell death following exposure to methylmethanesulfonate MP:0008405 decreased cellular sensitivity to methylmethanesulfonate reduced incidence of cell death following exposure to methylmethanesulfonate MP:0008406 increased cellular sensitivity to hydrogen peroxide greater incidence of cell death following exposure to hydrogen peroxide MP:0008407 decreased cellular sensitivity to hydrogen peroxide reduced incidence of cell death following exposure to hydrogen peroxide MP:0008408 decreased cellular sensitivity to hydroxyurea reduced incidence of cell death following exposure to hydroxyurea MP:0008409 increased cellular sensitivity to hydroxyurea greater incidence of cell death following exposure to hydroxyurea MP:0008410 increased cellular sensitivity to ultraviolet irradiation greater incidence of cell death following exposure to ultraviolet irradiation MP:0008411 decreased cellular sensitivity to ultraviolet irradiation reduced incidence of cell death following exposure to ultraviolet irradiation MP:0008412 increased cellular sensitivity to oxidative stress greater incidence of cell death or enhanced production of reactive oxygen species after exposure to a variety of stress conditions including ionizing radiation, exposure to xenobiotics, inflammation, and phagocytosis MP:0008413 decreased cellular sensitivity to oxidative stress reduced incidence of cell death or enhanced production of reactive oxygen species after exposure to a variety of stress conditions including ionizing radiation, exposure to xenobiotics, inflammation, and phagocytosis MP:0008414 abnormal spatial reference memory anomaly in the ability to recall spatial location information from previous encounters or training sessions in order to navigate or perform other behavior using such location cues MP:0008415 abnormal neurite morphology any structural anomaly of a neuronal process, either a dendrite or an axon in vivo, or a filamentous projection from a neuron such as is seen in tissue culture MP:0008416 increased somatotroph cell size excessive growth or enlargement of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin MP:0008417 decreased somatotroph cell size reduced growth or small size of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin MP:0008418 abnormal cutaneous elastic fiber morphology any structural anomaly of the slender connective tissue fiber in the extracellular matrix of skin tissue that is composed of microfibrils and amorphous elastin and is characterized by great elasticity MP:0008419 abnormal cutaneous microfibril morphology any structural anomaly of the fiber-like strand of fibrillin that forms the scaffold of the cutaneous elastic fibers found in the extracellular matrix of the skin MP:0008420 increased thyrotroph cell size excessive growth or enlargement of an anterior pituitary cell that produces thyroid-stimulating hormone MP:0008421 decreased thyrotroph cell size reduced growth or small size of an anterior pituitary cell that produces thyroid-stimulating hormone MP:0008422 increased lactotroph cell size excessive growth or enlargement of an acidophilic cell of the anterior pituitary that produces prolactin MP:0008423 decreased lactotroph cell size reduced growth or small size of an acidophilic cell of the anterior pituitary that produces prolactin MP:0008424 increased gonadotroph cell size excessive growth or enlargement of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) MP:0008425 decreased gonadotroph cell size reduced growth or small size of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) MP:0008426 increased corticotroph cell size excessive growth or enlargement of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) MP:0008427 decreased corticotroph cell size reduced growth or small size of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) MP:0008428 abnormal spatial working memory anomaly in the ability to spontaneously process spatial location information in order to navigate or perform other behavior using such location cues, without previous encounters or training at that location MP:0008429 absent parotid gland absence of the largest of the major salivary glands situated below and in front of each ear MP:0008430 short temporal bone squamous part length reduction of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault MP:0008431 abnormal short-term spatial reference memory anomaly in the short-term memory for spatial location information that is established during the first few minutes after training or an encounter at that location MP:0008432 abnormal long-term spatial reference memory anomaly in long-term memory for spatial location information that is consolidated over hours and days after training or an encounter at that location MP:0008433 abnormal somatotroph cell nucleus any structural anomaly of a somatotroph cell nucleus MP:0008434 small somatotroph cell nucleus decreased size of a somatotroph cell nucleus MP:0008435 large somatotroph cell nucleus increased size of a somatotroph cell nucleus MP:0008436 decreased somatotroph secretory granule number decreased number of vesicles derived from the golgi that contain somatotropin growth hormone to be released at the cell surface MP:0008437 absent somatotroph secretory granules absence of vesicles derived from the golgi that contain somatotropin growth hormone to be released at the cell surface MP:0008438 abnormal cutaneous collagen fibril morphology any structural anomaly of the connective tissue bundles in the extracellular matrix of skin tissue that are composed of collagen, and play a role in skin strength and elasticity MP:0008439 abnormal cortical plate morphology any structural anomaly of the outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers MP:0008440 abnormal subplate morphology any structural anomaly of the transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate MP:0008441 thin cortical plate reduced thickness of the outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers MP:0008442 disorganized cortical plate derangement of the patterned arrangement of the cortical plate MP:0008443 absent subplate absence of the transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate MP:0008444 retina cone cell degeneration a retrogressive impairment of function or destruction of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment MP:0008445 increased retina cone cell number greater number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment MP:0008446 decreased retina cone cell number reduced number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment MP:0008447 absent retina cone cells absence of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment MP:0008448 abnormal retina cone cell inner segment morphology any structural anomaly of the retinal cone cell region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region MP:0008449 abnormal retina cone cell outer segment morphology any structural anomaly of the retinal cone cell region in which the visual pigment rhodopsin is in invaginations of the cell membrane MP:0008450 retina photoreceptor degeneration a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina MP:0008451 retina rod cell degeneration a retrogressive impairment of function or destruction of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane MP:0008452 increased retina rod cell number greater number of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane MP:0008453 decreased retina rod cell number reduced number of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane MP:0008454 absent retina rod cells absence of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane MP:0008455 abnormal retina rod cell inner segment morphology any structural anomaly of the retinal rod cell region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region MP:0008456 abnormal retina rod cell outer segment morphology any structural anomaly of the retinal rod cell region which contains stacks of membranous discs separate from the outer cell membrane that are rich in the visual pigment rhodopsin MP:0008457 abnormal cortical intermediate zone morphology any structural anomaly of the region of the developing mammalian cortex that extends between the ventricular zone and the cortical plate (CP); normally, the IZ is a region of tangential migration of cells, and at midgestation, the lower part of the IZ develops into the subventricular zone MP:0008458 abnormal cortical ventricular zone morphology any structural anomaly of a transient region of the developing cerebral cortex that contains migrating neurons, radial glial cells, and a large population of cycling multipotent neural stem cells that generate newborn neurons MP:0008459 abnormal circulating pancreatic peptide level anomaly in the amount of the 36-amino acid pancreatic hormone in the blood that is secreted mainly by endocrine cells found at the periphery of the islets of Langerhans in response to ingestions, and regulates gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite MP:0008460 absent dorsal root ganglion absence of the groups of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column MP:0008461 left atrial isomerism anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the left side of the body MP:0008462 abnormal medium spiny neuron morphology any structural anomaly of the inhibitory projection neurons located in the striatum that integrate glutamatergic signals arising from the cerebral cortex and thalamus MP:0008463 abnormal peripheral lymph node morphology any structural anomaly of the lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes MP:0008464 absent peripheral lymph nodes absence of the lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes MP:0008465 absent mesenteric lymph nodes absence of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group MP:0008466 enlarged mesenteric lymph nodes increased size of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group MP:0008467 absent proprioceptive neurons absence of the sensory neurons of the dorsal root ganglia that sense body position and send information about how much the muscle is stretched to the spinal cord MP:0008468 absent muscle spindles absence of the sensory organs in muscle that are involved in the stretch reflex MP:0008469 abnormal protein level anomaly in the amount of any of the macromolecules consisting of long chains of amino acids in peptide linkage MP:0008470 abnormal spleen B cell follicle morphology any structural anomaly of the area of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur MP:0008471 abnormal spleen primary B follicle morphology any structural anomaly of the nodules of small undifferentiated B lymphocytes and follicular dendritic cells located in the spleen white pulp MP:0008472 abnormal spleen secondary B follicle morphology any structural anomaly of the nodules of antigen-activated, differentiating B cells, follicular dendritic cells, antigen-presenting T cells and macrophages in the spleen white pulp MP:0008473 abnormal spleen follicular dendritic cell network any structural anomaly of the enmeshed group of antigen presenting cells with extensive dendritic processes in the spleen B cell follicle that present antigen to B cells during an immune response MP:0008474 absent spleen germinal center absence of the area of the spleen secondary B follicle where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs MP:0008475 intermingled spleen red and white pulp no clear demarcation of the spleen red and white pulp tissue MP:0008476 increased spleen red pulp amount increase in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation MP:0008477 decreased spleen red pulp amount reduction in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation MP:0008478 increased spleen white pulp amount increase in the quantity of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies MP:0008479 decreased spleen white pulp amount reduction in the quantity of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies MP:0008480 absent eye pigmentation absence of melanin (pigment) in the eye either due to absent melanocytes or failure of melanin synthesis MP:0008481 increased spleen germinal center number greater number of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs MP:0008482 decreased spleen germinal center number reduced number of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs MP:0008483 increased spleen germinal center size greater size of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs MP:0008484 decreased spleen germinal center size reduced size of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs MP:0008485 increased muscle spindle number greater number of the sensory organs in muscle that are involved in the stretch reflex MP:0008486 decreased muscle spindle number reduced number of the sensory organs in muscle that are involved in the stretch reflex MP:0008487 abnormal mesonephros morphology any structural anomaly of the excretory organ of the embryo, collective Wolffian tubules, which forms the urogenital fold from which the reproductive organs develop MP:0008488 abnormal semicircular canal ampulla morphology any structural anomaly of the spherical enlargement at the base of each semicircular canal where they connect with the utricle, containing the crista ampullaris which detects movement of the fluid within the canals MP:0008489 slow postnatal weight gain the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults MP:0008490 enlarged dorsal root ganglion increased size a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column MP:0008491 dorsal root ganglion hyperplasia increase in the number of normal cells in normal arrangement in the dorsal root ganglion, typically resulting in increased size MP:0008492 dorsal root ganglion degeneration retrogressive pathological change of a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column MP:0008493 alpha-synuclein inclusion body formation of aggregates of the alpha-synuclein protein in neural and glial tissue; often seen in neurodegenerative disorders such as Parkinson's disease MP:0008494 absence of all nails absence of all of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits MP:0008495 decreased IgG1 level less than normal immunoglobulin class G1 level MP:0008496 decreased IgG2a level less than normal immunoglobulin class G2a level MP:0008497 decreased IgG2b level less than normal immunoglobulin class G2b level MP:0008498 decreased IgG3 level less than normal immunoglobulin class G3 level MP:0008499 increased IgG1 level greater than normal immunoglobulin class G1 level MP:0008500 increased IgG2a level greater than normal immunoglobulin class G2a level MP:0008501 increased IgG2b level greater than normal immunoglobulin class G2b level MP:0008502 increased IgG3 level greater than normal immunoglobulin class G3 level MP:0008503 abnormal spinal cord grey matter morphology any structural anomaly of the ridge-shaped grey matter of the spinal cord that extends longitudinally through the center of each half of the spinal cord, and are largely or entirely composed of nerve cell bodies and their dendrites and some supportive tissue MP:0008504 abnormal adrenal chromaffin cell morphology any structural anomaly of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine and norepinephrine secretion MP:0008505 absent adrenal chromaffin cells absence of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine and norepinephrine secretion MP:0008506 abnormal noradrenergic chromaffin cell morphology any structural anomaly of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for norepinephrine secretion MP:0008507 thin retina ganglion layer reduced thickness of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain MP:0008508 thick retina ganglion layer increased thickness of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain MP:0008509 disorganized retina ganglion layer derangement of the pattern of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain MP:0008510 absent retina ganglion layer absence of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain MP:0008511 thin retina inner nuclear layer reduced thickness of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells MP:0008512 disorganized retina inner nuclear layer derangement of the normal pattern of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells MP:0008513 thin retina inner plexiform layer reduced thickness of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites MP:0008514 absent retina inner plexiform layer absence of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites MP:0008515 thin retina outer nuclear layer reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones MP:0008516 disorganized retina outer nuclear layer derangement of the normal pattern of the retinal layer that contains the nuclei and cell bodies of rods and cones MP:0008517 thick retina outer nuclear layer increased thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones MP:0008518 retina outer nuclear layer degeneration a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones MP:0008519 thin retina outer plexiform layer reduced thickness of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites) MP:0008520 disorganized retina outer plexiform layer a derangement of the normal pattern of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites) MP:0008521 abnormal Bowman membrane morphology any structural anomaly of the layer of acellular matrix that lies beneath the corneal epithelium and above the corneal stroma, consists of randomly arranged collagen fibers in a condensed bed of intercellular substance, and provides stability and strength to the cornea MP:0008522 abnormal lymph node germinal center morphology any structural anomaly of the area of the lymph node secondary follicle where antigen-activated B-cell blasts are stimulated by antigens and proliferate, with the immunoglobulin genes undergoing somatic hypermutation, before the cells migrate away as plasma cells or memory cells MP:0008523 absent lymph node germinal center absence of the area of the lymph node secondary follicle where antigen-activated B-cell blasts are stimulated by antigens and proliferate, with the immunoglobulin genes undergoing somatic hypermutation, before the cells migrate away as plasma cells or memory cells MP:0008524 increased plasmacytoid dendritic cell number greater number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli MP:0008525 decreased cranium height decrease in the rostral-caudal distance between the cranial base and the upper domelike portion of the skull MP:0008526 decreased cranium width having a decreased side-to-side, or lateral distance of the cranium MP:0008527 embryonic lethality at implantation death due to failure of implantation (Mus: E4.5) MP:0008528 polycystic kidney presence of multiple fluid-filled cysts in one or both kidneys MP:0008529 enlarged optic nerve increased size of the second cranial nerve which is responsible for conveying visual information from the retina to the brain; it extends from the retina to the optic chiasma where part of its fibers become the optic tract and cross to the opposite side and pass to the geniculate bodies MP:0008530 abnormal rostral-caudal patterning of the somites anomaly in the developmental pattern of the somites along the axis that runs from the rostral to the caudal region of the body MP:0008531 increased chemical nociceptive threshold a greater than average concentration at which chemically induced pain sensation is first detectable MP:0008532 decreased chemical nociceptive threshold a lower than average concentration at which chemically induced pain sensation is first detectable MP:0008533 abnormal anterior visceral endoderm morphology any structural anomaly of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue MP:0008534 enlarged fourth ventricle increased size of the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space MP:0008535 enlarged lateral ventricles increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle MP:0008536 enlarged third ventricle increased size of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina MP:0008537 increased susceptibility to induced colitis increased severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) MP:0008538 decreased zigzag hair amount reduced number of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla MP:0008539 decreased susceptibility to induced colitis decreased severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) MP:0008540 abnormal cerebral hemisphere morphology any structural anomaly of the largest part of the brain; the cerebrum is composed of a right and a left hemisphere each which contains an outer cerebral cortex and a subcortical basal ganglia; cerebral functions include sensorimotor, emotional, and intellectual activities MP:0008541 leukostasis abnormal intravascular leukocyte aggregation and clumping most commonly seen in the brain and lungs of organisms with leukemia, often with an excess of leukocytes in the blood MP:0008542 enlarged cervical lymph nodes increased size of the lymph nodes found near the neck and shoulders MP:0008543 atrial fibrillation asynchronous contraction or quivering of individual cardiac muscle fibers in the atria MP:0008544 impaired olfaction reduced ability to detect odors MP:0008545 absent sperm flagellum absence of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility MP:0008546 abnormal vesicle-mediated transport anomaly in the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell MP:0008547 abnormal neocortex morphology any structural anomaly of the larger part of the mammalian cerebral cortex, distinguished from the allocortex by being composed of a larger number of nerve cells arranged in six layers MP:0008548 abnormal circulating interferon level anomaly in the amount in the blood of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions MP:0008549 abnormal circulating interferon-alpha level anomaly in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells MP:0008550 abnormal circulating interferon-beta level anomaly in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity MP:0008551 abnormal circulating interferon-gamma level anomaly in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation MP:0008552 abnormal circulating tumor necrosis factor level anomaly in the amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium MP:0008553 increased circulating tumor necrosis factor level greater amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium MP:0008554 decreased circulating tumor necrosis factor level reduction in the amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium MP:0008555 abnormal interferon secretion anomaly in the production or release of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions MP:0008556 abnormal tumor necrosis factor secretion anomaly in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium MP:0008557 abnormal interferon-alpha secretion anomaly in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells MP:0008558 abnormal interferon-beta secretion anomaly in the production or release of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity MP:0008559 abnormal interferon-gamma secretion anomaly in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation MP:0008560 increased tumor necrosis factor secretion increase in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium MP:0008561 decreased tumor necrosis factor secretion reduction in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium MP:0008562 increased interferon-alpha secretion increase in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells MP:0008563 decreased interferon-alpha secretion decrease in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells MP:0008564 increased interferon-beta secretion increase in the production or release of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity MP:0008565 decreased interferon-beta secretion reduction in the production or release of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity MP:0008566 increased interferon-gamma secretion increase in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation MP:0008567 decreased interferon-gamma secretion reduction in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation MP:0008568 abnormal interleukin secretion anomaly in the production or cellular release of soluble factors which stimulate growth-related activities of leukocytes and other cell types, that can act to enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli MP:0008569 lethality at weaning premature death at weaning age, often due to the inability to make the transition to solid food MP:0008570 lipidosis abnormal fat metabolism with increased accumulation of specific lipids in tissue MP:0008571 abnormal synaptic bouton morphology any structural anomaly of the knoblike enlargements along the course of axons, or more commonly at the distal terminations of axons which are specialized for the release of neurotransmitters MP:0008572 abnormal Purkinje cell dendrite morphology any structural anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer MP:0008573 increased circulating interferon-alpha level increase in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells MP:0008574 decreased circulating interferon-alpha level reduction in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells MP:0008575 increased circulating interferon-beta level increase in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity MP:0008576 decreased circulating interferon-beta level reduction in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity MP:0008577 increased circulating interferon-gamma level increase in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation MP:0008578 decreased circulating interferon-gamma level reduction in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation MP:0008579 abnormal Purkinje cell differentiation atypical production of or inability to produce the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex MP:0008580 photoreceptor inner segment degeneration retrogressive pathologic change in the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region MP:0008581 disorganized photoreceptor inner segment derangement of the pattern of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region MP:0008582 short photoreceptor inner segment decreased length of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region MP:0008583 absent photoreceptor inner segment absence of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region MP:0008584 photoreceptor outer segment degeneration retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin MP:0008585 absent photoreceptor outer segment absence of the photoreceptor region that is rich in the visual pigment rhodopsin MP:0008586 disorganized photoreceptor outer segment derangement of the pattern of the photoreceptor region that is rich in the visual pigment rhodopsin MP:0008587 short photoreceptor outer segment decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin MP:0008588 abnormal circulating interleukin level anomaly in the amount in the blood of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types; they enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli MP:0008589 abnormal circulating interleukin-1 level anomaly in the amount in the blood of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens MP:0008590 abnormal circulating interleukin-10 level anomaly in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation MP:0008591 increased circulating interleukin-1 level increase in the amount in the blood of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens MP:0008592 decreased circulating interleukin-1 level reduction in the amount in the blood of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens MP:0008593 increased circulating interleukin-10 level increase in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation MP:0008594 decreased circulating interleukin-10 level reduction in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation MP:0008595 abnormal circulating interleukin-6 level anomaly in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts MP:0008596 increased circulating interleukin-6 level increase in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts MP:0008597 decreased circulating interleukin-6 level reduction in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts MP:0008598 abnormal circulating interleukin-2 level anomaly in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes MP:0008599 increased circulating interleukin-2 level increase in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes MP:0008600 decreased circulating interleukin-2 level reduction in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes MP:0008601 abnormal circulating interleukin-4 level anomaly in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells MP:0008602 increased circulating interleukin-4 level increase in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells MP:0008603 decreased circulating interleukin-4 level reduction in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells MP:0008604 abnormal circulating interleukin-7 level anomaly in the amount in the blood of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation MP:0008605 increased circulating interleukin-7 level increase in the amount in the blood of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation MP:0008606 decreased circulating interleukin-7 level reduction in the amount in the blood of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation MP:0008607 abnormal circulating interleukin-13 level anomaly in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses MP:0008608 increased circulating interleukin-13 level increase in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses MP:0008609 decreased circulating interleukin-13 level reduction in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses MP:0008610 abnormal circulating interleukin-15 level anomaly in the amount in the blood of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 MP:0008611 increased circulating interleukin-15 level increase in the amount in the blood of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 MP:0008612 decreased circulating interleukin-15 level reduction in the amount in the blood of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 MP:0008613 abnormal circulating interleukin-17 level anomaly in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors MP:0008614 increased circulating interleukin-17 level increase in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors MP:0008615 decreased circulating interleukin-17 level reduction in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors MP:0008616 abnormal circulating interleukin-12 level anomaly in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells MP:0008617 increased circulating interleukin-12 level increase in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells MP:0008618 decreased circulating interleukin-12 level reduction in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells MP:0008619 abnormal circulating interleukin-23 level anomaly in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells MP:0008620 increased circulating interleukin-23 level increase in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells MP:0008621 decreased circulating interleukin-23 level reduction in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells MP:0008622 abnormal circulating interleukin-3 level anomaly in the amount in the blood of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells MP:0008623 increased circulating interleukin-3 level increase in the amount in the blood of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells MP:0008624 decreased circulating interleukin-3 level reduction in the amount in the blood of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells MP:0008625 abnormal circulating interleukin-5 level anomaly in the amount in the blood of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells MP:0008626 increased circulating interleukin-5 level increase in the amount in the blood of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells MP:0008627 decreased circulating interleukin-5 level reduction in the amount in the blood of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells MP:0008628 abnormal circulating interleukin-9 level anomaly in the amount in the blood of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells MP:0008629 increased circulating interleukin-9 level increase in the amount in the blood of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells MP:0008630 decreased circulating interleukin-9 level reduction in the amount in the blood of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells MP:0008631 abnormal circulating interleukin-16 level anomaly in the amount in the blood of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes MP:0008632 increased circulating interleukin-16 level increase in the amount in the blood of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes MP:0008633 decreased circulating interleukin-16 level reduction in the amount in the blood of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes MP:0008634 abnormal circulating interleukin-18 level anomaly in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity MP:0008635 increased circulating interleukin-18 level increase in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity MP:0008636 decreased circulating interleukin-18 level reduction in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity MP:0008637 abnormal circulating interleukin-1 alpha level anomaly in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active MP:0008638 increased circulating interleukin-1 alpha level increase in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active MP:0008639 decreased circulating interleukin-1 alpha level reduction in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active MP:0008640 abnormal circulating interleukin-1 beta level anomaly in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane MP:0008641 increased circulating interleukin-1 beta level increased in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane MP:0008642 decreased circulating interleukin-1 beta level reduction in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane MP:0008643 abnormal circulating interleukin-12a level anomaly in the amount in the blood of the p35 subunit of interleukin-12 MP:0008644 increased circulating interleukin-12a level increase in the amount in the blood of the p35 subunit of interleukin-12 MP:0008645 decreased circulating interleukin-12a level reduction in the amount in the blood of the p35 subunit of interleukin-12 MP:0008646 abnormal circulating interleukin-12b level anomaly in the amount in the blood of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 MP:0008647 increased circulating interleukin-12b level increase in the amount in the blood of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 MP:0008648 decreased circulating interleukin-12b level reduction in the amount in the blood of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 MP:0008649 abnormal circulating interleukin-23a level anomaly in the amount in the blood of the p19 subunit of interleukin-23 MP:0008650 abnormal interleukin-1 secretion anomaly in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens MP:0008651 increased interleukin-1 secretion increase in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens MP:0008652 decreased interleukin-1 secretion reduction in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens MP:0008653 abnormal interleukin-1 alpha secretion anomaly in the production or release of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active MP:0008654 increased interleukin-1 alpha secretion increase in the production or release of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active MP:0008655 decreased interleukin-1 alpha secretion reduction in the production or release of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active MP:0008656 abnormal interleukin-1 beta secretion anomaly in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane MP:0008657 increased interleukin-1 beta secretion increase in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane MP:0008658 decreased interleukin-1 beta secretion reduction in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane MP:0008659 abnormal interleukin-10 secretion anomaly in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation MP:0008660 increased interleukin-10 secretion increase in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation MP:0008661 decreased interleukin-10 secretion reduction in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation MP:0008662 abnormal interleukin-12 secretion anomaly in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells MP:0008663 increased interleukin-12 secretion increase in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells MP:0008664 decreased interleukin-12 secretion reduction in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells MP:0008665 abnormal interleukin-12a secretion anomaly in the production or release of the p35 subunit of interleukin-12 MP:0008666 increased interleukin-12a secretion increase in the production or release of the p35 subunit of interleukin-12 MP:0008667 decreased interleukin-12a secretion reduction in the production or release of the p35 subunit of interleukin-12 MP:0008668 abnormal interleukin-12b secretion anomaly in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 MP:0008669 increased interleukin-12b secretion increase in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 MP:0008670 decreased interleukin-12b secretion reduction in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 MP:0008671 abnormal interleukin-13 secretion anomaly in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses MP:0008672 increased interleukin-13 secretion increase in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses MP:0008673 decreased interleukin-13 secretion reduction in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses MP:0008674 abnormal interleukin-15 secretion anomaly in the production or release of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 MP:0008675 increased interleukin-15 secretion increase in the production or release of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 MP:0008676 decreased interleukin-15 secretion reduction in the production or release of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 MP:0008677 abnormal interleukin-16 secretion anomaly in the production or release of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes MP:0008678 increased interleukin-16 secretion increase in the production or release of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes MP:0008679 decreased interleukin-16 secretion reduction in the production or release of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes MP:0008680 abnormal interleukin-17 secretion anomaly in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors MP:0008681 increased interleukin-17 secretion increase in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors MP:0008682 decreased interleukin-17 secretion reduction in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors MP:0008683 abnormal interleukin-18 secretion anomaly in the production or release of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity MP:0008684 increased interleukin-18 secretion increase in the production or release of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity MP:0008685 decreased interleukin-18 secretion reduction in the production or release of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity MP:0008686 abnormal interleukin-2 secretion anomaly in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes MP:0008687 increased interleukin-2 secretion increase in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes MP:0008688 decreased interleukin-2 secretion reduction in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes MP:0008689 abnormal interleukin-23 secretion anomaly in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells MP:0008690 increased interleukin-23 secretion increase in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells MP:0008691 decreased interleukin-23 secretion reduction in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells MP:0008692 abnormal interleukin-23a secretion anomaly in the production or release of the p19 subunit of interleukin-23 MP:0008693 increased interleukin-23a secretion increase in the production or release of the p19 subunit of interleukin-23 MP:0008694 decreased interleukin-23a secretion reduction in the production or release of the p19 subunit of interleukin-23 MP:0008695 abnormal interleukin-3 secretion anomaly in the production or release of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells MP:0008696 increased interleukin-3 secretion increase in the production or release of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells MP:0008697 decreased interleukin-3 secretion reduction in the production or release of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells MP:0008698 abnormal interleukin-4 secretion anomaly in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells MP:0008699 increased interleukin-4 secretion increase in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells MP:0008700 decreased interleukin-4 secretion reduction in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells MP:0008701 abnormal interleukin-5 secretion anomaly in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells MP:0008702 increased interleukin-5 secretion increase in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells MP:0008703 decreased interleukin-5 secretion reduction in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells MP:0008704 abnormal interleukin-6 secretion anomaly in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts MP:0008705 increased interleukin-6 secretion increase in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts MP:0008706 decreased interleukin-6 secretion reduction in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts MP:0008707 abnormal interleukin-7 secretion anomaly in the production or release of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation MP:0008708 increased interleukin-7 secretion increase in the production or release of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation MP:0008709 decreased interleukin-7 secretion reduction in the production or release of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation MP:0008710 abnormal interleukin-9 secretion anomaly in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells MP:0008711 increased interleukin-9 secretion increase in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells MP:0008712 decreased interleukin-9 secretion reduction in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells MP:0008713 abnormal cytokine level deviation from the normal levels of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells MP:0008714 increased lung carcinoma incidence greater than the expected number of a malignant neoplasm of the lung, arising from epithelial cells, usually glandular or squamous, occurring in a specific population in a given time period MP:0008715 increased lung small cell carcinoma incidence greater than the expected number of an anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm, occurring in a specific population in a given time period MP:0008716 increased lung non-small cell carcinoma incidence greater than the expected number of a heterogeneous aggregate of at least three distinct histological types of lung cancer, occurring in a specific population in a given time period MP:0008717 increased lung squamous cell carcinoma incidence greater than the expected number of a lung carcinoma derived from stratified squamous epithelium, occurring in a specific population in a given time period MP:0008718 increased lung large cell carcinoma incidence greater than the expected number of a bronchogenic tumor of undifferentiated (anaplastic) cells of large size, occurring in a specific population in a given time period MP:0008719 impaired neutrophil recruitment reduced diffusion or accumulation of neutrophils in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions MP:0008720 impaired neutrophil chemotaxis defect in the movement of neutrophils guided by a specific chemical concentration gradient MP:0008721 abnormal chemokine level deviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes MP:0008722 abnormal chemokine secretion anomaly in the production or cellular release of any of the class of pro-inflammatory cytokines that attract and activate leukocytes MP:0008723 impaired eosinophil recruitment reduced diffusion or accumulation of eosinophils in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions MP:0008724 impaired eosinophil chemotaxis defect in the movement of eosinophils guided by a specific chemical concentration gradient MP:0008725 increased heart atrium size increased average size of either one or both of the heart atria compared to the average for a particular population MP:0008726 increased heart left atrium size increased size of the left upper chamber of the heart MP:0008727 increased heart right atrium size increased size of the right upper chamber of the heart MP:0008728 increased memory B cell number greater number of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin MP:0008729 decreased memory B cell number reduced number of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin MP:0008730 fused phalanges anomaly of the long bones of the digits resulting in some or all the bones being joined together MP:0008731 abnormal hair shaft melanin granule morphology any structural anomaly of pigment polymers in the hair shaft MP:0008732 reduced hair shaft melanin granule number the number of pigment polymers in the hair shaft is less than normal MP:0008733 abnormal hair shaft melanin granule distribution disruption in the regular arrangement of pigment polymers in the hair shaft MP:0008734 decreased susceptibility to endotoxin shock less than the expected early reaction of the microcirculation to endotoxins such as LPS, characterized by movement of fluid and leukocytes from the blood into extravascular tissues and often resulting in death MP:0008735 increased susceptibility to endotoxin shock more than the expected early reaction of the microcirculation to endotoxins such as LPS, characterized by movement of fluid and leukocytes from the blood into extravascular tissues and often resulting in death MP:0008736 micromelia disproportionately short or small limbs MP:0008737 abnormal spleen physiology any functional anomaly of the organ that filters blood and stores red corpuscles and platelets MP:0008738 abnormal liver iron level anomaly in the amount of iron present in the liver tissue MP:0008739 abnormal spleen iron level anomaly in the amount of iron present in the spleen tissue MP:0008740 abnormal intestinal iron level anomaly in the amount of iron present in the large or small intestinal tissue MP:0008741 abnormal heart iron level anomaly in the amount of iron present in the heart tissue MP:0008742 abnormal kidney iron level anomaly in the amount of iron present in the kidney tissue MP:0008743 decreased liver iron level reduction in the amount of iron present in the liver tissue MP:0008744 abnormal B cell anergy any anomaly in the process contributing to anergy in B cells, a state of functional inactivation which is part of B cell tolerance induction MP:0008745 abnormal central B cell anergy any anomaly of the processes of B cell anergy that occur in the bone marrow MP:0008746 abnormal peripheral B cell anergy any anomaly of the processes of B cell anergy that occur outside the bone marrow MP:0008747 abnormal T cell anergy any anomaly in the process contributing to anergy in T cells, a state of functional inactivation which is part of T cell tolerance induction MP:0008748 abnormal central T cell anergy any anomaly of the processes of T cell anergy that occur in the thymus MP:0008749 abnormal peripheral T cell anergy any anomaly of the processes of T cell anergy that occur outside the thymus MP:0008750 abnormal interferon level deviation from the normal levels of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions MP:0008751 abnormal interleukin level deviation from the normal levels of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types; they enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli MP:0008752 abnormal tumor necrosis factor level deviation from the normal levels of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium MP:0008753 abnormal osteocyte morphology any structural anomaly of a mature osteoblast that has become embedded in the bone matrix (osteoid) in a small cavity called lacuna and that extends cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi MP:0008754 abnormal T cell receptor V(D)J recombination any anomaly in the process by which T cell receptor V, D, and J, or V and J gene segments, depending on the specific locus, are recombined within a single locus MP:0008755 abnormal immunoglobulin V(D)J recombination any anomaly in the process by which immunoglobulin V, D, and J or V and J gene segments, depending on the specific locus, are recombined within a single locus MP:0008756 abnormal T cell receptor alpha chain V-J recombination any anomaly in the process by which V and J gene segments of the T cell receptor alpha chain are recombined MP:0008757 abnormal T cell receptor gamma chain V-J recombination any anomaly in the process by which V and J gene segments of the T cell receptor gamma chain are recombined MP:0008758 abnormal T cell receptor beta chain V(D)J recombination any anomaly in the process by which V, D, and J segments of the T cell receptor beta chain are recombined MP:0008759 abnormal T cell receptor delta chain V(D)J recombination any anomaly in the process by which V, D, and J segments of the T cell receptor delta chain are recombined MP:0008760 abnormal immunoglobulin heavy chain V(D)J recombination any anomaly in the process by which V, D, and J gene segments of the immunoglobulin heavy chain are recombined MP:0008761 abnormal immunoglobulin light chain V-J recombination any anomaly in the process by which V and J gene segments of the immunoglobulin light chain are recombined MP:0008762 embryonic lethality death of an animal within the embryonic period prior to organogenesis (Mus: prior to E14) MP:0008763 abnormal mast cell degranulation abnormalities in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell MP:0008764 increased mast cell degranulation increase in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell MP:0008765 decreased mast cell degranulation reduction in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell MP:0008766 abnormal B cell receptor editing any anomaly in the process of replacing receptors on B cells, in which RAG gene expression allows continued light-chain gene rearrangement and expression of a new light change which combines with the previous heavy chain to form a new receptor MP:0008767 abnormal hair medullary septa cells septa-forming cells of hair medulla are abnormal in size or arrangement MP:0008768 abnormal hair medulla air spaces air spaces between septa-forming cells of hair medulla are larger or smaller than normal MP:0008769 abnormal plasmacytoid dendritic cell physiology any functional anomaly of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli; plasmacytoid dendritic cells are found in the thymic medulla and lymph node T cell areas and are responsible for immune tolerance MP:0008770 decreased survivor rate a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls MP:0008771 elongated vertebral column increased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord MP:0008772 increased heart ventricle size increased average size of one or both heart ventricles compared to the average for a particular population MP:0008775 abnormal heart ventricle pressure any anomaly in the pressure within a cardiac ventricle MP:0008776 increased right ventricle peak pressure increase in the difference between right ventricular systolic and diastolic pressures MP:0008777 increased right ventricle diastolic pressure increase in the pressure of the right ventricle between heart beats when the heart is relaxed MP:0008778 abnormal lymphangiogenesis any anomaly in the formation of lymphatic vessels from pre-existing lymphatic vessels MP:0008779 abnormal maternal behavior any anomaly in any response from the mother or attending female related to the ability of young to thrive MP:0008780 increased pancreatic acinar cell carcinoma incidence greater than the expected number of an adenocarcinoma arising from cells of the pancreas that secrete digestive enzymes, occurring in a specific population in a given time period MP:0008781 abnormal B cell apoptosis change in the timing or the number of B cells undergoing programmed cell death MP:0008782 increased B cell apoptosis increase in the timing or the number of B cells undergoing programmed cell death MP:0008783 decreased B cell apoptosis reduction in the timing or the number of B cells undergoing programmed cell death MP:0008784 craniorachischisis the most severe form of neural tube defect leaving the neural tube open from the midbrain or rostral hindbrain to the base of the spine; in mammals, craniorachischisis arises as a failure of a de novo closure event occurring during primary neurulation at the boundary of the future hindbrain and cervical spine (day 22 postfertilization in humans and E8.5 in mice); craniorachischisis totalis, the most complete form of craniorachischisis, presents anencephaly and total spina bifida together and is lethal MP:0008785 abnormal sternum manubrium morphology any structural anomaly of the broad, handle-like part of the sternum which articulates with the clavicles and the first two pairs of ribs MP:0008786 abnormal hindgut morphology any structural anomaly of the caudal portion of the primitive digestive tube of the embryo MP:0008787 abnormal tailgut morphology any structural anomaly of the extension of the hindgut of the primitive digestive tube of the embryo, caudal to the location of the anal opening MP:0008788 abnormal fetal cardiomyocyte morphology any structural anomaly of fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes MP:0008789 abnormal olfactory epithelium morphology any structural anomaly of the epithelial cells that line the interior of the nose MP:0008790 abnormal NK cell degranulation anomaly in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells MP:0008791 decreased NK cell degranulation reduction in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells MP:0008792 increased NK cell degranulation increase in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells MP:0008793 abnormal lens epithelium apoptosis anomaly in the number of lens epithelial cells undergoing programmed cell death MP:0008794 increased lens epithelium apoptosis increase in the number of lens epithelial cells undergoing programmed cell death MP:0008795 abnormal lens fiber apoptosis anomaly in the number of lens fibers cells undergoing programmed cell death MP:0008796 increased lens fiber apoptosis increase in the number of lens fibers cells undergoing programmed cell death MP:0008797 facial cleft a cleft resulting from incomplete merging or fusion of any of the embryonic facial processes that normally unite to form the face MP:0008798 lateral facial cleft presence of a primitive oral fissure (macrostomia) that extends into the anlage region of the ears, between the 1st and 2nd pharyngeal arches MP:0008799 oblique facial cleft presence of a facial fissure that runs from the lower lid edge to the lower edge of the nasal opening that results from a deficient fusion of the epithelium of the lacrimonasal duct MP:0008800 increased small intestinal crypt cell apoptosis increase in the number of small intestinal crypt cells undergoing programmed cell death MP:0008801 abnormal erythroid progenitor cell morphology any structural anomaly of a progenitor cell committed to the erythroid lineage MP:0008802 abnormal intestinal smooth muscle morphology any structural anomaly of the nonstriated, involuntary muscle tissue lining the intestine MP:0008803 abnormal placental labyrinth vasculature morphology any structural anomaly of blood vessels of the layer of the placenta where embryonic and maternal blood exchange nutrients and waste products MP:0008804 abnormal circulating amylase level any anomaly in the concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood MP:0008805 decreased circulating amylase level reduction in the concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood MP:0008806 increased circulating amylase level greater concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood MP:0008807 increased liver iron level increase in the amount of iron present in the liver tissue MP:0008808 decreased spleen iron level reduction in the amount of iron present in the spleen tissue MP:0008809 increased spleen iron level increase in the amount of iron present in the spleen tissue MP:0008810 increased circulating iron level elevation in the concentration of iron in the blood MP:0008811 abnormal brain iron level any anomaly in the amount of iron present in the brain tissue MP:0008812 abnormal rostrocaudal coat patterning irregular or unusual pigmentation pattern of the rostral-to-caudal axis compared to control animals MP:0008813 decreased common myeloid progenitor cell number reduced number of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages MP:0008814 decreased nerve conduction velocity decrease in the rate at which an electrical impulse travels through a nerve MP:0008815 anterior staphyloma any structural anomaly resulting in bulging near the anterior pole of the eyeball MP:0008816 petechiae very small blood spots or splotches that appear especially in skin as a result of localized hemorrhage MP:0008817 hematoma an abnormal localized accumulation of clotted or partially clotted blood in an organ or a soft tissue space as a result of localized hemorrhage MP:0008818 abnormal interfrontal bone morphology any structural anomaly or presence of a bone between the frontal bones in the skull; an extra bony plate within the anterior fontanelle that is not usually present MP:0008819 abnormal mastication any anomaly in the process of biting and mashing food with the teeth prior to swallowing MP:0008820 abnormal blood uric acid level aberrant concentration in the blood of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine MP:0008821 increased blood uric acid level greater concentration in the blood of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine MP:0008822 decreased blood uric acid level reduced concentration in the blood of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine MP:0008823 abnormal interventricular septum membranous part morphology any structural anomaly of the membranous portion of the wall between the two lower chambers of the heart MP:0008824 absent interventricular septum membranous part absence of the membranous portion of the wall between the two lower chambers of the heart MP:0008825 abnormal cardiac epithelial to mesenchymal transition anomaly in the process by which endocardial cells of the atrioventricular canal or the outflow tract lose their epithelial characteristics, delaminate from the endocardial sheet, become migratory and invade the cardiac jelly, and develop mesenchymal characteristics eventually forming both the endocardial cushions required for septum and atrioventricular valve formation and the cushions of the outflow tract that form the conotruncal septum MP:0008826 abnormal splenic cell ratio deviation from the standard ratios of splenocyte subpopulations compared to control samples MP:0008827 abnormal thymus cell ratio deviation from the standard ratios of thymocyte subpopulations compared to control samples MP:0008828 abnormal lymph node cell ratio deviation from the standard ratios of lymph node cell subpopulations compared to control samples MP:0008829 triphalangia anomaly in which three phalanges are present in the thumb or great toe MP:0008830 abnormal nucleolus morphology any structural anomaly of the small rounded nuclear substructure that produces ribonucleoprotein MP:0008831 abnormal insulin-like growth factor I level anomaly in the concentration of a polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities MP:0008832 hemivertebra a congenital malformation of the spine in which only half of a vertebral body develops MP:0008833 caudal hemivertebra a congenital malformation of the caudal vertebrae in which only half of the vertebral body develops MP:0008834 abnormal melanosome transport any anomaly in the directed movement of melanosomes into, out of, within or between cells MP:0008835 abnormal intercellular signaling peptide or protein level abnormal concentration of any regulatory protein or peptide that is a signaling molecule involved in the process of paracrine communication MP:0008836 abnormal transforming growth factor beta level abnormal concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function MP:0008837 increased transforming growth factor beta level greater concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function MP:0008838 decreased transforming growth factor beta level reduced concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function MP:0008839 absent acrosome mature spermatozoa lack the cap-like structure at the anterior end of the sperm head that produces enzymes needed for egg penetration MP:0008840 abnormal spike wave discharge anomaly in the characteristic epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy MP:0008841 ruptured lens capsule a break or tear in the elastic, clear, membrane-like structure, that is outer most layer of the lens MP:0008842 lipofuscinosis accumulation of intracellular autofluorescent material, in the form of brownish fatty pigment, in lysosomes as a normal part of senescence or aging MP:0008843 absent subcutaneous adipose tissue absence of adipose tissue beneath the skin MP:0008844 decreased subcutaneous adipose tissue amount reduction in amount of adipose tissue beneath the skin MP:0008845 abnormal paraventricular hypothalamic nucleus morphology any structural anomaly of a group of magnocellular neurons located in the periventricular zone of the anterior half of the hypothalamus MP:0008846 abnormal supraoptic nucleus morphology any structural anomaly of a group of cells in the hypothalamus located over the lateral border of the optic tract; neurons produce and transport vasopressin MP:0008847 abnormal suprachiasmatic nucleus morphology any structural anomaly of an ovoid densely packed collection of small cells of the anterior hypothalamus lying close to the midline in a shallow impression of the optic chiasm; it receives input from the retina and influences neuroendocrine function MP:0008848 abnormal anterior hypothalamic nucleus morphology any structural anomaly of a loose heterogeneous collection of cells in the anterior hypothalamus, continuous rostrally with the medial and lateral preoptic areas and caudally with the tuber cinereum MP:0008849 abnormal hemoglobin concentration distribution width anomaly in the standard deviation of the distribution of erythrocytes by their cellular (individual) hemoglobin concentrations MP:0008850 increased hemoglobin concentration distribution width higher than normal standard deviation of the distribution of erythrocytes by their cellular (individual) hemoglobin concentrations; high HDW is indicative of some types of anemia/thalassemia MP:0008851 decreased hemoglobin concentration distribution width lower than normal standard deviation of the distribution of erythrocytes by their cellular (individual) hemoglobin concentrations MP:0008852 retina neovascularization formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina MP:0008853 decreased abdominal adipose tissue amount reduction in amount of adipose tissue associated with internal organs MP:0008854 bleb presence of a blister-like, nearly hemispherical structure filled with air, serous fluid or blood MP:0008855 eye bleb presence of blister-like structures formed in the eye during embryonic development that are usually filled with blood MP:0008856 fetal bleb presence of subepidermal blister-like structures on the skin, often on the head, formed during embryonic development and usually filled with blood MP:0008857 myelencephalic blebs presence of blister-like structures formed on the posterior portion of the embryonic hindbrain that are usually filled with blood MP:0008858 abnormal hair cycle anagen phase anomaly in the growth phase of the hair cycle MP:0008859 abnormal hair cycle catagen phase anomaly in the phase of the hair growth cycle during which cell proliferation ceases, the hair follicle shortens, and an anchored hair is produced MP:0008860 abnormal hair cycle telogen phase anomaly in the resting or quiescent phase of the hair growth cycle which follows cessation of proliferation (catagen) and precedes hair loss MP:0008861 abnormal hair shedding anomaly in the hair cycle changes the timing of the hair loss that normally follows the anagen phase MP:0008862 asymmetric snout presence of a snout that lacks mirrored identity on either side of the median plane MP:0008863 craniofacial asymmetry head or facial features that lack mirrored identity on either side of the median plane MP:0008864 abnormal intestinal secretion any anomaly in the quantity or rate of any substance transported from intestinal cells into the lumen of the intestine MP:0008866 chromosomal instability abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity MP:0008867 uniparental disomy abnormal assortment of chromosomes from parent to offspring whereby the chromosome number is correct, but both members of a chromosome pair or segments of a chromosome pair are inherited from the same parent MP:0008868 abnormal granulosa cell morphology any structural anomaly of a supporting cell for the developing female gamete in the ovary of mammals; granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle MP:0008869 anovulation complete failure of ovum to be released from an ovarian follicle MP:0008870 increased mature ovarian follicle number than normal numbers of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle MP:0008871 abnormal ovarian follicle number abnormal numbers of spheroid cell aggregations in the ovary MP:0008872 abnormal physiological response to xenobiotic any anomaly in the physiological or morphological changes induced by a compound foreign to living organisms such as changes in blood pressure, changes in hormone or protein levels or hypertrophy or hypotrophy of an organ MP:0008873 increased physiological sensitivity to xenobiotic decrease in the dose or concentration of a compound foreign to living organisms required to induce a specific level of physiological response or increase in the severity of physiological response to a given dose or concentration of a compound foreign to living organisms MP:0008874 decreased physiological sensitivity to xenobiotic increase in the dose or concentration of a compound foreign to living organisms required to induce a specific level of physiological response or decrease in the severity of physiological response to a given dose or concentration of a compound foreign to living organisms MP:0008875 abnormal xenobiotic pharmacokinetics any anomaly in the absorption, distribution, metabolism or elimination of a compound foreign to living organisms MP:0008876 decreased uterine NK cell number reduced cell number of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy MP:0008877 abnormal DNA methylation any anomaly in the covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine of DNA MP:0008878 abnormal DNA methylation during gametogenesis any anomaly of the covalent transfer of a methyl group to C-5 of cytosine during gamete generation, when DNA methylation patterns are established MP:0008879 submandibular gland inflammation local accumulation of fluid, plasma proteins, and leukocytes in either of the large major salivary glands situated beneath the mandible MP:0008880 lacrimal gland inflammation local accumulation of fluid, plasma proteins, and leukocytes in the glands that secrete tears MP:0008881 absent Harderian gland absence of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane MP:0008882 abnormal enterocyte physiology any functional anomaly of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen MP:0008883 abnormal enterocyte proliferation anomaly in the ability of the enterocyte cell population to undergo expansion by cell division MP:0008884 abnormal enterocyte apoptosis change in the timing or the number of enterocytes undergoing programmed cell death MP:0008885 increased enterocyte apoptosis increase in the timing or the number of enterocytes undergoing programmed cell death MP:0008886 abnormal PML bodies alteration in structure, number or location of the subnuclear structures associated with functions including transcription, DNA repair, viral defense, stress, cell cycle regulation, proteolysis and apoptosis MP:0008887 abnormal splicing factor domain morphology alteration in structure, number or location of subnuclear structures comprising storage locations for elements responsible for excising non-coding regions from a primary messenger RNA transcript and joining coding regions to produce mature messenger RNA MP:0008888 abnormal Cajal body morphology alteration in structure, number or location of subnuclear structures involved in snRNP biogenesis and in the trafficking of snoRNPs and snRNPs MP:0008889 abnormal Gem morphology alteration in structure, number or location of subnuclear structures involved in snRNP biogenesis and in the trafficking of snoRNPs and snRNPs and found paired with or juxtaposed to Cajal bodies MP:0008890 abnormal nuclear lamina morphology any structural anomaly of the inner nuclear membrane surrounding the nuclear periphery, comprising a scaffold-like network of protein filaments responsible for trafficking of mRNA to the cytoplasm MP:0008891 decreased hepatocyte apoptosis reduction in the number of hepatocytes undergoing programmed cell death MP:0008892 abnormal sperm flagellum morphology any structural anomaly of the whiplike posterior filiform portion of the spermatozoon composed of a number of cytoskeletal elements whose proper assembly is critical for sperm motility; the mammalian flagellum is structurally divided into four major parts: the connecting piece, the midpiece, the principal piece, and the end piece MP:0008893 detached sperm flagellum fragmentation of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility from the sperm head MP:0008894 abnormal intraepithelial T cell morphology any structural anomaly of a T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements MP:0008895 abnormal intraepithelial T cell number reduced number of T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements MP:0008896 increased IgG2c level greater than normal immunoglobulin class G2c level MP:0008897 decreased IgG2c level less than normal immunoglobulin class G2c level MP:0008898 abnormal acrosome morphology any structural anomaly of the cap-like structure at the anterior end of the sperm head that produces enzymes needed for egg penetration MP:0008899 plush coat coat has a thick, velvet-like appearance MP:0008900 abnormal uterine fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the uterus MP:0008901 absent epididymal fat pad absence of the encapsulated adipose tissue associated with the epididymis MP:0008902 abnormal renal fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the kidney MP:0008903 abnormal mesenteric fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the mesentery MP:0008904 abnormal mammary fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the mammary gland MP:0008905 abnormal femoral fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the femur MP:0008906 abnormal parametrial fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament MP:0008907 decreased total fat pad weight less than average weight of the fat pads MP:0008908 increased total fat pad weight greater than average weight of the fat pads MP:0008909 supination rotation of the pedal or prehensile extremity so the forefoot (hand) faces anteriorly to the anatomic position; rotation of the hindfoot (foot) such that the plantar surface turns upward MP:0008910 thin long bone epiphysis thinner than normal rounded end of a long bone MP:0008911 induced hyperactivity increased physical activity following stimulation such as handling, touching or noise MP:0008912 nervous increased, skittish, behavior induced by stimulation such as handling, touching or noise MP:0008913 weaving momentary, slow motions of the whole body from side to side sometimes followed by a sudden drop from an erect position MP:0008914 enlarged cerebellum increased size of the cerebellum MP:0008915 fused carpal bones anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands resulting in some or all the bones being joined together MP:0008916 abnormal astrocyte physiology any functional anomaly of one of the large neuroglia cells of nervous tissue MP:0008917 abnormal oligodendrocyte physiology any functional anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS MP:0008918 microgliosis a proliferation or spread of microglia in the area of a degenerative lesion or damaged tissue MP:0008919 fused tarsal bones anomaly of the eight bones of the instep of the paw/foot resulting in some or all the bones being joined together MP:0008920 absent cervical axis absence of the second cervical vertebra (C2) which forms the pivot upon which the first cervical (atlas, C1) vertebra rotates MP:0008921 increased neurotransmitter release increased production or release of endogenous signaling molecules normally secreted by neurons that alter the behavior of neurons or effector cells MP:0008922 abnormal cervical rib alternate location or appearance of a rare supernumerary rib commonly articulating with the seventh cervical vertebrae (above the normal first rib) but not reaching the sternum anteriorly MP:0008923 thoracoschisis congenital fissure of the chest wall MP:0008924 decreased cerebellar granule cell number reduction in the number of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites MP:0008925 increased cerebellar granule cell number greater number of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites MP:0008926 abnormal anterior definitive endoderm morphology any structural anomaly of the mesendoderm which first migrates from the node and evolves into the foregut, from which pancreas, liver and lungs will eventually emerge MP:0008927 abnormal parafascicular nucleus morphology any structural anomaly in the thalmic nucleus that send excitatory projections onto striatal medium spiny neurons and cholinergic interneurons MP:0008928 abnormal paracentral nucleus morphology any structural anomaly of one of the intralaminar nuclei of the thalamus, located medial to the central lateral nucleus MP:0008929 abnormal central medial nucleus morphology any structural anomaly of a small cell group in the interthalamic adhesion of the thalamus that occupy the midline region of the internal medullary lamina, between the left and right paracentral nuclei MP:0008930 abnormal medial geniculate nucleus morphology any structural anomaly of groups of nerve cells that function as a relay of auditory input to auditory cortex, receiving the brachium of the inferior colliculus and sending processed information to the auditory cortex in the superior temporal gyrus MP:0008931 abnormal paraventricular thalamic nucleus morphology any structural anomaly in the nucleus in the thalamus that consists primarily of excitatory neurons, extends over the entire rostro-caudal length of the midline thalamus, and regulates arousal, emotional, and motivated behaviors MP:0008932 abnormal embryonic tissue physiology any functional anomaly in any of the tissues of the embryo proper MP:0008933 abnormal motile primary cilium physiology any functional anomaly of the cilia of the mouse embryo found on the cells of the embryonic node, which generate flow of extraembryonic fluid surrounding the node in a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization MP:0008934 absent choroid plexus absence of the infoldings of blood vessels of the pia mater covered by a thin coat of ependymal cells that form tufted projections into the third, fourth, and lateral ventricles of the brain MP:0008935 decreased mean platelet volume reduced average content of platelet cells over normal MP:0008936 abnormal pituitary gland size anomaly in the average size of the compound gland suspended from the base of the hypothalamus MP:0008937 abnormal pituitary gland weight anomaly in the average weight of the compound gland suspended from the base of the hypothalamus MP:0008938 decreased pituitary gland weight reduction in the average weight of the compound gland suspended from the base of the hypothalamus MP:0008939 increased pituitary gland weight greater than average weight of the compound gland suspended from the base of the hypothalamus MP:0008940 delayed balanopreputial separation the separation of the prepuce from the glans penis (balanus), a result of the cornification of the balano-preputial epithelium, occurs at a later than expected age MP:0008941 reticulocytopenia decrease in the normal number of circulating reticulocytes MP:0008942 abnormal induced cell death anomaly in the response to an agent that induces cessation of function at the cellular level MP:0008943 increased sensitivity to induced cell death decrease in the exposure level to an agent that is required to induce cessation of function at the cellular level MP:0008944 decreased sensitivity to induced cell death increase in the exposure level to an agent that is required to induce cessation of function at the cellular level MP:0008945 hyperchromic macrocytic anemia deficiency of red blood cells in which the remaining circulating erythrocyte corpuscular volume is larger than normal and the total amount of hemoglobin per cell is increased, but the percentage of hemoglobin per cell is usually in the normochromic range MP:0008946 abnormal neuron number anomaly in the number of the cells of the nervous system that receive, conduct, and transmit impulses MP:0008947 increased neuron number greater than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses MP:0008948 decreased neuron number fewer than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses MP:0008949 increased Cajal-Retzius cell number greater number of the distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus MP:0008950 ventricular tachycardia paroxysmal rapid beating of the heart originating in an ectopic focus in the heart ventricle MP:0008951 long radius increased length of the short bone of the lateral forearm MP:0008952 abnormal pancreatic delta cell physiology any functional anomaly of the cells found in the pancreas that secrete somatostatin MP:0008953 abnormal pancreatic somatostatin secretion anomaly in the production or release from pancreatic delta cells of a 14 amino acid peptide that inhibits growth hormone release and is found in the central and peripheral nervous systems, the gut, and other organs MP:0008954 abnormal cellular hemoglobin content anomaly in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume MP:0008955 increased cellular hemoglobin content increase in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume MP:0008956 decreased cellular hemoglobin content decrease in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume MP:0008957 abnormal placenta junctional zone morphology any structural anomaly of the fetally derived placental region that separates the maternal uterine tissue from the placenta labyrinth MP:0008958 abnormal trophoblast glycogen cell morphology any structural anomaly of a glycogen-accumulating trophoblast cell that arises in the junctional zone of the placenta MP:0008959 abnormal spongiotrophoblast cell morphology any structural anomaly of a trophoblast cell that arises in the junctional zone of the placenta MP:0008960 abnormal axon pruning defects in the developmental elimination of axons that fail to participate in an active neuronal circuit by retraction, degeneration, shedding or other mechanism MP:0008961 abnormal basal metabolism any anomaly in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state MP:0008962 abnormal carbon dioxide production deviation from the normal rate at which carbon dioxide leaves the blood and enters the alveolar gas MP:0008963 increased carbon dioxide production increase in the rate at which carbon dioxide leaves the blood and enters the alveolar gas MP:0008964 decreased carbon dioxide production reduction in the rate at which carbon dioxide leaves the blood and enters the alveolar gas MP:0008965 increased basal metabolism increase in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state MP:0008966 abnormal chiasmata formation atypical contact between nonsister chromatids of homologous chromosomes during meiosis I, precluding formation of the expected number of cross-shaped configurations representing recombination events MP:0008967 absent chiasmata formation during meiosis I there are no observable cross-over regions where nonsister chromatids of homologous chromosomes recombine with each other MP:0008968 abnormal lacrimal apparatus morphology any structural anomaly of the network of orbital structures of the eye that secrete and drain tears from the surface of the eyeball into the nasal cavity; these parts include the lacrimal glands, lacrimal lake, lacrimal ducts, lacrimal canals, lacrimal sacs, nasolacrimal ducts, and lacrimal puncta MP:0008969 abnormal nasolacrimal duct morphology any structural anomaly of the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity MP:0008970 choanal atresia blockage of the back of the nasal passage by abnormal bony or soft tissue, usually due to failure of the bucconasal membrane to involute during development MP:0008971 abnormal ethmoturbinate morphology any structural anomaly of the conchae of the ethmoid bone which occupy the caudal part of the nasal fossae and form the lateral and superior portions of the turbinate bones in mammals MP:0008972 ethmoturbinate hypoplasia decrease in the number of normal cells in normal arrangement in the ethmoturbinate, typically resulting in decreased size MP:0008973 decreased erythroid progenitor cell number reduced numbers of progenitors of the erythrocyte lineage MP:0008974 proportional dwarf abnormally undersized with both limbs and trunk symmetrically shorter; usually due to chemical, endocrine, nutritional or nonosseous influences MP:0008975 delayed male fertility ability of a male organism to produce live offspring occurring at a later than expected age MP:0008976 delayed female fertility ability of a female organism to produce live offspring occurring at a later than expected age MP:0008977 abnormal vagina size anomaly in the size of the female reproductive canal located between the uterus and the vulva MP:0008978 abnormal vagina weight anomaly in the weight of the female reproductive canal located between the uterus and the vulva MP:0008979 increased vagina weight increase in the weight of the female reproductive canal located between the uterus and the vulva MP:0008980 decreased vagina weight decrease in the weight of the female reproductive canal located between the uterus and the vulva MP:0008981 enlarged vagina increase in the size of the female reproductive canal located between the uterus and the vulva MP:0008982 vagina hyperplasia increase in the number of normal cells in normal arrangement in the vagina, typically resulting in increased size MP:0008983 small vagina decrease in the size of the female reproductive canal located between the uterus and the vulva MP:0008984 vagina hypoplasia decrease in the number of normal cells in normal arrangement in the vagina, typically resulting in decreased size MP:0008985 hemimelia congenital absence of part of an extremity, such as absent fibula with the tibia present MP:0008986 abnormal liver parenchyma morphology any structural anomaly of the functional units of the liver including the lobules MP:0008987 abnormal liver lobule morphology any structural anomaly of the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein MP:0008988 abnormal liver perisinusoidal space morphology any structural anomaly of the extravascular space in the liver between the parenchymal cells and a sinusoid that contains the blood plasma MP:0008989 abnormal liver sinusoid morphology any structural anomaly of the hepatic distensible vascular blood channels lined with highly fenestrated endothelial cells that function to exchange fluids, nutrients, proteins and wastes MP:0008990 abnormal Ito cell morphology any structural anomaly of the fat-storing cells that line the hepatic sinusoids MP:0008991 abnormal bile canaliculus morphology any structural anomaly of the intercellular channels that take up bile from hepatocytes and transport it to the bile ducts MP:0008992 abnormal portal lobule morphology any structural anomaly of the triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel MP:0008993 abnormal portal triad morphology any structural anomaly of the three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel MP:0008994 early vaginal opening the opening of the genital canal in a female occurs at an earlier than expected age MP:0008995 early reproductive senescence loss of reproductive capacity occurring at an earlier than expected age MP:0008996 abnormal blood osmolality anomaly in the concentration of ions in the blood or blood fractions compared to the normal state, sometimes reported as increased or decreased osmotic fragility MP:0008997 increased blood osmolality increase in the concentration of ions in the blood compared to the normal state MP:0008998 decreased blood osmolality decrease in the concentration of ions in the blood compared to the normal state MP:0008999 absent anus absence of the lower opening of the digestive tract MP:0009000 absent cecum absence of the large sac at the ileum and large intestine junction MP:0009001 absent hallux absence of the first or primary digit of the foot MP:0009002 premature hair regrowth faster initiation of the hair growth cycle (anagen) after catagen phase MP:0009003 abnormal vibrissa number any anomaly in the number of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors MP:0009004 progressive hair loss thinning of hair (coat) over time, usually in a defined pattern, until entirely gone with no recurrent growth MP:0009005 abnormal sesamoid bone of gastrocnemius morphology any structural anomaly of the small sesamoid bones situated behind the condyles of the femur MP:0009006 prolonged estrous cycle increase in the length of the estrous cycle MP:0009007 short estrous cycle decrease in the length of the estrous cycle MP:0009008 delayed estrous cycle onset of the estrous cycle of females occurring at a later than expected age MP:0009009 absent estrous cycle failure of female animals to enter or progress through the estrous cycle MP:0009010 abnormal diestrus any anomaly or aberrant timing of the last phase of the estrous cycle, during which unfertilized eggs are eliminated, the vagina and vulva are at a minimum size, and new follicles begin to undergo a rapid growth for the next ovulation; if pregnancy does not occur, the metestrous phase is ultimately followed by the diestrous phase MP:0009011 prolonged diestrus increase in the length of the diestrous phase of the estrous cycle in female animals MP:0009012 short diestrus decrease in the length of the diestrous phase of the estrous cycle in female animals MP:0009013 abnormal proestrus any anomaly or aberrant timing of the first phase of the estrous cycle which begins when a new batch of eggs reach maturity within ovarian follicles that are ripe and large; external examination of the female usually shows a bloated vulva with an open vagina MP:0009014 prolonged proestrus increase in the length of the proestrous phase of the estrous cycle in female animals MP:0009015 short proestrus decrease in the length of the proestrous phase of the estrous cycle in female animals MP:0009016 abnormal estrus any anomaly or aberrant timing of the phase of the estrous cycle which begins with the ovulation of fully mature oocytes and during which the vulva remains in an extended state with an open vagina, and females are maximally receptive to male advances MP:0009017 prolonged estrus increase in the length of the estrous phase of the estrous cycle in female animals MP:0009018 short estrus decrease in the length of the estrous phase of the estrous cycle in female animals MP:0009019 abnormal metestrus any anomaly or aberrant timing of the phase of the estrous cycle which follows estrus when mature eggs move through the oviducts and into the uterus; the vulva is no longer bloated, and the vagina is now closed MP:0009020 prolonged metestrus increase in the length of the metestrous phase of the estrous cycle in female animals MP:0009021 absent estrus absence or failure of the estrous phase of the estrous cycle in female animals MP:0009022 abnormal brain meninges morphology any structural anomaly in any of the membranes covering the brain, including the dura mater (external), arachnoid (middle), and pia mater (internal) MP:0009023 abnormal spinal cord meninges morphology any structural anomaly in any of the membranes covering the spinal cord, including the dura mater (external), arachnoid (middle), and pia mater (internal) MP:0009024 abnormal brain arachnoid mater morphology any structural anomaly of the fibrous membrane forming the middle of the three coverings that surrounds the brain within the cranial cavity MP:0009025 abnormal brain dura mater morphology any structural anomaly of the fibrous membrane forming the outer of the three coverings that surrounds the brain within the cranial cavity; consists of two layers including the periosteal layer and the meningeal layer MP:0009026 abnormal brain pia mater morphology any structural anomaly of the fibrous membrane forming the innermost of the three coverings that surrounds the brain within the cranial cavity that is firmly attached to the glial capsule MP:0009027 abnormal subarachnoid space morphology any structural anomaly of the space between the arachnoid and pia mater that is traversed by fibrous trabeculae and contains cerebrospinal fluid MP:0009028 abnormal chiasmatic cistern morphology any structural anomaly of the region of the subarachnoid space that is located below and anterior to the optic chiasm MP:0009029 abnormal basal cistern morphology any structural anomaly of the enclosed space where the arachnoid membrane stretches between the two temporal lobes and encloses the cerebral peduncles including the structures contained in the interpeduncular fossa MP:0009030 abnormal pontine cistern morphology any structural anomaly of the space located on lateral aspects of the pons at the junction with the cerebellum MP:0009031 abnormal cerebellomedullary cistern morphology any structural anomaly of the largest of the subarachnoid spaces between the cerebellum and the medulla oblongata MP:0009032 abnormal subarachnoid cistern morphology any structural anomaly of the widening portions of the subarachnoid space within the cranium where the arachnoid bridges over a depression on the surface of the brain MP:0009033 abnormal posterior cerebellomedullary cistern any structural anomaly of the space between the cerebellum and the dorsal surface of the medulla MP:0009034 abnormal lateral cerebellomedullary cistern morphology any structural anomaly of the space between the cerebellum and the lateral aspect of the medulla MP:0009035 abnormal quadrigeminal cistern morphology any structural anomaly of the enclosed space extending forward between the corpus callosum and the thalamus that contains the internal cerebral veins MP:0009036 absent posterior cerebellomedullary cistern absence of the space between the cerebellum and the dorsal surface of the medulla MP:0009037 abnormal subarachnoid space development anomaly in the formation of the space between the arachnoid and pia mater that is traversed by fibrous trabeculae and contains cerebrospinal fluid MP:0009038 decreased inferior colliculus size decreased size of the paired inferior eminence of the mesencephalic tectum MP:0009039 absent inferior colliculus absence of the paired inferior eminence of the mesencephalic tectum MP:0009040 absent superior colliculus absence of the paired superior eminence of the mesencephalic tectum MP:0009041 absent colliculi absence of the inferior and superior colliculus MP:0009042 pilar cyst presence of one or more epithelial cysts of the skin arising from the outer root sheath of the hair follicle MP:0009043 increased pancreas adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the pancreas, occurring in a specific population in a given time period MP:0009044 increased adrenal gland adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the adrenal gland, occurring in a specific population in a given time period MP:0009045 muscle tetany a condition of mineral imbalance in the body that results in severe muscle spasms occurring when the concentration of calcium ions (Ca++) in extracellular fluids such as plasma falls below normal MP:0009046 muscle twitch minor, sometimes imperceptible, local muscle contractions or uncontrollable movement of a single muscle group served by a single motor nerve fiber or filament sometime, but not always, indicating a neurological disorder MP:0009047 short metestrus decrease in the length of the metestrous phase of the estrous cycle in female animals MP:0009048 enlarged tectum increased size of the rostral part of the midbrain roof MP:0009049 abnormal hallux morphology any structural anomaly of the first or primary digit of the foot MP:0009050 dilated proximal convoluted tubule stretched or widened aperture of the luminal space of one or more of the proximal convoluted kidney tubules MP:0009051 dilated distal convoluted tubule stretched or widened aperture of the luminal space of one or more of the distal convoluted kidney tubules MP:0009052 anal stenosis abnormal narrowing or constriction of the anal canal MP:0009053 abnormal anal canal morphology any structural anomaly in the terminal portion of the alimentary canal, which begins at the anorectal junction, where the rectal ampulla abruptly narrows as the alimentary canal pierces the pelvic diaphragm (levator ani), and ends at the anal verge, when the anoderm that lines the lower anal canal changes to hairy perianal skin; surrounded by the internal and external anal sphincters MP:0009054 absent anal canal absence of the terminal portion of the alimentary canal MP:0009055 abnormal internal anal sphincter morphology any structural anomaly of the smooth muscle ring, formed by an increase of the circular muscle fibers of the rectum, situated at the upper end of the anal canal, internal to the outer voluntary external anal sphincter MP:0009056 abnormal interleukin-21 secretion anomaly in the production or release of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells MP:0009057 increased interleukin-21 secretion increase in the production or release of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells MP:0009058 decreased interleukin-21 secretion reduction in the production or release of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells MP:0009059 abnormal circulating interleukin-21 level anomaly in the amount in the blood of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells MP:0009060 increased circulating interleukin-21 level increase in the amount in the blood of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells MP:0009061 decreased circulating interleukin-21 level reduction in the amount in the blood of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells MP:0009062 impaired lectin complement pathway abnormal function of the plasma protein cascade triggered by binding of lectin(s) to carbohydrate groups found on pathogen cell surfaces MP:0009063 abnormal oviduct size anomaly in the average size of the tube through which the ova pass from the ovary to the uterus MP:0009064 oviduct atrophy acquired diminution of the size of the oviduct associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0009065 abnormal oviduct weight anomaly in the average weight of the tube through which the ova pass from the ovary to the uterus MP:0009066 decreased oviduct weight reduction in the average weight of the tube through which the ova pass from the ovary to the uterus MP:0009067 increased oviduct weight greater average weight of the tube through which the ova pass from the ovary to the uterus MP:0009068 enlarged oviduct increased size of the tube through which the ova pass from the ovary to the uterus MP:0009069 dilated oviduct an expansion in the volume or area of one or both tubes through which the ova pass from the ovary to the uterus, usually with an increase in contained fluid MP:0009070 small oviduct reduced size of the tube through which the ova pass from the ovary to the uterus MP:0009071 short oviduct length reduction or truncation of the tube through which the ova pass from the ovary to the uterus MP:0009072 absent cranial vagina absence of the upper third of the female reproductive canal located between the uterus and the vulva, usually due to a developmental arrest or agenesis of the caudal Mullerian ducts MP:0009073 absent Wolffian ducts absence of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male MP:0009074 Wolffian duct degeneration a retrogressive impairment of function or destruction of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male MP:0009075 rudimentary Wolffian ducts not fully developed or remnants of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male MP:0009076 rudimentary Mullerian ducts not fully developed or remnants of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and cranial vagina MP:0009077 abnormal cranial vagina morphology any structural anomaly of the upper third of the female reproductive canal located between the uterus and the vulva, usually due to a developmental arrest or agenesis of the caudal Mullerian ducts MP:0009078 adrenal gland hyperplasia increase in the number of normal cells in normal arrangement in the adrenal gland, typically resulting in increased size MP:0009079 prolapsed intervertebral disk extrusion of the cartilaginous and gelatinous structure found between vertebrae MP:0009080 uterus inflammation local accumulation of fluid, plasma proteins, and leukocytes in the uterus MP:0009081 thin uterus reduced thickness or depth of the female muscular organ of gestation MP:0009082 uterus cyst presence of one or more fluid-filled sacs inside the lumen of the uterus; usually refers to benign growths MP:0009083 uterus hypertrophy increase in the bulk size of the female muscular organ of gestation due to cell enlargement MP:0009084 blind uterus presence of a female muscular organ of gestation that ends in a blind segment or sac and does not communicate with the cervix or vagina MP:0009085 abnormal uterine horn morphology any structural anomaly of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet; uterine horns are anterior Mullerian duct-derived structures MP:0009086 blind uterine horn presence of a blind-ended segment or pouch at the junction of the uterine horn and the uterine body; the blind horn is typically distended by fluid MP:0009087 dilated uterine horn an expansion in the volume or area of one or both of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet, usually with an increase in contained fluid MP:0009088 thin uterine horn reduced thickness of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet MP:0009089 short uterine horn length reduction or truncation of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet MP:0009090 myometrium hypoplasia decrease in the number of normal cells in normal arrangement in the myometrium, typically resulting in decreased size MP:0009091 endometrium hypoplasia decrease in the number of normal cells in normal arrangement in the endometrium, typically resulting in decreased size MP:0009092 endometrium hyperplasia increase in the number of normal cells in normal arrangement in the endometrium, typically resulting in increased size MP:0009093 oocyte degeneration a retrogressive impairment of function or destruction of the female germ cells MP:0009094 abnormal endometrial gland morphology any structural anomaly of the numerous simple or branched tubular glands lined by ciliated columnar epithelium and found in the mucus membrane of the uterus which secrete mucus, lipids, glycogen, and protein; endometrial glands and their secretions (termed histotroph) are critical regulators of peri-implantation embryo survival and implantation as well as establishment of uterine receptivity MP:0009095 abnormal endometrial gland number abnormal number of the simple or branched tubular glands located in the mucous membrane of the uterus MP:0009096 decreased endometrial gland number fewer than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus MP:0009097 absent endometrial glands absence of the simple or branched tubular uterine glands MP:0009098 anovaginal fistula an abnormal anatomical passage that connects the anal canal and the vagina MP:0009099 abnormal uterine NK cell physiology any functional anomaly of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy MP:0009100 abnormal clitoris size anomaly in the size of the small cylindrical erectile body located at the most anterior portion of the vulva MP:0009101 clitoris hypoplasia decrease in the number of normal cells in normal arrangement in the clitoris, typically resulting in decreased size MP:0009102 abnormal glans penis morphology any structural anomaly of the conic expansion of the corpus spongiosum that forms the head of the penis MP:0009103 abnormal penile bone morphology any structural anomaly of the unique bone located in the glans penis of most mammals except humans; it is used for copulation and varies in size and shape by species MP:0009104 small penile bone size reduction or truncation of the unique bone of variable size and shape located in the glans penis of most mammals except humans MP:0009105 penis prolapse inability to withdraw the penis into the prepuce (the fold of skin covering the glans penis), other than a paraphimosis; not to be confused with phimosis MP:0009106 abnormal pancreas size anomaly in the average size of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MP:0009107 abnormal pancreas weight anomaly in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MP:0009108 increased pancreas weight increase in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MP:0009109 decreased pancreas weight reduction in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MP:0009110 pancreas hyperplasia increase in the number of normal cells in normal arrangement in the pancrease, typically resulting in increased size MP:0009111 pancreas hypoplasia decrease in the number of normal cells in normal arrangement in the pancreas, typically resulting in decreased size MP:0009112 abnormal pancreatic beta cell mass anomaly in the total physical bulk or volume of a pancreatic beta cell compared to the normal state MP:0009113 increased pancreatic beta cell mass greater total physical bulk or volume of a pancreatic beta cell compared to the normal state MP:0009114 decreased pancreatic beta cell mass reduced total physical bulk or volume of a pancreatic beta cell compared to the normal state MP:0009115 abnormal fat cell morphology any structural anomaly of a fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals MP:0009116 abnormal brown fat cell morphology any structural anomaly of cells from the thermogenic form of adipose tissue found in newborns of many species, including humans, and in hibernating mammals; brown fat is capable of rapid liberation of energy and seems to be important in the maintenance of body temperature immediately after birth and upon waking from hibernation; brown adipocytes contain multiple small droplets of triglycerides and a high number of mitochondria MP:0009117 abnormal white fat cell morphology any structural anomaly of fat cells with light coloration and few mitochondria; these contain a scant ring of cytoplasm surrounding a single large lipid droplet or vacuole MP:0009118 increased white fat cell size increase in the size of fat cells with light coloration and few mitochondria MP:0009119 increased brown fat cell size increase in the size of fat cells from the thermogenic form of adipose tissue MP:0009120 abnormal white fat cell lipid droplet size anomaly in the size of the single large lipid droplet or vacuole of white fat cells MP:0009121 increased white fat cell lipid droplet size increase in the size of the single large lipid droplet or vacuole of white fat cells MP:0009122 decreased white fat cell lipid droplet size reduction in the size of the single large lipid droplet or vacuole of white fat cells MP:0009123 abnormal brown fat cell lipid droplet size anomaly in the size of the multiple small droplets of triglycerides found in brown adipocytes MP:0009124 increased brown fat cell lipid droplet size increase in the size of the multiple small droplets of triglycerides found in brown adipocytes MP:0009125 decreased brown fat cell lipid droplet size reduction in the size of the multiple small droplets of triglycerides found in brown adipocytes MP:0009126 abnormal brown fat cell number anomaly in the number of fat cells from the thermogenic form of adipose tissue MP:0009127 increased brown fat cell number increase in the number of fat cells from the thermogenic form of adipose tissue MP:0009128 decreased brown fat cell number reduction in the number of fat cells from the thermogenic form of adipose tissue MP:0009129 abnormal white fat cell number anomaly in the number of fat cells with light coloration and few mitochondria MP:0009130 increased white fat cell number increase in the number of fat cells with light coloration and few mitochondria MP:0009131 decreased white fat cell number reduction in the number of fat cells with light coloration and few mitochondria MP:0009132 abnormal white fat cell size anomaly in the size of fat cells with light coloration and few mitochondria MP:0009133 decreased white fat cell size reduction in the size of fat cells with light coloration and few mitochondria MP:0009134 abnormal brown fat lipid droplet number anomaly in the number of the multiple small droplets of triglycerides found in brown adipocytes MP:0009135 abnormal brown fat cell size anomaly in the size of fat cells from the thermogenic form of adipose tissue MP:0009136 decreased brown fat cell size reduction in the size of fat cells from the thermogenic form of adipose tissue MP:0009137 decreased brown fat lipid droplet number reduction in the number of the multiple small droplets of triglycerides found in brown adipocytes MP:0009138 increased brown fat lipid droplet number increase in the number of the multiple small droplets of triglycerides found in brown adipocytes MP:0009139 failure of Mullerian duct regression failure of the transient embryonic paramesonephric ducts, which normally develop into the oviduct, uterus, cervix and upper vagina in the female, to regress in the male; persistence of Mullerian ducts is typically consistent with a loss of anti-Mullerian hormone signaling and may allow development of the female reproductive tract in males MP:0009140 dilated efferent ductule of testis an expansion in the volume or area of the lumen of one or more of the small seminal ducts that lead from the testis to the head of the epididymis, usually with an increase in contained fluid MP:0009141 increased prepulse inhibition increase in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus MP:0009142 decreased prepulse inhibition decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus MP:0009143 abnormal pancreatic duct morphology any structural anomaly of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum MP:0009144 dilated pancreatic duct an increase in volume of the luminal space of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum MP:0009145 abnormal pancreatic acinus morphology any structural anomaly of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct MP:0009146 abnormal pancreatic acinar cell morphology any structural anomaly of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes MP:0009147 abnormal pancreatic acinar cell physiology any functional anomaly of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes MP:0009148 pancreas necrosis morphological changes resulting from pathological death of pancreas tissue; usually due to irreversible damage MP:0009149 decreased pancreatic acinar cell number reduced number of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes MP:0009150 pancreatic acinar cell atrophy acquired diminution of the pancreatic acinar cells associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0009151 increased pancreatic ductal adenocarcinoma incidence greater than the expected number of an adenocarcinoma that arises from the pancreatic ducts, occurring in a specific population in a given time period MP:0009152 increased pancreatic intraepithelial neoplasia incidence greater than the expected number of noninvasive pancreatic duct lesions that affect smaller caliber ducts and do not involve the main pancreatic duct, occurring in a specific population in a given time period MP:0009153 increased pancreas tumor incidence greater than the expected number of neoplams in the pancreas occurring in a specific population in a given time period MP:0009154 pancreatic acinar hypoplasia decrease in the number of normal cells in normal arrangement in the pancreatic acinus, typically resulting in decreased size; in this context, normal cells are meant to include different cell types such as pancreatic acinar cells and pancreatic centro-acinar cells MP:0009155 pancreatic acinar hyperplasia increase in the number of normal cells in normal arrangement in the pancreatic acinus, typically resulting in increased size; in this context, normal cells are meant to include different cell types such as pancreatic acinar cells and pancreatic centro-acinar cells MP:0009156 absent pancreatic acini absence of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct MP:0009157 ectopic pancreatic acinar cells abnormal position of one or more of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes MP:0009158 absent pancreatic acinar cells absence of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes MP:0009159 increased pancreatic acinar cell number increased number of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes MP:0009160 abnormal pancreatic acinar cell zymogen granule morphology any structural anomaly of a membrane-bounded, cytoplasmic secretory granule found in pancreatic acinar cells and contains inactive digestive enzyme precursors MP:0009161 pancreatic acinar cell zymogen granule accumulation a gradually increasing number of membrane-bounded, cytoplasmic secretory granules found in pancreatic acinar cells that contain inactive digestive enzyme precursors MP:0009162 absent pancreatic acinar cell zymogen granule absence of a membrane-bounded, cytoplasmic secretory granule found in pancreatic acinar cells and contains inactive digestive enzyme precursors MP:0009163 absent pancreatic duct absence of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum MP:0009164 exocrine pancreas atrophy acquired diminution of the size of the acinar gland portion of the pancreas that secretes digestive enzymes, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0009165 abnormal endocrine pancreas morphology any structural anomaly of the smaller portion of the pancreas that secretes a number of hormones into the blood stream that are produced by the cells in the islets of Langerhans MP:0009166 abnormal pancreatic islet number anomaly in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas MP:0009167 increased pancreatic islet number increase in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas MP:0009168 decreased pancreatic islet number reduction in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas MP:0009169 pancreatic islet hypoplasia decrease in the number of normal cells in normal arrangement in the pancreatic islets, typically resulting in decreased size MP:0009170 abnormal pancreatic islet size anomaly in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas MP:0009171 enlarged pancreatic islets increase in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas MP:0009172 small pancreatic islets decrease in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas MP:0009173 absent pancreatic islets absence of the clusters of hormone-producing cells that are scattered throughout the pancreas MP:0009174 absent pancreatic beta cells absence of the cells of the pancreas that secrete insulin MP:0009175 abnormal pancreatic beta cell differentiation atypical production of or inability to produce the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas, and/or accumulation of pancreatic beta cell precursors MP:0009176 increased pancreatic alpha cell number increase in the number of the cells of the pancreas that secrete glucagon MP:0009177 decreased pancreatic alpha cell number reduction in the number of the cells of the pancreas that secrete glucagon MP:0009178 absent pancreatic alpha cells absence of the cells of the pancreas that secrete glucagon MP:0009179 abnormal pancreatic alpha cell differentiation atypical production of or inability to produce the cells of the pancreas that secrete glucagon, and/or accumulation of pancreatic alpha cell precursors MP:0009180 increased pancreatic delta cell number increased number of the cells found in the pancreas that secrete somatostatin MP:0009181 decreased pancreatic delta cell number reduced number of the cells found in the pancreas that secrete somatostatin MP:0009182 absent pancreatic delta cells absence of the cells found in the pancreas that secrete somatostatin MP:0009183 abnormal pancreatic delta cell differentiation atypical production of or inability to produce the cells found in the pancreas that secrete somatostatin, and/or accumulation of pancreatic delta cell precursors MP:0009184 abnormal PP cell morphology any structural anomaly of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas MP:0009185 increased PP cell number increased number of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas MP:0009186 decreased PP cell number reduced number of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas MP:0009187 absent PP cells absence of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas MP:0009188 abnormal PP cell differentiation atypical production of or inability to produce the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas, and/or accumulation of PP cell precursors MP:0009189 abnormal pancreatic epsilon cell morphology any structural anomaly of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin MP:0009190 increased pancreatic epsilon cell number increase in the number of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin MP:0009191 decreased pancreatic epsilon cell number reduction in the number of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin MP:0009192 absent pancreatic epsilon cells absence of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin MP:0009193 abnormal pancreatic epsilon cell differentiation atypical production of or inability to produce the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin, and/or accumulation of pancreatic epsilon cell precursors MP:0009194 abnormal pancreatic epsilon cell physiology any functional anomaly of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin MP:0009195 abnormal PP cell physiology any functional anomaly of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas MP:0009196 abnormal pancreatic ghrelin secretion anomaly in the production and/or regulated release from pancreatic epsilon cells of a 28-amino acid, acylated, orexigenic peptide that acts centrally to stimulate growth hormone secretion and food intake, and peripherally to regulate energy homeostasis; it is cleaved from a large precursor protein, known as appetite-regulating hormone or motilin-related peptide, which contains both ghrelin and obestatin MP:0009197 abnormal pancreatic polypeptide secretion anomaly in the production and/or regulated release of the 36-amino acid pancreatic hormone that is secreted mainly by endocrine cells found at the periphery of the islets of Langerhans in response to ingestions, and regulates gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite MP:0009198 abnormal male genitalia morphology any structural anomaly of the masculine organs of reproduction or generation, external or internal MP:0009199 abnormal external male genitalia morphology any structural anomaly of the external masculine genital organs, including the penis and scrotum MP:0009200 enlarged external male genitalia increased size of the external masculine genital organs, including the penis and scrotum MP:0009201 external male genitalia atrophy acquired diminution of the size of the external masculine genital organs, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0009202 small external male genitalia reduced size of the external masculine genital organs MP:0009203 external male genitalia hypoplasia decrease in the number of normal cells in normal arrangement in the external male genitalia, typically resulting in decreased size MP:0009204 absent external male genitalia absence of the external masculine genital organs, including the penis and scrotum MP:0009205 abnormal internal male genitalia morphology any structural anomaly of the internal masculine genital organs, including the testes, epididymides, deferent ducts, seminal vesicles, prostate, ejaculatory ducts, and bulbourethral glands MP:0009206 absent internal male genitalia absence of the internal masculine genital organs, including the testes, epididymides, deferent ducts, seminal vesicles, prostate, ejaculatory ducts, and bulbourethral glands MP:0009207 internal male genitalia hypoplasia decrease in the number of normal cells in normal arrangement in the internal male genitalia, typically resulting in decreased size MP:0009208 abnormal female genitalia morphology any structural anomaly of the feminine organs of reproduction or generation, external or internal MP:0009209 abnormal internal female genitalia morphology any structural anomaly of the internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina MP:0009210 absent internal female genitalia absence of the internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina MP:0009211 absent external female genitalia absence of the external feminine genital organs, collectively known as the vulva MP:0009212 vulva atrophy acquired diminution of the size of the external feminine genital organs, collectively known as the vulva, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0009213 absent male inguinal canal absence of the passage in the lower abdominal wall through which the spermatic cord, nerves and vessels normally pass from the pelvic cavity to the scrotum MP:0009214 vas deferens hypoplasia decrease in the number of normal cells in normal arrangement in the vas deferens, typically resulting in decreased size MP:0009215 absent uterine horn absence of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet MP:0009216 abnormal peritoneum morphology any structural anomaly of the serous sac, consisting of mesothelium and a thin external layer of irregular connective tissue, that lines the abdominopelvic cavity and covers most of the viscera contained therein; it forms two sacs: the peritoneal (or greater) sac and the omental bursa (lesser sac) connected by the omental foramen MP:0009217 abnormal peritoneal vaginal process morphology any structural anomaly of the peritoneal diverticulum in the embryonic lower anterior abdominal wall that traverses the inguinal canal; in the male it forms the tunica vaginalis testis and normally loses its connection with the peritoneal cavity; a persistent processus vaginalis in the female is known as the canal of Nuck MP:0009218 absent peritoneal vaginal process absence of the peritoneal diverticulum in the embryonic lower anterior abdominal wall that traverses the inguinal canal MP:0009219 increased prostate intraepithelial neoplasia incidence higher than normal incidence of a non-invasive neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland MP:0009220 increased prostate gland adenocarcinoma incidence higher than normal incidence of a malignant neoplasm arising from prostate tissue MP:0009221 uterus adenomyosis a benign invasion of myometrium by endometrial tissue MP:0009222 increased uterus tumor incidence greater than the expected number of abnormal rapidly proliferating cells in the uterus, usually in the form of a distinct mass, occurring in a specific population in a given time period MP:0009223 increased uterus carcinoma incidence greater than the expected number of malignant neoplasms derived from uterine epithelial cells, occurring in a specific population in a given time period MP:0009224 absent endometrium absence of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy MP:0009225 abnormal uterine cervix size anomaly in the size of the lower opening of the uterus to the vagina MP:0009226 small uterine cervix reduced size of the lower opening of the uterus to the vagina MP:0009227 uterine cervix hypoplasia decrease in the number of normal cells in normal arrangement in the uterine cervix, typically resulting in decreased size MP:0009228 uterine cervix inflammation local accumulation of fluid, plasma proteins, and leukocytes in the cervix MP:0009229 abnormal neurohypophysis median eminence morphology any structural anomaly of the raised area at the infundibular region of the neurohypophysis where the secretions of the hypothalamic neurons (releasing and inhibiting regulatory hormones) collect before entering the capillary network of hypophyseal portal system MP:0009230 abnormal sperm head morphology any structural anomaly of the head segment of the sperm cell which contains the nucleus with densely coiled chromatin fibers, and is surrounded anteriorly by the acrosome which contains enzymes used for penetrating the female egg MP:0009231 detached acrosome detachment or loss of adhesion of the acrosome cap from the sperm head nucleus MP:0009232 abnormal sperm nucleus morphology any structural anomaly of the sperm head nucleus, including an abnormal nuclear shape or defects in the compaction of nuclear chromatin MP:0009233 enlarged sperm head increased size of the head segment of the sperm cell MP:0009234 absent sperm head absence of the head segment of the sperm cell MP:0009235 small sperm head reduced size of the head segment of the sperm cell MP:0009236 pinhead sperm a sperm head that is unusually oblong in shape and much smaller than normal; typically, pinhead sperm result when the centrioles from which the sperm tails develop are not correctly aligned opposite the developing acrosome so that sperm heads are lost and absorbed during epididymal transit MP:0009237 kinked sperm flagellum a sharp bend or zigzag in the sperm tail MP:0009238 coiled sperm flagellum abnormal twisting of the sperm flagellum into coils or spirals MP:0009239 short sperm flagellum decreased length of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility MP:0009240 elongated sperm flagellum increased length of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility MP:0009241 thick sperm flagellum increased distance across the short axis of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility MP:0009242 thin sperm flagellum reduced distance across the short axis of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility MP:0009243 hairpin sperm flagellum a structural alteration where the sperm flagellum becomes bent back (folded) on itself to form a hairpin (loop) structure; a sharp hairpin-like bend formation can disrupt the axial structures and cause the sperm tail to become kinked MP:0009244 abnormal acid-activated cation-mediated receptor currents change in the measured amplitude, current density or duration of response to stimulation of acid-activated cation-mediated receptors MP:0009245 caudal rachischisis congenitial fissure of the vertebral column at the caudal end of the body MP:0009246 pale spleen spleen lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition MP:0009247 meteorism condition in which excess gas accumulates in the gastrointestinal tract or peritoneal cavity, often resulting in abdominal distention, excess flatulence and/or belching MP:0009248 small caput epididymis decrease in the average size of the head of the epididymis MP:0009249 enlarged caput epididymis increase in the average size of the head of the epididymis MP:0009250 abnormal appendicular skeleton morphology any structural anomaly of the bones of the limbs, shoulder and pelvic girdles MP:0009251 enlarged endometrial glands increase in the average size of the simple or branched tubular glands located in the mucous membrane of the uterus MP:0009252 absent urinary bladder absence of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys MP:0009253 abnormal sympathetic neuron physiology any functional anomaly of any of the neurons of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations MP:0009254 disorganized pancreatic islets derangement of the normal pattern of the hormone-producing cells within an islet; normally, the beta cells occupy the central portion of the islet and are surrounded by a corona of alpha and delta cells MP:0009255 degranulated pancreatic beta cells insulin-secreting cells of the pancreas do not contain vesicles containing insulin MP:0009256 enlarged corpus epididymis increase in the average size of the body of the epididymis MP:0009257 dilated seminiferous tubule the luminal space of one or more of the seminiferous tubules is increased in volume or area, usually with an increase in contained fluid MP:0009258 abnormal thymocyte apoptosis change in the timing or the number of immature T cells located in the thymus that are undergoing programmed cell death MP:0009259 abnormal vestibular saccule duct morphology any structural anomaly of the saccular portion of the utriculosaccular duct that normally extends from the sacculus to the endolymphatic duct MP:0009260 abnormal utricle duct morphology any structural anomaly of the utricular portion of the utriculosaccular duct that normally extends from the utriculus to the endolymphatic duct MP:0009261 abnormal utricle valve morphology any structural anomaly of the utriculo-endolymphatic (UE) valve which is located in the antero-inferior wall of the utricle at the orifice of the utricular duct and serves to regulate endolymph volume in the endolymphatic sac, the utricle and the canals MP:0009262 absent semicircular canal ampulla absence of the spherical enlargement at the base of each semicircular canal where they connect with the utricle, containing the crista ampullaris which detects movement of the fluid within the canals MP:0009263 abnormal eyelid fusion anomaly in the process by which the upper and lower eyelids are joined during development MP:0009264 failure of eyelid fusion the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye do not fuse together during development; normally fused by E17 in the mouse MP:0009265 delayed eyelid fusion later than average time of the joining of the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye MP:0009266 abnormal mesendoderm development failure or abnormality in the formation of the embryonic cell layer that gives rise to both the endoderm and mesoderm MP:0009267 abnormal cerebellum fissure morphology any structural anomaly of the deep furrows which divide the lobules of the cerebellum, including the postcentral, primary and secondary furrows MP:0009268 absent cerebellum fissure absence of the deep furrows which divide the lobules of the cerebellum, including the postcentral, primary and secondary furrows MP:0009269 decreased fat cell size reduction in the size of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals MP:0009270 abnormal guard hair length anomaly in the length of the long, straight truncal hairs that contain two air cells in the medulla MP:0009271 increased guard hair length increase in the length of the long, straight truncal hairs that contain two air cells in the medulla MP:0009272 decreased guard hair length reduction in the length of the long, straight truncal hairs that contain two air cells in the medulla MP:0009273 abnormal hair shaft melanin granule shape the form of pigment polymers in the hair shaft differs compared to controls MP:0009274 buphthalmos abnormal enlargement of the eye that is usually congenital and attended by symptoms of glaucoma MP:0009275 bruising an injury to biological tissue in which the capillaries are damaged, allowing blood to seep into the surrounding tissue; it should not be confused with ecchymosis, though the terms are related MP:0009276 ecchymosis an ecchymosis is a spot caused by loss of blood from a vessel; it implies a larger size than a petechiae, and has a more diffuse border than purpura; an ecchymosis can be caused by a bruise (which implies trauma), but can also be caused by bleeding diathesis MP:0009277 increased brain tumor incidence greater than the expected number of abnormal rapidly proliferating cells in the brain, usually in the form of a distinct mass, occurring in a specific population in a given time period MP:0009278 abnormal bone marrow cell physiology any functional anomaly of any of the cells found in the bone marrow MP:0009279 abnormal activated sperm motility any anomaly in the type of sperm mobility that is observed in freshly ejaculated sperm and is thought to help propel the sperm through the female reproductive tract to the oviduct; normally, the flagellum of an activated sperm generates a symmetrical, lower amplitude waveform that drives the sperm in a relatively straight line MP:0009280 decreased activated sperm motility loss or reduction of the activated type of sperm mobility, resulting in immotile sperm that are generally unable to reach the uterotubal junction; decreases in activated sperm motility may result in reduced male fertility MP:0009281 abnormal hyperactivated sperm motility any anomaly in the type of sperm motility that is observed in most sperm recovered from the site of fertilization and is thought to help sperm detach from the oviductal epithelium, reach the site of fertilization, and penetrate the cumulus and zona pellucida of the oocyte; normally, once sperm from most species become hyperactivated, the flagellar beat becomes asymmetrical and higher amplitude, resulting in circular or figure-eight trajectories MP:0009282 decreased hyperactivated sperm motility loss or reduction of the hyperactivated type of sperm mobility, impairing the ability of sperm to reach the site of fertilization and to penetrate the oocyte vestments; a block in hyperactivated motility may also impair the ability of a sperm to fertilize an oocyte in vitro MP:0009283 decreased gonadal fat pad weight less than average weight of the encapsulated adipose tissue associated with the ovaries or testes MP:0009284 abnormal sympathetic neuron innervation pattern any changes in the placement, morphology or number of nerve fibers to sympathetic termini MP:0009285 increased gonadal fat pad weight greater than average weight of the encapsulated adipose tissue associated with the ovaries or testes MP:0009286 increased abdominal fat pad weight greater than average weight of the encapsulated adipose tissue in the abdomen MP:0009287 decreased abdominal fat pad weight less than average weight of the encapsulated adipose tissue in the abdomen MP:0009288 increased epididymal fat pad weight greater than average weight of the encapsulated adipose tissue associated with the epididymis MP:0009289 decreased epididymal fat pad weight less than average weight of the encapsulated adipose tissue associated with the epididymis MP:0009290 increased femoral fat pad weight greater than average weight of the encapsulated adipose tissue associated with the femur MP:0009291 decreased femoral fat pad weight less than average weight of the encapsulated adipose tissue associated with the femur MP:0009292 increased inguinal fat pad weight greater than average weight of the encapsulated adipose tissue found in the groin MP:0009293 decreased inguinal fat pad weight less than average weight of the encapsulated adipose tissue found in the groin MP:0009294 increased interscapular fat pad weight greater than average weight of the encapsulated adipose tissue located between the scapulae MP:0009295 decreased interscapular fat pad weight less than average weight of the encapsulated adipose tissue located between the scapulae MP:0009296 increased mammary fat pad weight greater than average weight of the encapsulated adipose tissue associated with the mammary gland MP:0009297 decreased mammary fat pad weight less than average weight of the encapsulated adipose tissue associated with the mammary gland MP:0009298 increased mesenteric fat pad weight greater than average weight of the encapsulated adipose tissue associated with the mesentery MP:0009299 decreased mesenteric fat pad weight less than average weight of the encapsulated adipose tissue associated with the mesentery MP:0009300 increased parametrial fat pad weight greater than average weight of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament MP:0009301 decreased parametrial fat pad weight less than average weight of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament MP:0009302 increased renal fat pad weight greater than average weight of the encapsulated adipose tissue associated with the kidney MP:0009303 decreased renal fat pad weight less than average weight of the encapsulated adipose tissue associated with the kidney MP:0009304 increased retroperitoneal fat pad weight greater than average weight of the encapsulated adipose tissue found on the dorsal side of the peritoneum MP:0009305 decreased retroperitoneal fat pad weight less than average weight of the encapsulated adipose tissue found on the dorsal side of the peritoneum MP:0009306 increased uterine fat pad weight greater than average weight of the encapsulated adipose tissue associated with the uterus MP:0009307 decreased uterine fat pad weight less than average weight of the encapsulated adipose tissue associated with the uterus MP:0009308 increased adenocarcinoma incidence higher than normal incidence of a malignant neoplasm of epithelial cells in a glandular or glandular-like pattern MP:0009309 increased small intestine adenocarcinoma incidence higher than normal incidence of a malignant neoplasm of epithelial cells in the small intestine MP:0009310 increased large intestine adenocarcinoma incidence higher than normal incidence of a malignant neoplasm of epithelial cells in the large intestine MP:0009311 increased duodenum adenocarcinoma incidence higher than normal incidence of a malignant neoplasm of epithelial cells in the duodenum MP:0009312 increased jejunum adenocarcinoma incidence higher than normal incidence of a malignant neoplasm of epithelial cells in the jejunum MP:0009313 increased cecum adenocarcinoma incidence higher than normal incidence of a malignant neoplasm of epithelial cells in the cecum MP:0009314 increased colon adenocarcinoma incidence higher than normal incidence of a malignant neoplasm of epithelial cells in the colon MP:0009315 increased rectum adenocarcinoma incidence higher than normal incidence of a malignant neoplasm of epithelial cells in the rectum MP:0009316 increased anal adenocarcinoma incidence higher than normal incidence of a malignant neoplasm of epithelial cells in the anal canal MP:0009317 increased follicular lymphoma incidence higher than normal incidence of malignant lymphoma arising from lymphoid follicular B cells which may be small or large MP:0009318 increased splenic marginal zone lymphoma incidence higher than normal incidence of neoplasms arising from the B cell-rich zones of the spleen MP:0009319 increased small lymphocytic lymphoma incidence higher than normal incidence of lymphocytic leukemia where the lymphocytes are not increased in the peripheral blood, but lymph nodes are enlarged and other lymphoid tissue or bone marrow is infiltrated by small lymphocytes MP:0009320 increased lymphoblastic lymphoma incidence higher than normal incidence of diffuse lymphoma with supradiaphragmatic distribution and T lymphocytes having convoluted nuclei MP:0009321 increased histiocytic sarcoma incidence greater than the expected number of malignant tumors derived from histiocytes in a given population in a given time period MP:0009322 increased splenocyte apoptosis increase in the number of spleen cells undergoing programmed cell death MP:0009323 abnormal spleen development aberrant formation or incomplete differentiation of the organ that filters blood and stores red corpuscles and platelets MP:0009324 absent hippocampal fimbria absence of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which eventually thickens to form the fornix and fibers of the hippocampal commissure MP:0009325 necrospermia condition in which spermatozoa in seminal fluid are dead or motionless MP:0009326 absent maternal crouching females do not assume a position over young that facilitates suckling behavior MP:0009327 abnormal maternal grooming females show an anomaly in eliciting the cleaning or tactile stimulus level necessary to initiate nursing by offspring MP:0009328 delayed heart looping late onset of the initiation and/or completion of looping of the primitive heart tube MP:0009329 abnormal primitive pit morphology any structural anomaly of the small depression in the primitive streak that is caudal to the primitive node where the cells of the epiblast initially begin to invaginate during early embryogenesis MP:0009330 abnormal primitive groove morphology any structural anomaly of the shallow valley that extends along the length of the primitive streak MP:0009331 absent primitive node absence of the regional thickening of cells at the rostral tip of the vertebrate primitive streak through which gastrulating cells migrate anteriorally to form tissues in the future head and neck; this region organizes the formation of the three embryonic layers and establishes the longitudinal axis and the polarity of the embryo MP:0009332 abnormal splenocyte morphology any structural anomaly of a cell of the spleen MP:0009333 abnormal splenocyte physiology any functional anomaly of a cell of the spleen MP:0009334 abnormal splenocyte proliferation anomaly in the ability of a splenocyte cell population to undergo expansion by cell division MP:0009335 decreased splenocyte proliferation reduction in the expansion rate of a splenocyte cell population by cell division MP:0009336 increased splenocyte proliferation increase in the expansion rate of a splenocyte cell population by cell division MP:0009337 abnormal splenocyte number deviation from the expected number of cells of the spleen MP:0009338 increased splenocyte number increase in the expected number of cells of the spleen MP:0009339 decreased splenocyte number reduction in the expected number of cells of the spleen MP:0009340 abnormal splenocyte apoptosis deviation in the number of spleen cells undergoing programmed cell death MP:0009341 decreased splenocyte apoptosis reduction in the number of spleen cells undergoing programmed cell death MP:0009342 enlarged gallbladder increased size of the gall bladder, the organ that serves as a storage reservoir for bile MP:0009343 dilated gallbladder abnormal distention of the gall bladder due to accumulation of fluid or bile MP:0009344 abnormal ovulation cycle any anomaly in the type of sexual cycle seen in female mammals, with physiologic changes in the endometrium that recur at regular intervals during the reproductive years MP:0009345 abnormal trabecular bone thickness anomaly in the width of bone that has a lattice-like or spongy structure MP:0009346 decreased trabecular bone thickness thinner than normal bone with a lattice-like or spongy structure MP:0009347 increased trabecular bone thickness thicker than normal bone with a lattice-like or spongy structure MP:0009348 abnormal urine pH any anomaly in urinary pH, indicating alterations in urine acidity or alkalinity MP:0009349 increased urine pH increased urine alkalinity MP:0009350 decreased urine pH increased urine acidity MP:0009351 thin hair shaft the average diameter of coat hair is less than the average diameter of hair from normal individuals MP:0009352 impaired spacing of implantation sites in organisms which give birth to multiple offspring in one litter, blastocysts fail to implant at intervals conducive to the formation of a normal enveloping membrane or decidua for each conceptus from the epithelial tissue of the endometrium lining of the uterus MP:0009353 twin decidual capsule two embryos share one decidual membrane MP:0009354 emprosthotonos a form of tetanic spasm in which the head and feet are drawn forward and the spine arches backward MP:0009355 increased liver triglyceride level greater concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver MP:0009356 decreased liver triglyceride level reduced concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liverower than normal concentration of triacylglycerols in the liver MP:0009357 abnormal seizure response to inducing agent anomaly in the seizure activity response to an agent that normally can induce uncontrolled electrical activity in the brain, producing a physical convulsion and/or minor change in physical behavior MP:0009358 environmentally induced seizures seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage MP:0009359 endometrium atrophy acquired diminution of the size of the uterine endometrium, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0009360 endometrium inflammation local accumulation of fluid, plasma proteins, and leukocytes in the endometrium MP:0009361 abnormal primordial ovarian follicle morphology any structural anomaly in the ovarian follicle that is indiscernible to the naked eye and develops into to primary, secondary, and finally mature vesicular follicles MP:0009362 abnormal primary ovarian follicle morphology any structural anomaly in the ovarian follicle that is characterized by the presence of a single layer of granulosa cells MP:0009363 abnormal tertiary ovarian follicle morphology any structural anomaly in the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers MP:0009364 abnormal mature ovarian follicle morphology any structural anomaly in the ovarian follicle that is ready for ovulation and presents a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle MP:0009365 abnormal theca cell layer morphology any structural anomaly in the envelope of condensed connective tissue surrounding an ovarian follicle starting at the secondary follicle stage; the theca folliculi are divided into two layers, an internal vascular layer (tunica interna) and an external fibrous layer (tunica externa) MP:0009366 abnormal theca interna morphology any structural anomaly in the inner cellular and vascular layer of the theca of a secondary ovarian follicle; evidence indicates that the epithelioid cells produce androgens and contribute to the formation of the corpus luteum after ovulation MP:0009367 abnormal theca externa morphology any structural anomaly in the external fibrous layer of the theca of a secondary ovarian follicle; the theca externa contains abundant collagen and is mainly supportive MP:0009368 absent theca folliculi absence of the internal, external or both layers of the sheath of stroma surrounding a secondary ovarian follicle MP:0009369 abnormal theca cell number abnormal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle MP:0009370 decreased theca cell number fewer than normal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle MP:0009371 increased theca cell number greater than normal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle MP:0009372 abnormal cumulus oophorus morphology atypical formation of or inability to produce a mass of epithelial granulosa cells around the oocyte in the maturing Graafian follicle; the cumulus oophorus begins to expand dramatically when cumulus cells are induced to synthesize hyaluronic acid which aggregates in a viscous intercellular matrix MP:0009373 abnormal cumulus expansion anomaly in the ability of the cumulus cells to synthesize and accumulate hyaluronan into an extracellular matrix (ECM), which provides an essential microenvironment for oocyte fertilization; this expanded ECM binds the oocyte and the cumulus cells together, protects the oocyte from the proteolytic and mechanical stresses during extrusion, and allows sperm binding, penetration, and fertilization MP:0009374 absent cumulus expansion complete inability of the cumulus cells to secrete an extensive extracellular matrix required for successful fertilization MP:0009375 thin zona pellucida reduced thickness of the solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation MP:0009376 abnormal manchette morphology any structural anomaly of the conic array of microtubules that invests the posterior nucleus of a spermatid, and is believed to play a role in definitive posterior head-shaping events during spermiogenesis MP:0009377 ectopic manchette abnormal position of the conic array of microtubules that normally invests the posterior nucleus of a spermatid MP:0009378 abnormal endoplasmic reticulum morphology any structural anomaly of irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells MP:0009379 abnormal foot pigmentation anomaly in the coloration of the foot due to changes in the amount, shape, or distribution of cells producing pigment MP:0009380 abnormal prostate gland ventral lobe morphology any structural anomaly of the rodent prostate lobe that is located below the ventral aspect of the bladder neck MP:0009381 abnormal prostate gland dorsolateral lobe morphology any structural anomaly of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle MP:0009382 abnormal cardiac jelly morphology any structural anomaly of the gelatinous noncellular material between the endothelial lining and the myocardial layer of the developing heart MP:0009383 obsolete abnormal truncus arteriosus morphology OBSOLETE. any structural anomaly of the common arterial trunk opening out of both ventricles that divides into the aorta and pulmonary artery during development MP:0009384 cardiac valve regurgitation the backward reflux of blood through a cardiac valve, due to insufficiency caused by disease, aging or congenital malformation MP:0009385 abnormal dermal pigmentation anomaly in the coloration of the dermal layer of the skin due to changes in the amount, shape, or distribution of cells producing pigment MP:0009386 abnormal dermal melanocyte morphology any structural anomaly of the cells that produce pigment in the dermis MP:0009387 abnormal epidermal pigmentation anomaly in the coloration of the epidermal layer of the skin due to changes in the amount, shape, or distribution of cells producing pigment MP:0009388 abnormal epidermal melanocyte morphology any structural anomaly of the cells that produce pigment in the epidermis MP:0009389 abnormal extracutaneous pigmentation anomaly in the coloration of organs and tissues excluding the integument due to changes in the amount, shape, or distribution of cells producing pigment MP:0009390 abnormal otic pigmentation any anomaly in the pigment or pigment-producing cells of the inner ear resulting in abnormal melanoblast numbers, distribution, or pigment during development MP:0009391 abnormal leptomeninges pigmentation any anomaly in the coloring of the two innermost layers of the meninges, including the pia mater and the arachnoid, due to changes in the amount, shape, or distribution of cells producing pigment MP:0009392 retina gliosis increased proliferation of neuroglia in a damaged area of the retina that may lead to the formation of scar tissue MP:0009393 abnormal resting posture atypical intentionally or habitually assumed position of the limbs compared to normal carriage when the body is inactive MP:0009394 increased uterine NK cell number increased cell number of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy MP:0009395 increased nucleated erythrocyte cell number presence of increased numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells MP:0009396 small endometrial glands decrease in the average size of the simple or branched tubular glands located in the mucous membrane of the uterus MP:0009397 increased trophoblast giant cell number greater than normal number of cells of the extraembryonic cell layer that contributes to the placenta MP:0009398 abnormal skeletal muscle fiber size anomaly in the size of the large multinucleated cells that make up the skeletal muscles MP:0009399 increased skeletal muscle fiber size increase in the size of the large multinucleated cells that make up the skeletal muscles MP:0009400 decreased skeletal muscle fiber size decrease in the size of the large multinucleated cells that make up the skeletal muscles MP:0009401 increased skeletal muscle fiber diameter increased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge MP:0009402 decreased skeletal muscle fiber diameter decreased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge MP:0009403 increased variability of skeletal muscle fiber size greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls MP:0009404 centrally nucleated skeletal muscle fibers cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy MP:0009405 increased skeletal muscle fiber number increased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles MP:0009406 decreased skeletal muscle fiber number decreased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles MP:0009407 increased skeletal muscle fiber density increase in the number of skeletal muscle fibers in a given cross-sectional area of a skeletal muscle MP:0009408 decreased skeletal muscle fiber density decrease in the number of skeletal muscle fibers in a given cross-sectional area of a skeletal muscle MP:0009409 abnormal skeletal muscle fiber type ratio deviation from the standard ratios of fiber types in a given skeletal muscle compared to control samples MP:0009410 abnormal skeletal muscle satellite cell proliferation anomaly in the ability of the elongated, spindle-shaped cells located between the basal lamina and the plasmalemma of a muscle fiber to undergo expansion by cell division, usually triggered by injury or disease; these cells are mostly quiescent, but upon activation they divide to produce cells that generate new muscle fibers MP:0009411 abnormal skeletal muscle fiber triad morphology any structural anomaly of the skeletal muscle fiber structure comprised of the transverse tubule and the two associated terminal cisternae; each fiber normally has thousands of triads MP:0009412 skeletal muscle fiber degeneration pathological deterioration of skeletal muscle fiber tissue, often accompanied by loss of function MP:0009413 skeletal muscle fiber atrophy acquired diminution of the size of skeletal muscle fibers associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation MP:0009414 skeletal muscle fiber necrosis morphological changes resulting from pathological death of skeletal muscle fiber tissue; usually due to irreversible damage MP:0009415 skeletal muscle degeneration pathological deterioration of skeletal muscle tissue, often accompanied by loss of function MP:0009416 cardiac muscle degeneration pathological deterioration of cardiac muscle tissue, often accompanied by loss of function MP:0009417 skeletal muscle atrophy acquired diminution of the size of skeletal muscle tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation MP:0009418 cardiac muscle atrophy acquired diminution of cardiac muscle tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation MP:0009419 skeletal muscle fibrosis formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process MP:0009420 skeletal muscle endomysial fibrosis replacement of the layer of connective tissue that ensheaths a muscle fiber by fibrous tissue resulting in separation of individual fibers MP:0009421 increased gastrocnemius weight increase in the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles MP:0009422 decreased gastrocnemius weight reduction in the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles MP:0009423 increased extensor digitorum longus weight increase in the weight of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle MP:0009424 decreased extensor digitorum longus weight reduction in the weight of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle MP:0009425 increased soleus weight increase in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot MP:0009426 decreased soleus weight reduction in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot MP:0009427 increased tibialis anterior weight increase in the weight of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot MP:0009428 decreased tibialis anterior weight redcution in the weight of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot MP:0009429 decreased embryo weight reduced weight of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis) MP:0009430 increased embryo weight increase in the weight of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis) MP:0009431 decreased fetal weight reduced weight of a fetus compared to controls (sensu Mus: from E14 through birth) MP:0009432 increased fetal weight increase in the weight of a fetus compared to controls (sensu Mus: from E14 through birth) MP:0009433 polyovular ovarian follicle an ovarian follicle containing more than one oocyte (ovum) MP:0009434 paraparesis a weakness affecting both lower or hind limbs MP:0009435 abnormal miniature inhibitory postsynaptic currents defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an inhibitory impulse MP:0009436 fragmentation of sleep/wake states short bouts of sleep/wake stages with an increased number of transitions among these stages compared to controls MP:0009437 arytenoid and cricoid cartilage fusion union of the arytenoid and cricoid cartilages into one structure, when this fusion does not normally occur MP:0009438 cricoid and tracheal cartilage fusion union of the cricoid cartilage and one or more of the tracheal rings into one structure, when this fusion does not normally occur MP:0009439 increased myeloid sarcoma incidence higher than normal incidence of a malignant tumor of immature myeloid cells, often associated with or preceeding granulocytic leukemia MP:0009440 increased myeloma incidence higher than normal incidence of a bone marrow cancer in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body MP:0009441 delayed skin barrier formation slowed progression in the establishment of the ability of the skin to regulate water loss MP:0009442 increased ovarian teratoma incidence greater than the expected number of a usually benign tumor found in the ovary, occurring in a specific population in a given time period; ovarian teratomas are typically the result of an anomaly of oogenesis and typically contains a diversity of tissues often representing all organ systems e.g. hair, teeth, bone, thyroid, nerve tissue MP:0009443 parthenogenesis development of an egg into a diploid embryo without being fertilized MP:0009444 ovarian follicular cyst presence of one or more fluid-filled membranous sacs arising when ovarian follicles fail to rupture during ovulation MP:0009445 osteomalacia gradual softening and bending of the bones due to failure of osteoid tissue to calcify as a result of vitamin D deficiency or renal tubular dysfunction MP:0009446 abnormal platelet dense granule physiology any functional anomaly of the specialized secretory organelles located in the small, irregularly shaped anuclear cells derived from fragmentation of precursor megakaryocytes that contain adenine nucleotides (ADP and ATP), ionized calcium, histamine, serotonin, and epinephrine MP:0009447 abnormal platelet ATP level anomaly in the amount of the major energy source adenosine triphosphate produced by dense bodies located in platelets MP:0009448 decreased platelet ATP level reduced concentration of the major energy source adenosine triphosphate produced by dense bodies located in platelets MP:0009449 increased platelet ATP level increased concentration of the major energy source adenosine triphosphate produced by dense bodies located in platelets MP:0009450 abnormal axon fasciculation anomaly in the process by which axons form into nerve fiber bundles MP:0009451 abnormal chromosomal synapsis any anomaly in the meiotic cell cycle process where side by side pairing and physical juxtaposition of homologous chromosomes is created during prophase I of meiosis; synapsis begins when the chromosome arms begin to pair from the clustered telomeres and ends when synaptonemal complex or linear element assembly is complete MP:0009452 abnormal synaptonemal complex an anomaly in the formation of the proteinaceous structure involved in the pairing of homologous chromosomes during first prophase of meiosis MP:0009453 enhanced contextual conditioning behavior increase in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case) MP:0009454 impaired contextual conditioning behavior decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case) MP:0009455 enhanced cued conditioning behavior increase in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash) MP:0009456 impaired cued conditioning behavior decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash) MP:0009457 whorled hair an area of hair growing opposite in direction to the rest of the hair, a curl or swirl MP:0009458 abnormal skeletal muscle size anomaly in the size of the striated muscle fibers connected at either or both extremities with the bony framework of the body MP:0009459 skeletal muscle hyperplasia increase in the number of normal cells in normal arrangement in the skeletal muscle, typically resulting in increased size MP:0009460 skeletal muscle hypoplasia decrease in the number of normal cells in normal arrangement in the skeletal muscle, typically resulting in decreased size MP:0009461 skeletal muscle hypertrophy increase in the bulk size of the skeletal muscle due to cell enlargement MP:0009462 skeletal muscle hypotrophy decrease in the bulk size of the skeletal muscle due to cell shrinkage MP:0009463 abnormal pituitary infundibular stalk morphology any structural anomaly of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland MP:0009465 abnormal gallbladder infundibulum morphology any structural anomaly of the tapering portion of the gall bladder that narrows to form the neck and cystic duct MP:0009466 abnormal uterine tube infundibulum morphology any structural anomaly of the funnel-like expansion of the abdominal extremity of the uterine tube MP:0009467 abnormal magnocellular neurosecretory cell morphology any structural anomaly of the cells residing mainly in the hypothalamic supraoptic and paraventricular nuclei and in a number of smaller accessory cell groups between these two nuclei, and secrete the hormones oxytocin and vasopressin MP:0009468 absent magnocellular neurosecretory cells absence of the cells residing mainly in the hypothalamic supraoptic and paraventricular nuclei and in a number of smaller accessory cell groups between these two nuclei, and secrete the hormones oxytocin and vasopressin MP:0009469 increased skin hamartoma incidence greater than the expected number of a benign formation of a mass of tissue of disproportionate size and distribution in the skin, but composed of an overgrowth of mature cells and tissues that normally occur in this tissue, occurring in a specific population in a given time period MP:0009470 mirror image duplication during embryogenesis a second structure develops with its parts arranged in a reversal of right and left orientation MP:0009471 abnormal urine sulfate level any change in the amount of sulfate in the urine MP:0009472 increased urine sulfate level an increase in amount of sulfates in the urine MP:0009473 abnormal skin exfoliation anomaly in the process of detachment and shedding of superficial cells of a skin epithelium MP:0009474 thick epidermis stratum spinosum increased thickness of the stratum spinosum; the polyhedral cell layer MP:0009475 abnormal nicotine-mediated receptor currents change in the measured amplitude, current density or duration of response to stimulation of nicotinic receptors MP:0009476 enlarged cecum increased size of the large sac at the ileum and large intestine junction MP:0009477 small cecum reduced size of the large sac at the ileum and large intestine junction MP:0009478 coiled cecum corkscrew or worm-like appearance of the large sac at the ileum and large intestine junction MP:0009479 abnormal cecum development malformation or aberrant differentiation of the large sac at the ileum and large intestine junction MP:0009480 distended cecum an expansion in the volume of the large sac at the ileum and large intestine junction, as by stretching or distention MP:0009481 cecum inflammation local accumulation of fluid, plasma proteins, and leukocytes in the cecum MP:0009482 ileum inflammation local accumulation of fluid, plasma proteins, and leukocytes in the ileum MP:0009483 enlarged ileum increased size of the portion of the small intestine that extends from the jejunum to the colon MP:0009484 ileum hypertrophy an increase in the bulk size of the portion of the small intestine that extends from the jejunum to the colon due to cell enlargement MP:0009485 distended ileum an expansion in the volume of the portion of the small intestine that extends from the jejunum to the colon, as by stretching or distention MP:0009486 rectovaginal fusion fusion of the rectum and vaginal canals MP:0009487 rectourethral fusion fusion of the rectum and urethral canals MP:0009488 abnormal pancreatic islet cell apoptosis change in the timing or the number of pancreatic islet cells undergoing programmed cell death MP:0009489 abnormal blood vessel endothelium morphology any structural anomaly of the thin layer of flat cells that line the blood vessels and form a barrier between circulating blood in the lumen and the rest of the vessel wall MP:0009490 abnormal heart left atrium auricular region morphology any structural anomaly of the small conical pouch projections located on the upper anterior portion of the left atrium of the heart MP:0009491 abnormal heart right atrium auricular region morphology any structural anomaly of the small conical pouch projections located on the upper anterior portion of the right atrium of the heart MP:0009492 abnormal gallbladder epithelium morphology any structural anomaly of the simple columnar epithelial lining of the gall bladder MP:0009493 abnormal cystic duct morphology any structural anomaly of the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct MP:0009494 abnormal biliary ductule morphology any structural anomaly of the excretory ducts of the liver that connect the interlobular ductules to the right or left hepatic duct MP:0009495 abnormal common bile duct morphology any structural anomaly of the part of the biliary tree formed by the union of the cystic duct and the common hepatic duct MP:0009496 abnormal common hepatic duct morphology any structural anomaly of the part of the biliary tree formed by the union of the right and left hepatic ducts, and joins the cystic duct to form the common bile duct MP:0009497 abnormal intrahepatic bile duct morphology any structural anomaly of the passages within the liver for the conveyance of bile MP:0009498 abnormal extrahepatic bile duct morphology any structural anomaly of the passages external to the liver for the conveyance of bile MP:0009499 abnormal intralobular bile duct morphology any structural anomaly of the tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule MP:0009500 abnormal interlobular bile duct morphology any structural anomaly of the canals that carry bile in the liver between the intralobular ducts and the biliary ductules; interlobular bile ducts are part of the interlobular portal triad MP:0009501 abnormal hepatic duct morphology any structural anomaly of the two canals (left and right) that collect and drain bile from the left and right half of the liver from the biliary ductules and join external to the liver to form the common hepatic duct MP:0009502 abnormal areola morphology any structural anomaly of the circular pigmented region of the breast that surrounds the nipple and delineates the area containing the areolar glands MP:0009503 abnormal mammary gland duct morphology any structural anomaly of the canals that lead from the lobes of the mammary gland to the tip of the nipple and are responsible for carrying milk toward the nipple in a lactating female MP:0009504 abnormal mammary gland epithelium morphology any structural anomaly of the mammary gland epithelium which is normally enveloped by a basement membrane, embedded into fatty connective tissue stroma, and organized as a bilayer, with an inner luminal layer of secretory epithelial cells, and an outer basal layer; each cell layer expresses specific molecular markers; luminal epithelial cells are characterized by the expression of the receptors for systemic hormones, i.e. estrogens, progesterone and prolactin, whereas basal cells (aka myoepithelial cells) express smooth muscle contractile proteins; in functionally differentiated mammary gland, during lactation, luminal cells produce milk, whereas myoepithelial cells are contractile and serve for milk expulsion MP:0009505 abnormal mammary gland lobule morphology any structural anomaly of a group of alveoli and the intralobular portion of the terminal duct of the mammary gland MP:0009506 abnormal mammary gland alveolus morphology any structural anomaly of the sac-like structure of the mammary gland that secretes milk after pregnancy MP:0009507 abnormal mammary gland connective tissue morphology any structural anomaly of the fibrous supportive tissue of the mammary gland MP:0009508 increased mammary gland ductal carcinoma incidence higher than normal incidence of malignant tumors of the ducts of the mammary gland MP:0009509 absent rectum absence or loss of the terminal portion of the intestinal tube adjacent to the anus MP:0009510 cecal atresia congenital blockage or absence of the lumen of the cecum MP:0009511 distended stomach an expansion in the volume of the sac-like structure of the digestive canal between the esophagus and the small intestine, as by stretching or distention MP:0009512 abnormal cerebellar Golgi cell morphology any structural anomaly of the population of large inhibitory GABAergic interneurons found in the cerebellar internal granule layer which act by altering the mossy fibre - granule cell synapse; the main synapse made by these cells is a synapse onto the mossy fibre - granule cell excitatory synapse in a glomerulus, which is composed of the mossy fibre terminal, granule cell dendrites, and golgi terminal and is enclosed by a glial coat MP:0009514 titubation posture distinguished by a faltering gait while walking and/or a swaying motion of the trunk or head while resting; often is a characteristic of cellebellar disease MP:0009515 increased gastrointestinal stromal tumor incidence higher than normal incidence of non-epithelial, mesenchymal tumors of the gastrointestinal tract, thought to originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract; approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum; GISTs are tumors of connective tissue, i.e. sarcomas, account for 1-3% of all gastrointestinal malignancies in human, and are typically more cellular than other gastrointestinal sarcomas MP:0009516 enlarged salivary gland increased size of the saliva-secreting glands of the oral cavity MP:0009517 abnormal salivary gland duct morphology any structural anomaly of the tubular canals that carry saliva MP:0009518 abnormal anterior lingual gland morphology any structural anomaly of the small glands located near the apex of the tongue on either side of the frenulum MP:0009519 abnormal anterior buccal gland morphology any structural anomaly of the racemose, mucous or serous glands in the submucous tissue of the cheeks MP:0009520 decreased submandibular gland size reduced size of either of the large major salivary glands situated beneath the mandible MP:0009521 increased submandibular gland size increased size of either of the large major salivary glands situated beneath the mandible MP:0009522 submandibular gland hypoplasia decrease in the number of normal cells in normal arrangement in the submandibular gland, typically resulting in decreased size MP:0009523 submandibular gland hyperplasia increase in the number of normal cells in normal arrangement in the submandibular gland, typically resulting in increased size MP:0009524 absent submandibular gland absence of either of the large major salivary glands situated beneath the mandible MP:0009525 abnormal submandibular duct morphology any structural anomaly of the duct of the submadibular gland that opens at the sublingual papilla near the frenulum of the tongue MP:0009526 absent sublingual gland absence of the small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland MP:0009527 abnormal sublingual duct morphology any structural anomaly of the canals that drain the sublingual gland MP:0009528 abnormal major sublingual duct morphology any structural anomaly of the duct that drains the anterior portion of the sublingual gland and opens at the sublingual papilla MP:0009529 abnormal minor sublingual duct morphology any structural anomaly of the 8-20 small ducts that open into the mouth on the surface of the sublingual fold MP:0009530 abnormal parotid main excretory duct morphology any structural anomaly of the main excretory tubular canal that connects the parotid gland and the buccal mucosa and secretes a serous saliva into the vestibule of the oral cavity; it arises from the anterior surface of the gland, traversing the masseter muscle; the duct then pierces the buccinator muscle, moving medially, and opens out into the oral cavity near the second upper molar; saliva produced by acinar secretory cells in the glandular body flows sequentially through the intercalated ducts, striated ducts, and excretory ducts MP:0009531 increased parotid gland size increased size of either of the largest of the major salivary glands situated below and in front of each ear MP:0009532 decreased parotid gland size reduced size of either of the largest of the major salivary glands situated below and in front of each ear MP:0009533 absent palatine gland absence of the salivary gland of the hard palate MP:0009534 absent anterior lingual gland absence of the small glands located near the apex of the tongue on either side of the frenulum MP:0009535 abnormal skin sebaceous gland morphology any structural anomaly of the holocrine glands of the dermis that secrete sebum into the hair follicles MP:0009536 abnormal interstitial cell of Cajal morphology any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which gastrointestinal stromal tumours (GISTs) arise; abnormalities in the ICC network can cause chronic intestinal pseudo-obstruction MP:0009537 interstitial cells of Cajal hyperplasia increased number of the pacemaker cells of the gastrointestinal tract which mediate inputs from the enteric nervous system to smooth muscle cells and trigger gut contraction MP:0009538 abnormal synapse morphology any structural anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means MP:0009539 abnormal Hassall's corpuscle morphology any structural anomaly of the small spherical bodies of epithelial cells found in the medulla of the thymus, that are arranged in a concentric pattern around clusters of degenerating lymphocytes, eosinophils and macrophages MP:0009540 absent Hassall's corpuscle absence of the small spherical bodies of epithelial cells found in the medulla of the thymus, that are arranged in a concentric pattern around clusters of degenerating lymphocytes, eosinophils and macrophages MP:0009541 increased thymocyte apoptosis increase in the number of immature T cells located in the thymus that are undergoing programmed cell death MP:0009542 decreased thymocyte apoptosis reduction in the number of immature T cells located in the thymus that are undergoing programmed cell death MP:0009543 abnormal thymus corticomedullary boundary morphology any structural anomaly of the dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, dendritic cells, variable numbers of perivascular B-lymphocytes and plasma cells; site of entry of bone marrow stem cells and exit of mature, functional T cells MP:0009544 abnormal thymus epithelium morphology any structural anomaly of the supporting framework of the thymus MP:0009545 abnormal dermis papillary layer morphology any structural anomaly of the more superficial, thin layer of the dermis that interdigitates with the epidermis MP:0009546 absent gastric milk in neonates failure of nursing offspring to ingest milk as indicated by stomach content MP:0009547 elliptocytosis hematologic disorder in which an abnormally large number of erythrocytes are elliptical rather than the typical biconcave, disc shape MP:0009548 abnormal platelet aggregation any functional anomaly in the adhesion of one platelet to one or more other platelets via adhesion molecules MP:0009549 decreased platelet aggregation decrease in the ability of one platelet to one or more other platelets via adhesion molecules MP:0009550 increased urinary bladder carcinoma incidence greater than the expected number of a malignant neoplasm of the urinary bladder, arising from epithelial cells, occurring in a specific population in a given time period MP:0009551 increased urinary bladder transitional cell carcinoma incidence greater than the expected number of a malignant neoplasm of the transitional epithelial layer of the urinary bladder, occurring in a specific population in a given time period MP:0009552 urinary bladder obstruction any impediment or blockage of the musculomembranous elastic bag serving as a storage place for urine MP:0009553 fused lips an anomaly of the fleshy margins of the mouth resulting in the upper and lower lips being joined together into one structure MP:0009554 abnormal hair follicle melanin granule shape the form of pigment polymers in the hair follicle differs compared to controls MP:0009555 abnormal hair follicle melanin granule distribution anomaly in the spatial arrangement of particles produced by melanocytes that confer color in the hair follicle MP:0009556 abnormal platelet ADP level anomaly in the amount of the major energy source adenosine diphosphate produced by dense bodies located in platelets MP:0009557 decreased platelet ADP level reduced concentration of the major energy source adenosine diphosphate produced by dense bodies located in platelets MP:0009558 increased platelet ADP level increased concentration of the major energy source adenosine diphosphate produced by dense bodies located in platelets MP:0009559 thymus cortex hyperplasia increase in the number of normal cells in normal arrangement in the thymus cortex, typically resulting in increased size MP:0009560 absent epidermis stratum granulosum absence of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis MP:0009561 superior cervical ganglion degeneration retrogressive pathological change or loss of the largest group of paravertebral ganglia of the sympathetic trunk which normally lies at the base of the skull and innervates the head and neck MP:0009562 abnormal odor adaptation altered ability or failure of the olfactory receptor neurons to adapt to ambient conditions by time-dependent modification in the sensitivity to a given odorant stimulus, as seen in the decline of the sensory response during prolonged odor stimulation; a major mechanism for the rapid calcium-calmodulin-mediated desensitization of the CNG channel MP:0009563 dyskeratosis premature keratinization in individual epithelial cells that have not reached the keratinizing surface layer; dyskeratotic cells generally become rounded and they may break away from adjacent cells and fall off MP:0009564 abnormal meiotic configurations uncharacteristic chromosome arrangement produced by anomalous chromosome pairing and chiasma formation from prophase to metaphase of meiosis I due to abnormal chromosome structure and necessary to produce functional gametes MP:0009565 multivalent meiotic configurations any association of more than two completely or partially homologous chromosomes whose homologous regions are held together by pairing and chiasma formation from prophase to metaphase of meiosis I MP:0009566 meiotic nondisjunction failure of homologous chromosomes to separate to the cell poles at anaphase MP:0009567 mitotic nondisjunction failure of sister-chromatids to separate to the cell poles at anaphase MP:0009568 abnormal red blood cell deformability a measure (DImax) related to cell surface area, of the changeability of the membrane of circulating oxygen transporting cells as a function of physiologically relevant osmolality at a constant applied shear stress MP:0009569 abnormal left lung morphology any structural anomaly of the organ of respiration located on the left side of the body MP:0009570 abnormal right lung morphology any structural anomaly of the part of the organ of respiration located on the right side of the body and consists of the caudal, cranial, middle and accessory lobes MP:0009571 abnormal right lung accessory lobe morphology any structural anomaly of the right lung lobe which lies against the diaphragm and has a considerable volume residing in the left hemi-thorax MP:0009572 abnormal right lung cranial lobe morphology any structural anomaly of the upper lobe of the right lung MP:0009573 abnormal right lung middle lobe morphology any structural anomaly of the medial lobe of the right lung MP:0009574 abnormal right lung caudal lobe morphology any structural anomaly of the lower lobe of the right lung MP:0009575 abnormal pubic symphysis morphology any structural anomaly of the firm fibrocartilaginous joint in the median plane between the two opposing surfaces of the pubic bones, which are united by an interpubic disc of fibrocartilage as well as the superior and arcuate pubic ligaments MP:0009576 oral atresia congenital blockage, fusion, or absence of the normal opening of the oral cavity MP:0009577 abnormal developmental vascular remodeling any anomaly in the process by which existing vessels are reorganized during development MP:0009578 otocephaly a structural anomaly of the head consisting of absence or malformation of the lower jaw and the ears united or closely approaching below the face MP:0009579 acephaly congenital absence of the head MP:0009580 increased keratinocyte apoptosis increase in the number of keratinocytes undergoing programmed cell death MP:0009581 decreased keratinocyte apoptosis reduction in the number of keratinocytes undergoing programmed cell death MP:0009582 abnormal keratinocyte proliferation anomaly in the ability of keratinocytes to undergo expansion by cell division MP:0009583 increased keratinocyte proliferation increase in the expansion rate of keratinocytes by cell division MP:0009584 decreased keratinocyte proliferation reduction in the expansion rate of keratinocytes by cell division MP:0009585 obsolete ectopic bone formation OBSOLETE. formation of bone at an abnormal site or in an atypical tissue, usually outside its normal location MP:0009586 increased platelet aggregation increase in the ability of one platelet to one or more other platelets via adhesion molecules MP:0009587 abnormal plasma membrane sphingolipid content altered amounts of the phospholipids found especially in, but not limited to, the cell membrane of nerve tissue that yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis MP:0009588 increased plasma membrane sphingolipid content abnormal accumulation of the phospolipids found especially in, but not limited to, the cell membrane of nerve tissue that yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis MP:0009589 sphingomyelinosis the abnormal accumulation of sphingomyelin in the plasma membrane of cells of the nervous tissue, liver and spleen, usually due to sphingomyelinase deficiency MP:0009590 increased gonad tumor incidence greater than the expected number of an abnormal rapidly proliferating cells in the testis or ovary, usually in the form of a distinct mass, occurring in a specific population in a given time period MP:0009591 increased liver adenocarcinoma incidence greater than the expected number of a malignant neoplasm of epithelial cells in the liver, occurring in a specific population in a given time period MP:0009592 increased Leydig cell tumor incidence greater than the expected number of rare testicular tumors of the male gonadal interstitium, occurring in a specific population in a given time period; Leydig cell tumors are frequently hormonally active, leading to feminizing or virilizing syndromes; Leydig cell tumors comprise 1-3% of all testicular neoplasms, can be pure or mixed with other sex cord-stromal or germ cell tumors, and are usually benign, although malignant variants also occur MP:0009593 absent chorion absence of the outermost extraembryonic membrane MP:0009594 abnormal corneocyte envelope morphology any structural anomaly of the electron-dense layer of highly transglutaminase cross-linked protein that is deposited on the inner surface of the plasma membrane of corneocytes in the outermost layers of the epidermis; a monomolecular layer of ceramides is covalently attached to the outer surface of the CE to form a hydrophobic lipid envelope that covers each corneocyte and provides continuity with the lipid matrix MP:0009595 enlarged corneocyte envelope increased size of the electron-dense layer of highly transglutaminase cross-linked protein that is deposited on the inner surface of the plasma membrane of corneocytes in the outermost layers of the epidermis MP:0009596 abnormal stratum corneum lipid matrix formation altered lipid composition or intercellular lipid matrix assembly in the stratum corneum, usually resulting in loss of epidermal barrier function; normally, the intercorneocyte lipid matrix consists of a complex lipid mixture of ceramides, cholesterol and long-chain saturated fatty acids that self-assembles into an ordered multilayer structure known as lipid lamellae MP:0009597 impaired stratum corneum desquamation dysregulated shedding of the outermost layer of corneocytes, affecting the integrity and thickness of the stratum corneum; may result in xerotic and ichthyotic conditions MP:0009598 thin epidermis stratum granulosum decreased thickness of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis MP:0009599 thick epidermis stratum granulosum increased thickness of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis MP:0009600 hypergranulosis increased thickness of the granular layer of the epidermis MP:0009601 epidermis stratum granulosum hyperplasia increase in the number of normal cells in normal arrangement in the epidermal stratum granulosum, typically resulting in increased size MP:0009602 abnormal keratohyalin granule morphology any structural anomaly of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function MP:0009603 absent keratohyalin granules absence of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function MP:0009604 increased keratohyalin granule number increased number of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function MP:0009605 decreased keratohyalin granule number reduced number of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function MP:0009606 increased keratohyalin granule size increased size of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function MP:0009607 decreased keratohyalin granule size reduced size of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function MP:0009608 abnormal epidermal lamellar body morphology any structural anomaly of a membrane-bounded organelle present in the epidermis, specialized for the storage and secretion of various substances (such as glycoproteins and acid phosphates), and which are arranged in the form of tightly packed, concentric, membrane sheets or lamellae MP:0009609 absent basioccipital bone absence of the basilar process of the occipital bone in the base of the cranium, frequently forming a direct part of the occipital in the adult, but usually distinct in the young MP:0009610 abnormal epidermis stratum lucidum morphology any structural anomaly of the layer of lightly staining corneocytes foud between the stratum granulosum and stratum corneum layers; found primarily in the thick epidermis of the palmar and plantar skin and is composed of three to five layers of dead, flattened keratinocytes MP:0009611 epidermis stratum spinosum hyperplasia increase in the number of normal cells in normal arrangement in the epidermis stratum spinosum, typically resulting in increased size MP:0009612 thick epidermis suprabasal layer increased thickness of the suprabasal layer of the epidermis MP:0009613 thin epidermis suprabasal layer decreased thickness of the suprabasal layer of the epidermis MP:0009614 absent epidermis stratum spinosum absence of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance MP:0009615 abnormal zinc homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of zinc that normally is a cofactor in many proteins MP:0009616 abnormal brain zinc level any anomaly in the amount of zinc present in mammalian brain tissue, where 5-15 percent of total zinc is concentrated in synaptic vesicles in a subset of glutamatergic neurons; histochemically reactive zinc is present in many regions of the central nervous system and is especially abundant in the hippocampus MP:0009617 decreased brain zinc level reduction in the amount of zinc present in the brain tissue MP:0009618 increased brain zinc level increase in the amount of zinc present in the brain tissue MP:0009619 abnormal optokinetic reflex any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement; normally, this reflex functions to stabilize a moving image on the retina MP:0009620 abnormal primary vitreous morphology any structural anomaly in the fibrovascular mesodermal tissue located between the optic cup and lens vesicle that normally regresses during the development of the vitreous body MP:0009621 primary vitreous hyperplasia increase in the number of normal cells in normal arrangement in the primary vitreous, typically resulting in increased size MP:0009622 absent inguinal lymph nodes absence of the lymph nodes normally located in the groin area MP:0009623 enlarged inguinal lymph nodes increased size of the lymph nodes located in the groin area MP:0009624 small inguinal lymph nodes reduced size of the lymph nodes located in the groin area MP:0009625 abnormal abdominal lymph node morphology any structural anomaly of the visceral glands that are located in the abdomen MP:0009626 abnormal celiac lymph node morphology any structural anomaly of the visceral glands that are associated with the branches of the celiac artery, including the gastric, hepatic, and pancreaticolienal (splenic) lymph nodes MP:0009627 abnormal submandibular lymph node morphology any structural anomaly of the lymph nodes located below the mandible in the submandibular triangle that collect lymph from the cheeks, the lateral aspects of the nose, upper lip, lateral parts of the lower lip, gums and the anterior tongue; they also receive lymph from the submental and facial lymph nodes MP:0009628 absent brachial lymph nodes absence of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes MP:0009629 small brachial lymph nodes reduced size of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes MP:0009630 absent axillary lymph nodes absence of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region MP:0009631 enlarged axillary lymph nodes increased size of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region MP:0009632 small axillary lymph nodes reduced size of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region MP:0009633 absent cervical lymph nodes absence of the lymph nodes normally found near the neck and shoulders MP:0009634 absent popliteal lymph nodes absence of the lymph nodes which drain the legs MP:0009635 enlarged popliteal lymph nodes increased size of the lymph nodes which drain the legs MP:0009636 small popliteal lymph nodes reduced size of the lymph nodes which drain the legs MP:0009637 abnormal pretectal region morphology any structural anomaly of a narrow, transversely oriented rostral zone of the mesencephalic tectum, bounded caudally by the superior colliculus, rostrally by the habenular trigone, and laterally by the pulvinar thalami; the pretectal area contains several nuclei that receive fibers from the optic tract; it has bilateral efferent connections with the Edinger-Westphal nucleus of the oculomotor nuclear complex by way of which it mediates the pupillary light reflex MP:0009638 abnormal pretectal nuclei morphology any structural anomaly of the groups of neurons located between the thalamus and midbrain that receive binocular sensory input from retinal ganglion cells of the eyes and are responsible for maintaining the pupillary light reflex MP:0009639 abnormal olivary pretectal nucleus morphology any structural anomaly of one of several pretectal nuclei with direct input from the eye and the only one containing neurons whose rate of firing is linearly related to the intensity of light falling on the retina MP:0009640 abnormal renal tubule epithelium morphology any structural anomaly of the cellular avascular layer of the renal tubule luminar surfaces MP:0009641 kidney degeneration a retrogressive impairment of function or destruction of either or both of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine MP:0009642 abnormal blood homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood MP:0009643 abnormal urine homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of the various chemical or protein components of the urine MP:0009644 uremia an excess of urea, creatinine, and other nitrogenous end products of protein and amino acid metabolism in the blood; usually indicative of kidney dysfunction MP:0009645 crystalluria excretion of crystalline material in the urine MP:0009646 urinary bladder inflammation local accumulation of fluid, plasma proteins, and leukocytes in the urinary bladder MP:0009647 decreased fertilization frequency the number of secondary oocytes each penetrated by a spermatozoon followed by fusion of the male and female pronuclei are fewer than expected MP:0009648 abnormal superovulation altered ability of a female to be induced to ovulate an expected number of ova after treatment with specific gonadotrophic hormones MP:0009649 delayed embryo implantation any lag in the normal time course necessary for the attachment of the blastocyst to the endometrium MP:0009650 dormant blastocysts blastocysts sometimes larger than normal in size, showing no development or mitotic activity as a result of delayed implantation MP:0009651 abnormal eyelid development aberrant formation of the skin folds covering the front of the eyeball MP:0009652 abnormal palatal rugae morphology any structural anomaly in the series of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species; rugae are present on each side of the median palatal raphe and behind the incisive papillae, but their number and arrangement are species specific; together with the teeth and the tongue, rugae take part in mastication by helping to sense, hold and mash the food; rugae harbor various types of intraepithelial sensory structures (such as Merckel cells, corpuscular endings and free nerve endings), and play a sensory role when the food is pressed by the tongue against the hard palate MP:0009653 abnormal palate development abnormal formation of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) MP:0009654 abnormal primary palate development any anomaly in the formation of the part of the shelf separating the oral and nasal cavities that is formed during early embryonic development from the medial nasal processes which derive from the frontonasal process; these merge with each other and with the bilateral maxillary processes to form the upper lip and the primary palate MP:0009655 abnormal secondary palate development any anomaly in the formation of the part of the palate that is formed during embryonic development when palatal projections from the inner part of the maxillary processes emerge, extend and elevate into a horizontal position above the tongue MP:0009656 delayed chorioallantoic fusion late onset of the initiation and/or completion of the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois MP:0009657 failure of chorioallantoic fusion failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois MP:0009658 increased placenta apoptosis increase in the number of cells of the placenta undergoing programmed cell death MP:0009659 striated fur hair or fur characterized by transverse, usually parallel, markings due to an anomaly in hair color, texture, or growth MP:0009660 abnormal induced retina neovascularization any anomaly in the response to conditions which induce the pathological growth of vessels into the retina MP:0009661 abnormal pregnancy any anomaly in the process of maintaining a developing embryo or fetus within the female body from conception to birth MP:0009662 abnormal uterine receptivity any alteration in the time sensitive process of uterine differentiation that occurs in response to implantation competent blastocysts and precedes and is necessary for embryo implantation MP:0009663 abnormal uterine-embryonic axis any anomaly in the process whereby the implantation chamber orients in the uterus in response to decidual growth to insure correct alignment of the embryo to the uterus MP:0009664 abnormal luminal closure an anomaly in the degree to which (for each species) the uterine epithelium closes over and makes contact with, and secures an implanting blastocyst MP:0009665 abnormal embryo apposition any anomaly that prevents the initial positioning of the blastocyst trophoblast and uterine luminal epithelium causing the blastocyst to fail to orientate correctly along the uterine wall MP:0009666 abnormal embryo attachment any anomaly in the process whereby the blastocyst anchors to the uterine luminal epithelium and cannot be dislodged by flushing MP:0009667 abnormal embryo invasion any anomaly in the process that enables the embryo to establish connection to the uterine luminal epithelium MP:0009668 ectopic pregnancy a fertilized egg attaches and begins development in a location other than in the inner lining of the uterus, most commonly in the Fallopian tube MP:0009669 abnormal postimplantation uterine environment failure of the uterus to undergo the changes necessary to support pregnancy following implantation of the embryo MP:0009670 abnormal uterine angiogenesis any anomaly in vascular permeability and blood vessel development that normally occurs in the uterus to support embryonic growth during pregnancy MP:0009671 abnormal uterus physiology any functional anomaly of the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth MP:0009672 abnormal birth weight anomaly in average weight at birth compared to controls MP:0009673 increased birth weight increase in average weight at birth compared to controls MP:0009674 decreased birth weight reduction in average weight at birth compared to controls MP:0009675 orthokeratosis thickening of the stratum corneum of the epidermis (hyperkeratosis) with non-nucleated keratinocytes retained in this layer MP:0009676 abnormal hemostasis any anomaly in the spontaneous arrest of bleeding from vessels carrying blood under pressure or the arrest of circulation to an organ or part MP:0009677 abnormal spinal cord dorsal column morphology any structural anomaly of the wedge-shaped fiber bundle of white matter in the dorsomedial side of the spinal cord that is made up of the fasciculus gracilis and fasciculus cuneatus; it is part of the ascending posterior column-medial lemniscus pathway that is important for well-localized fine touch and conscious proprioception MP:0009678 abnormal spinal cord lateral column morphology any structural anomaly of the region of white matter of the spinal cord that is located between the dorsal and ventral spinal roots MP:0009679 abnormal spinal cord ventral column morphology any structural anomaly of the area of white matter of the spinal cord located on either side of the ventral (anterior) medial fissure MP:0009680 abnormal medulla oblongata anterior median fissure morphology any structural anomaly of the longitudinal groove in the midline of the anterior aspect of the medulla oblongata MP:0009681 abnormal pyramidal decussation morphology any structural anomaly of the bundles of pyramidal fibers that intercross obliquely over the midline at the lower border region of the medulla oblongata MP:0009682 abnormal anterior corticospinal tract morphology any structural anomaly of the small bundle of corticospinal motor fibers that do not cross the midline at the pyramidal decussation and descend into the anterior funiculus of the spinal cord; the anterior corticospinal tract controls central axial and girdle muscles MP:0009683 abnormal lateral corticospinal tract morphology any structural anomaly of the large bundle of corticospinal motor fibers that cross the midline at the pyramidal decussation and descend in the dorsal half of the lateral funiculus; the lateral corticospinal tract controls movement of contralateral limbs MP:0009684 abnormal spinal cord lateral motor column morphology any structural anomaly of the subclasses of motor neurons which innervate muscles in the limb; motor neurons in the lateral motor column are further organized into pools, each of which innervates a specific muscle in the limb MP:0009685 abnormal spinal cord motor column morphology any structural anomaly of the subclasses of motor neurons which are organized into longitudinally oriented columns that occupy distinct and, in some cases, discontinuous domains along the rostrocaudal axis of the spinal cord; motor neurons within a single column send their axons to a common peripheral target MP:0009686 abnormal spinal cord medial motor column morphology any structural anomaly of the subclasses of motor neurons which project their axons to axial muscles that lie close to the vertebral column; motor neurons in the lateral subdivision of the MMC project their axons to body wall muscles MP:0009687 empty decidua capsularis the implanted embryo normally covered opposite the placenta by uterine mucosa and epithelium following implantation is missing, suggesting the embryo died early during implantation but after the decidual response and modification of uterine stromal cells MP:0009688 abnormal spinal cord central canal morphology any structural anomaly of the ependyma-lined lumen of the spinal cord that is filled with cerebrospinal fluid; it is patent with the ventricular system of the brain and frequently becomes occluded in aging adults MP:0009689 abnormal neural tube ventricular layer morphology any structural anomaly of the layer of undifferentiated, proliferating cells that line the neural tube lumen MP:0009690 abnormal neural tube mantle layer morphology any structural anomaly of the layer of glia and differentiating neurons that will form the gray matter of the spinal cord; this lies between the ventricular and marginal layers and includes the basal and alar plates MP:0009691 abnormal neural tube marginal layer morphology any structural anomaly of the outermost layer of the neural tube that contains nerve fibers and will form the white matter MP:0009692 abnormal spinal cord alar plate morphology any structural anomaly of the region of the mantle layer of the neural tube that lies dorsal to the sulcus limitans and contains primarily sensory neurons and interneurons involved in communication of sensory impulses; the alar plate develops into the dorsal horn in the grey matter of the spinal cord MP:0009693 abnormal spinal cord basal plate morphology any structural anomaly of the region of the mantle layer of the neural tube that lies ventral to the sulcus limitans and contains primarily motor neurons and interneurons MP:0009694 abnormal spinal cord commissure morphology any structural anomaly of any of the nerve fiber tracts that span the midline of the spinal cord MP:0009695 abnormal spinal cord ventral commissure morphology any structural anomaly of the band of nerve fibers which cross the midline of the spinal cord ventral to the central canal and posterior grey commissure MP:0009696 abnormal spinal cord grey commissure morphology any structural anomaly of the band of grey substance spanning the midline of the spinal cord that surrounds the central canal MP:0009697 abnormal copulation an anomaly in sexual union that normally enables the transfer of ejaculate (sperm) from male to female, sometimes resulting in the fertilization of an egg MP:0009698 heart hemorrhage bleeding into the heart MP:0009699 hyperchylomicronemia increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins MP:0009701 abnormal birth body size anomaly in average body size at birth compared to controls MP:0009702 increased birth body size increase in average body size at birth compared to controls MP:0009703 decreased birth body size reduction in average body size at birth compared to controls MP:0009704 increased skin squamous cell carcinoma incidence greater than the expected number of a skin carcinoma derived from stratified squamous epithelium, occurring in a specific population in a given time period MP:0009705 abnormal midgut morphology any structural anomaly of the portion of the embryonic gut between the foregut and the hindgut, which originally is open to the yolk sac MP:0009706 absent midgut absence of the portion of the embryonic gut between the foregut and the hindgut MP:0009707 absent external auditory canal absence of the canal that connects the outer and middle ear MP:0009708 vaginal septum a longitudinal or transverse congenital partition within the muscular canal extending from outside of the body to the cervix; usually caused by incomplete fusion of the Mullerian ducts in embryogenesis MP:0009709 hydrometra an accumulation in the uterine lumen of normal secretions that ordinarily drain from the body but are retained when the cervix or vagina is significantly or completely closed MP:0009710 anhedonia inability to experience pleasure in response to normally pleasurable stimuli MP:0009711 abnormal conditioned place preference behavior anomaly in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment MP:0009712 impaired conditioned place preference behavior decrease in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment MP:0009713 enhanced conditioned place preference behavior increase in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment MP:0009714 thin epidermis stratum basale reduced thickness of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells MP:0009715 thick epidermis stratum basale increased thickness of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells MP:0009716 abnormal subcommissural organ morphology any structural anomaly of the circumventricular organ derived from ependymal cells that is located at the junction of the third ventricle and the cerebral aqueduct and which secretes somatostatin MP:0009717 absent subcommissural organ absence of the circumventricular organ derived from ependymal cells that is located at the junction of the third ventricle and the cerebral aqueduct and which secretes somatostatin MP:0009718 absent Purkinje cell layer there is no evidence of the cell layer that lies just underneath the molecular layer of the cerebellar cortex, normally containing the neuronal cell bodies of the Purkinje cells arranged side by side in a single layer, and candelabrum interneurons vertically oriented between the Purkinje cells MP:0009719 reduced cerebellar foliation the cerebellar lobules are reduced in size or number MP:0009720 abnormal mammary gland pattern aberration in the spacing and arrangement of mammary glands that differentiate during early embryogenesis as it relates to the norm for the species MP:0009721 increased mammary gland number greater than the expected number of the specialized accessory gland of the skin of mammals that secretes milk MP:0009722 abnormal nipple development an anomaly in the differentiation of the apex of the mammary gland on the integument surface into which the lactiferous ducts open MP:0009723 increased nipple number greater than the expected number of structures located on the apex of the mammary gland on the integument surface into which the lactiferous ducts open; normal female mice have five pairs of mammary glands and nipples (males have no nipples); two pairs of nipples are situated in the abdomino-inguinal region (inguinal group) and three pairs in the ventral thoracic region (pectoral or thoracic group) MP:0009724 ectopic nipples abnormal location of structures normally located on the apex of the mammary gland on the integument surface into which the lactiferous ducts open MP:0009725 absent lens vesicle absence of the ectodermal invagination that forms opposite the optic cup in the primordium of the lens of the eye MP:0009726 abnormal primordial meninx morphology any structural anomaly of the outermost mesenchymal covering of the developing brain and spinal cord that is composed of tough fibrous connective tissue from which the arachnoid mater, pia mater and dura mater are formed MP:0009727 abnormal navicular morphology any structural anomaly of the oval-shaped tarsal bone found between the talus and the 3 cuneiform bones MP:0009728 abnormal calcaneum morphology any structural anomaly of the largest quadrangular bone at the back of the tarsus; it forms the heel or hock and articulates with the talus above it MP:0009729 absent tarsus bones absence of the eight bones of the instep of the paw/foot: tibiale, talus, calcaneus, navicular, 3 cuneiform, and cuboid bones MP:0009731 abnormal offspring retrieval any anomaly in the ability of a female to collect stray offspring and return them to a defined location, such as a nest or den MP:0009732 ventricular premature beat a heartbeat is initiated by abnormal electrical activation originating in the heart ventricles rather than by the sinoatrial node, the normal heartbeat initiator, before a normal heartbeat would occur MP:0009733 absent nipple absence of the erectile projection at the apex of the mammary gland where the lactiferous ducts open MP:0009734 abnormal prostate gland duct morphology any structural anomaly of the minute canals that pass the prostatic secretions to the urethra MP:0009735 abnormal prostate gland development anomaly in the formation or pattering of the of the prostate gland MP:0009736 abnormal prostate gland branching morphogenesis anomaly of the prostatic bud to repeatedly divide into lobules during development of the prostate gland MP:0009737 prostate gland cyst presence of one or more benign epithelial growths, often fluid-filled, within the gland in males that secretes part of the seminiferous fluid MP:0009738 enlarged prostate gland anterior lobe increased size of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles MP:0009739 enlarged prostate gland dorsolateral lobe increased size of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle MP:0009740 small prostate gland dorsolateral lobe reduced size of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle MP:0009741 ectopic mammary gland one or more of the expected number of mammary glands that differentiate during early embryogenesis is/ are not located according to the normal arrangement MP:0009742 increased cornea stroma thickness increased width of the lamellated connective tissue layer of the cornea MP:0009743 preaxial polydactyly duplication of all or part of the first ray on one or more of the autopods MP:0009744 postaxial polydactyly duplication of all or part of any of the rays except the first ray on one or more of the autopods MP:0009745 abnormal behavioral response to xenobiotic any anomaly in the behavioral response induced by a compound foreign to living organisms, such as consumption preference, induced hyperactivity or stereotypic behavior MP:0009746 enhanced behavioral response to xenobiotic increased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or reduced dosage threshold for the appearance of the behavioral response MP:0009747 impaired behavioral response to xenobiotic decreased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response MP:0009748 abnormal behavioral response to addictive substance any anomaly in the behavioral response induced by an addictive substance, such as induced hyperactivity or stereotypic behavior MP:0009749 enhanced behavioral response to addictive substance increased sensitivity to an addictive substance capable of inducing the appearance of behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response MP:0009750 impaired behavioral response to addictive substance decreased sensitivity to an addictive substance capable of inducing the appearance of behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response MP:0009751 enhanced behavioral response to alcohol increased sensitivity to alcohol resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response MP:0009752 enhanced behavioral response to nicotine increased sensitivity to nicotine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response MP:0009753 enhanced behavioral response to morphine increased sensitivity to morphine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response MP:0009754 enhanced behavioral response to cocaine increased sensitivity to cocaine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response MP:0009755 impaired behavioral response to alcohol decreased sensitivity to alcohol resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response MP:0009756 impaired behavioral response to nicotine decreased sensitivity to nicotine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response MP:0009757 impaired behavioral response to morphine decreased sensitivity to morphine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response MP:0009758 impaired behavioral response to cocaine decreased sensitivity to cocaine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response MP:0009759 abnormal hair follicle bulge morphology any structural anomaly in the area located in the bottom of the permanent portion of a resting (telogen) hair follicle where the cells of the external root sheath of the hair follicle are contiguous with the basal layer of the epidermis; this portion of the follicle is involved in the generation of a new hair at the onset of the hair growth cycle (anagen) and contains the hair follicle stem cells MP:0009760 abnormal mitotic spindle morphology any structural anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during mitosis MP:0009761 abnormal meiotic spindle morphology an anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during meiosis MP:0009762 abnormal mitotic spindle assembly checkpoint an anomaly in the process that normally prevents inaccurate segregation of chromosome by inhibiting cell-cycle progression in response to a signal generated by mitotic spindle damage or by chromosomes that have not attached to microtubules MP:0009763 increased susceptibility to induced morbidity/mortality decrease in the amount of an external agent required to cause death or diseased state MP:0009764 decreased susceptibility to induced morbidity/mortality increase in the amount of an external agent required to cause death or diseased state MP:0009765 abnormal xenobiotic induced morbidity/mortality any anomaly in induction of a diseased state or death caused by a compound foreign to living organisms MP:0009766 increased susceptibility to xenobiotic induced morbidity/mortality decrease in the amount of a compound foreign to living organisms required to cause death or diseased state MP:0009767 decreased susceptibility to xenobiotic induced morbidity/mortality increase in the amount of a compound foreign to living organisms required to cause death or diseased state MP:0009768 impaired somite development atypical process of somite formation with the result of fewer or none of these cell masses being formed MP:0009769 abnormal meiotic spindle assembly checkpoint an anomaly in the process that normally prevents inaccurate segregation of chromosomes by inhibiting cell-cycle progression in response to a signal generated by meiotic spindle damage or by chromosomes that have not attached to microtubules MP:0009770 abnormal optic chiasm morphology any structural anomaly in the flattened quadrangular body that is the point of crossing of the fibers of the optic nerves MP:0009771 absent optic chiasm absence of the flattened quadrangular body that is the point of crossing of the fibers of the optic nerves MP:0009772 abnormal retina development anomaly in any of the steps during embryogenesis that produce the nerve layer lining in the back of the eye which senses light, and creates impulses that travel through the optic nerve to the brain MP:0009773 absent retina absence of the nerve layer lining the back of the eye that senses light, and creates impulses that travel through the optic nerve to the brain MP:0009774 abnormal behavioral withdrawal response anomaly in the intensity, duration, or type of behaviors displayed after discontinuation of an addictive substance MP:0009775 increased behavioral withdrawal response increase in the intensity or duration of behaviors displayed after discontinuation of an addictive substance MP:0009776 decreased behavioral withdrawal response decrease in the intensity or duration of behaviors displayed after discontinuation of an addictive substance MP:0009777 abnormal behavioral response to anesthetic anomaly in the behavioral changes that follow exposure to an anesthetizing agent MP:0009778 impaired behavioral response to anesthetic decrease or delay in the behavioral changes that follow exposure to a given amount of an anesthetizing agent MP:0009779 enhanced behavioral response to anesthetic increase or exceleration in the behavioral changes that follow exposure to a given amount of an anesthetizing agent MP:0009780 abnormal chondrocyte physiology any functional anomaly of a polymorphic cell that forms cartilage MP:0009781 abnormal preimplantation embryo development an anomaly in the developmental progress of an embryo from 2 cell to blastocyst affecting the viability or number of embryos MP:0009782 abnormal basicranium angle a deviation from the expected angle formed by a line representing the floor of the anterior cranial fossa intersecting a line representing the axis of the clivus of the base of the skull MP:0009783 abnormal melanoblast morphology any structural anomaly of a cell that originates from the neural crest and differentiates into a pigment cell MP:0009784 abnormal melanoblast migration any anomaly in the movement of the cells that originate from the neural crest and differentiate into pigment cells MP:0009785 abnormal susceptibility to infection induced morbidity/mortality differences from the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens MP:0009786 decreased susceptibility to infection induced morbidity/mortality reduced likelihood that an organism will display the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens MP:0009787 increased susceptibility to infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens MP:0009788 increased susceptibility to bacterial infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria MP:0009789 decreased susceptibility to bacterial infection induced morbidity/mortality reduced likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria MP:0009790 decreased susceptibility to viral infection induced morbidity/mortality reduced likelihood that an organism will display the expected moribund state caused by a viral invasion or from components of or toxins produced by a virus MP:0009791 increased susceptibility to viral infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a viral invasion or from components of or toxins produced by a virus MP:0009792 seborrheic dermatitis an inflammatory skin condition that causes flaky, white to yellowish scales to form on oily areas such as the scalp or inside the ear, with or without reddened skin MP:0009793 sebaceous gland hypertrophy increase in the bulk size of the sebum secreting glands of the hair shaft due to cell enlargement MP:0009794 sebaceous gland hyperplasia increase in the number of normal cells in normal arrangement in the sebaceous glands, typically resulting in increased size MP:0009795 epidermal spongiosis intercellular edema within the epidermis MP:0009796 abnormal base-excision repair any anomaly in the process whereby an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate; the small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase MP:0009797 abnormal mismatch repair any functional anomaly in the system that promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination MP:0009798 abnormal ophthalmic nerve morphology any structural anomaly of the sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the orbit and its contents, the nasal cavity and the skin of the nose and forehead MP:0009799 abnormal maxillary nerve morphology any structural anomaly of the sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the palate, upper teeth and gingiva, the skin between the palpebral fissure and the mouth, and from the nasal cavity and maxillary sinuses MP:0009800 abnormal mandibular nerve morphology any structural anomaly of the motor and sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the auricle, the external acoustic meatus, tympanic membrane, temporal region, the cheek, the skin overlying the mandible, the anterior portion of the tongue, the floor of the mouth, lower teeth and gingiva and transmits motor information from the muscles of mastication, the mylohyoid muscle and digastric muscle and the muscles tensor tympani and tensor veli palatini MP:0009801 abnormal hair cortex keratinization any defect in the formation of the fibrous elements found in the hair cortex comprising acidic (Type I ) and basic (Type II) proteins that give hair such aspects as resilience, and elasticity MP:0009802 abnormal median aperture morphology any structural anomaly in the large midline opening of the posterior inferior part of the roof of the fourth ventricle that connects the fourth ventricle to the posterior cerebromedullary cistern and the spinal cord MP:0009803 abnormal lateral aperture morphology any structural anomaly of the two lateral openings of the fourth ventricle into the subarachnoid space at the cerebellopontine angle MP:0009804 abnormal brain interventricular foramen morphology any structural anomaly of the paired channels that connect the lateral and third ventricles and allows cerebrospinal fluid produced in the lateral ventricles to flow into the third ventricle MP:0009805 absent median aperture absence of the large midline opening of the posterior inferior part of the roof of the fourth ventricle that connects the fourth ventricle to the posterior cerebromedullary cistern and the spinal cord MP:0009806 abnormal otic vesicle morphology any structural anomaly of the paired sacs of invaginated ectoderm that develop into the membraneous labyrinth of the inner ear MP:0009807 abnormal pelvic ligament morphology any structural anomaly of the dorsal sacroiliac, the sacrotuberal and/or the iliolumbar ligaments associated with the bony ring formed by the pair of hip bones fused at the symphysis and their firm articulation with the sacrum MP:0009808 decreased oligodendrocyte number reduced number of cells of the central nervous system that form the insulating myelin sheath of axons in the CNS MP:0009809 abnormal urine uric acid level anomaly in the amount in the urine of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine MP:0009810 increased urine uric acid level greater amount in the urine of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine MP:0009811 abnormal prostaglandin level anomaly in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation MP:0009812 abnormal bradykinin level abnormal concentration of a potent, short-lived vasoactive peptide that causes arteriolar dilation and increased capillary permeability MP:0009813 abnormal leukotriene level abnormal concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells MP:0009814 increased prostaglandin level increase in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation MP:0009815 decreased prostaglandin level reduction in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation MP:0009816 increased leukotriene level increased concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells MP:0009817 decreased leukotriene level reduced concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells MP:0009818 abnormal thromboxane level anomalous concentration in the body of any of several compounds, originally derived from prostaglandin precursors in platelets, that stimulate aggregation of platelets and constriction of blood vessels MP:0009819 abnormal circulating androgen level anomaly in the blood concentration of any of the steroid hormones that control development and maintenance of masculine characteristics MP:0009820 abnormal liver vasculature morphology any structural anomaly of the blood vessel network of the bile-secreting exocrine gland MP:0009821 abnormal vestibular aqueduct morphology any structural anomaly in the small bony canal that surrounds the endolymphatic duct canal and links the vestibule of the inner ear to the posterior part of the internal surface of the petrous temporal bone MP:0009822 abnormal subarcuate fossa morphology any structural anomaly of the irregular depression found on the posterior inner surface of the petrous portion of the temporal bone just below its crest and above and lateral to the internal acoustic meatus MP:0009823 abnormal sphingomyelin level deviation in the expected amount of any of a group of phospholipids that are found especially in, but not restricted to, nerve tissue and yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis MP:0009824 spermatic granuloma a granulomatous nodular lesion that appears in the region of epididymis and can be large enough to totally occlude the epididymal lumen; sperm granulomas are rounded or irregular in shape, and contain dense aggregates of immune cells and degenerating sperm resulting from an autoimmune response against sperm-associated antigens exposed following biochemical or surgical insult (e.g. vasectomy) to the epididymal epithelium MP:0009825 cornea ulcer an area of tissue erosion in the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure MP:0009826 abnormal dermis reticular layer collagen network an anomaly in the amount or arrangement of the criss-crossing collagen fibers that form a strong elastic network normally arranged in parallel to the surface of the skin MP:0009827 skin detachment loss of sections of skin either spontaneously or after gentle handling MP:0009828 increased tumor latency later onset of tumor occurrence than expected MP:0009829 enlarged eye anterior chamber increased size of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens MP:0009830 abnormal sperm connecting piece morphology any structural anomaly in the segment of the sperm flagellum that attaches to the implantation fossa of the nucleus in the sperm head; from the remnant of the centriole at this point, the axoneme extends throughout the length of the flagellum MP:0009831 abnormal sperm midpiece morphology any structural anomaly of the highly organized segment of the sperm flagellum which begins at the connecting piece and is characterized by the presence of 9 outer dense fibers (ODFs) that lie outside each of the 9 outer axonemal microtubule doublets and by a sheath of mitochondria that encloses the ODFs and the axoneme; the midpiece terminates about one-fourth of the way down the sperm flagellum at the annulus, which marks the beginning of the principal piece MP:0009832 abnormal sperm mitochondrial sheath morphology any structural anomaly or impairment of the tightly packed helical sheath of ATP-producing mitochondria restricted to the midpiece of the sperm flagellum MP:0009833 absent sperm mitochondrial sheath absence of the tightly packed helical sheath of ATP-producing mitochondria, normally found in the midpiece of the sperm flagellum MP:0009834 abnormal sperm annulus morphology any structural anomaly of the ring-like, filamentous structure located at the distal end of the midpiece of the sperm flagellum; the annulus is thought to form a diffusion barrier between the midpiece and the principal piece and serve as a stabilizing structure for tail rigidity MP:0009835 absent sperm annulus absence of the ring-like, filamentous structure located at the midpiece-principal piece junction of the sperm flagellum, usually associated with a bent tail morphology MP:0009836 abnormal sperm principal piece morphology any structural anomaly in the segment of the sperm flagellum where the mitochondrial sheath ends and the outer dense fibers (ODFs) associated with outer axonemal doublets 3 and 8 are replaced by the 2 longitudinal columns of the fibrous sheath (FS) which run the length of the principal piece and are stabilized by circumferential ribs; the principal piece makes up ~2/3 of the length of the sperm flagellum and is defined by the presence of the FS and of only 7 (rather than 9) ODFs which taper and then terminate near the distal end of the principal piece MP:0009837 abnormal sperm end piece morphology any structural anomaly of the short tip of the sperm flagellum, adjacent to the sperm principal piece and furthest from the sperm head, which contains only the axoneme surrounded by the plasma membrane MP:0009838 abnormal sperm axoneme morphology any structural anomaly of the central core of the sperm flagellum, composed of a ring of 9 outer microtubule doublets surrounding a central pair; inner and outer dynein arms project from each of the outer 9 doublets, and these arms are responsible for generating the motive force of the flagellum; in addition, 9 radial spokes, each of which originates from 1 of the 9 outer microtubular doublet pairs, project inward toward the central pair in a helical fashion MP:0009839 multiflagellated sperm presence of more than one sperm flagellum, displaying either one common origin from the sperm head or multiple origins from the same sperm head MP:0009840 abnormal foam cell morphology any structural anomaly of a cell with a vacuolated appearance due to abnormal deposition and retention of lipoproteins, and typically seen in atherolosclerotic lesions, as well as other conditions, and derived from or related to the group of cells having the ability to take up and sequester inert particles and vital dyes, including macrophages and macrophage precursors, specialized endothelial cells lining the sinusoids of the liver, spleen, and bone marrow, and macrophages of lymphatic tissue and fibroblasts of bone marrow MP:0009841 foam cell reticulosis an increase in cells with a vacuolated appearance due to abnormal deposition and retention of lipoproteins and derived from or related to the group of cells having the ability to take up and sequester inert particles and vital dyes, including macrophages and macrophage precursors, specialized endothelial cells lining the sinusoids of the liver, spleen, and bone marrow, and macrophages of lymphatic tissue and fibroblasts of bone marrow MP:0009842 abnormal neural crest cell proliferation any anomaly in the ability of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult, to undergo rapid expansion by cell division MP:0009843 decreased neural crest cell number reduction in the number of ransient and migratory group of cells that emerge from the dorsal region of the neural tube and disperse to many peripheral locations to form various tissues of the adult MP:0009844 abnormal neural crest cell apoptosis change in the timing or the number of neural crest cells undergoing programmed cell death MP:0009845 abnormal neural crest cell morphology any structural anomaly of the transient and highly migratory group of cells that delaminate in early embryonic development from the dorsal neural tube and give rise to a variety of differentiated cell types, including (1) the neurons and glial cells of the sensory, sympathetic, and parasympathetic nervous systems, (2) the epinephrine-producing (medulla) cells of the adrenal gland, (3) the pigment-containing cells of the epidermis, and (4) many of the skeletal and connective tissue components of the head MP:0009846 abnormal neural crest morphology any structural anomaly of the specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types MP:0009847 abnormal scrotum pigmentation anomaly in the coloration of the scrotum due to changes in the amount, shape, or distribution of cells producing pigment MP:0009848 increased horizontal stereotypic behavior increase in the frequency of bursts of horizontal crossings (greater than one per second) in a time period MP:0009849 increased vertical stereotypic behavior increase in the frequency of bursts of vertical crossings (greater than one per second) in a time period MP:0009850 embryonic lethality between implantation and placentation death anytime between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9) MP:0009851 abnormal Sertoli cell phagocytosis altered ability of the Sertoli cells to endocytose and degrade the apoptotic spermatogenic cells and residual bodies (shed cytoplasts) during the maturation phase of spermiogenesis; normally, greater than 50 per cent of differentiating spermatogenic cells undergo apoptosis before maturing into spermatozoa, and these cells are selectively and rapidly eliminated through phagocytosis by Sertoli cells MP:0009852 increased Sertoli cell phagocytosis enhanced phagocytic activity of testicular Sertoli cells MP:0009853 decreased Sertoli cell phagocytosis decreased phagocytic activity of testicular Sertoli cells MP:0009854 impaired gastric peristalsis an increase in the time required for solids or liquids to leave the stomach and enter the intestines MP:0009855 obsolete midface retrusion OBSOLETE. the portion of the face comprising the nasal, maxillary, and zygomatic bones is shortened relative to the calvaria and located posterior to the normal position MP:0009856 failure of ejaculation inability to propulse semen from the genital ducts and the urethra to the exterior within a defined test period MP:0009857 absent kidney cortex absence of the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration MP:0009858 abnormal cellular extravasation any anomaly in the migration of leukocytes from the blood vessels into the surrounding tissue MP:0009859 eye opacity changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life MP:0009860 nephrosclerosis hardening of the kidney from overgrowth, infiltration by fibrous connective tissue, and contraction of the interstitial connective tissue; often a result of renovascular diseases or chronic hypertension MP:0009861 abnormal pyloric sphincter morphology any structural anomaly of the thick circular layer of gastric musculature encircling the gastroduodenal junction at the gastric outlet of the stomach MP:0009862 abnormal aorta elastic tissue morphology any structural anomaly of the dense connective tissue which contains predominantly elastic fibers and is found in the aorta wall MP:0009863 abnormal heart elastic tissue morphology any structural anomaly of the type of heart connective tissue found in the endocardial layer that consists mainly of elastic fibers MP:0009864 abnormal aorta endothelium morphology any structural anomaly of the thin layer of flat cells that line the aorta and form a barrier between circulating blood in the lumen and the rest of the vessel wall MP:0009865 abnormal aorta smooth muscle morphology any structural anomaly of the nonstriated, involuntary muscle tissue located in the wall of the aorta MP:0009866 abnormal aorta wall morphology any structural anomaly of the part of the aorta that encloses the luminal space MP:0009867 abnormal ascending aorta morphology any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise MP:0009868 abnormal descending thoracic aorta morphology any structural anomaly of the part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest MP:0009869 abnormal descending aorta morphology any structural anomaly of the part of the aorta extending from the arch of aorta to the point where it divides into the common iliac arteries MP:0009870 abnormal abdominal aorta morphology any structural anomaly of the part of the descending aorta that begins at the diaphragm and continues to the point of the common iliac arteries, and supplies oxygenated blood to all of the abdominal and pelvic organs and the legs MP:0009871 abnormal aorta tunica adventitia morphology any structural anomaly of the outermost layer of the aorta wall, containing connective tissue and collagen and elastic fibers MP:0009872 abnormal aorta tunica intima morphology any structural anomaly of the innermost layer of the aorta, containing the endothelium and an inner elastic membrane MP:0009873 abnormal aorta tunica media morphology any structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers MP:0009874 abnormal interdigital cell death change in the expected number of cells undergoing programmed cell death (apoptosis) in the autopod during development, precluding the sculpting of normal digits MP:0009875 absent interdigital cell death no cells undergo programmed cell death (apoptosis) in the autopod during development, precluding the sculpting of any digits MP:0009876 increased cellular sensitivity to thiophosphamide a greater frequency of chromosomal aberrations is found in cells after exposure to the alkylating agent thiophosphamide MP:0009877 exostosis a projection of bone, sometimes a benign tumor (osteochondroma), that is capped by cartilage and arises from a bone that develops from cartilage; these usually arise on the joints of bones and are most commonly found on ribs, and also the ankles, knees, shoulders, elbows and hips MP:0009878 decreased susceptibility to bone fracture reduced probability that injury or disease will result in damaged or broken bones MP:0009879 abnormal arcus anterior morphology any structural anomaly in the arch that connects the lateral masses of the atlas anteriorly and articulates with the anterior articular facet of the dens of the axis MP:0009880 decreased mouth size abnormally decreased size of the mouth MP:0009881 increased mouth size abnormally increased size of the mouth MP:0009882 absent palatal shelf absence of the palatal projections from the inner part of the maxillary processes that fuse to form the secondary palate MP:0009883 palatal shelf hypoplasia decrease in the number of normal cells in normal arrangement in the palatal projections from the inner part of the maxillary processes that fuse to form the secondary palate, typically resulting in decreased size MP:0009884 palatal shelf fusion with tongue or mandible palatal shelves do not elevate during development and instead fuse with tongue tissues or with the mandible tissues MP:0009885 abnormal palatal shelf elevation any anomaly in the process in which the palatal shelves move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue MP:0009886 failure of palatal shelf elevation the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue MP:0009887 abnormal palatal shelf fusion at midline any anomaly in the process in which the palatal shelves grow toward the midline and adhere along the medial edge epithelia, forming the midline epithelial seam which disappears in later stages MP:0009888 palatal shelves fail to meet at midline polarized growth towards the midline following palatal shelf elevation does not occur MP:0009889 persistence of medial edge epithelium during palatal shelf fusion palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam MP:0009890 cleft secondary palate congenital fissure of the tissues normally uniting to form the secondary palate MP:0009891 abnormal palate bone morphology any structural anomaly of the maxillary or palatine shelves that comprise the bones of the hard palate MP:0009892 palate bone hypoplasia decrease in the number of normal cells in normal arrangement in the palate bone, typically resulting in decreased size MP:0009893 cleft primary palate congenital fissure of the tissues normally uniting to form the primary palate; the primary palate will form the premaxillary portion of the maxilla (anterior one-third of the final palate) MP:0009894 absent hard palate absence of the anterior part of the palate that is supported by and includes the palatal extensions of the maxillary and palatine bones in the adult MP:0009895 decreased palatine bone horizontal plate size reduced size of the bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate MP:0009896 palatine bone horizontal plate hypoplasia decrease in the number of normal cells in normal arrangement in the palatine bone horizontal plate, typically resulting in decreased size MP:0009897 decreased maxillary shelf size reduced size of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate MP:0009898 maxillary shelf hypoplasia decrease in the number of normal cells in normal arrangement in the maxillary shelf, typically resulting in decreased size MP:0009899 hyoid bone hypoplasia decrease in the number of normal cells in normal arrangement in the hyoid bone, typically resulting in decreased size MP:0009900 vomer bone hypoplasia decrease in the number of normal cells in normal arrangement in the vomer bone, typically resulting in decreased size MP:0009901 abnormal frontonasal prominence morphology any structural anomaly of an unpaired facial process in the embryo formed from the tissues surrounding the forebrain vesicle that develops into the forehead and bridge of the nose/snout MP:0009902 abnormal lateral nasal prominence morphology any structural anomaly of the lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it MP:0009903 abnormal medial nasal prominence morphology any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it MP:0009904 tongue hypoplasia decrease in the number of normal cells in normal arrangement in the tongue, typically resulting in decreased size MP:0009905 absent tongue absence of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor MP:0009906 increased tongue size greater size the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor MP:0009907 decreased tongue size reduced size of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor MP:0009908 protruding tongue the tongue extends out beyond the oral cavity past the lips; may be due to paralysis, oral cavity size, tongue hypoplasia or dysfunction of the hypoglossal nerve MP:0009909 bifid tongue tongue is fully divided by a lengthwise midline cleft MP:0009910 bifurcated tongue tongue is split into two halves at the anterior tip; division does not extend the full length of the tongue; this is normal in some animals such as reptiles MP:0009911 increased hyoid bone size greater size of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles MP:0009912 decreased hyoid bone size reduced size of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles MP:0009913 abnormal hyoid bone greater horn morphology any structural anomaly of the larger and more lateral of the paired processes on either side of the hyoid bone MP:0009914 abnormal hyoid bone lesser horn morphology any structural anomaly of shorter and more medial of the paired processes on either side of the hyoid bone MP:0009915 absent hyoid bone lesser horns absence of shorter and more medial of the paired processes on either side of the hyoid bone MP:0009916 absent hyoid bone greater horns absence of the larger and more lateral of the paired processes on either side of the hyoid bone MP:0009917 abnormal hyoid bone body morphology any structural anomaly of the main curve of the hyoid bone, from which the horns extend MP:0009918 abnormal stylohyoid ligament morphology any structural anomaly of the fibrous cord that connects the tip of the styloid process of the temporal bone to the lesser horn of the hyoid bone MP:0009919 abnormal transitional stage T1 B cell morphology any structural anomaly of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative MP:0009920 abnormal transitional stage T2 B cell morphology any structural anomaly of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles MP:0009921 abnormal transitional stage T3 B cell morphology any structural anomaly of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive MP:0009922 increased transitional stage T1 B cell number greater number of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative MP:0009923 decreased transitional stage T1 B cell number reduced number of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative MP:0009924 absent transitional stage T1 B cells absence of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative MP:0009925 increased transitional stage T2 B cell number greater number of a type of a transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles MP:0009926 decreased transitional stage T2 B cell number reduced number of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles MP:0009927 absent transitional stage T2 B cells absence of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles MP:0009928 abnormal pinna hair pigmentation amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is decreased or increased in hair located behind the ears when compared to control animal pigmentation MP:0009929 meningomyelocele hernial protrusion of the spinal cord and its meninges through an opening or defect in the vertebral column MP:0009930 fuzzy hair covered with upright, fine, sometimes lightly curled hair MP:0009931 abnormal skin appearance anomaly in the visual aspect of the skin MP:0009932 skin fibrosis invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury MP:0009933 abnormal tail hair pigmentation an anomaly in the expected coloration of hair on the dorsal and/or ventral surface of the tail MP:0009934 abnormal hind foot hair pigmentation an anomaly in the expected color gradient of hair covering the metatarsals and phalanges often differentially expressed in females and males MP:0009935 abnormal Meibomian gland acinus morphology any structural anomaly of the sac-like structures comprising the sebaceous glands located at the rim of the eyelids and responsible for producing sebum MP:0009936 abnormal dendritic spine morphology any structural anomaly of the small membranous protrusion from the dendrite of a neuron that is involved in synaptic transmission; it typically receives input from a single synapse of an axon MP:0009937 abnormal neuron differentiation abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses MP:0009938 abnormal hippocampus granule cell morphology any structural anomaly of the small neurons of the hippocampal granule cell layer MP:0009939 abnormal hippocampus neuron morphology any structural anomaly of one or more neurons residing in the hippocampal region of the brain MP:0009940 abnormal hippocampus pyramidal cell morphology any structural anomaly of a multipolar projection neuron in the hippocampus pyramidal cell layer; pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base; the axons may have local collaterals but also project outside their cortical region MP:0009941 abnormal olfactory bulb interneuron morphology any structural anomaly of the group of neurons residing in the olfactory bulb that serve to process and refine signals arising from olfactory sensory neurons MP:0009942 abnormal olfactory bulb granule cell morphology any structural anomaly of the main intrinsic GABAergic neuron in the granule cell layer of the main olfactory bulb; dendrites of these cells receive synaptic input from mitral and tufted cell lateral dendrites in the external plexiform layer, and have synaptic outputs on those dendrites through reciprocal dendrodendritic synapses MP:0009943 abnormal olfactory bulb periglomerular cell morphology any structural anomaly of the small neuron in the glomerular layer of the olfactory bulb whose dendrites arborize within a glomerulus, where it receives synaptic input from olfactory receptor cell axon terminals, and also engages in dendrodendritic interactions with mitral and tufted cell dendrites; uses both GABA and dopamine as a neurotransmitter MP:0009944 abnormal olfactory lobe morphology any structural anomaly in the lobe in the anterior part of each cerebral hemisphere that is responsible for olfactory functions MP:0009945 abnormal accessory olfactory bulb morphology any structural anomaly of the forebrain region that coordinates sensory signaling arising from the vomeronasal organ; it is located on the dorsal-posterior portion of the main olfactory bulb, and the axons that leave the accessory olfactory bulb project to targets in the amygdala and hypothalamus MP:0009946 abnormal olfactory bulb layer morphology any structural anomaly of the laminar structure of the forebrain region that coordinates neuronal signaling involved in the perception of smell MP:0009947 abnormal olfactory bulb external plexiform layer morphology any structural anomaly of the part of the olfactory bulb, lying superior to the mitral cell layer and inferior to the glomerular layer, which is mostly neuropil composed almost entirely of mitral and tufted cell dendrites, granule cell dendrites and their synaptic inputs MP:0009948 abnormal olfactory bulb glomerular layer morphology any structural anomaly in the most superficial layer of the olfactory bulb that consists of mitral cell dendritic arborizations, olfactory nerve fibers, and periglomerular cells MP:0009949 abnormal olfactory bulb granule cell layer morphology any structural anomaly of the olfactory bulb layer consisting primarily of multiple small, round neurons that lack axons MP:0009950 abnormal olfactory bulb internal plexiform layer morphology any structural anomaly in the olfactory bulb layer in which axons from mitral cells and axon collaterals of external tufted cells run MP:0009951 abnormal olfactory bulb mitral cell layer morphology any structural anomaly in the olfactory bulb layer composed of pyramidal neurons and located between the granule cell and plexiform layers MP:0009952 abnormal olfactory bulb subventricular zone morphology any structural anomaly of the region of mitotically active layer of cells surrounding the lateral brain ventricles that consists of migrating neuroblasts, astrocytes and transitory amplifying progenitor cells, that produce neurons that migrate to the olfactory bulb MP:0009953 abnormal olfactory tubercle morphology any structural anomaly of the region in the ventral telencephalon, prominent in rodents, but present in all mammals, consisting of a laminated cortical part and the cap/hilus region; it is traditionally viewed as part of the olfactory cortex but recognized by some as having a striatal character; according to many authors, the structure of the OT transitions from cortical like to striatal like along the lateral medial axis MP:0009954 abnormal mitral cell morphology any structural anomaly of the large glutaminergic nerve cells whose dendrites synapse with axons of the olfactory receptor neurons in the glomerular layer of the olfactory bulb, and whose axons pass centrally in the olfactory tract to the olfactory cortex MP:0009955 abnormal olfactory bulb tufted cell morphology any structural anomaly of the principal glutaminergic neuron located in the outer third of the external plexiform layer of the olfactory bulb; a single short primary dendrite traverses the outer external plexiform layer and terminates within an olfactory glomerulus in a tuft of branches, where it receives the input from olfactory receptor neuron axon terminals; axons of the tufted cells transfer information to a number of areas in the brain, including the piriform cortex, entorhinal cortex, olfactory tubercle, and amygdala MP:0009956 abnormal cerebellar layer morphology any structural anomaly of the laminar structure of the cerebellar cortex comprising the gray matter of the cerebellum MP:0009957 abnormal cerebellum vermis lobule morphology any structural anomaly of the region of a cerebellar lobule that resides in the central section of the cerebellum between the two hemispheres; in humans, vermis lobule regions may be nearly continuous with the cerebellar hemisphere lobules dorsally but are separated by deeper longitudinal fissues in the ventral regions; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres MP:0009958 absent cerebellar granule cells absence of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites MP:0009959 abnormal cerebellar hemisphere morphology any structural anomaly of the paired regions of the cerebellum that lie outside and lateral to the central vermis MP:0009960 abnormal cerebellum anterior lobe morphology any structural anomaly of the region of the cerebellum that is anterior to the primary fissure MP:0009961 abnormal flocculonodular lobe morphology any structural anomaly of the small region of the cerebellum that is posterior to the posteriolateral fissure in humans; it receives input from the inferior and medial vestibular nuclei and sends fibers back to the vestibular nuclei, and processes and integrates these signals to allow for the constant maintenance of balance MP:0009962 abnormal cerebellum posterior lobe morphology any structural anomaly of the region of the cerebellum that is posterior to the primary fissure and anterior to the posteriolateral fissure MP:0009963 abnormal cerebellum hemisphere lobule morphology any structural anomaly of the region of a cerebellar lobule that resides in either of the lateral sections of the cerebellum outside the vermis; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres; distinct species specific differences in hemisphere lobulation occurs among mammals, with greatest complexity in primates MP:0009964 abnormal cerebellum lobule morphology any structural anomaly of the ten gyri of the cerebellar cortex MP:0009965 abnormal cerebellum lateral hemisphere morphology any structural anomaly of the most lateral paired regions of the cerebellum; the lateral zone receives input from the parietal cortex via pontocerebellar mossy fibers regarding the location and position of the body and integrates input signals with indications of muscle activity MP:0009966 abnormal cerebellum intermediate hemisphere morphology any structural anomaly of the paired regions of the cerebellar hemisphere that lie adjacent to the vermis and are between the vermis and lateral regions of the hemispheres; it receives input from the corticopontocerebellar fibers that originate from the motor cortex, and also receives sensory feedback from the muscles; these signals are integrated by this region, to coordinate muscle activity with motor inputs MP:0009967 abnormal neuron proliferation any anomaly in the ability of a neuron to undergo rapid expansion by cell division MP:0009968 abnormal cerebellar granule cell precursor proliferation any anomaly in the ability of a cerebellar granule cell precursor population to undergo rapid expansion by cell division MP:0009969 abnormal cerebral cortex pyramidal cell morphology any structural anomaly of the projection neurons in the pyramidal cell layer of the cerebral cortex MP:0009970 increased hippocampus pyramidal cell number increased number of the multipolar projection neurons in the hippocampus pyramidal cell layer MP:0009971 decreased hippocampus pyramidal cell number decreased number of the multipolar projection neurons in the hippocampus pyramidal cell layer MP:0009972 absent hippocampus pyramidal cells absence of the multipolar projection neurons in the hippocampus pyramidal cell layer MP:0009973 increased cerebral cortex pyramidal cell number increased number of the projection neurons in the pyramidal cell layer of the cerebral cortex MP:0009974 decreased cerebral cortex pyramidal cell number reduced number of the projection neurons in the pyramidal cell layer of the cerebral cortex MP:0009975 absent cerebral cortex pyramidal cells absence of the projection neurons in the pyramidal cell layer of the cerebral cortex MP:0009976 abnormal cerebellar peduncle morphology any structural anomaly of any of the three large paired bundles of nerve fibers that connect the cerebellum to the brain stem MP:0009977 abnormal cerebellar granule cell migration any anomaly in the movement of cerebellar granule cell neurons from the germinal zone into the granule cell layer of the cerebellum along radial glia fibers during development of the cerebellar cortex MP:0009978 abnormal cerebellum white matter morphology any structural anomaly in the region of the cerebellum consisting of myelinated axons lying deep to the granule cell layer, excluding the deep cerebellar nuclei and the cerebellar peduncles MP:0009979 abnormal cerebellum deep nucleus morphology any structural anomaly of the gray matter nuclei located in the center of the cerebellum, embedded in the white matter, which receive inhibitory (GABAergic) inputs from Purkinje cells in the cerebellar cortex and excitatory (glutamatergic) inputs from mossy fiber pathways; all output fibers of the cerebellum originate from the these nuclei MP:0009980 abnormal cerebellum dentate nucleus morphology any structural anomaly of the largest and most lateral of the deep cerebellum nuclei; it receives axons of Purkinje cells in the lateral cerebellar hemisphere (neocerebellum) and receives its afferents from the premotor cortex and the supplementary motor cortex through the pontocerebellar system, and its efferents project through the superior cerebellar peduncle and is a major source of its fibers MP:0009981 abnormal cerebellum emboliform nucleus morphology any structural anomaly of the small wedge shaped nucleus interposed between the dentate and fastigial nuclei; it receives axons from Purkinje cells of the intermediate area of the cerebral hemispheres and most of its efferent connections travel via the superior cerebellar peduncle MP:0009982 abnormal cerebellum globose nucleus morphology any structural anomaly of the two or three small masses of gray matter that is located medial to the emboliform nucleus and lateral to the fastigial nucleus; it receives axons from the intermediate area of the cerebellar hemispheres and its afferents exit through the superior cerebellar peduncle; it is recognized in human cerebellum but is not distinguishable in all mammalian species MP:0009983 abnormal cerebellum fastigial nucleus morphology any structural anomaly of the most medial of the cerebellar nuclei; it receives its afferent input from Purkinje cells of the flocculonodular lobe and the vermis, and most of its efferent connections travel via the inferior cerebellar peduncle to the vestibular nuclei and to the medullary reticular formation MP:0009984 abnormal cerebellum interpositus nucleus morphology any structural anomaly of the nucleus composed of the globose and emboliform nuclei of the cerebellum; in some mammalian species the globose nucleus is not distinguishable MP:0009985 abnormal inferior cerebellar peduncle morphology any structural anomaly of the paired cerebellar peduncles that connects the medulla spinalis and medulla oblongata with the cerebellum, and is composed of juxtarestiform body and restiform body; it carries many types of input and output fibers that are mainly concerned with integrating proprioceptive sensory input with motor vestibular functions such as balance and posture maintenance MP:0009986 abnormal middle cerebellar peduncle morphology any structural anomaly of the largest of the three paired cerebellar peduncles; it is composed mainly of afferent fibers that originate within the pontine nuclei as part of the massive corticopontocerebellar tract, whose fibers descend from the sensory and motor areas of the cerebral neocortex, through the pons and into the cerebellar nuclei and cortex MP:0009987 abnormal superior cerebellar peduncle morphology any structural anomaly of the major output pathway of the cerebellum; most of the efferent fibers originate within the cerebellum dentate nucleus and cerebellum interpositus nuclei, which in turn project to various midbrain structures including the red nucleus, the ventral lateral/ventral anterior nucleus of the thalamus, and the medulla; most of the fibers that pass through this peduncle are involved in pathways important in motor planning MP:0009988 abnormal cerebellum vermis lobule I morphology any structural anomaly of the rostral most of the vermis lobules MP:0009989 abnormal cerebellum vermis lobule II morphology any structural anomaly of the lobule found just caudal to lobule I MP:0009990 abnormal cerebellum vermis lobule III morphology any structural anomaly of the lobule found just caudal to lobule II MP:0009991 abnormal cerebellum vermis lobule IV morphology any structural anomaly of the lobule found just caudal to lobule III MP:0009992 abnormal cerebellum vermis lobule IX morphology any structural anomaly of the lobule found just caudal to lobule VIII MP:0009993 abnormal cerebellum vermis lobule V morphology any structural anomaly of the lobule found just caudal to lobule IV MP:0009994 abnormal cerebellum vermis lobule VI morphology any structural anomaly of the lobule found just caudal to lobule V MP:0009995 abnormal cerebellum vermis lobule VII morphology any structural anomaly of the lobule found just caudal to lobule VI MP:0009996 abnormal cerebellum vermis lobule VIII morphology any structural anomaly of the lobule found just caudal to lobule VII MP:0009997 abnormal cerebellum vermis lobule X morphology any structural anomaly of the caudal most lobule MP:0009998 abnormal cerebellum vermis lobule VIIa morphology any structural anomaly of the division of the vermis lobule VII that is a short, narrow, concealed band at the posterior extremity of the vermis MP:0009999 abnormal cerebellum vermis lobule VIIb morphology any structural anomaly in the posterior division of the vermis lobule VII, it is of small size, and laterally spreads out into the large inferior semilunar lobules MP:0010000 abnormal copula pyramidis morphology MP:0010001 abnormal ansiform lobule morphology any structural anomaly in the lobule comprising the greater part of the hemisphere of the cerebellum; its superior and inferior surfaces are separated by the horizontal fissure into major parts known as crus I and crus II MP:0010002 abnormal ansiform lobule crus I morphology MP:0010003 abnormal ansiform lobule crus II morphology MP:0010004 abnormal paramedian lobule morphology any structural anomaly in the anterior portion of the posteroinferior lobule of the cerebellum MP:0010005 abnormal lobule simplex morphology MP:0010006 abnormal flocculus morphology any structural anomaly of the small region of the cerebellum that receives input from the inferior and medial vestibular nuclei and sends fibers back to the vestibular nuclei, and processes and integrates these signals to allow for the constant maintenance of balance MP:0010007 abnormal paraflocculus morphology any structural anomaly in the lateral part of the flocculus of the cerebellum that receives and integrates multi-modal sensory inputs MP:0010008 abnormal Purkinje cell migration any anomaly in the movement of immature Purkinje cells from the ventricular zone of the fourth ventricle along radial glial cells to the forming Purkinje cell layer during development of the cerebellar cortex MP:0010009 abnormal piriform cortex morphology any structural anomaly of the subdivision of the laminated olfactory cortex with only three main layers that receive monosynaptic input from the olfactory bulb via the lateral olfactory tract; it is located bilaterally in the ventrolateral forebrain and is commonly divided into anterior and posterior regions MP:0010010 abnormal islands of Calleja morphology any structural anomaly of the seven small groups of granule cells in the polymorph layer of the olfactory tubercle and one large group, the insula magna, which lies along the border between septum, nucleus accumbens and nucleus of the diagonal band MP:0010011 ectopic hippocampus pyramidal cells the hippocampus pyramidal cell body resides in places other than the pyramidal cell layer of the hippocampus MP:0010012 ectopic cerebral cortex pyramidal cells the cerebral cortex pyramidal cell body resides in places other than the pyramidal cell layer of the cerebral cortex MP:0010013 cerebral cortex pyramidal cell degeneration a retrogressive impairment or destruction of the projection neuron in the pyramidal layer of the cerebral cortex MP:0010014 hippocampus pyramidal cell degeneration a retrogressive impairment or destruction of a multipolar projection neuron in the hippocampus pyramidal cell layer MP:0010015 abnormal cuticular plate morphology any structural anomaly of the firm laminar network of actin filaments in the organ of Corti to which the apical ends of the cochlear hair cells attach and through which their stereocilia project MP:0010016 variable depigmentation absence or loss of normal pigment in the skin in various and irregular patterns MP:0010017 visceral vascular congestion obstruction of the normal flux of blood within the blood vessel network of the internal organs enclosed within the cavity of the body, such as the thoracic, abdominal, endocrine, and pelvic organs MP:0010018 pulmonary vascular congestion obstruction of the normal flux of blood within the blood vessel network of the lung resulting in engorgement of pulmonary vessels; frequently precedes pulmonary edema MP:0010019 liver vascular congestion obstruction of the normal flux of blood within the blood vessel network of the liver MP:0010020 spleen vascular congestion obstruction of the normal flux of blood within the blood vessel network of the spleen MP:0010021 heart vascular congestion obstruction of the normal flux of blood within the blood vessel network of the heart MP:0010022 brain vascular congestion obstruction of the normal flux of blood within the blood vessel network of the brain MP:0010023 cerebral vascular congestion obstruction of the normal flux of blood within the blood vessel network of the cerebrum MP:0010024 increased total body fat amount greater than the normal total amount of connective tissue composed of fat cells within the entire body MP:0010025 decreased total body fat amount less than the normal total amount of connective tissue composed of fat cells within the entire body MP:0010026 decreased liver cholesterol level less than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MP:0010027 increased liver cholesterol level greater than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MP:0010028 aciduria excretion of urine with an acid pH MP:0010029 abnormal basicranium morphology any structural anomaly of the sloping floor of the cranial cavity that is comprised of parts of the ethmoidal, occipital and sphenoid bones MP:0010030 abnormal orbit morphology any structural anomaly of the bony ring that supports the eyeball and supporting tissues and is formed by parts of several cranial bones MP:0010031 abnormal cranium size deviation from the average range of cranium size compared to normal MP:0010032 obsolete meiotic drive MP:0010033 paraphimosis inability of the penis to retract back into the prepuce/foreskin; entrapment of a retracted foreskin behind the coronal sulcus MP:0010034 abnormal erythrocyte clearance any anomaly in the selective elimination of aging erythrocytes from the body by autoregulatory mechanisms, often expressed as half-life MP:0010035 increased erythrocyte clearance increased elimination of aging erythrocytes from the body by autoregulatory mechanisms, often expressed as half-life MP:0010036 decreased erythrocyte clearance decreased elimination of aging erythrocytes from the body by autoregulatory mechanisms, often expressed as half-life MP:0010037 ectopic melanocytes pigment producing cells are not located in the normal or expected position MP:0010038 abnormal placenta physiology any functional anomaly of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin MP:0010039 abnormal trophoblast giant cell proliferation abnormality in the expansion rate of the trophoblast giant cell population by cell division MP:0010040 abnormal oval cell morphology any structural anomaly of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes MP:0010041 absent oval cells absence of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes MP:0010042 abnormal oval cell physiology any functional anomaly of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes MP:0010043 abnormal frontonasal suture morphology any structural anomaly of the dense, fibrous connective tissue joint between the frontal and nasal bones MP:0010044 abnormal omental fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon MP:0010045 increased omental fat pad weight greater than average weight of the encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon MP:0010046 decreased omental fat pad weight less than average weight of the encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon MP:0010047 axonal spheroids focal 10-50 micron diameter swellings of axons, which are sometimes, but not always, terminal endbulbs, and are filled with disorganized neurofilaments, tubules, organelles or multi-lamellar inclusions MP:0010048 abnormal primitive streak regression any anomaly in the process by which the primitive streak disappears during gastrulation, when the node moves back to a posterior position MP:0010050 hypermyelination increased myelin formation in a myelin sheath over all or part of an axon or fiber tract, usually resulting in a thicker myelin sheath MP:0010052 increased grip strength greater ability to grasp and hold objects, often measured as time spent hanging from an object or wire MP:0010053 decreased grip strength reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire MP:0010054 increased hepatoblastoma incidence greater than the expected number of a malignant neoplasm occurring primarily in the liver and composed of tissue resembling embryonic or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues, occurring in a specific population in a given time period MP:0010055 abnormal sensory neuron physiology any functional anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses MP:0010056 ectopic skeletal muscle skeletal muscle is located in a position not normally occupied by this tissue type MP:0010057 abnormal olfactory bulb outer nerve layer morphology any structural anomaly of the outermost layer of the olfactory bulb; consists primarily of olfactory afferent axons and ensheathing glia MP:0010058 enlarged olfactory bulb increased size of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex MP:0010059 olfactory bulb hypoplasia decrease in the number of normal cells in normal arrangement in the olfactory bulb, typically resulting in decreased size MP:0010060 abnormal creatine level anomaly in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized MP:0010061 increased creatine level increase in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized MP:0010062 decreased creatine level reduction in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized MP:0010063 abnormal circulating creatine level anomaly in the amount per unit of blood of an amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized MP:0010064 increased circulating creatine level increase in the amount per unit of blood of an amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized MP:0010065 decreased circulating creatine level reduction in the amount per unit of blood of an amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized MP:0010066 abnormal red blood cell distribution width an anomaly in the coefficient of variance (reference range) of the red blood cell volume for an organism MP:0010067 increased red blood cell distribution width higher than normal coefficient of variance (reference range) of the red blood cell volume for an organism MP:0010068 decreased red blood cell distribution width lower than normal coefficient of variance (reference range) of the red blood cell volume for an organism MP:0010069 increased serotonin level increase in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity MP:0010070 decreased serotonin level reduction in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity MP:0010071 abnormal pruritus anomaly in the normal absence or presence of an uncomfortable sensation resulting from irritation of the skin or mucous membranes that evokes the desire or reflex to rub or scratch MP:0010072 increased pruritus abnormal presence or increased intensity of an uncomfortable sensation resulting from irritation of the skin or mucous membranes that evokes the desire or reflex to rub or scratch MP:0010073 decreased pruritus absence or decreased intensity of an uncomfortable sensation resulting from irritation of the skin or mucous membranes that evokes the desire or reflex to rub or scratch MP:0010074 stomatocytosis deformation of red blood cells to a cup-like shape, with swelling and with an elongated area of central pallor, instead of the normal biconcave shape MP:0010075 abnormal circulating phytosterol level anomaly in the amount of phytosterols in the blood; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol MP:0010076 abnormal phytosterol level anomaly in the amount of plant sterols often as a result of hyperabsorbtion of phytosterols and decreased biliary excretion of dietary sterols;commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol MP:0010077 increased phytosterol level increased amount of plant sterols often as a result of hyperabsorbtion of phytosterols and decreased biliary excretion of dietary sterols; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol MP:0010078 increased circulating phytosterol level increase in the amount of phytosterols in the blood; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol MP:0010079 increased osteochondroma incidence greater than the expected number of a benign cartilagenous neoplasm that consists of a pedicle of normal bone capped by a region of proliferating cartilage cells, occurring in a specific population in a given time period; osteochondroma is most often associated with one or more of the long bones MP:0010080 abnormal hepatocyte physiology any functional anomaly of the main structural specialized epithelial cells which normally organize into interconnected plates called lobules MP:0010081 posterior microphthalmia reduced average size of the back of the eye MP:0010082 sternebra fusion appearance of one or more sternebrae as a single structure MP:0010084 abnormal long lived plasma cell morphology any structural anomaly of a fully differentiated plasma cell that lives for years, as opposed to months, secretes immunoglobulin, and has the phenotype weakly CD19-positive, CD20-negative, CD38-negative, strongly CD138-positive, MHC Class II-negative, surface immunoglobulin-negative, IgD-negative, and strongly CXCR4-positive; the majority of these cells of this type reside in the bone marrow MP:0010085 abnormal short lived plasma cell morphology any structural anomaly of a fully differentiated plasma cell that lives for months, not years MP:0010086 abnormal circulating fructosamine level any anomaly in the concentration in the blood of total non enzymatic glycated proteins in the blood MP:0010087 increased circulating fructosamine level increase in the concentration in the blood of total non enzymatic glycated proteins in the blood MP:0010088 decreased circulating fructosamine level decrease in the concentration in the blood of total non enzymatic glycated proteins in the blood MP:0010089 abnormal circulating creatine kinase level any anomaly in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine MP:0010090 increased circulating creatine kinase level an elevation in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine MP:0010091 decreased circulating creatine kinase level a reduction in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine MP:0010092 increased circulating magnesium level an elevation in the blood concentration of magnesium MP:0010093 decreased circulating magnesium level a reduction in the blood concentration of magnesium MP:0010094 abnormal chromosome stability anomaly in the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an reduced rate of loss of heterozygosity MP:0010095 increased chromosomal stability decrease in the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an reduced rate of loss of heterozygosity MP:0010096 abnormal incisor color anomaly in the color and shading of the incisor, which normally presents in shades of white MP:0010097 abnormal retina blood vessel morphology any structural anomaly of any of the blood vessels supplying the retina MP:0010098 abnormal retina blood vessel pattern anomaly in the systematic arrangement of the blood vessels supplying the retina MP:0010099 abnormal thoracic cage shape anomaly in the overall regular dome shape of the ribcage MP:0010100 increased cervical vertebrae number increased number of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull MP:0010101 increased sacral vertebrae number increase of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae MP:0010102 increased caudal vertebrae number increased number of the bony segments of the coccyx or tail MP:0010103 small thoracic cage reduced size of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum MP:0010104 enlarged thoracic cage increased size of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum MP:0010105 abnormal sublingual ganglion morphology any structural anomaly of the small parasympathetic ganglion found anterior to the submandibular gland that provides postsynaptic fibers to the sublingual gland MP:0010106 abnormal circulating pyruvate kinase level abnormal concentration in the blood of the phosphotransferase in the glycolytic pathway that catalyzes the transfer of phosphate from phosphoenolpyruvate to ADP, forming ATP and p; deficiency results in hemolytic anemia MP:0010107 abnormal renal reabsorption any anomaly in the two-step process beginning with the active or passive extraction of substances (such as water, glucose, oligopeptides, amino acids, sodium (Na+) and other ions) from the renal tubule fluid into the renal interstitium, and the subsequent transport of these substances out of the renal interstitium back into the bloodstream; reabsorption begins in the proximal convoluted tubules and continues in the loop of Henle, distal convoluted tubules, and collecting tubules MP:0010108 abnormal renal water reabsorption any anomaly in the process by which water is passively transported out of the renal tubules back into the bloodstream MP:0010109 abnormal renal sodium reabsorption any anomaly in the process by which sodium ions are transported out of the renal tubules back into the bloodstream MP:0010110 abnormal renal phosphate reabsorption any anomaly in the process by which phosphate (salt or ester of phosphoric acid) is transported out of the renal tubules back into the bloodstream MP:0010111 abnormal renal calcium reabsorption any anomaly in the process by which calcium ions are transported out of the renal tubules back into the bloodstream MP:0010112 obsolete abnormal coccygeal vertebrae morphology any structural anomaly of the 3-5 separate or fused bony segments of the coccyx MP:0010113 abnormal sacrum morphology any structural anomaly of the segment of the vertebral column that is formed by the fusion of five sacral vertebrae in adult humans and tailless primates MP:0010114 abnormal coccyx morphology any structural anomaly of the rostral-most segment of the vertebral column that is formed by the fusion of three to five coccygeal vertebrae in adult humans and tailless primates MP:0010115 abnormal embryonic cloaca morphology any structural anomaly of the endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm MP:0010116 abnormal primitive urogenital sinus morphology any structural anomaly of the ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females MP:0010117 abnormal lateral plate mesoderm morphology any structural anomaly of the portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures MP:0010118 abnormal intermediate mesoderm morphology any anomaly of the band of mesoderm located between the segmented paraxial mesoderm and the lateral plate mesoderm, that develops into the nephrogenic cord MP:0010119 abnormal bone mineral density anomaly in the quatitative measurment of mineral content of bone; BMD is used as an indicator of bone strength; bone mineral density is the ratio of bone mineral content to bone size MP:0010122 abnormal bone mineral content any anomaly in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area MP:0010123 increased bone mineral content elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area MP:0010124 decreased bone mineral content reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area MP:0010125 abnormal parvocellular neurosecretory cell morphology any structural anomaly of the secretory neurons of the paraventricular nucleus that synthesize and secrete vasopressin, corticotropin-releasing factor (CRF) and thyrotropin-releasing hormone (TRH) into blood vessels in the hypothalamo-pituitary portal system MP:0010126 abnormal distal visceral endoderm morphology any structural anomaly of the precursors of the anterior visceral endoderm that arises at the distal tip of the embryo MP:0010127 hypervolemia an abnormally increased amount of space occupied by blood in the vessels MP:0010128 hypovolemia an abnormally decreased amount of space occupied by blood in the vessels MP:0010129 increased DN1 thymic pro-T cell number increased number of pro-T cells that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative MP:0010130 decreased DN1 thymic pro-T cell number reduced number of pro-T cells that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative MP:0010131 increased DN2 thymocyte number increased number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive MP:0010132 decreased DN2 thymocyte number reduced number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive MP:0010133 increased DN3 thymocyte number increased number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. MP:0010134 decreased DN3 thymocyte number reduced number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. MP:0010135 increased DN4 thymocyte number increased number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. MP:0010136 decreased DN4 thymocyte number reduced number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. MP:0010137 delayed exit from anagen phase anomaly in the growth phase of the hair cycle resulting a prolonged anagen phase MP:0010138 arteritis inflammation of the walls of arteries, usually as a result of infection or autoimmune response MP:0010139 aortitis inflammation of the aorta MP:0010140 phlebitis inflammation of a vein MP:0010141 lymphangitis inflammation of the lymphatic vessels/channels MP:0010142 disorganized hair shaft derangement of the normal pattern of the layered structure of the cuticle, cortex and/or medulla of a hair MP:0010143 enhanced fertility increased physiological ability to produce live offspring MP:0010144 abnormal tumor vascularization aberrant process of blood vessel formation and the subsequent remodeling process within and/or around tumors MP:0010145 abnormal spermatic cord morphology any structural anomaly of the cord-like structure in males comprising the vas deferens and associated tissue that runs from the abdomen down to each testis MP:0010146 umbilical hernia an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close MP:0010147 abnormal endocrine pancreas physiology any functional anomaly of the smaller portion of the pancreas that secretes a number of hormones into the blood stream that are produced by the cells in the islets of Langerhans MP:0010148 abnormal exocrine pancreas physiology any functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes MP:0010149 abnormal synaptic dopamine release aberrant secretion across synapses of the catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary MP:0010150 abnormal mandibular ramus morphology any structural anomaly of the upturned perpendicular extremity of the mandible MP:0010151 abnormal spinal cord ependymal layer morphology any structural anomaly of the cellular membrane that lines the central canal of the spinal cord MP:0010152 abnormal brain ependyma morphology any structural anomaly of the cellular membrane that lines the brain ventricles MP:0010153 abnormal gastroesophageal sphincter morphology any structural anomaly of the thick circular layer of smooth gastric musculature encircling the gastroesophageal junction that functions to reduce backflow into the esophagus from the stomach MP:0010154 abnormal gastroesophageal sphincter physiology any functional anomaly of the thick circular layer of gastric musculature encircling the gastroesophageal junction that functions to reduce backflow into the esophagus from the stomach MP:0010155 abnormal intestine physiology any functional anomaly of the digestive tube passing from the stomach to the anus MP:0010156 abnormal small intestinal crypt cell physiology any functional anomaly of the cells that make up the tubular intestinal glands found in the mucosal membranes of the small intestine MP:0010157 abnormal small intestinal crypt cell proliferation anomaly in the ability of the cells that make up the tubular intestinal glands found in the mucosal membranes of the small intestine to undergo expansion by cell division MP:0010158 abnormal intestine development abnormal formation of the digestive tube passing from the stomach to the anus MP:0010159 abnormal enterocyte differentiation abnormal formation of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen MP:0010160 increased oligodendrocyte number greater number of cells of the central nervous system that form the insulating myelin sheath of axons in the CNS MP:0010161 decreased brain cholesterol level less than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MP:0010162 increased brain cholesterol level greater than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MP:0010163 hemolysis destruction of erythrocytes such that hemoglobin is released from the cells; may occur by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity MP:0010165 abnormal response to stress-induced hyperthermia any anomaly in the expected increase in core body termperature in response to stress or anticipatory anxiety MP:0010166 increased response to stress-induced hyperthermia greater increase or faster than expected increase in core body termperature in response to stress or anticipatory anxiety MP:0010167 decreased response to stress-induced hyperthermia reduction or absence of the expected increase in core body termperature in response to stress or anticipatory anxiety MP:0010168 increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number a greater number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release MP:0010169 decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number a reduction in the number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release MP:0010170 abnormal glial cell apoptosis change in the timing or the number of glial cells undergoing programmed cell death MP:0010171 abnormal centroacinar cell of Langerhans morphology any structural anomaly of the cubodial epithelial cell that is continuous with the lining of intercalated ducts that drain the pancreatic acinus; this cell type secretes a high pH solution to aid in activation of zymogens, and can differentiate into endocrine and exocrine pancreatic cell types MP:0010172 abnormal mammary gland epithelium physiology any functional anomaly of the mammary gland epithelium which is normally enveloped by a basement membrane, embedded into fatty connective tissue stroma, and organized as a bilayer, with an inner luminal layer of secretory epithelial cells, and an outer basal layer; each cell layer expresses specific molecular markers; luminal epithelial cells are characterized by the expression of the receptors for systemic hormones, i.e. estrogens, progesterone and prolactin, whereas basal cells (aka myoepithelial cells) express smooth muscle contractile proteins; in functionally differentiated mammary gland, during lactation, luminal cells produce milk, whereas myoepithelial cells are contractile and serve for milk expulsion MP:0010173 increased mammary gland epithelial cell proliferation increase in the expansion rate of the cells of the mammary gland epithelium by cell division MP:0010174 decreased mammary gland epithelial cell proliferation decrease in the expansion rate of the cells of the mammary gland epithelium by cell division MP:0010175 leptocytosis the presence of unusually thin or flattened red blood cells that when stained show a dark center and a peripheral ring of hemoglobin, separated by a pale unstained ring containing less hemoglobin, resulting in a bull's-eye appearance and resembling a 3D sombrero when viewed under EM; seen in certain anemias, thalassemias, hemoglobinopathies, obstructive jaundice, and the post-splenectomy state MP:0010176 dacryocytosis presence of teardrop-shaped red blood cells MP:0010177 acanthocytosis presence of erythrocytes characterized by multiple spiny (thorn-like) cytoplasmic projections MP:0010178 increased number of Howell-Jolly bodies abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in individuals with functional hyposplenia or asplenia MP:0010179 rough coat coat does not have the usual smooth appearance MP:0010180 increased susceptibility to weight loss greater decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction, infection or xenobiotic treatment MP:0010181 decreased susceptibility to weight loss smaller decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction, infection or xenobiotic treatment MP:0010182 decreased susceptibility to weight gain smaller increase in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake MP:0010183 abnormal CD4-positive helper T cell morphology any structural anomaly of a CD4-positive, alpha-beta T cell that cooperates with other lymphocytes via direct contact or cytokine release to initiate a variety of immune functions MP:0010184 abnormal T follicular helper cell morphology any structural anomaly of a CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cell located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production MP:0010185 abnormal T follicular helper cell number anomaly in the number of the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production MP:0010186 increased T follicular helper cell number greater number of the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production MP:0010187 decreased T follicular helper cell number reduced number of the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production MP:0010188 abnormal T follicular helper cell differentiation atypical production of or inability to produce the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production MP:0010189 abnormal T follicular helper cell physiology any functional anomaly of a CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cell located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production MP:0010190 abnormal retina melanocyte morphology any structural anomaly of the cells that produce pigment in the retina MP:0010191 abnormal choroid melanocyte morphology any structural anomaly of the cells that produce pigment in the choroid MP:0010192 abnormal retina melanin granule morphology any structural anomaly of the pigment particles in the retina MP:0010193 abnormal choroid melanin granule morphology any structural anomaly of the pigment particles in the choroid MP:0010194 absent lymphatic vessels absence of the network of vessels which carries lymph around the body MP:0010195 abnormal lymphatic vessel endothelium morphology any structural anomaly of the thin layer of flat cells that line the lymphatic vessels and form a barrier between circulating lymph in the lumen and the rest of the vessel wall MP:0010196 abnormal lymphatic vessel smooth muscle morphology any structural anomaly of the nonstriated, involuntary muscle tissue that encompasses the lymphatic vessels MP:0010197 abnormal lymphatic vessel endothelial cell morphology any structural anomaly of the cells that line the lymphatic vessels MP:0010198 decreased lymphatic vessel endothelial cell number reduced number of the cells that line the lymphatic vessels MP:0010199 absent lymphatic vessel endothelial cells absence of the cells that line the lymphatic vessels MP:0010200 enlarged lymphatic vessel increased size of the lymphatic vessels which form a network that carries lymph around the body MP:0010202 focal dorsal hair loss focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs MP:0010203 focal ventral hair loss focal hair loss on the ventral area of a rodent resulting in ventral skin visible in a patch where hair loss occurs MP:0010204 abnormal astrocyte apoptosis change in the timing or the number of astrocytes undergoing programmed cell death MP:0010205 abnormal oligodendrocyte apoptosis change in the timing or the number of oligodendrocytes undergoing programmed cell death MP:0010206 pigment incontinence absence of melanin and melanosomes in the epidermis, and accumulation of melanin and melanosome in melanophages in the upper dermis MP:0010207 abnormal telomere morphology any structural anomaly of the terminal repetitive DNA section of a chromosome which is involved in chromosomal replication and senescence, and which protects the end of the chromosome from deterioration MP:0010208 prognathia abnormal protrusion of the mandible relative to the facial skeleton and soft tissues MP:0010209 abnormal circulating chemokine level deviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes in the circulation MP:0010210 abnormal circulating cytokine level deviation from the normal levels in the blood of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells MP:0010211 abnormal acute phase protein level deviation from the normal levels of the series of proteins found in the blood shortly after infection and which participate in the early phases of host defense against infection MP:0010212 abnormal circulating C-reactive protein level deviation from the normal levels of the plasma protein that circulates in increased amounts during inflammation or after tissue damage and binds to phosphocholine expressed on the surface of dead or dying cells, including all types of pneumococci, in order to activate the complement system via the C1Q complex MP:0010213 abnormal circulating fibrinogen level deviation from the normal levels in the blood of a globulin that is converted into fibrin by the action of thrombin in the presence of ionized calcium to produce coagulation of the blood MP:0010214 abnormal circulating serum amyloid protein level deviation from the normal blood levels of an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis MP:0010215 abnormal circulating complement protein level deviation from the normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes MP:0010216 abnormal circulating retinol binding protein level anomaly in the blood level of carrier proteins that bind retinol; serum levels are used to detect liver disease, protein-calorie malnutrition and vitamin A deficiencies MP:0010217 abnormal T-helper 17 cell morphology any structural anomaly of a CD4-positive, alpha-beta T cell with the phenotype RORgamma-t-positive that produces IL-17 MP:0010218 abnormal T-helper 17 cell number deviation from the normal count of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17 MP:0010219 increased T-helper 17 cell number increased number of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17 MP:0010220 decreased T-helper 17 cell number reduced number of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17 MP:0010221 abnormal T-helper 17 cell differentiation atypical production of or inability to produce the CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17 MP:0010222 abnormal T-helper 17 cell physiology any functional anomaly of a CD4-positive, alpha-beta T cell with the phenotype RORgamma-t-positive that produces IL-17 MP:0010223 abnormal immunoglobulin transcytosis any anomaly in the process of transporting immunoglobulin, via transcytosis, from one side of a cell to the other; occurs in epithelial cells and other cell types MP:0010224 abnormal heart ventricle outflow tract morphology any structural anomaly of the superior portion of the ventricles of the heart through which blood flows into the arteries MP:0010225 abnormal quadriceps morphology any structural anomaly of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint MP:0010226 increased quadriceps weight increase in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint MP:0010227 decreased quadriceps weight reduction in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint MP:0010228 decreased transitional stage T3 B cell number reduced number of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive MP:0010229 increased transitional stage T3 B cell number greater number of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive MP:0010230 absent transitional stage T3 B cells absence of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive MP:0010231 transverse fur striping presence of stripes of pigmented hair, usually black, of variable degree and location in the coat MP:0010232 delayed skin pigmentation appearance lag in the time that normal coloration of the skin color occurs in relation to control animals MP:0010233 hairless tail the tail is devoid of hair MP:0010234 abnormal vibrissa follicle morphology any structural anomaly of one of the tubular invaginations of the epidermis enclosing the hair roots and from which grow the vibrissae located on the muzzle and face of many species MP:0010235 abnormal retina inner limiting membrane morphology any structural anomaly of the row of fused Muller cell processes and astrocytes that separates the retinal nerve fiber layer from the vitreous MP:0010236 abnormal retina outer limiting membrane morphology any structural anomaly of the row of junctional complexes between the plasma membranes of rod segments and the Muller glia cells; this barrier separates the layer of inner and outer segments of the rods and cones from the outer nuclear layer and forms a blood-retina barrier MP:0010237 abnormal skeletal muscle weight any anomaly in the average skeletal muscle weight MP:0010238 increased skeletal muscle weight greater than average skeletal muscle weight MP:0010239 decreased skeletal muscle weight less than average skeletal muscle weight MP:0010240 decreased skeletal muscle size less than average dimensions of one or more of the muscles of the skeleton MP:0010241 abnormal aortic arch development anomaly in the process of forming the convex portion of the aorta between the ascending and descending parts of the aorta; including formation of the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery MP:0010242 abnormal kidney copper level an anomaly in the amount of copper present in kidney tissue MP:0010243 increased kidney copper level a greater accumulation of copper in the kidney tissue compared to controls MP:0010244 decreased kidney copper level a reduced amount of copper in the kidney tissue compared to controls MP:0010245 abnormal spleen perifollicular zone morphology any structural anomaly of the compartment located between the marginal zone and the red pulp harboring scattered B and T lymphocytes MP:0010246 abnormal intestine copper level an anomaly in the amount of copper present in the intestine MP:0010247 increased intestine copper level a greater accumulation of copper in intestinal tissue compared with controls MP:0010248 decreased intestine copper level a reduced amount of copper in the intestinal tissue compared to controls MP:0010249 lactation failure mammary glands do not secrete milk after parturition MP:0010250 absent thymus cortex lacking the outer part of the thymus lobule which surrounds the medulla and is normally composed of closely packed lymphocytes MP:0010251 subcapsular cataract a lens opacity localized beneath the anterior or posterior lens capsule MP:0010252 anterior subcapsular cataract a lens opacity localized beneath the anterior lens capsule MP:0010253 posterior subcapsular cataract a lens opacity localized beneath the posterior lens capsule MP:0010254 nuclear cataract a lens opacity located in the dense, central part of the lens MP:0010255 cortical cataract a lens opacity, frequently punctate, affecting the lens cortex in which spokes or wedges progressively extend from the outside of the lens towards the center MP:0010256 anterior cortical cataract a lens opacity, frequently punctate, affecting the anterior pole of the lens cortex in which spokes or wedges progressively extend from the outside of the lens towards the center MP:0010257 posterior cortical cataract a lens opacity, frequently punctate, affecting the posterior pole of the lens cortex in which spokes or wedges progressively extend from the outside of the lens towards the center MP:0010258 polar cataract a lens opacity, usually disk-shaped, that is limited to an area in the anterior or posterior pole of the lens capsular region MP:0010259 anterior polar cataract a lens opacity, usually disk-shaped, that is limited to an area in the anterior pole of the lens capsular region MP:0010260 posterior polar cataract a lens opacity, usually disk-shaped, that is limited to an area in the posterior pole of the lens capsular region MP:0010261 sutural cataract a lens opacity which follows the shape of anterior or posterior Y suture of the fetal lens and is not progressive; often more severe in males and is congenital, but usually does not affect vision MP:0010262 lamellar cataract a concentric lens opacity which is limited to layers of the cortex, affecting one lamella or zonule of an otherwise clear lens; usually congenital MP:0010263 total cataract a lens opacity which involves both nuclear and cortical regions, including all fibers of a lens; usually congenital MP:0010264 increased hepatoma incidence greater than the expected number of malignant tumors composed of neoplastic liver cells in a specific population in a given time period MP:0010265 decreased hepatoma incidence less than the expected number of malignant tumors composed of neoplastic liver cells in a specific population in a given time period MP:0010266 decreased liver tumor incidence less than the expected number of neoplams in the liver, usually in the form of a distinct mass, in a specific population in a given time period MP:0010267 decreased lung tumor incidence less than the expected number of neoplams in the lung, usually in the form of a distinct mass, in a specific population in a given time period MP:0010268 decreased lymphoma incidence less than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period MP:0010269 decreased mammary gland tumor incidence less than the expected number of neoplasms in the mammary gland, usually in the form of a distinct mass, in a specific population in a given time period MP:0010270 decreased stomach tumor incidence less than the expected number of neoplasms in the gastric tissue usually in the form of a distinct mass, in a specific population in a given time period MP:0010271 decreased tongue tumor incidence less than the expected number of neoplasms in the tongue tissue, usually in the form of a distinct mass, in a specific population in a given time period MP:0010272 increased tongue tumor incidence greater than the expected number of neoplasms in the tongue tissue, usually in the form of a distinct mass, in a specific population in a given time period MP:0010273 increased classified tumor incidence greater than the expected number of tumors with a specific classification type in a given population in a given time period MP:0010274 increased organ/body region tumor incidence greater than the expected number of tumors originating in a specific body region or organ in a given population in a given time period MP:0010275 increased melanoma incidence greater than the expected number of malignant neoplasms, derived from melanocytes and occurring in pigmented tissues, in a specific population in a given time period MP:0010276 increased intraocular melanoma incidence greater than the expected number of a dark-pigmented, usually malignant tumor arising from a melanocyte in the uvea of the eye, occurring in a specific population in a given time period MP:0010277 increased astrocytoma incidence greater than the expected number of tumors that arise from astrocytes, large neuroglia cells of nervous tissue, occurring in a specific population in a given time period MP:0010278 increased glioma incidence greater than the expected number of tumors that arise from glial cells, non-neuronal cells of the nervous tissue, occurring in a specific population in a given time period MP:0010279 increased gastrointestinal tumor incidence greater than the expected number of tumors originating in the gastrointestinal system in a given population in a given time period MP:0010280 increased skeletal tumor incidence greater than the expected number of neoplasms in the skeletal tissue, usually in the form of a distinct mass, in a specific population in a given time period MP:0010281 increased nervous system tumor incidence greater than the expected number of tumors originating in the nervous system in a given population in a given time period MP:0010282 decreased organ/body region tumor incidence less than the expected number of tumors originating in a specific body region or organ in a given population in a given time period MP:0010283 decreased classified tumor incidence less than the expected number of tumors with a specific classification type in a given population in a given time period MP:0010284 decreased plasmacytoma incidence less han the expected number of neoplastic plasma cells in bone or in one of the extramedullary sites occurring in a specific population in a given time period MP:0010285 decreased skin tumor incidence less than the expected number of neoplasms in the skin tissue usually in the form of a distinct mass, in a specific population in a given time period MP:0010286 increased plasmacytoma incidence greater than the expected number of neoplastic plasma cells in bone or in one of the extramedullary sites occurring in a specific population in a given time period MP:0010287 increased reproductive system tumor incidence greater than the expected number of tumors originating in the reproductive system in a given population in a given time period MP:0010288 increased gland tumor incidence greater than the expected number of tumors originating in a gland in a given population in a given time period MP:0010289 increased urinary system tumor incidence greater than the expected number of tumors originating in the urinary system in a given population in a given time period MP:0010290 increased muscle tumor incidence greater than the expected number of tumors originating in muscle tissue in a given population in a given time period MP:0010291 increased cardiovascular system tumor incidence greater than the expected number of tumors originating in the cardiovascular system in a given population in a given time period MP:0010292 increased alimentary system tumor incidence greater than the expected number of tumors originating in the alimentary system in a given population in a given time period MP:0010293 increased integument system tumor incidence greater than the expected number of tumors originating in the integument system in a given population in a given time period MP:0010294 increased kidney tumor incidence greater than the expected number of tumors originating in the kidney in a given population in a given time period MP:0010295 increased eye tumor incidence greater than the expected number of tumors originating in the eye in a given population in a given time period MP:0010296 increased hemolymphoid system tumor incidence greater than the expected number of tumors originating in the hemolymphoid system in a given population in a given time period MP:0010297 increased hepatobiliary system tumor incidence greater than the expected number of tumors originating in the hepatobiliary system in a given population in a given time period MP:0010298 increased respiratory system tumor incidence greater than the expected number of tumors originating in the respiratory system in a given population in a given time period MP:0010299 increased mammary gland tumor incidence greater than the expected number of neoplasms in the mammary gland, usually in the form of a distinct mass, in a specific population in a given time period MP:0010300 increased skin tumor incidence greater than the expected number of neoplasms in the skin tissue usually in the form of a distinct mass, in a specific population in a given time period MP:0010301 increased stomach tumor incidence greater than the expected number of neoplasms in the gastric tissue usually in the form of a distinct mass, in a specific population in a given time period MP:0010302 increased uvea tumor incidence greater than the expected number of neoplasms in the uvea, usually in the form of a distinct mass, in a specific population in a given time period MP:0010303 increased retina tumor incidence greater than the expected number of neoplasms in the retina, usually in the form of a distinct mass, in a specific population in a given time period MP:0010304 increased choroid tumor incidence greater than the expected number of neoplasms in the choroid of the eye, usually in the form of a distinct mass, in a specific population in a given time period MP:0010305 increased iris tumor incidence greater than the expected number of neoplasms in the iris of the eye, usually in the form of a distinct mass, in a specific population in a given time period MP:0010306 increased hamartoma incidence greater than the expected number of benign focal malformations in a specific population in a given time period; results from faulty development of an organ, and is composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element normally present at that site MP:0010307 abnormal tumor latency anomaly in the expected time of onset of tumor occurrence MP:0010308 decreased tumor latency earlier onset of tumor occurrence than expected MP:0010309 increased mesothelioma incidence greater than the expected number of neoplasms derived from the lining cells of the pleura and peritoneum, in a specific population in a given time period; is composed of spindle cells or fibrous tissue which may enclose glandlike spaces lined by cuboidal cells MP:0010310 increased Schwannoma incidence greater than the expected number of benign, encapsulated nerve sheath tumors composed of Schwann cells, in a specific population in a given time period; usually associated with a peripheral or cranial nerve MP:0010311 increased meningioma incidence greater than the expected number of encapsulated neoplasms derived from the meninges, in a specific population in a given time period MP:0010312 increased oligodendroglioma incidence greater than the expected number of encapsulated neoplasms derived from oligodendrocytes, in a specific population in a given time period MP:0010313 increased osteoma incidence greater than the expected number of benign neoplasms derived from lamellar bone, in a specific population in a given time period MP:0010314 increased neurofibroma incidence greater than the expected number of benign, encapsulated nerve sheath tumors composed of Schwann cells, in a specific population in a given time period; proliferation is disordered and includes portions of nerve fibers MP:0010315 increased cholangiocarcinoma incidence greater than the expected number of malignant adenocarcimomas arising in the intrahepatic bile duct epithelium, in a specific population in a given time period MP:0010316 increased thyroid tumor incidence greater than the expected number of neoplams in the thyroid occurring in a specific population in a given time period MP:0010317 increased parotid gland tumor incidence greater than the expected number of neoplams in the parotid gland occurring in a specific population in a given time period MP:0010318 increased salivary gland tumor incidence greater than the expected number of neoplams in the salivary gland occurring in a specific population in a given time period MP:0010319 increased submandibular gland tumor incidence greater than the expected number of neoplams in the submandibular gland occurring in a specific population in a given time period MP:0010320 increased pituitary gland tumor incidence greater than the expected number of neoplams in the pituitary gland occurring in a specific population in a given time period MP:0010321 increased parathyroid gland tumor incidence greater than the expected number of neoplams in the parathyroid gland occurring in a specific population in a given time period MP:0010322 increased cutaneous melanoma incidence greater than the expected number of a dark-pigmented, usually malignant tumor arising from a melanocyte in the skin, occurring in a specific population in a given time period MP:0010323 retropulsion a tendency to step or walk backwards MP:0010324 abnormal malleus processus brevis morphology any structural anomaly of the projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane where the tympanic cavity makes a deep pocket (epitympanic pocket) surrounding the cartilaginous nodule MP:0010325 abnormal malleus head morphology any structural anomaly of the rounded portion of the malleus articulating with the body of the incus MP:0010326 malleus hypoplasia decrease in the number of normal cells in normal arrangement in the malleus, typically resulting in decreased size MP:0010327 abnormal malleus neck morphology any structural anomaly of the narrow contracted section of the malleus located between the head and the manubrium MP:0010328 thin malleus neck smaller diameter of the narrow contracted section of the malleus located between the head and the manubrium MP:0010329 abnormal lipoprotein level any anomaly in the concentrations of any complex or compound containing both lipid and protein, are important components of biological membranes and myelin, and participate in lipid transport MP:0010330 abnormal circulating lipoprotein level any anomaly in the concentration in the blood of any complex or compound containing both lipid and protein, are important components of biological membranes and myelin, and participate in lipid transport MP:0010331 abnormal apolipoprotein level anomaly in the amount of the a protein that is frequently a component of a lipoprotein complex MP:0010332 abnormal circulating apolipoprotein level anomaly in the amount in the blood of a protein that is frequently a component of a lipoprotein complex MP:0010333 abnormal circulating apolipoprotein E level anomaly in the amount in the blood of a protein that is frequently a component of a VLDL, HDL, and chylomicron complexes, and functions in cholesterol transport MP:0010334 pleural effusion accumulation of excess fluid in the pleural cavity MP:0010335 fused first pharyngeal arch the first arch fails to fully divide along the midline MP:0010336 increased acute lymphoblastic leukemia incidence leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood MP:0010337 increased chronic lymphocytic leukemia incidence an indolent (slow-growing) cancer in which too many immature lymphocytes (white blood cells) are found mostly in the blood and bone marrow.; in later stages of the disease, cancer cells are sometimes found in the lymph nodes MP:0010338 increased desmoid tumor incidence greater than the expected number of a monoclonal, fibroblastic proliferation arising in musculoaponeurotic structures in a specific population in a given time period; this connective tissue hyperplasia infiltrates locally, recurs frequently after resection but does not metastasize; this tumor may occur at the site of any fascia, but in particular in muscle MP:0010339 increased cardiac fibroma incidence greater than the expected number of a benign tumor of fibrous or fully developed connective tissue in the cardiac tissue, in a specific population in a given time period MP:0010340 increased lung fibroma incidence greater than the expected number of a benign tumor of fibrous or fully developed connective tissue in the lung, in a specific population in a given time period MP:0010341 increased mammary gland fibroma incidence greater than the expected number of a benign tumor of fibrous or fully developed connective tissue in the mammary gland, in a specific population in a given time period MP:0010342 increased facial angiofibroma incidence greater than the expected number of a benign tumor of fibrous or fully developed connective tissue on the face, in a specific population in a given time period; appear as red or yellow papules containing dilated vascular channels MP:0010343 increased lipoma incidence greater than the expected number of a benign neoplasia derived from lipoblasts or lipocytes of white or brown fat, occurring in a specific population in a given time period MP:0010344 increased hibernoma incidence greater than the expected number of a benign neoplasm derived from brown fat occurring in a specific population in a given time period MP:0010345 increased thyroid C-cell carcinoma incidence greater than the expected number of a malignant neoplasm derived from the calcitonin producing C-cells of the thyroid gland, occurring in a specific population in a given time period MP:0010346 increased thyroid carcinoma incidence greater than the expected number of a malignant epithelial neoplasms of the thyroid gland, occurring in a specific population in a given time period MP:0010347 osseous metaplasia the formation of mature bone elements in the stroma of a neoplasm MP:0010348 increased pancreatic islet cell carcinoma incidence greater than the expected number of malignant neoplasms arising in the pancreatic islet cells, occurring in a specific population in a given time period MP:0010349 increased teratocarcinoma incidence greater than the expected number of a mixed germ cell neoplasm contaning elements of embryonal carcinoma and teratoma, occurring in a specific population in a given time period MP:0010350 increased pituitary adenohypophysis tumor incidence greater than the expected number of neoplasms in the anterior part of the pituitary that secretes a variety of hormones, occurring in a specific population in a given time period MP:0010351 increased pituitary melanotroph tumor incidence greater than the expected number of neoplasms derived from the cells of intermediate pituitary that produce melanocyte stimulating hormone and other peptides from the post-translational processing of pro-opiomelanocortin (POMC) MP:0010352 gastrointestinal tract polyps abnormal tissue masses that protrude into the lumen of the gastrointestinal tract and are tethered to the wall of the gastrointestinal tract MP:0010353 increased odontoma incidence greater than the expected number of a hamartomatous odontogenic tumor composed of enamel, dentin, cementum, and pulp tissue that may or may not be arranged in the form of a tooth, occurring in a specific population in a given time period MP:0010354 increased odontosarcoma incidence greater than the expected number of an a gnathic malignant connective tissue tumor in which the epithelial component is benign and the proliferative mesenchymal component is malignant, occurring in a specific population in a given time period MP:0010355 abnormal first pharyngeal arch artery morphology any structural anomaly of the vessels formed within the first pair of branchial arches in embryogenesis MP:0010356 abnormal second pharyngeal arch artery morphology any structural anomaly of the vessels formed within the second pair of branchial arches in embryogenesis MP:0010357 increased prostate gland tumor incidence greater than the expected number of neoplams in the prostate gland occurring in a specific population in a given time period MP:0010358 abnormal free fatty acids level any anomaly in the concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues MP:0010359 increased liver free fatty acids level elevated liver concentrations of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues MP:0010360 decreased liver free fatty acids level reduced liver concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues MP:0010361 increased gangliosarcoma incidence greater than the expected number of a highly aggressive malignant neoplasm arising from mature ganglionic neurons, in a specific population in a given time period MP:0010362 increased ganglioneuroma incidence greater than the expected number of a benign neoplasm composed of mature ganglionic neurons in a given population in a given time period; cells may be scattered singly or in clumps within a relatively abundant and dense stroma of neurofibrils and collagenous fibers MP:0010363 increased fibrosarcoma incidence greater than the expected number of a highly aggressive malignant neoplasm arising from fibrous connective tissue, in a specific population in a given time period MP:0010364 increased fibroadenoma incidence greater than the expected number of a benign mammary gland tumor composed of both fibrous tissue and glandular tissue, in a specific population in a given time period MP:0010365 increased thymus tumor incidence greater than the expected number of neoplams in the thymus occurring in a specific population in a given time period MP:0010366 increased adrenal cortical tumor incidence greater than the expected number of neoplams in the adrenal cortex occurring in a specific population in a given time period MP:0010367 increased spindle cell carcinoma incidence greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle shape cells with sarcomatous appearance MP:0010368 abnormal lymphatic system physiology any functional anomaly of the interconnected system of spaces, organs and vessels between body tissues and organs through which fluid, fats, proteins, and lymphocytes are transported to the bloodstream as lymph, and microorganisms and other debris are removed from tissues MP:0010369 abnormal thalamus neuron morphology any structural anomaly of the impulse-conducting cells in the thalamus or its parts, a midline paired symmetrical structure between the cerebral cortex and midbrain within the brain that controls the flow of information to the cortex MP:0010370 abnormal throat morphology any structural anomaly in the anterior part of the neck, in front of the vertebral column comprising the pharynx and larynx MP:0010371 abnormal epiglottis morphology any structural anomaly of the most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink MP:0010372 throat cyst presence of one or more fluid-filled, usually benign, growths in the passage from the mouth to the pharynx MP:0010373 myeloid hyperplasia greater than normal number of nucleated cells of the myeloid lineage (a monocyte, granulocyte, or mast cell), found in blood or other tissue MP:0010374 bilirubinate stones caliculi in the gallbladder or a bile duct that is composed of calcium bilirubinate MP:0010375 increased kidney iron level increase in the amount of iron present in the renal tissue MP:0010376 decreased kidney iron level reduction in the amount of iron present in the renal tissue MP:0010377 abnormal gut flora balance anomaly in the ratio of microorganisms that live in the digestive tracts of animals, many of which perform symbiotic functions to the host MP:0010378 increased respiratory quotient increase in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls MP:0010379 decreased respiratory quotient reduction in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls MP:0010380 abnormal inner cell mass apoptosis the cells of the blastocyst that develop into the body of the embryo are undergoing programmed cell death MP:0010381 abnormal dosage compensation anomaly in the process of compensating for the two-fold variation in X:autosome chromosome ratios between sexes by a global activation or inactivation of all, or most of, genes on one or both of the X chromosomes MP:0010382 abnormal dosage compensation, by inactivation of X chromosome anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex MP:0010383 increased adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization, occurring in a specific population in a given time period; this tumor type usually does not invade or infiltrate surrounding tissue but may remain a benign tumor or progress to malignancy MP:0010384 increased renal carcinoma incidence greater than the expected number of malignant neoplasms arising from kidney epithelial tissue, occurring in a specific population in a given time period MP:0010385 abnormal glycinergic neuron morphology any structural anomaly of the neurons that utilize glycine as a neurotransmitter MP:0010386 abnormal urinary bladder physiology any functional anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys MP:0010387 abnormal Bergmann glial cell morphology any structural anomaly of one or more astrocyte-type glia cells associated with Purkinje cells in the cerebellum MP:0010388 abnormal Bergmann glial cell differentiation abnormal formation of the astrocyte-type glia cells associated with Purkinje cells in the cerebellum MP:0010389 mosaic coat color a random coat color pattern due to genetically different populations of cells in the skin e.g. as the result of X-inactivation MP:0010390 increased adrenocortical adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the adrenal cortex, occurring in a specific population in a given time period MP:0010391 increased rhabdomyoma incidence greater than the expected number of a benign neoplasm derived from striated muscle and comprised of an encapsulated mass of polygonal cells, occurring in a specific population in a given time period MP:0010392 prolonged QRS complex duration increase in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart MP:0010393 shortened QRS complex duration decrease in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart MP:0010394 decreased QRS amplitude reduction in the size (height or maximum displacement) of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction, suggesting ventricular excitation defects MP:0010395 abnormal pharyngeal arch development abnormal formation of the of the transient structures of the embryo that develop into regions of the head, neck and ears MP:0010396 ectopic pharyngeal arch abnormal location of any of the transient structures of the embryo resulting in misplaced regions of the head, neck and/or ears MP:0010397 abnormal otic capsule development any anomaly in the embryonic cartilage covering that surrounds the inner ear mechanism and develops into bone MP:0010398 decreased liver glycogen level less than the normal concentration of a readily converted carbohydrate reserve in liver MP:0010399 decreased skeletal muscle glycogen level less than the normal concentration of a readily converted carbohydrate reserve in skeletal muscle MP:0010400 increased liver glycogen level greater than the normal concentration of a readily converted carbohydrate reserve in liver MP:0010401 increased skeletal muscle glycogen level greater than the normal concentration of a readily converted carbohydrate reserve in skeletal muscle MP:0010402 ventricular septal defect abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions MP:0010403 atrial septal defect abnormal communications between the two upper chambers of the heart, including such defects in any or all of the ostium primum, ostium secundum, sinus venosus, and coronary sinus regions MP:0010404 ostium primum atrial septal defect interatrial communication (atrial septal defect) through the most anterior and inferior aspect of the atrial septum MP:0010405 ostium secundum atrial septal defect large interatrial communication (atrial septal defect) through the center of the wall between the atria at the site of the foramen ovale and the ostium secundum MP:0010406 common atrium absence of the thin membranous structure between the two heart atria, resulting in the appearance of one upper chamber MP:0010407 coronary sinus atrial septal defect interatrial communication (atrial septal defect) through coronary sinus orifice, that is characterized by the absence of at least a portion of the common wall that separates the coronary sinus and the left atrium; interatrial shunting occurs through the defect in the wall on the left atrial side, which is continuous with the orifice of the coronary sinus opening on the right atrial side of the septum MP:0010408 sinus venosus atrial septal defect interatrial communication (atrial septal defect) through the upper atrial septum and that is contiguous with the superior vena cava (SVC); it is rostral and posterior to the fossa ovalis (where secundum type defects occur) and is separate from it MP:0010409 cor triatriatum a heart with 3 atria, is in which either the left or right atrium is divided into 2 parts by a fold of tissue, a membrane, or a fibromuscular band that may vary significantly in size and shape, appearing similar to a diaphragm or funnel-shaped, bandlike, entirely intact (imperforate) or contain 1 or more openings (fenestrations) ranging from small, restrictive-type to large and widely open MP:0010410 cor triatriatum sinistrum a heart with 3 atria, is in which the left atrium is divided into 2 parts by a fold of tissue, a membrane, or a fibromuscular band MP:0010411 cor triatriatum dextrum a heart with 3 atria, is in which the right atrium is divided into 2 parts by a fold of tissue, a membrane, or a fibromuscular band MP:0010412 atrioventricular septal defect defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD) MP:0010413 complete atrioventricular septal defect a type of atrioventricular septal defect in which a single atrioventricular valve annulus, a common atrioventricular valve, and a defect of the inlet ventricular septum are observed; deficiency of the atrioventricular septum also results in the presence of a large primum atrial septal defect MP:0010414 partial atrioventricular septal defect a type of atrioventricular septal defect in which the endocardial cushion defects present have an interatrial communication but lack an interventricular communication; the mitral and tricuspid annuli are separate but one or more additional features are present, including primum atrial septal defect (ASD), inlet ventricular septal defect (VSD), cleft of the anterior mitral valve leaflet, and wide anteroseptal tricuspid valve commissure or cleft septal tricuspid leaflet MP:0010415 intermediate atrioventricular septal defect a type of atrioventricular septal defect in which a partial AVSD is present together with a small interventricular communication; a single valvar annulus is usually present where the anterior and posterior bridging leaflets fuse overlying the ventricular septum, with two distinct valvar components observed MP:0010416 interventricular septum membranous part aneurysm a a saclike thinning, stretching and widening of the ventricular membranous septum resulting from weakening of the membraneous septum wall MP:0010417 subarterial ventricular septal defect abnormal communications between the two lower chambers of the heart, located beneath the pulmonic valve, communicating with the RV outflow tract above the supraventricular crest, and are associated with aortic regurgitation secondary to the prolapse of the right aortic cusp MP:0010418 perimembraneous ventricular septal defect abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect MP:0010419 inlet ventricular septal defect abnormal communications between the two lower chambers of the heart, located posterior to the septal leaflet of the tricuspid valve and which are not associated with defects of the atrioventricular valves MP:0010420 muscular ventricular septal defect abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect MP:0010421 ventricular aneurysm thinning, stretching and bulging of a weakened ventricular wall MP:0010422 heart right ventricle hypoplasia decrease in the number of normal cells in normal arrangement in the heart right ventricle, typically resulting in decreased size MP:0010423 heart right ventricle aneurysm thinning, stretching and bulging of a weakened heart right ventricular wall MP:0010424 double chambered heart right ventricle septated right ventricle caused by the presence of abnormally located or hypertrophied cardiac muscle bands that divide the ventricular cavity into a proximal and a distal chamber; the muscle bundles typically run between an area located in the ventricular septum, beneath the level of the septal leaflet of the tricuspid valve, and the anterior wall of the right ventricle MP:0010425 abnormal heart and great vessel attachment any anomaly in the in the position or pattern of the connection site of the heart to any of the primary vessels, including the superior vena cavae, inferior vena cavae, pulmonary artery, pulmonary veins, and aorta MP:0010426 abnormal heart and great artery attachment any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta MP:0010427 double outlet left ventricle both the aorta and the pulmonary trunk originate from the left ventricle MP:0010428 abnormal heart right ventricle outflow tract morphology any structural anomaly of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk MP:0010429 abnormal heart left ventricle outflow tract morphology any structural anomaly of the anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta MP:0010430 total anomalous pulmonary venous connection, supracardiac the pulmonary veins drain via a common vein into the right superior vena cava, left superior vena cava, or their tributaries instead of the left atrium MP:0010431 atrial situs inversus anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the opposite side of the body MP:0010432 common ventricle the presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle MP:0010433 double inlet heart left ventricle congenital heart defect in which both atriums are connected to the left ventricle, with a hypoplastic right ventricle often present, which may be on the opposite side of the heart MP:0010434 double inlet heart right ventricle congenital heart defect in which both atriums are connected to the right ventricle, with a hypoplastic left ventricle often present MP:0010435 abnormal heart atrium and ventricle connection any anomaly in the in the position or pattern of the connection site of the heart atrium to the ventricles, usually occurring through the atrioventricular valves MP:0010436 abnormal coronary sinus morphology any structural anomaly of the short trunk that recieves most of the cardiac veins carrying the blood from the myocardium and delivers it to the right atrium, with the sinoatrial connection occurring between the inferior vena cava and the atrioventricular orifice MP:0010437 absent coronary sinus absence of the short trunk that recieves most of the cardiac veins carrying the blood from the myocardium and delivers it to the right atrium MP:0010438 pulmonary vein stenosis abnormal narrowing or constriction of the lumen of the pulmonary vein MP:0010439 abnormal hepatic vein morphology any structural anomaly of the veins that drain blood from the liver and terminate in three large openings to the inferior vena cava below the diaphragm and into smaller openings in more inferior positions MP:0010440 anomalous pulmonary venous connection abnormal development and attachment of the four pulmonary veins that normally attach to the left atrium of the heart, resulting in either partial or complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery MP:0010441 total anomalous pulmonary venous connection abnormal development and attachment of all four pulmonary veins that normally attach to the left atrium of the heart, resulting in complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery; in TAPVC, none of the four pulmonary veins are attached to the left atrium MP:0010442 partial anomalous pulmonary venous connection abnormal development and attachment of one to three of the four pulmonary veins that normally attach to the left atrium of the heart, resulting in partial drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery; in PAPVC, at least one pulmonary vein remains attached to the left atrium MP:0010443 total anomalous pulmonary venous connection, intracardiac the pulmonary veins connect directly to the right side of heart (eg, coronary sinus or directly to the right atrium) instead of the left atrium MP:0010444 total anomalous pulmonary venous connection, infracardiac the common pulmonary vein travels down anterior to the esophagus through the diaphragm to connect to the portal venous system instead of the left atrium MP:0010445 total anomalous pulmonary venous connection, mixed the right and left pulmonary veins drain to different sites other than the left atrium; for example, the left pulmonary veins into the left vertical vein to the left innominate, and/or the right pulmonary veins directly into the right atrium or coronary sinus MP:0010446 heart left ventricle hypoplasia decrease in the number of normal cells in normal arrangement in the heart left ventricle, typically resulting in decreased size MP:0010447 heart left ventricle aneurysm thinning, stretching and bulging of a weakened heart left ventricular wall MP:0010448 heart left ventricle outflow tract stenosis abnormal narrowing or constriction of the portion of the left ventricle through which blood normally flows into the aorta MP:0010449 heart right ventricle outflow tract stenosis abnormal narrowing or constriction of part of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk MP:0010450 atrial septal aneurysm a saclike thinning, stretching and widening of the heart atrial septum resulting from weakening of the septum wall MP:0010451 kidney microaneurysm focal dilation of arteriocapillary junctions in the kidney MP:0010452 retina microaneurysm focal dilation of arteriocapillary junctions in the retina MP:0010453 abnormal coronary vein morphology any structural anomaly of any of the veins that return blood from the heart muscles to the right atrium through the coronary sinus MP:0010454 abnormal truncus arteriosus septation anomaly in the process of dividing the common arterial trunk arising out of both heart ventricles to divide into the aorta and pulmonary artery during development MP:0010455 aortopulmonary window a defect between the great vessels that results from failure of the conotruncal ridges to fuse resulting in an abnormal communication between the aorta and the pulmonary arteries MP:0010456 hemitruncus congenital heart defect in which the origin of a pulmonary artery, usually the right, arises from the ascending aorta instead of the pulmonary trunk with the aortic and pulmonary valves remaining separate MP:0010457 pulmonary artery stenosis abnormal narrowing or constriction of the pulmonary artery MP:0010458 pulmonary trunk hypoplasia decrease in the number of normal cells in normal arrangement in the pulmonary trunk, typically resulting in decreased size MP:0010459 supravalvar pulmonary trunk stenosis diffuse constriction or narrowing of the pulmonary trunk distal to the pulmonary valve MP:0010460 pulmonary artery hypoplasia decrease in the number of normal cells in normal arrangement in the pulmonary artery, typically resulting in decreased size MP:0010461 discontinuous pulmonary artery one or more pulmonary arteries is disconnected from the main pulmonary trunk and arises from a patent ductus arteriosus MP:0010462 pulmonary artery aneurysm a protruding sac formed by the dilation of the wall of a pulmonary artery resulting from a weakening of the vessel wall MP:0010463 aorta stenosis diffuse constriction or narrowing of the aorta MP:0010464 abnormal aortic arch and aortic arch branch attachment any anomaly of the connection site of the aortic branches to the aortic arch, including the attachment sites for the left common carotid artery, the left subclavian artery, and the brachiocephalic trunk which further splits to form the right subclavian artery and the right common carotid artery MP:0010465 aberrant origin of the right subclavian artery the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta MP:0010466 vascular ring the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches MP:0010467 pulmonary artery sling anomalous origin of the left pulmonary artery from the posterior aspect of the right pulmonary artery, with the anomalous left pulmonary artery coursing over the right mainstem bronchus and then from right to left, posterior to the trachea or carina and anterior to the esophagus, to reach the hilum of the left lung, which compresses the lower trachea and right mainstem bronchus MP:0010468 abnormal thoracic aorta morphology any structural anomaly of the part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest MP:0010469 ascending aorta hypoplasia decrease in the number of normal cells in normal arrangement in the ascending aorta, typically resulting in decreased size MP:0010470 dilated ascending aorta the luminal space of the ascending aorta is increased in volume or area, usually with an increase of contained fluid MP:0010471 supravalvar aortic stenosis a narrowing, diffuse constriction or obstruction of the ascending aorta located just distal to the aortic valve at the aortic root MP:0010472 abnormal ascending aorta and coronary artery attachment any anomaly of the connection site of any or all of the coronary arteries to the ascending aorta MP:0010473 descending aorta dilation widening or enlargment of the lumen of the descending aorta MP:0010474 descending aorta hypoplasia decrease in the number of normal cells in normal arrangement in the descending aorta, typically resulting in decreased size MP:0010475 anomalous pulmonary origin of left coronary artery the left coronary artery arises from the pulmonary artery insead of the aorta MP:0010476 coronary fistula an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering either a chamber of the heart (coronary-cameral fistula) or any segment of the systemic or pulmonary circulation (coronary arteriovenous fistula) MP:0010477 coronary artery aneurysm a protruding sac formed by the dilation of the wall of a coronary artery resulting from a weakening of the vessel wall MP:0010478 intracranial aneurysm a protruding sac within the cranial space formed by the dilation of the wall of an artery or a vein resulting from a weakening of the vessel wall MP:0010479 brain aneurysm a protruding sac within the brain formed by the dilation of the wall of an artery or a vein resulting from a weakening of the vessel wall MP:0010480 pulmonary arteriovenous malformation abnormal communications between the pulmonary arteries and the pulmonary veins, or between a bronchial artery and the pulmonary vein MP:0010481 heart left ventricle to aorta tunnel an abnormal communication between the left ventricle and the ascending aorta in addition to the aortic valve MP:0010482 abnormal aortic sinus morphology any structural anomaly of the spaces betwen the superior aspect of each of the three cusps of the aortic valve and the dilated portion of the wall of the ascending aorta, immediately above each cusp; the three sinuses include the posterior (non-coronary sinus), and the right and left aortic sinuses (from which the left and right coronary arteries arise) MP:0010483 aortic sinus aneurysm a protruding sac formed by the dilation of the wall of the aortic sinus resulting from a weakening of the vessel wall MP:0010484 bicuspid aortic valve the presence of two cusps in the aortic valve instead of three MP:0010485 aortic arch hypoplasia decrease in the number of normal cells in normal arrangement in the aortic arch, typically resulting in decreased size MP:0010486 absent right subclavian artery absence of one of the two subclavian arteries; the right subclavian artery normally extends from the brachiocephalic artery to the right side of the body MP:0010487 abnormal right subclavian artery morphology any structural anomaly of the artery that normally extends from the brachiocephalic artery to the right side of the body MP:0010488 abnormal left subclavian artery morphology any structural anomaly of the artery that extends from the aortic arch to the left side of the body MP:0010489 abnormal heart atrium auricular region morphology any structural anomaly of the small conical pouch projections located on the upper anterior portion of each atrium of the heart MP:0010490 abnormal inferior vena cava valve morphology any structural anomaly of the semicircular fold of endocardium located on the right atrium at the point of attachment of the inferior vena cava MP:0010491 abnormal coronary sinus valve morphology any structural anomaly of the semicircular fold of the right atrial endocardium located at the coronary sinus attachment to the right atrium that serves to prevent the reflux of blood back to the coronary arteries during atrial contraction MP:0010492 abnormal atrium endocardium morphology any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the atria MP:0010493 abnormal atrium myocardium morphology any structural anomaly of the atrial part of middle layer of the heart, comprised of involuntary muscle MP:0010494 abnormal ventricle endocardium morphology any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the ventricles MP:0010495 abnormal crista terminalis morphology any structural anomaly of the vertical crest of the interior wall of the right atrium that lies to the right of the sinus of the vena cava and separates this from the remainder of the right atrium MP:0010496 abnormal pectinate muscle morphology any structural anomaly of the prominent ridges of atrial myocardium located on the inner surface of most of the right atrium and both the right and left auricular regions MP:0010497 abnormal vena cava sinus morphology any structural anomaly of the portion of the cavity of the right atrium of the heart that receives the blood from the vena cavae and is separated from the rest of the atrium by the crista terminalis MP:0010498 abnormal interventricular septum muscular part morphology any structural anomaly of the muscular portion of the wall between the two lower chambers of the heart MP:0010499 abnormal ventricle myocardium morphology any structural anomaly of the ventricular part of middle layer of the heart, comprised of involuntary muscle MP:0010500 myocardium hypoplasia decrease in the number of normal cells in normal arrangement in the heart myocardium, typically resulting in decreased size MP:0010501 atrium myocardium hypoplasia decrease in the number of normal cells in normal arrangement in the atrial myocardium, typically resulting in decreased size MP:0010502 ventricle myocardium hypoplasia decrease in the number of normal cells in normal arrangement in the ventricle myocardium, typically resulting in decreased size MP:0010503 myocardial trabeculae hypoplasia decrease in the number of normal cells in normal arrangement in the myocardial trabeculae, typically resulting in decreased size MP:0010504 abnormal RR interval anomaly in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate MP:0010505 abnormal T wave any anomaly in the T wave which is normally caused by the repolarization (or recovery) of the ventricles MP:0010506 prolonged RR interval increase in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate MP:0010507 shortened RR interval reduction in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate MP:0010508 abnormal heart electrocardiography waveform feature any anomaly in the pattern of the graphic record of the integrated action currents of the cardiac cycle represented as changes in voltage; the prominent waves in the ECG correspond to specific conduction activity in areas of the heart and the timing and amplitude of ECG waveforms provide valuable information about heart rate and rhythm MP:0010509 decreased P wave amplitude reduction in the size (height or maximum displacement) of the P wave MP:0010510 absent P wave absence of the P wave which represents atrial depolarization and corresponds to electrical impulses rather than mechanical atria contractions MP:0010511 shortened PR interval decrease in the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex MP:0010512 absent PR interval absence of the ECG segment representing the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex MP:0010513 abnormal ventricular activation time any anomaly in the length of time from the beginning of the Q wave to the peak of the R wave MP:0010514 fragmented QRS complex changes in QRS waveform pattern including different RSR' patterns, additional R waves, notched or absent Q or S wave, or more than one R wave MP:0010515 abnormal Q wave any anomaly in the downward deflection in the ECG occurring after the PR interval that represents depolarization of the interventricular septum MP:0010516 absent Q wave absence of the downward deflection in the ECG occurring after the PR interval that represents depolarization of the interventricular septum MP:0010517 abnormal Bachmann's bundle morphology any structural anomaly of the impulse conduction tract that originates in the sinoatrial node and transmits signal to the left atrium MP:0010519 atrioventricular block a partial or complete obstruction of the impulse that originates in the atria or sinoatrial node from reaching or transmitting through the atrioventricular node to the ventricles MP:0010520 sinoatrial block a partial or complete obstruction of the impulse leaving the sinoatrial node preventing it from activating atrial muscle MP:0010521 absent pulmonary artery absence of the artery that arises from the right ventricle and conveys unaerated blood to the lungs MP:0010522 calcified aorta pathologic deposition of calcium salts in the aorta MP:0010523 calcified thoracic aorta pathologic deposition of calcium salts in the part of the aorta that extends from the origin at the heart to the diaphragm MP:0010524 calcified aortic arch pathologic deposition of calcium salts in the convex portion of the aorta between the ascending and descending parts of the aorta MP:0010525 abdominal aorta coarctation a congenital focal constriction of the abdominal aorta MP:0010526 aortic arch coarctation a congenital focal constriction of the aortic arch MP:0010527 bicuspid pulmonary valve the presence of two cusps or leaflets in the pulmonary valve instead of three MP:0010528 pulmonary vein hypoplasia decrease in the number of normal cells in normal arrangement in the pulmonary vein, typically resulting in decreased size MP:0010529 hepatic arteriovenous malformation congenital vascular anomaly in the liver characterized by direct communication between an artery and a vein without passing through the capillary bed MP:0010530 cerebral arteriovenous malformation congenital vascular anomaly in the cerebrum characterized by direct communication between an artery and a vein without passing through the capillary bed MP:0010531 gastrointestinal arteriovenous malformation congenital vascular anomaly in the gastrointestinal system characterized by direct communication between an artery and a vein without passing through the capillary bed MP:0010532 absent atrioventricular node absence of the small nodular mass of specialized muscle fibers located in the interatrial septum near the opening of the coronary sinus MP:0010533 atrioventricular node hypoplasia decrease in the number of normal cells in normal arrangement in the atrioventricular node, typically resulting in decreased size MP:0010534 calcified myocardium pathologic deposition of calcium salts in the myocardium MP:0010535 myocardium steatosis an accumulation of fat deposits in the myocardium MP:0010536 Ebstein's malformation of tricuspid valve a congenital downward displacement of the septal and posterior leaflets of the tricuspid valve into the inlet portion of the right ventricle MP:0010537 tumor regression a decrease in tumor size from a formerly larger state and/or a decrease in the extent of tumors in the body MP:0010538 increased level of surface class II molecules increase in the concentration of major histocompatibility complex class II molecules expressed at the cell surface MP:0010539 decreased level of surface class II molecules reduction in the concentration of major histocompatibility complex class II molecules expressed at the cell surface MP:0010540 long stride length increased average distance between steps MP:0010541 aorta hypoplasia decrease in the number of normal cells in normal arrangement in the aorta, typically resulting in decreased size MP:0010542 right ventricular myocardium hypoplasia decrease in the number of normal cells in normal arrangement in the right ventricular myocardium, typically resulting in decreased size MP:0010543 aorta tubular hypoplasia a diffuse narrowing of the lumen of the aorta MP:0010544 interrupted aorta complete discontinuation or blockage in the aorta MP:0010545 abnormal heart layer morphology any structural anomaly of the laminar structure of the heart MP:0010546 abnormal subendocardium layer morphology any structural anomaly of the layer of loose fibrous tissue located between the endocardium and myocardium which contains the nerves and the impulse-conducting system (Purkinje fibers) of the heart MP:0010547 abnormal mesocardium morphology any structural anomaly of the layer of splanchnic mesoderm supporting the embryonic heart in the pericardial cavity; mesocardium normally regresses before birth MP:0010548 abnormal dorsal mesocardium morphology any structural anomaly of the part of the mesocardium that lies dorsal to the embryonic heart; the dorsal mesocardium gives rise to the transverse sinus of the pericardium in the adult MP:0010549 absent dorsal mesocardium absence of the part of the mesocardium that lies dorsal to the embryonic heart; the dorsal mesocardium gives rise to the transverse sinus of the pericardium in the adult MP:0010551 abnormal coronary vessel morphology any structural anomaly of any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation MP:0010552 abnormal HV interval any anomaly in the time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity MP:0010553 prolonged HV interval increase in the length of time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity MP:0010554 shortened HV interval decrease in the length of time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity MP:0010555 absent epicardium absence of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart MP:0010556 thin ventricle myocardium compact layer reduced thickness of the ventricular portion of the outer, dense layer of the myocardium MP:0010557 dilated pulmonary artery the luminal space of the pulmonary artery is increased in volume or area, usually with an increase of contained fluid MP:0010558 sinus venosus hypoplasia decrease in the number of normal cells in normal arrangement in the sinus venosus, typically resulting in decreased size MP:0010559 heart block a partial or complete obstruction of the propogation of electric impulses through the impulse conduction system of the heart MP:0010560 intraventricular block absent or delayed conduction within the ventricular conducting system or in the ventricular myocardium MP:0010561 absent coronary vessels absence of the arteries and veins that supply blood to the heart or return blood from the heart muscles to the circulation MP:0010562 absent sinus venosus absence of the cavity at the caudal end of the embryonic cardiac tube in which the veins from the intra- and extraembryonic circulatory arcs unite MP:0010563 increased heart right ventricle size greater than average size of the right ventricle MP:0010564 abnormal fetal ductus arteriosus morphology any structural anomaly of the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth MP:0010565 absent fetal ductus arteriosus absence of the fetal vessel that connects the left pulmonary artery with the descending aorta MP:0010566 abnormal left posterior bundle morphology any structural anomaly of the left branch of the atrioventricular bundle that separates at the bundle of His, descends the septal wall of the left ventricle and connects to the terminal Purkinje fiber MP:0010567 abnormal right bundle morphology any structural anomaly of the right branch of the atrioventricular bundle that separates just below the bundle of His, descends the septal wall of the right ventricle and connects to the terminal Purkinje fibers MP:0010568 abnormal bulbus cordis morphology any structural anomaly of a transient fetal dilation of the distal (or cranial) heart tube located where the arterial trunk joins the ventral roots of the aortic arches MP:0010569 papillary muscle hypertrophy increased bulk size of any of the ventricular papillary muscles due to cell enlargement MP:0010570 prolonged ST segment increase in the length of time between the end of S-wave and the beginning of T-wave; reflects the amount of time the ventricles remain electrically depolarized MP:0010571 shortened ST segment reduction in the length of time between the end of S-wave and the beginning of T-wave; reflects the amount of time the ventricles remain electrically depolarized MP:0010572 persistent right dorsal aorta persistence of the right dorsal aorta after development; the right dorsal aorta normally regresses but when it persists, a double aortic arch develops; if the left dorsal aorta also regresses, a right aortic arch forms MP:0010573 left dorsal aorta regression regression of the left dorsal aorta which normally develops into the aortic arch; together with a persistent right dorsal aorta, a right aortic arch forms MP:0010574 dilated aorta the luminal space of the aorta is increased in volume or area, usually with an increase of contained fluid MP:0010575 aortic arch dilation the luminal space of the aortic arch is increased in volume or area, usually with an increase of contained fluid MP:0010576 premature closure of the ductus arteriosus premature regression of the ductus arteriosus that normally regresses into a fibrous cord, the ligamentum arteriousum after birth MP:0010577 abnormal heart right ventricle size anomaly of the average size of the right ventricle compared to the average for a particular population MP:0010578 abnormal heart left ventricle size anomaly of the average size of the left ventricle compared to the average for a particular population MP:0010579 increased heart left ventricle size greater than average size of the left ventricle MP:0010580 decreased heart left ventricle size less than average size of the left ventricle compared to the average for a particular population MP:0010581 abnormal atrium myocardial trabeculae morphology any structural anomaly of the supporting bundles of muscular fibers lining the walls of the atria MP:0010582 abnormal bulbus cordis septation anomaly in the process in which the distal swelling of the primitive heart tube separates into an inferior end, which will form much of the right ventricle, and a superior end, which first form an outflow channel called the conotruncus; the conotruncus will in turn give rise to the more proximal conus cordis and the more distal truncus arteriosus MP:0010583 abnormal conotruncus morphology any structural anomaly of the distal portion of the bulbus cordis that will give rise to the conus cordis, which will give rise to the outflow regions of the ventricles, and the truncus arteriosus which will be divided into proximal ends of the ascending aorta and pulmonary trunk MP:0010584 abnormal conotruncus septation anomaly in the process in which the conotruncus separates into the conus cordis, which will give rise to the outflow regions of the ventricles, and the truncus arteriosus which will be divided into proximal ends of the ascending aorta and pulmonary trunk MP:0010585 abnormal conotruncal ridge morphology any structural anomaly of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum MP:0010586 absent conotruncal ridges absence of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum MP:0010587 conotruncal ridge hypoplasia decrease in the number of normal cells in normal arrangement in the conotruncal ridge, typically resulting in decreased size MP:0010588 conotruncal ridge hyperplasia increase in the number of normal cells in normal arrangement in the conotruncal ridge, typically resulting in increased size MP:0010589 common truncal valve a single outflow tract valve that opens into the truncus arteriosus that is frequently present in cases of truncus arteriosus septation defects MP:0010590 common truncal valve stenosis abnormal constriction or narrowing of the single outflow tract valve that opens into the truncus arteriosus that is frequently present in cases of truncus arteriosus septation defects MP:0010591 enlarged aortic valve an increase in the total area occupied by the aortic valve MP:0010592 abnormal atrioventricular septum morphology any structural anomaly of the wall of the heart that separates the right atrium and left ventricle; and is located just above the septal cusp of the tricuspid valve MP:0010593 thick aortic valve cusps an increase in the ratio of the aortic valve cusp thickness to the aortic wall thickness MP:0010594 thick aortic valve an increase in the ratio of the aortic valve wall thickness to the aortic wall thickness MP:0010595 abnormal aortic valve cusp morphology any structural anomaly of the three fibrous triangular components and associated flap of the aortic valve MP:0010596 unicuspid aortic valve the presence of one cusp and associated flap in the aortic valve instead of three MP:0010597 absent aortic valve cusps absence of the three fibrous triangular components and associated flaps of the aortic valve MP:0010598 abnormal aortic valve annulus morphology any structural anomaly of the fibrous ring of the aortic valve that attaches the cusps of aortic valve to the wall of left ventricle, and which consists of portions of the fibrous scallops of the posterior, right anterior and left anterior cusps MP:0010599 abnormal fetal atrioventricular canal septation anomaly in the process by which the dorsal and ventral endocardial cushions develop in the walls of the common atrioventricular canal, grow toward each other and fuse, dividing the common atrioventricular canal into right and left atrioventricular canals and the atrioventricular septum MP:0010600 enlarged pulmonary valve an increase in the total area occupied by the pulmonary valve MP:0010601 thick pulmonary valve an increase in the ratio of the pulmonary valve wall thickness to the pulmonary artery wall thickness MP:0010602 abnormal pulmonary valve cusp morphology any structural anomaly of the three fibrous triangular components and associated flap of the pulmonary valve MP:0010603 unicuspid pulmonary valve the presence of one cusp and associated flap in the pulmonary valve instead of three MP:0010604 absent pulmonary valve cusps absence of the three fibrous triangular components and associated flaps of the pulmonary valve MP:0010605 thick pulmonary valve cusps an increase in the ratio of the pulmonary valve cusp thickness to the pulmonary artery wall thickness MP:0010606 abnormal pulmonary valve annulus morphology any structural anomaly of the fibrous ring of the pulmonary valve that attaches the cusps of pulmonary valve to the wall of right ventricle, and which consists of portions of the fibrous scallops of the anterior, right posterior and left posterior cusps MP:0010607 common atrioventricular valve the presence of a single atrioventricular valve instead of both a mitral and tricuspid valve, most commonly due to incomplete or failure of fetal atrioventricular canal septation MP:0010608 abnormal chordae tendineae morphology any structural anomaly of the tendinous strands that connect the papillary muscles on the wall of the ventricles to the leaflets of the atrioventricular valves; the chordae tendineae serve to prevent the AV valves from prolapsing back into the atria MP:0010609 absent chordae tendineae absence of the tendinous strands that connect the papillary muscles on the wall of the ventricles to the leaflets of the atrioventricular valves; the chordae tendineae serve to prevent the AV valves from prolapsing back into the atria MP:0010610 patent aortic valve the aortic valve remains open during the cardiac cycle MP:0010611 patent pulmonary valve the pulmonary valve remains open during the cardiac cycle MP:0010612 muscular subaortic stenosis abnormal narrowing, constriction or obstruction of the left ventricular outflow tract due to hypertrophy of the interventricular septum, which results in obstruction to blood flow MP:0010613 abnormal mitral valve annulus morphology any structural anomaly of the fibrous ring of the mitral valve that attaches the cusps of mitral valve to the heart, and which consists of portions of the fibrous scallops of the anterior and posterior cusps MP:0010614 abnormal mitral valve cusp morphology any structural anomaly of the two fibrous components and associated flaps of the mitral valve MP:0010615 unicuspid mitral valve the presence of one cusp and associated flap in the mitral valve instead of two MP:0010616 absent mitral valve cusps absence of the two fibrous components and associated flaps of the mitral valve MP:0010617 thick mitral valve cusps an increase in the ratio of the mitral valve cusp wall thickness to the atrioventricular septum thickness MP:0010618 enlarged mitral valve an increase in the total area occupied by the mitral valve MP:0010619 patent mitral valve the mitral valve remains open during the cardiac cycle MP:0010620 thick mitral valve an increase in the ratio of the mitral valve wall thickness to the atrioventricular septum thickness MP:0010621 abnormal tricuspid valve annulus morphology any structural anomaly of the fibrous ring of the tricuspid valve that attaches the cusps of tricuspid valve to the heart, and which consists of portions of the fibrous scallops of the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp) MP:0010622 abnormal tricuspid valve cusp morphology any structural anomaly of the three fibrous triangular components and associated flaps of the tricuspid valve MP:0010623 bicuspid tricuspid valve the presence of two cusps and associated flaps in the tricuspid valve instead of three MP:0010624 unicuspid tricuspid valve the presence of one cusp and associated flap in the tricuspid valve instead of three MP:0010625 absent tricuspid valve cusps absence of the three fibrous triangular components and associated flaps of the tricuspid valve MP:0010626 thick tricuspid valve cusps an increase in the ratio of the tricuspid valve cusp wall thickness to the atrioventricular septum thickness MP:0010627 enlarged tricuspid valve an increase in the total area occupied by the tricuspid valve MP:0010628 patent tricuspid valve the tricuspid valve remains open during the cardiac cycle MP:0010629 thick tricuspid valve an increase in the ratio of the tricuspid valve wall thickness to the atrioventricular septum thickness MP:0010630 abnormal cardiac muscle tissue morphology any structural anomaly of the involuntary muscle comprising the myocardium of the heart and the walls of the pulmonary veins and superior vena cava; cardiac muscle is striated and multinucleate, and the cardiomyocytes branch and are joined to one another via intercalated discs MP:0010631 increased Q wave amplitude increase in the size (height or maximum displacement) of the downward deflection in the ECG occurring after the PR interval that represents depolarization of the interventricular septum MP:0010632 cardiac muscle necrosis morphological changes resulting from pathological death of cardiomyocytes or a portion of the cardiac muscle tissue; usually due to irreversible damage MP:0010633 myocardium hypertrophy an increase in size of the myocardium, not due to increased cell number MP:0010634 increased QRS amplitude increased in the size (height or maximum displacement) of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction, suggesting ventricular excitation defects MP:0010635 aorta pulmonary collateral arteries small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus MP:0010636 bundle branch block intraventricular block resulting from an interruption or partial or complete block of conduction in one of the two atrioventricular bundle branches; a prolonged QRS complex seen on an ECG indicates defects in bundle branch conduction; blocks in each branch result in a distinct QRS ECG waveform morphology MP:0010637 sinus bradycardia a type of decreased heart rhythm in which fewer than the normal number of impulses arise from the sinoatrial (SA) node MP:0010638 absent intercalated disks absence of the electron dense junctional complex, at the end to end contacts of cardiac muscle cells, that contains two types of membrane junctions i.e. gap junctions and desmosomes MP:0010639 abnormal tumor pathology any changes associated with the chemistry, immunohistology, cellular alterations or environmental interactions of tumors compared to the expected state MP:0010640 ventricular myocardium compact layer hypoplasia decrease in the number of normal cells in normal arrangement in the ventricular myocardium compact layer, typically resulting in decreased size MP:0010641 descending aorta stenosis diffuse constriction or narrowing of the descending aorta MP:0010642 absent third pharyngeal arch absence of the structure of the third arch which contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus MP:0010643 absent fourth pharyngeal arch absence of the structure of the fourth arch which contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus MP:0010644 absent sixth pharyngeal arch absence of the structure of the sixth arch which contributes to the development of the sternocleidomastoid and trapezius muscles MP:0010645 failure of conotruncal ridge closure failure of the conotruncal ridges to develop from the conotruncus, meet at the midline and fuse to form the conotruncal septum MP:0010646 absent pulmonary vein absence of the veins that return oxygenated blood from the lungs to the left atrium of the heart MP:0010647 heart left atrium hypoplasia decrease in the number of normal cells in normal arrangement in the heart left atrium, typically resulting in decreased size MP:0010648 heart right atrium hypoplasia decrease in the number of normal cells in normal arrangement in the heart right atrium, typically resulting in decreased size MP:0010649 dilated pulmonary trunk the luminal space of the pulmonary trunk is increased in volume or area, usually with an increase of contained fluid MP:0010650 abnormal aorticopulmonary septum morphology any structural anomaly of the spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta MP:0010651 aorticopulmonary septal defect an abnormal communication in the septum between the aorta and pulmonary artery, resulting from incomplete separation of the common tube of the truncus arteriosus and the aorticopulmonary trunk MP:0010652 absent aorticopulmonary septum absence of the spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta MP:0010653 abnormal Wallerian degeneration any anomaly in the process of progressive degeneration of axons distal to an injury MP:0010654 slow Wallerian degeneration an increase in the length of time for the process of progressive degeneration of axons distal to an injury to occur MP:0010655 absent cardiac jelly absence of the gelatinous noncellular material between the endothelial lining and the myocardial layer of the developing heart MP:0010656 thick myocardium increased thickness of the heart muscle layer MP:0010657 absent pulmonary trunk absence of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery MP:0010658 thoracic aorta aneurysm a protruding sac formed by the dilation of the wall of the part of the aorta that extends from the origin at the heart to the diaphragm, resulting from a weakening of the vessel wall MP:0010659 abdominal aorta aneurysm a protruding sac formed by the dilation of the wall of the part of the descending aorta that begins at the diaphragm and continues to the point of the common iliac arteries, resulting from a weakening of the vessel wall MP:0010660 descending thoracic aorta aneurysm a protruding sac formed by the dilation of the wall of the of the part of the aorta that extends from the arch of the aorta to the diaphragm, resulting from a weakening of the vessel wall MP:0010661 ascending aorta aneurysm a protruding sac formed by the dilation of the wall of the of the part of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch, resulting from a weakening of the vessel wall MP:0010662 abnormal intersomitic artery morphology any structural anomaly of the small branching sprouts of the dorsal aorta that grow across the medial surface of the somite, turn right angles to grow over that surface and then fuse with other sprouts and form the vertebral arteries adjacent to the neural tube; the intersomitic arteries supply the body wall and persist in the adult as the posterior intercostal, subcostal and the lumbar arteries MP:0010663 abnormal brachiocephalic trunk morphology any structural anomaly of the short first aortic arch branch which divides into the right subclavian artery and the right common carotid artery MP:0010664 abnormal vitelline artery morphology any structural anomaly of the paired arteries that carry blood to the yolk sac from the dorsal aorta; the vitelline arteries give rise to the celiac artery, superior mesenteric artery, and inferior mesenteric artery in the adult MP:0010665 persistent vitelline artery failure of the vitelline arteries to regress and remodel into the celiac artery, superior mesenteric artery, and inferior mesenteric artery in the adult MP:0010666 abnormal vitelline vein morphology any structural anomaly of the paired veins that carry blood from the yolk sac back to the embryo MP:0010667 abnormal umbilical vein morphology any structural anomaly of the vein that returns oxygenated blood from the placenta to the fetus through the umbilical cord MP:0010668 abnormal hepatic portal vein morphology any structural anomaly of the wide short vein formed from the confluence of the superior mesenteric, inferior mesenteric and splenic veins, and then divides into the right and left branches which ramify with the liver; the hepatic portal vein carries venous blood from the GI tract, spleen and pancreas to the liver MP:0010669 abnormal activation-induced B cell apoptosis any anomaly in the process in which B cell apoptosis occurs upon engagement of either the B cell receptor or CD40, but not both; the engagement leads to expression of fas or related receptors that make the B cell susceptible to fas-ligand mediated death MP:0010670 abnormal activation-induced cell death of T cells any anomaly in the process of the type of T cell apoptosis that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen and is triggered by T cell receptor stimulation and signals transmitted via various surface-expressed members of the TNF receptor family such as Fas ligand, Fas, and TNF and the p55 and p75 TNF receptors MP:0010671 abnormal Tc17 cell morphology any structural anomaly of a CD8-positive, alpha-beta positive T cell with the phenotype CCR6-positive, CCR5-high, CD45RA-negative, and secreting IL-17 and some IFNg MP:0010672 increased Tc17 cell number increased cell number of a CD8-positive, alpha-beta positive T cell with the phenotype CCR6-positive, CCR5-high, CD45RA-negative, and secreting IL-17 and some IFNg MP:0010673 decreased Tc17 cell number reduced cell number of a CD8-positive, alpha-beta positive T cell with the phenotype CCR6-positive, CCR5-high, CD45RA-negative, and secreting IL-17 and some IFNg MP:0010674 increased activation-induced B cell apoptosis increased frequency of B cell apoptosis that occurs upon engagement of either the B cell receptor or CD40, but not both; the engagement leads to expression of fas or related receptors that make the B cell susceptible to fas-ligand mediated death MP:0010675 decreased activation-induced B cell apoptosis decreased frequency of B cell apoptosis that occurs upon engagement of either the B cell receptor or CD40, but not both; the engagement leads to expression of fas or related receptors that make the B cell susceptible to fas-ligand mediated death MP:0010676 increased activation-induced cell death of T cells increased frequency of the type of T cell apoptosis that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen and is triggered by T cell receptor stimulation and signals transmitted via various surface-expressed members of the TNF receptor family such as Fas ligand, Fas, and TNF and the p55 and p75 TNF receptors MP:0010677 decreased activation-induced cell death of T cells decreased frequency of the type of T cell apoptosis that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen and is triggered by T cell receptor stimulation and signals transmitted via various surface-expressed members of the TNF receptor family such as Fas ligand, Fas, and TNF and the p55 and p75 TNF receptors MP:0010678 abnormal skin adnexa morphology any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails MP:0010679 abnormal arrector pilli muscle morphology any structural anomaly of the bundles of smooth muscle fibers that connect the hair follicle with the papillary layer of the dermis, and serve to pull hair shafts erect MP:0010680 abnormal skin adnexa physiology any functional anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails MP:0010681 abnormal hair follicle bulb morphology any structural anomaly of the thickened portion of the proximal portion of the hair follicle that contains rapidly proliferating matrix cells, melanocytes and outer root sheath cells MP:0010682 abnormal hair follicle infundibulum morphology any structural anomaly of the most proximal part of the hair follicle relative to the epidermis, extending from the sebaceous duct to the epidermal surface MP:0010683 dilated hair follicle infundibulum the luminal space of one or more hair follicle infundibuli is increased in volume or area, sometimes with an increase of contained fluid or sebum MP:0010684 abnormal hair follicle outer root sheath morphology any structural anomaly of the outermost layer of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb MP:0010685 abnormal hair follicle inner root sheath morphology any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer and the inner root sheath cuticle MP:0010686 abnormal hair follicle matrix region morphology any structural anomaly of the bulb region adjacent to the dermal papilla that contains rapidly proliferating matrix cells that give rise to the various cell lineages of the hair shaft and inner root sheath MP:0010687 absent hair follicle dermal papilla absence of the mesodermal signaling center of the hair follicle consisting of closely packed specialized mesenchymal fibroblasts MP:0010688 hair follicle outer root sheath hyperplasia increase in the number of normal cells in normal arrangement in the hair follicle outer root sheath, typically resulting in increased size MP:0010689 thin hair follicle outer root sheath reduced thickness of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb MP:0010690 thick hair follicle outer root sheath increased thickness of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb MP:0010691 hair follicle inner root sheath hyperplasia increase in the number of normal cells in normal arrangement in the hair follicle inner root sheath, typically resulting in increased size MP:0010692 thick hair follicle inner root sheath increased thickness of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath MP:0010693 thin hair follicle inner root sheath reduced thickness of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath MP:0010694 abnormal hair follicle isthmus morphology any structural anomaly of the middle part of the hair follicle that extends from the sebaceous duct to the bulge MP:0010695 abnormal blood pressure regulation any anomaly in the process that modulates the force with which blood travels through the circulatory system, which is controlled by a balance of processes that increase pressure and decrease pressure MP:0010696 increased siderocyte number the presence of abnormal red blood cells that have iron granule deposits that are not part of the hemoglobin MP:0010697 abnormal systemic arterial blood pressure regulation anomaly in the process that modulates the force with which blood travels through the systemic arterial circulatory system MP:0010698 abnormal impulsive behavior control any anomaly in the ability of an individual to exert restraint over behavior MP:0010699 dilated hair follicle the luminal space of one or more of the hair follicles is increased in volume or area, sometimes with an increase of contained fluid or sebum MP:0010700 hair follicle comedo a dilated or widened hair follicle filled with keratin squamae (skin debris), bacteria, and/or sebum (oil) MP:0010701 fusion of atlas and odontoid process the large protuberance that projects upward from the cervical axis (C2), around which the cervical atlas normally rotates, is instead fused to elements of the atlas; the odontoid process may or may not remain attached to the axis MP:0010702 split cervical atlas the first (topmost, C1) cervical vertebra is divided into two branches by a median cleft MP:0010703 split cervical axis the second cervical vertebra (C2) is divided into two branches by a median cleft MP:0010704 abnormal optic canal morphology any structural anomaly of the short canal through the orbitosphenoid bone at the apex of the orbit that gives passage to the optic nerve and the ophthalmic artery; the optic foramen is the opening to the optic canal MP:0010705 absent metoptic pillar absence of the posterior border of the optic nerve foramen MP:0010706 ventral rotation of lens a circular shift toward the ventral pole in the position of the equator of the lens relative to the optic nerve exit point MP:0010707 decreased ventral retina size decreasd size of the ventral portion of the retina MP:0010708 absent iris stroma absence of the lamellated vascular connective tissue of the iris MP:0010709 absent eye anterior chamber absence of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens MP:0010710 absent sclera absence of the fibrous, outer envelope of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea MP:0010711 persistent hyperplastic primary vitreous persistence of the embryonic fibrovascular mesodermal tissue located between the optic cup and lens vesicle that normally regresses during the development of the vitreous body MP:0010712 absent nasolacrimal duct absence of the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity MP:0010713 corneal-lenticular stalk persistent central adhesion between the lens and the cornea MP:0010714 iris coloboma congenital defect of the iris in which some part of the structure is absent MP:0010715 retina coloboma congenital defect of the retina in which some part of the structure is absent MP:0010716 optic disk coloboma congenital defect of the optic disk in which some part of the structure is absent MP:0010717 optic nerve coloboma congenital defect of the optic nerve in which some part of the structure is absent MP:0010718 choroid coloboma congenital defect of the choroid and retinal pigment epithelium in which some part of the structures are absent, exposing the sclera; the defect is usually situated below the optic disk in the region of fetal (choroid) fissure MP:0010719 ciliary body coloboma congenital defect of the ciliary body in which some part of the structure is absent MP:0010720 absent sublingual duct absence of the canals that drain the sublingual gland MP:0010721 short sublingual duct decreased length of the canals that drain the sublingual gland MP:0010722 persistent cervical thymus the solid lobe of the thymus fails to descend to the mediastinum MP:0010723 paternal effect expression of a phenotypic trait in a male animal's offspring that is dependent on the paternal genotype MP:0010724 thick interventricular septum increased thickness of the wall between the two lower chambers of the heart MP:0010725 thin interventricular septum decreased thickness of the wall between the two lower chambers of the heart MP:0010726 abnormal collateral sprouting aberrant response of a neuron to form new neuritic processes (sprouts) that emerge from the nerve fibers or terminal arborizations in response to nerve injury (such as section or denervation), application of neurotoxin, or target tissue atrophy (usually due to disease) MP:0010727 increased glioblastoma incidence greater than the expected number of a fast-growing type of central nervous system tumor that forms from glial tissue of the brain and spinal cord and has cells that look very different from normal cells; glioblastoma usually occurs in adults and affects the brain more often than the spinal cord MP:0010728 fusion of atlas and occipital bones union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure MP:0010729 absent arcus anterior absence of the arch that connects the lateral masses of the atlas anteriorly and articulates with the anterior articular facet of the dens of the axis MP:0010730 absent odontoid process absence of the large protuberance that projects upward from the cervical axis, around which the cervical atlas rotates MP:0010731 absent ventral tubercle of atlas absence of the conical ventral projection on the arch of the atlas MP:0010732 abnormal node of Ranvier morphology any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon MP:0010733 abnormal axon initial segment morphology any structural anomaly of the short unmyelinated axon segment adjacent to the cell soma where voltage gated channels accumulate and axon potential initiation usually occurs MP:0010734 abnormal paranode morphology any structural anomaly of the axon region immediately adjacent to nodes of Ranvier, where a series of cytoplasmic loops from the overlying glial cell form septate-like junctions with the axon; the axoglial junctions act as a diffusion barrier between the node and internode MP:0010735 abnormal paranodal axoglial junction morphology any structural anomaly of the structure in which the myelin sheath attaches to the axon at each end of each myelin segment; the axoglial junctions act as a diffusion barrier between the node and internode, maintaining domain-specific axolemmal membrane components MP:0010736 abnormal extraembryonic ectoderm morphology any structural anomaly of the layer of the ectoderm of the extraembryonic tissue MP:0010737 abnormal juxtaparanode morphology any structural anomaly of the region of an axon near a node of Ranvier that is between the paranode axoglial junction and the internode regions; the juxtaparanode axolemma is enriched in potassium channels MP:0010738 abnormal internode morphology any structural anomaly of the intervening axon segment that is located between the juxtaparanodes and is surrounded by a single compact myelin sheath MP:0010739 abnormal axolemma morphology any structural anomaly of the plasma membrane of an axon MP:0010740 abnormal dendritic cell chemotaxis anomaly in the movement of a dendritic cell in response to an external stimulus MP:0010741 abnormal melanocyte proliferation anomaly in the ability of a melanocyte cell population to undergo expansion by cell division MP:0010742 increased Schwann cell number greater than normal number of cells that sheath the axons of the peripheral nervous system MP:0010743 delayed cranial suture closure late onset of closure of one or more of the joints (sutures) between the bones of the skull MP:0010744 abnormal cervical flexure morphology any structural anomaly in the ventrally concave flexure of the embryonic brain occurring at the junction of hindbrain and spinal cord MP:0010745 abnormal pre-Botzinger complex morphology any structural anomaly of the group of interneurons within the medulla oblongata's ventral respiratory group that are important for the generation of ventilatory (inspiratory) rhythmogenesis MP:0010746 abnormal pre-Botzinger complex physiology any functional anomaly of the group of interneurons within the medulla oblongata's ventral respiratory group that are important for the generation of ventilatory (inspiratory) rhythmogenesis MP:0010747 abnormal enamel organ morphology any structural anomaly of the circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth MP:0010748 abnormal visual evoked potential anomaly in the electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; may be used to evaluate optic nerve damage or visual perception MP:0010749 absent visual evoked potential absence of a characteristic electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; absence may indicate blindness MP:0010750 increased susceptibility to parasitic infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a parasitic invasion or from components of or toxins produced by parasites MP:0010751 decreased susceptibility to parasitic infection induced morbidity/mortality decreased likelihood that an organism will display the expected moribund state caused by a parasitic invasion or from components of or toxins produced by parasites MP:0010752 impaired mucociliary clearance reduced ability to remove mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands MP:0010753 improved mucociliary clearance enhanced ability to remove mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands MP:0010754 abnormal heart left ventricle pressure any anomaly in the pressure within the left cardiac ventricle MP:0010755 abnormal heart right ventricle pressure any anomaly in the pressure within the right cardiac ventricle MP:0010756 decreased right ventricle peak pressure decrease in the difference between right ventricular systolic and diastolic pressures MP:0010757 decreased right ventricle diastolic pressure decrease in the pressure of the right ventricle between heart beats when the heart is relaxed MP:0010758 increased right ventricle systolic pressure increase in the pressure in the right ventricle as the heart contracts and pumps blood into the arteries MP:0010759 decreased right ventricle systolic pressure decrease in the pressure in the right ventricle as the heart contracts and pumps blood into the arteries MP:0010760 abnormal macrophage chemotaxis anomaly in the accumulation of macrophages in a specific location in response to a wide variety of substances released at the sites of inflammatory reactions MP:0010761 abnormal microglial cell chemotaxis anomaly in the movement of a microglial cell guided by a specific chemical concentration gradient MP:0010762 abnormal microglial cell activation any anomaly in change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form MP:0010763 abnormal hematopoietic stem cell physiology any functional anomaly of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages MP:0010764 abnormal granulocyte chemotaxis anomaly in the movement of a granulocyte guided by a specific chemical concentration gradient MP:0010765 impaired granulocyte chemotaxis reduced ability in the movement of a granulocyte guided by a specific chemical concentration gradient MP:0010766 abnormal NK cell physiology any functional anomaly of a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells MP:0010767 abnormal female meiosis I arrest any anomaly in the process in which oocytes stop at the diplotene stage of meiosis I and lie dormant, often for long periods of time MP:0010768 mortality/aging the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span MP:0010769 abnormal survival deviation from the expected viability or life span of an organism MP:0010770 preweaning lethality death anytime between fertilization and weaning age (Mus: approximately 3-4 weeks of age) MP:0010771 integument phenotype the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan MP:0010772 abnormal pollex morphology any structural anomaly of the first or primary digit on the radial side of the hand MP:0010773 supernumerary molars increased number of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface MP:0010774 abnormal lymph node follicular mantle morphology any structural anomaly of the part of the secondary follicle in which naive B cells reside along with some helper T cells, macrophages and follicular dendritic cells; these are displaced by the expanding germinal centre and form a 'mantle' around it MP:0010775 abnormal scaphoid morphology any structural anomaly of the bone of the hand located at the radial side of the carpus and which articulates with the radius, trapezium, trapezoideum, capitate, and lunate bones MP:0010776 abnormal placenta metrial gland morphology any structural anomaly in the group of granular epithelial cells in the uterine muscle beneath the placenta that develops during pregnancy in rodents and some other species, but not in primates MP:0010777 absent placenta metrial gland absence of the group of granular epithelial cells in the uterine muscle beneath the placenta that develops during pregnancy in rodents and some other species, but not in primates MP:0010778 abnormal stomach fundus morphology any structural anomaly of the region of the stomach that lies above the cardiac notch that functions to store undigested food and to collect stomach gases produced by chemical digestion MP:0010779 abnormal stomach muscularis externa morphology any structural anomaly of the smooth muscle layer of the stomach wall that functions to churn and mix food and gastric secretions as well as to move food along the digestive tract to the intestines MP:0010780 abnormal stomach smooth muscle circular layer morphology any structural anomaly of the middle layer of the muscularis; it is continuous with the circular layer of the esophagus, but is absent in the fundus and lies concentric to the longitudinal axis of the stomach; the circular layer is normally tonically constricted forming a functional pyloric sphincter, which controls the movement of chyme into the duodenum MP:0010781 pyloric sphincter hypertrophy increase in the bulk size of the thick circular layer of gastric musculature encircling the gastroduodenal junction at the gastric outlet of the stomach, due to cell enlargement or accumulation of fluids MP:0010782 stomach smooth muscle circular layer hypertrophy increase in the bulk size of the middle layer of the muscularis due to cell enlargement or accumulation of fluids MP:0010783 abnormal stomach wall morphology any structural anomaly of the layered structure that makes up the stomach, consisting of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between MP:0010784 abnormal forestomach morphology any structural anomaly of the distinct rodent non-glandular region of the stomach which is demarcated from the glandular stomach by the limiting ridge (margo plicatus); the forestomach accounts for about 60% (rat) and 70% (mouse) of the stomach volume and receives the esophagus at the cardiac antrum; the wall of the forestomach consists of, from inside to outside, stratified squamous epithelium, the lamina propria (epithelium and lamina propria form the mucosa), the muscularis mucosae, the submucosa, the muscularis interna and externa (inner circular and outer longitudinal layers of smooth muscle), and the serosa MP:0010785 abnormal stomach pyloric region morphology any structural anomaly of the stomach tissue region surrounding and controlling the distal outlet of the stomach, which opens into the duodenum MP:0010786 stomach fundus hypertrophy increase in the bulk size of the stomach fundus due to cell enlargement or accumulation of fluids MP:0010787 gastric cyst presence of one or more abnormal membranous sacs in the wall of the stomach MP:0010788 stomach hypoplasia decrease in the number of normal cells in normal arrangement in the stomach, typically resulting in decreased size MP:0010789 abnormal stomach mesentery morphology any structural anomaly of the double layer of peritoneum that encloses the stomach and connects it to the abdominal wall MP:0010790 abnormal stomach pyloric antrum morphology any structural anomaly of the area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells MP:0010791 abnormal pyloric canal morphology any structural anomaly of the short narrow part of the stomach extending from the pyloric antrum to the pyloric sphincter MP:0010792 abnormal stomach mucosa morphology any structural anomaly of the mucous layer of the stomach wall which contains the gastric pits and glands, and consists of epithelium, lamina propria, and the muscularis mucosae MP:0010793 abnormal stomach serosa morphology any structural anomaly of the outermost layer of the stomach wall, consisting of layers of connective tissue continuous with the peritoneum MP:0010794 abnormal stomach submucosa morphology any structural anomaly of the fibrous connective tissue layer beneath the stomach mucosa MP:0010795 abnormal cardiac gastric gland morphology any structural anomaly of the gastric glands in the cardiac region of the stomach; cardiac glands are fewer in number than in the fundus and body, and secrete mucin which coats the stomach and protects it MP:0010796 abnormal intermediate gastric gland morphology any structural anomaly of any of the branched tubular glands in the mucosa of the fundus and body of the stomach that secrete most of the digestive substances secreted by the stomach MP:0010797 abnormal pyloric gastric gland morphology any structural anomaly of the gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin MP:0010798 abnormal stomach cardiac region morphology any structural anomaly of the stomach region where the esophagus empties into the stomach MP:0010799 stomach mucosa hyperplasia increase in the number of normal cells in normal arrangement in the stomach mucosa, typically resulting in increased thickness MP:0010800 abnormal submucous nerve plexus morphology any structural anomaly of the gangliated plexus of unmyelinated nerve fibers that ramify the stomach and intestinal submucosa MP:0010801 abnormal myenteric nerve plexus morphology any structural anomaly of the plexus of unmyelinated nerve fibers and postganglionic autonomic cell bodies lying in the muscular coat of the esophagus, stomach and intestines that communicate with the submucosal, subserosal and enteric plexuses MP:0010802 abnormal intestinal enteroendocrine cell morphology any structural anomaly of the various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the intestinal tract MP:0010803 abnormal stomach enteroendocrine cell morphology any structural anomaly of the various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the stomach MP:0010804 abnormal stomach smooth muscle inner oblique layer morphology any structural anomaly of the innermost layer of the muscularis; it is not present in all sections of the stomach but is clearly seen in the fundus and near the lesser curvature of the corpus; the oblique fibers disappear distally (towards the pyloric antrum); the oblique layer is responsible for creating the motion that churns and physically breaks down the food MP:0010805 abnormal stomach smooth muscle outer longitudinal layer morphology any structural anomaly of the most superficial layer of the muscularis; it has two sections, a longitudinal layer that is common with the esophagus and ends in the corpus, and a longitudinal layer that originates in the corpus and spreads into the duodenum MP:0010806 abnormal stomach muscularis mucosa morphology any structural anomaly of the thin layer of smooth muscle in the mucosal layer of the stomach that functions to agitate the surface area stomach mucosa by moving the villi back and forth MP:0010807 abnormal stomach position or orientation the stomach is displaced from the normal left-sided position and/or orientation MP:0010808 right-sided stomach stomach is present on the right side of the body instead of the left MP:0010809 abnormal club cell morphology any structural anomaly of the rounded, club-shaped, nonciliated cell protruding between ciliated cells in bronchiolar epithelium, believed to be secretory in function MP:0010810 increased type II pneumocyte number greater number of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored MP:0010811 decreased type II pneumocyte number reduced number of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored MP:0010812 absent type II pneumocytes absence of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored MP:0010813 abnormal alveolar lamellar body morphology any structural anomaly of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant MP:0010814 absent alveolar lamellar bodies absence of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant MP:0010815 enlarged alveolar lamellar bodies increased size of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant MP:0010816 decreased type I pneumocyte number reduced number of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange MP:0010817 absent type I pneumocytes absence of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange MP:0010818 adhesive atelectasis alveolar collapse in the presence of patent airways, especially when surfactant is inactivated or absent, and is seen in newborn respiratory distress syndrome, acute radiation pneumonitis, or viral pneumonia MP:0010819 primary atelectasis nonexpansion of the lungs after birth, seen in stillborn organisms and in live born animals that do not establish respiration MP:0010820 abnormal pleura morphology any structural anomaly of the serous membrane surrounding the lungs and lining the walls of the pleural cavity MP:0010821 abnormal visceral pleura morphology any structural anomaly of the pleura layer attached to and covering the lungs, and which intercalates into the fissures between the lobes MP:0010822 pneumothorax free air or gas is present in the pleural cavity MP:0010823 abnormal parietal pleura morphology any structural anomaly of the part of the pleura that lines and is attached to the wall of the thoracic cavity MP:0010824 absent right lung accessory lobe absence of the right lung lobe which lies against the diaphragm and has a considerable volume residing in the left hemi-thorax MP:0010825 abnormal lung saccule morphology any structural anomaly of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth MP:0010826 absent lung saccules absence of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth MP:0010827 small lung saccule reduced size of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth MP:0010828 abnormal bronchioalveolar stem cell morphology any structural anomaly of a respiratory stem cell found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury MP:0010829 increased bronchioalveolar stem cell number greater numbers of a respiratory stem cell found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury MP:0010830 decreased bronchioalveolar stem cell number reduced numbers of a respiratory stem cell found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury MP:0010831 lethality, incomplete penetrance the appearance of lower than Mendelian ratios of offspring of a given genotype due to death of some, but not all of the organisms MP:0010832 lethality during fetal growth through weaning death anytime between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age) MP:0010833 abnormal memory T cell morphology any structural anomaly of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive MP:0010834 abnormal CD4-positive, alpha-beta memory T cell morphology any structural anomaly of a CD4-positive, alpha-beta long-lived T cell with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high MP:0010835 increased CD4-positive, alpha-beta memory T cell number increased number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high MP:0010836 decreased CD4-positive, alpha-beta memory T cell number reduced number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high MP:0010837 abnormal CD8-positive, alpha-beta memory T cell morphology any structural anomaly of a CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high MP:0010838 increased CD8-positive, alpha-beta memory T cell number increased number of CD8-positive, alpha-beta T cells with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high MP:0010839 decreased CD8-positive, alpha-beta memory T cell number decreased number of CD8-positive, alpha-beta T cells with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high MP:0010840 abnormal central memory CD4-positive, alpha-beta T cell morphology any structural anomaly of a CD4-positive, alpha-beta memory T cell with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative MP:0010841 increased central memory CD4-positive, alpha-beta T cell number increased number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative MP:0010842 decreased central memory CD4-positive, alpha-beta T cell number reduced number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative MP:0010843 abnormal effector memory CD4-positive, alpha-beta T cell morphology any structural anomaly of a CD4-positive, alpha-beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative MP:0010844 increased effector memory CD4-positive, alpha-beta T cell number increased number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative MP:0010845 decreased effector memory CD4-positive, alpha-beta T cell number reduced number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative MP:0010846 abnormal central memory CD8 positive, alpha-beta T cell morphology any structural anomaly of a CD8-positive, alpha beta memory T cell with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative MP:0010847 increased central memory CD8 positive, alpha-beta T cell number increased number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative MP:0010848 decreased central memory CD8 positive, alpha-beta T cell number reduced number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative MP:0010849 abnormal effector memory CD8-positive, alpha-beta T cell number any structural anomaly of a CD8-positive, alpha beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative MP:0010850 increased effector memory CD8-positive, alpha-beta T cell number increased number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative MP:0010851 decreased effector memory CD8-positive, alpha-beta T cell number reduced number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative MP:0010852 absent epidermal lamellar bodies absence of a membrane-bounded organelle, specialized for the storage and secretion various substances (glycoproteins and acid phosphates) which are arranged in the form of tightly packed, concentric, membrane sheets or lamellae MP:0010853 abnormal lung position or orientation the lung is displaced from the normal position and/or has an altered left/right orientation MP:0010854 lung situs inversus anomaly in the asymmetry of the lung such that lung lobes on both the left and right side have the morphology normally seen on the opposite side of the body MP:0010855 pulmonary hyperemia increased amount of blood flow into the lungs MP:0010856 dilated respiratory conducting tube expansion or widening of the lumen of one or more of the tubes of the respiratory system that allow passage of air from the trachea to the alveoli of the lungs MP:0010857 pulmonary necrosis morphological changes resulting from pathological death of pulmonary tissue; usually due to irreversible damage MP:0010858 pulmonary epithelial necrosis morphological changes resulting from pathological death of pulmonary epithelial tissue; usually due to irreversible damage MP:0010859 abnormal anterior commissure pars anterior morphology any structural anomaly of the small horseshoe-shaped anterior part of the anterior commissure which pass into the two olfactory bulbs MP:0010860 abnormal anterior commissure pars posterior morphology any structural anomaly of the large posterior part of the anterior commissure which connects the right and left temporal lobes MP:0010861 increased respiratory mucosa goblet cell number greater number of the cells of the respiratory epithelial lining that produce and secrete mucins MP:0010862 decreased respiratory mucosa goblet cell number reduced number of the cells of the respiratory epithelial lining that produce and secrete mucins MP:0010863 absent respiratory mucosa goblet cells absence of the cells of the respiratory epithelial lining that produce and secrete mucins MP:0010864 abnormal enamel knot morphology any structural anomaly of a transient cluster of cells in the central part of the dental epithelium facing the dental mesenchyme, which acts as an organizing center, providing positional information for tooth morphogenesis and regulating the growth of tooth cusps MP:0010865 prenatal growth retardation slow or limited development during the prenatal period MP:0010866 abnormal prenatal body size anomaly in the average body weight, height and/or length of an organism compared to controls at anytime prior to birth MP:0010867 abnormal bone trabecula morphology any structural anomaly of the network of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force MP:0010868 increased bone trabecula number increased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force MP:0010869 decreased bone trabecula number decreased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force MP:0010870 absent bone trabeculae absence of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force MP:0010871 abnormal trabecular bone mass anomaly in the total amount of trabecular bone tissue contained in the skeleton MP:0010872 increased trabecular bone mass greater total amount of trabecular bone tissue contained in the skeleton MP:0010873 decreased trabecular bone mass reduced total amount of trabecular bone tissue contained in the skeleton MP:0010874 abnormal bone volume any anomaly in the amount of space occupied by bone tissue in the skeleton MP:0010875 increased bone volume increased amount of space occupied by bone tissue in the skeleton MP:0010876 decreased bone volume reduced amount of space occupied by bone tissue in the skeleton MP:0010877 abnormal trabecular bone volume any anomaly in the amount of space occupied by trabecular bone tissue in the skeleton MP:0010878 increased trabecular bone volume increase in the amount of space occupied by trabecular bone tissue in the skeleton MP:0010879 decreased trabecular bone volume decrease in the amount of space occupied by trabecular bone tissue in the skeleton MP:0010880 small esophagus reduced size of the part of the digestive canal through which food passes from the pharynx to the stomach MP:0010881 esophagus hypoplasia decrease in the number of normal cells in normal arrangement in the esophagus, typically resulting in decreased size MP:0010882 trachea hypoplasia decrease in the number of normal cells in normal arrangement in the trachea, typically resulting in decreased size MP:0010883 trachea stenosis abnormal narrowing or constriction of the trachea MP:0010884 esophagus stenosis abnormal narrowing or constriction of the esophagus MP:0010885 absent trachea absence of the tube descending from the larynx and branching into the right and left main bronchi MP:0010886 absent minor salivary glands all of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands are absent MP:0010887 pale lung lung lacking normal reddish coloration; often occurs with a bloodless or reduced vasculature condition MP:0010889 small alveolar lamellar bodies decreased size of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant MP:0010890 decreased alveolar lamellar body number reduced number of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant MP:0010891 increased alveolar lamellar body number greater number of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant MP:0010892 increased oligodendrocyte progenitor number greater number of cells that differentiate into a type of glial cell in the central nervous system MP:0010893 abnormal posterior commissure morphology any structural anomaly of the band of nerve fiber tracts that span the longitudinal fissure beneath the habenula of the pineal body and over the cerebral aqueduct, interconnecting the left and right pretectal regions and some midbrain nuclei MP:0010894 pulmonary alveolar edema an effusion of serous fluid into the pulmonary alveoli; usually caused by the movement of blood components through the pulmonary capillary walls as a result of a change in osmotic pressure, an increased permeability of the walls, or related factors MP:0010895 increased lung compliance increased ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure MP:0010896 decreased lung compliance reduced ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure MP:0010897 abnormal bronchiole epithelium morphology any structural anomaly of the epithelial layer of the bronchioles MP:0010898 abnormal pulmonary alveolus epithelium morphology any structural anomaly of the epithelial layer of the alveoli MP:0010899 abnormal pulmonary alveolar system morphology any structural anomaly of the portion of the lung comprised of the pulmonary acinus and the alveolar parenchyma MP:0010900 abnormal pulmonary interalveolar septum morphology any structural anomaly of the tissue intervening between two adjacent pulmonary alveoli, which consists of the basement membranes of alveolar-lining epithelium (mostly type I pneumocytes) and capillary endothelium; thicker alveolar septal regions may also contain elastic fibers, collagen, interstitial cells, smooth muscle cells, mast cells, lymphocytes and monocytes MP:0010901 abnormal pulmonary alveolar parenchyma morphology any structural anomaly of the distinguishing cell types of the lung alveolar tissue, including pulmonary epithelial cells (pneumocytes), alveolar capillary endothelial cells, interstitial cells (fibroblasts) and alveolar macrophages MP:0010902 abnormal pulmonary alveolar sac morphology any structural anomaly of the small terminal dilation of the alveolar ducts around which the alveoli form pocket-like clusters MP:0010903 abnormal pulmonary alveolus wall morphology any structural anomaly in the tissue that encloses the aveolar space of the lung MP:0010904 abnormal alveolar pore morphology any structural anomaly of the openings in the alveolar septum that permit air flow between adjacent alveoli MP:0010905 absent alveolar pores absence of the openings in the alveolar septum that permit air flow between adjacent alveoli MP:0010906 abnormal lung bud morphology any structural anomaly of the primary outgrowth of the embryonic trachea i.e. blunt end of the respiratory diverticulum which grows ventrally out of the proximal end of the foregut, then extends caudally and divides into two, forming the anlage of a primary bronchus and all its branches MP:0010907 absent lung buds absence of the blunt end of the respiratory diverticulum which normally grows ventrally out of the proximal end of the foregut, then extends caudally and divides into two, forming the origins of the bronchial tree MP:0010908 dilated pulmonary alveolar duct expansion or widening of the lumen of one or more of the respiratory conducting tubes distal to the respiratory bronchiole that lead to the alveolar sacs and the alveoli MP:0010909 pulmonary alveolar hemorrhage bleeding into the small sac-like dilations of the distal airspace of the lung MP:0010910 bronchiolar epithelial hyperplasia increase in the number of normal cells in normal arrangement in the bronchiolar epithelium, typically resulting in increased size MP:0010911 abnormal pulmonary acinus morphology any structural anomaly of the part of the airway consisting of a respiratory bronchiole and all of its branches MP:0010912 herniated liver protrusion of any portion of the liver from its normal anatomical position MP:0010913 abnormal neuroendocrine cell morphology any structural anomaly of a neuron that has the specialized function to produce and secrete hormones, contains neruosecretory granules, and that constitutes, in whole or in part, an endocrine organ or system MP:0010914 abnormal solitary pulmonary neuroendocrine cell morphology any structural anomaly of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis MP:0010915 increased solitary pulmonary neuroendocrine cell number increased number of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis MP:0010916 decreased solitary pulmonary neuroendocrine cell number decreased number of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis MP:0010917 absent solitary pulmonary neuroendocrine cells absence of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis MP:0010918 abnormal pulmonary neuroendocrine body morphology any structural anomaly of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors MP:0010919 increased number of pulmonary neuroendocrine bodies greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors MP:0010920 decreased number of pulmonary neuroendocrine bodies reduction in the number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors MP:0010921 absent pulmonary neuroendocrine bodies absence of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors MP:0010922 alveolitis inflammation of the small sac-like dilations of the distal airspace of the lung; acute pulmonary alveolitis involves exudate into the pulmonary alveoli and impaired gas exchange MP:0010923 calcified pulmonary alveolus pathologic deposition of calcium salts in the pulmonary alveoli MP:0010924 abnormal osteoid morphology any structural anomaly of newly formed organic bone matrix secreted by osteoblasts, that exists prior to calcification; it is comprised mainly of type I collagen fibers, chondroitin sulfate and osteocalcin MP:0010925 abnormal osteoid volume any anomaly in the amount of space occupied by newly formed organic bone matrix secreted by osteoblasts MP:0010926 increased osteoid volume increase in the amount of space occupied by newly formed organic bone matrix secreted by osteoblasts MP:0010927 decreased osteoid volume reduction in the amount of space occupied by newly formed organic bone matrix secreted by osteoblasts MP:0010928 abnormal osteoid thickness anomaly in the width of the layer of newly formed organic bone matrix secreted by osteoblasts MP:0010929 increased osteoid thickness increase in the width of the layer of newly formed organic bone matrix secreted by osteoblasts MP:0010930 decreased osteoid thickness reduction in the width of the layer of newly formed organic bone matrix secreted by osteoblasts MP:0010931 abnormal trabecular bone connectivity density any anomaly in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures MP:0010932 increased trabecular bone connectivity density increase in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures MP:0010933 decreased trabecular bone connectivity density reduction in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures MP:0010934 increased subcutaneous adipose tissue amount increase in amount of adipose tissue beneath the skin MP:0010935 increased airway resistance greater opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow MP:0010936 decreased airway resistance reduced opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow MP:0010937 increased total lung capacity greater volume of air contained in the lungs at the end of maximal inspiration MP:0010938 decreased total lung capacity reduced volume of air contained in the lungs at the end of maximal inspiration MP:0010939 abnormal mandibular prominence morphology any structural anomaly of the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip MP:0010940 abnormal maxillary prominence morphology any structural anomaly of the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw MP:0010941 abnormal foramen magnum morphology any structural anomaly of the large orifice in the occipital bone through which the spinal cord passes to the cranial cavity and becomes continuous with the medulla oblongata MP:0010942 abnormal respiratory epithelium morphology any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi MP:0010943 abnormal bronchus epithelium morphology any structural anomaly of the epithelial layer of the bronchi MP:0010944 respiratory epithelium hypertrophy increase in the bulk size of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi; may be due to cell enlargement or excessive production/accumulation of mucus material MP:0010945 lung epithelium hyperplasia increase in the number of normal cells in normal arrangement in the lung epithelium, typically resulting in increased size MP:0010946 hyperpnea breathing that is deeper and more rapid than normal MP:0010947 abnormal single-strand DNA break repair anomaly in the process of repair of single strand breaks in DNA; repair of such breaks is mediated by the same enzyme systems as are used in base excision repair MP:0010948 abnormal double-strand DNA break repair any anomaly in the process of repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix MP:0010949 decreased club cell number reduced number of the rounded, club-shaped, nonciliated cells found between ciliated cells in bronchiolar epithelium MP:0010950 abnormal lung hysteresivity anomaly in the lung tissue property defined as the ratio of dissipated energy to stored energy over a respiratory cycle; it can be measured as the area enclosed by a pressure-volume loop of the lung, and is dependent on composition and microstructure of the tissue components such as the elastic connective tissue MP:0010951 abnormal lipid oxidation anomaly in the process of removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen MP:0010952 abnormal fatty acid beta-oxidation anomaly in the process that results in the complete oxidation of a long-chain fatty acid, beginning with the addition of coenzyme A to a fatty acid, with successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively) MP:0010953 abnormal fatty acid oxidation anomaly in the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. MP:0010954 abnormal cellular respiration anomaly in the enzymatic release of energy from organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration) MP:0010955 abnormal respiratory electron transport chain anomaly in the process in which a series of electron carriers operate together to transfer electrons from donors such as NADH and FADH2 to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient MP:0010956 abnormal mitochondrial ATP synthesis coupled electron transport anomaly in the transfer of electrons through a series of electron donors and acceptors, generating energy that is ultimately used for synthesis of ATP, as it occurs in the mitochondrial inner membrane and mediated by multisubunit enzyme complexes known as complex I-IV MP:0010957 abnormal aerobic respiration any anomaly in the process of enzymatic release of energy from organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor MP:0010958 abnormal tricarboxylic acid cycle any anomaly in the universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes; the acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle MP:0010959 abnormal oxidative phosphorylation any anomaly in the process of phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain; oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis MP:0010960 abnormal compact bone mass anomaly in the total amount of compact bone tissue contained in the skeleton MP:0010961 increased compact bone mass greater than normal total amount of compact bone tissue contained in the skeleton MP:0010962 decreased compact bone mass less than normal total amount of compact bone tissue contained in the skeleton MP:0010963 abnormal compact bone volume any anomaly in the amount of space occupied by compact bone tissue in the skeleton MP:0010964 increased compact bone volume greater than normal amount of space occupied by compact bone tissue in the skeleton MP:0010965 decreased compact bone volume less than normal amount of space occupied by compact bone tissue in the skeleton MP:0010966 abnormal compact bone area anomaly in the total amount of cross-sectional area of compact bone tissue MP:0010967 increased compact bone area increase in the total amount of cross-sectional area of compact bone tissue MP:0010968 decreased compact bone area reduction in the total amount of cross-sectional area of compact bone tissue MP:0010969 absent compact bone absence of the outer layers of solid, hard bone that covers spongy bone MP:0010970 abnormal compact bone lamellar structure any structural anomaly of the concentric layers of calcified matrix interspersed with osteocytes lodged in lacunae between the lamellae that comprise the cylindrical osteons MP:0010971 abnormal periosteum morphology any structural anomaly of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints MP:0010972 absent periosteum absence of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints MP:0010973 increased periosteum thickness increased width of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints MP:0010974 decreased periosteum thickness decreased width of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints MP:0010975 abnormal lung lobe morphology any structural anomaly of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls of connective tissue) MP:0010976 small lung lobe reduced size of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls of connective tissue) MP:0010977 fused right lung lobes complete or partial fusion of the right lung lobes, indicative of defective lobar septation during embryonic lung development MP:0010978 absent ureteric bud absence of the epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme MP:0010979 small ureteric bud reduced size of the epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme MP:0010980 ectopic ureteric bud ureteric bud(s) are not located in the normal or expected position MP:0010981 abnormal branching involved in ureteric bud morphogenesis anomaly in the process in which the branching structure of the ureteric bud is generated and organized MP:0010982 abnormal ureteric bud elongation any anomaly in the process in which a ureteric bud grows along its axis MP:0010983 abnormal ureteric bud invasion any anomaly in the process in which the ureteric bud grows into the metanephric mesenchyme, and contributes to the formation of the metanephros MP:0010984 abnormal metanephric mesenchyme morphology any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing metanephros; interactions between the ureteric bud and the metanephric mesenchyme leads to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue MP:0010985 abnormal kidney mesenchyme morphology any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing kidney MP:0010986 abnormal mesonephric mesenchyme morphology any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing mesonephros MP:0010987 abnormal nephrogenic mesenchyme morphogenesis any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing nephron MP:0010988 abnormal bronchial cartilage morphology any structural anomaly of the hyaline cartilaginous structures that support the bronchi, present as irregular rings in the larger bronchi (and not as regular as in the trachea), and as small plates and islands in the smaller bronchi; as the branching continues through the bronchial tree, the amount of hyaline cartilage in the walls decreases until it is absent in the smallest bronchioles MP:0010989 fused bronchial cartilage rings fusion of the hyaline cartilaginous structures that support the bronchi MP:0010992 increased surfactant secretion greater production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli MP:0010993 decreased surfactant secretion decreased production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli MP:0010994 aerophagia excessive swallowing of air or gas MP:0010995 abnormal lung alveolus development anomaly in the formation of the sacs for holding air in the lungs, which are formed by the terminal dilation of air passageways MP:0010996 increased aorta wall thickness increased depth of the part of the aorta that encloses the luminal space MP:0010997 decreased aorta wall thickness decreased depth of the part of the aorta that encloses the luminal space MP:0010998 pulmonary alveolar proteinosis abnormal intra-alveolar accumulation of an amorphous, largely cell-free, surfactant-like lipoproteinaceous material that is not easily cleared from the lungs MP:0010999 proteinosis disordered protein formation and distribution, especially manifested by the accumulation of excess or abnormal proteins in tissues MP:0011000 abnormal allogrooming behavior defects in the standard of behavior in which individuals in a cohort clean or maintain one another's outer body or appearance MP:0011001 absence of AMPA-mediated synaptic currents absence of a measured amplitude, current density or response to stimulation of NMDA receptors MP:0011002 enhanced AMPA-mediated synaptic currents increase in the measured amplitude, current density or duration of response to stimulation of AMPA receptors MP:0011003 reduced AMPA-mediated synaptic currents reduction in the measured amplitude, current density or duration of response to stimulation of AMPA receptors MP:0011004 abnormal epidermal stem cell morphology any structural anomaly of a somatic stem cell that is part of the epidermis MP:0011005 abnormal epidermal stem cell physiology any functional anomaly of a somatic stem cell that is part of the epidermis MP:0011006 abnormal epidermal stem cell proliferation anomaly in the ability of a somatic stem cell population that is part of the epidermis to undergo expansion by cell division MP:0011007 abnormal epidermal stem cell apoptosis change in the timing or the number of somatic stem cells that are part of the epidermis, undergoing programmed cell death MP:0011008 abnormal circulating glutamate dehydrogenase level any anomaly in the concentration in the blood of the enzymes which catalyze the reaction of L-glutamate, water and NAD+, producing alpha-ketoglutarate, ammonia, and NADH MP:0011009 increased circulating glutamate dehydrogenase level increased concentration in the blood of the enzymes which catalyze the reaction of L-glutamate, water and NAD+, producing alpha-ketoglutarate, ammonia, and NADH MP:0011010 decreased circulating glutamate dehydrogenase level reduced concentration in the blood of the enzymes which catalyze the reaction of L-glutamate, water and NAD+, producing alpha-ketoglutarate, ammonia, and NADH MP:0011011 impaired lung lobe morphogenesis failure to form any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung MP:0011012 bronchiectasis a chronic inflammatory or degenerative condition marked by permanent dilatation (widening) of one or more bronchi and loss of elasticity of the bronchial walls MP:0011013 bronchiolectasis a chronic inflammatory or degenerative condition marked by permanent dilatation (widening) of one or more bronchioles and loss of elasticity of the bronchiolar walls MP:0011014 decreased core body temperature reduced degree of heat natural to the internal center of a living being MP:0011015 decreased body surface temperature reduced degree of heat natural to skin-environment interface of a living being MP:0011016 increased core body temperature increased degree of heat natural to the internal center of a living being MP:0011017 increased body surface temperature increased degree of heat natural to the skin-environment interface of a living being MP:0011018 pulmonary hyaline membrane formation abnormal presence of an eosinophilic hyaline (glass-like) material composed of fibrin, proteinaceous exudate and cellular debris, and lining or filling the alveoli, alveolar ducts and bronchioles; hyaline membranes block gas exchange and are usually found at autopsy in individuals that have died of respiratory distress syndrome in the neonatal stages MP:0011019 abnormal adaptive thermogenesis anomaly in the regulated production of heat in response to short term environmental changes, such as stress, diet or reduced temperature, often resulting in metabolic inefficiency or death MP:0011020 abnormal circadian temperature homeostasis any anomaly in the process in which an organism modulates its internal body temperature at different values with a regularity of approximately 24 hours MP:0011021 abnormal circadian regulation of heart rate anomaly in the process in which an organism modulates its heart rate at different values with a regularity of approximately 24 hours MP:0011022 abnormal circadian regulation of systemic arterial blood pressure any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours MP:0011023 obsolete absent motile cilia OBSOLETE. absence of cilia which have a variable arrangement, often with a 9 + 2 microtubular arrangement, of axonemal microtubules, contain molecular motors, and beat with a characteristic whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface; motile cilia are typically found in multiple copies on epithelial cells that line the lumenal ducts of various tissues MP:0011024 abnormal branching involved in lung morphogenesis anomaly in the process in which the branched structure of the respiratory airway tree is generated and organized MP:0011025 abnormal branching involved in trachea morphogenesis anomaly in the process in which the two main branches of the trachea is generated and organized MP:0011026 impaired branching involved in trachea morphogenesis partial or complete failure of the process in which the two main branches of the trachea is generated and organized MP:0011027 abnormal branching involved in bronchus morphogenesis anomaly in the process in which the branched structure of the bronchus is generated and organized MP:0011028 impaired branching involved in bronchus morphogenesis partial or complete failure of the process in which the branched structure of the bronchus is generated and organized MP:0011029 abnormal branching involved in preterminal bronchiole morphogenesis anomaly in the process in which the branched structure of the preterminal bronchioles are generated and organized MP:0011030 impaired branching involved in preterminal bronchiole morphogenesis partial or complete failure of the process in which the branched structure of the preterminal bronchioles are generated and organized MP:0011031 abnormal branching involved in terminal bronchiole morphogenesis anomaly in the process in which the branched structure of the terminal bronchioles are generated and organized MP:0011032 impaired branching involved in terminal bronchiole morphogenesis partial or complete failure of the process in which the branched structure of the terminal bronchioles are generated and organized MP:0011033 abnormal branching involved in respiratory bronchiole morphogenesis anomaly in the process in which the branched structure of the respiratory bronchioles are generated MP:0011034 impaired branching involved in respiratory bronchiole morphogenesis partial or complete failure of the process in which the branched structure of the respiratory bronchioles are generated MP:0011035 abnormal branching involved in alveolar duct morphogenesis anomaly in the process in which the branched structure of the alveolar ducts are generated MP:0011036 impaired branching involved in alveolar duct morphogenesis partial or complete failure of the process in which the branched structure of the alveolar ducts are generated MP:0011037 abnormal branching involved in alveolar sac morphogenesis anomaly in the process in which the terminal alveolar sacs are generated MP:0011038 impaired branching involved in alveolar sac morphogenesis partial or complete failure of the process in which the terminal alveolar sacs are generated MP:0011039 abnormal vestibuloocular dark reflex any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system when the test is run without light MP:0011040 abnormal vestibuloocular light reflex any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system when the test is run with light MP:0011041 abnormal vertical vestibuloocular reflex any anomaly in the nystagmus or deviation of the eyes in response to stimulation along the vertical axis of the vestibular system MP:0011042 abnormal horizontal vestibuloocular reflex any anomaly in the nystagmus or deviation of the eyes in response to stimulation along the horizontal axis of the vestibular system MP:0011043 abnormal lung elastance anomaly in the ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance MP:0011044 increased lung elastance faster ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance MP:0011045 decreased lung elastance reduced ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance MP:0011046 abnormal lung tissue damping anomaly in the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues MP:0011047 increased lung tissue damping increased value of the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues MP:0011048 decreased lung tissue damping reduced value of the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues MP:0011049 impaired adaptive thermogenesis inability or reduced ability to produce heat in response to short term environmental changes, such as stress, diet or reduced temperature, often resulting in metabolic inefficiency or death MP:0011050 abnormal respiratory motile cilium morphology any structural anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract MP:0011051 abnormal respiratory motile cilium number anomaly in the number of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract MP:0011052 increased respiratory motile cilia number greater number of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract MP:0011053 decreased respiratory motile cilia number reduced number of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract MP:0011054 absent respiratory motile cilia absence of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract MP:0011055 abnormal respiratory motile cilium physiology any functional anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract; may include alterations in ciliary beating pattern or frequency MP:0011056 abnormal brain ependyma motile cilium morphology any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid MP:0011057 absent brain ependyma motile cilia absence of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid MP:0011058 abnormal spinal cord motile cilium morphology any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid MP:0011059 abnormal ependyma motile cilium morphology any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain and the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid around the central nervous system MP:0011060 abnormal kinocilium morphology any structural anomaly of the nonmotile primary cilium that is found at the apical surface of auditory receptor cells MP:0011061 abnormal inner hair cell kinocilium morphology any structural anomaly of the nonmotile primary cilium that is found at the apical surface of inner hair cells MP:0011062 abnormal outer hair cell kinocilium morphology any structural anomaly of the nonmotile primary cilium that is found at the apical surface of outer hair cells MP:0011063 absent inner hair cell kinocilia absence of the nonmotile primary cilium that is found at the apical surface of inner hair cells MP:0011064 abnormal vestibular hair cell kinocilium morphology any structural anomaly of the nonmotile primary cilium that is found at the apical surface of vestibular hair cells MP:0011065 abnormal kidney epithelial cell primary cilium morphology any structural anomaly of the single non-motile cilium of a kidney epithelial cell that projects into the luminal space of the tubules and ducts where it is thought to act as a flow sensor MP:0011066 abnormal renal tubule epithelial cell primary cilium morphology any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor MP:0011067 abnormal somatostatin level anomaly of the blood or tissue concentration of a tetradecapeptide capable of inhibiting the release of somatotrophin by the anterior lobe of the pituitary gland and the release of insulin and gastrin from digestive system tissues MP:0011068 abnormal ependyma motile cilium physiology any functional anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain and the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid around the central nervous system MP:0011069 abnormal brain ependyma motile cilium physiology any functional anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid MP:0011070 abnormal spinal cord motile cilium physiology any functional anomaly of the tiny, motile hair-like projections from the epithelial cells that line the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid MP:0011071 absent club cells absence of the rounded, club-shaped, nonciliated cells found between ciliated cells in the bronchiolar epithelium MP:0011072 abnormal macrophage cytokine production any anomaly in the appearance of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in a change to its intracellular or extracellular levels MP:0011073 abnormal macrophage apoptosis excessive or absent cell death in macrophages MP:0011074 abnormal macrophage nitric oxide production any anomaly in the appearance of macrophage-derived nitric oxide due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels MP:0011075 abnormal macrophage activation involved in immune response anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response MP:0011076 increased macrophage nitric oxide production greater production of macrophage-derived nitric oxide due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels MP:0011077 decreased macrophage nitric oxide production reduced production of macrophage-derived nitric oxide due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels MP:0011078 increased macrophage cytokine production greater production of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels MP:0011079 decreased macrophage cytokine production reduced production of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in an decrease in its intracellular or extracellular levels MP:0011080 increased macrophage apoptosis greater incidence of cell death in macrophages MP:0011081 decreased macrophage apoptosis reduced incidence of cell death in macrophages MP:0011082 abnormal gastrointestinal motility anomaly in the propulsive movements of the digestive system, resulting in the transit of the contents along the gastrointestinal tract MP:0011083 lethality at weaning, complete penetrance premature death at weaning age of all organisms of a given genotype in a population, often due to the inability to make the transition to solid food MP:0011084 lethality at weaning, incomplete penetrance the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at weaning age MP:0011085 postnatal lethality, complete penetrance premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) MP:0011086 postnatal lethality, incomplete penetrance the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age) MP:0011087 neonatal lethality, complete penetrance death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0) MP:0011088 neonatal lethality, incomplete penetrance the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0) MP:0011089 perinatal lethality, complete penetrance death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) MP:0011090 perinatal lethality, incomplete penetrance the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1) MP:0011091 prenatal lethality, complete penetrance death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5) MP:0011092 embryonic lethality, complete penetrance death of all organisms of a given genotype in a population within the embryonic period prior to the completion of organogenesis (Mus: prior to E14) MP:0011093 embryonic lethality at implantation, complete penetrance death of all organisms of a given genotype in a population at the point of implantation (Mus: E4.5) MP:0011094 embryonic lethality before implantation, complete penetrance death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5) MP:0011095 embryonic lethality between implantation and placentation, complete penetrance death of all organisms of a given genotype in a population between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9) MP:0011096 embryonic lethality between implantation and somite formation, complete penetrance death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8) MP:0011097 embryonic lethality between somite formation and embryo turning, complete penetrance death of all organisms of a given genotype in a population between somite formation and the initiation of embryo turning (Mus: E8 to less than E9) MP:0011098 embryonic lethality during organogenesis, complete penetrance death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) MP:0011099 lethality throughout fetal growth and development, complete penetrance death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) MP:0011100 preweaning lethality, complete penetrance death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) MP:0011101 prenatal lethality, incomplete penetrance the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5) MP:0011102 embryonic lethality, incomplete penetrance the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the embryonic period prior to the completion of organogenesis (Mus: prior to E14) MP:0011103 embryonic lethality at implantation, incomplete penetrance the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at the point of implantation (Mus: E4.5) MP:0011104 embryonic lethality before implantation, incomplete penetrance the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and implantation (Mus: E0 to less than E4.5) MP:0011105 embryonic lethality between implantation and placentation, incomplete penetrance the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9) MP:0011106 embryonic lethality between implantation and somite formation, incomplete penetrance the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the point of implantation and somite formation (Mus: E4.5 to less than E8) MP:0011107 embryonic lethality between somite formation and embryo turning, incomplete penetrance the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between somite formation and the initiation of embryo turning (Mus: E8 to less than E9) MP:0011108 embryonic lethality during organogenesis, incomplete penetrance the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) MP:0011109 lethality throughout fetal growth and development, incomplete penetrance the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) MP:0011110 preweaning lethality, incomplete penetrance the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age) MP:0011111 lethality during fetal growth through weaning, complete penetrance death of all organisms of a given genotype in a population between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age) MP:0011112 lethality during fetal growth through weaning, incomplete penetrance the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age) MP:0011113 abnormal airway basal cell morphology any structural anomaly of a long-lived multipotent stem cell of the pseudostratified airway epithelium which is restricted to the tracheal epithelium in mice; airway BCs have been shown to be capable of self renewal, give rise to secretory (Clara) cells and ciliated cells, and play important roles both in epithelial homeostasis and in pathological airway remodeling MP:0011114 abnormal airway basal cell differentiation abnormal or arrest of differentiation of the long-lived multipotent stem cell population of the pseudostratified airway epithelium; changes in the lineage choice of BCs or their undifferentiated daughters might contribute to the mucous cell hyperplasia, metaplasia or squamous metaplasia seen in many respiratory disorders MP:0011115 airway basal cell hyperplasia increased number of the long-lived multipotent stem cells of the pseudostratified airway epithelium MP:0011116 absent Reichert's membrane absence of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal endoderm; normally required for the maternofetal exchange of nutrients and important for postgastrulation development MP:0011117 abnormal susceptibility to weight gain anomaly in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake MP:0011118 abnormal susceptibility to weight loss anomaly in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction MP:0011119 abnormal primordial ovarian follicle number abnormal numbers of the ovarian follicle that is indiscernible to the naked eye and develops into to primary, secondary, and finally mature vesicular follicles MP:0011120 increased primordial ovarian follicle number greater than normal numbers of the ovarian follicle that is indiscernible to the naked eye and develops into to primary, secondary, and finally mature vesicular follicles MP:0011121 decreased primordial ovarian follicle number fewer than normal numbers of the ovarian follicle that is indiscernible to the naked eye and develops into to primary, secondary, and finally mature vesicular follicles MP:0011122 absent primordial ovarian follicles absence of the ovarian follicle that is indiscernible to the naked eye and develops into to primary, secondary, and finally mature vesicular follicles MP:0011123 abnormal primary ovarian follicle number abnormal numbers of the ovarian follicle that is characterized by the presence of a single layer of granulosa cells MP:0011124 increased primary ovarian follicle number greater than normal numbers of the ovarian follicle that is characterized by the presence of a single layer of granulosa cells MP:0011125 decreased primary ovarian follicle number fewer than normal numbers of the ovarian follicle that is characterized by the presence of a single layer of granulosa cells MP:0011126 absent primary ovarian follicles absence of the ovarian follicle that is characterized by the presence of a single layer of granulosa cells MP:0011127 abnormal tertiary ovarian follicle number abnormal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers MP:0011128 increased tertiary ovarian follicle number greater than normal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers MP:0011129 decreased tertiary ovarian follicle number fewer than normal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers MP:0011130 absent tertiary ovarian follicles absence of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers MP:0011131 abnormal lung endothelial cell physiology any functional anomaly of the squamous cells forming the lining of the pulmonary vasculature MP:0011132 abnormal lung endothelial cell migration anomaly in the movement of endothelial cells or their precursors to the appropriate location in the pulmonary vasculature MP:0011133 increased lung endothelial cell migration increased or faster movement of endothelial cells or their precursors to the appropriate location in the pulmonary vasculature MP:0011134 decreased lung endothelial cell migration reduced or slower movement of endothelial cells or their precursors to the appropriate location in the pulmonary vasculature MP:0011135 abnormal lung endothelial cell adhesion altered ability of an endothelial cell in the pulmonary vasculature to adhere to another cell or to a non-cellular component of the environment MP:0011136 increased lung endothelial cell adhesion increased ability of an endothelial cell in the pulmonary vasculature to adhere to another cell or to a non-cellular component of the environment MP:0011137 decreased lung endothelial cell adhesion decreased ability of an endothelial cell in the pulmonary vasculature to adhere to another cell or to a non-cellular component of the environment MP:0011138 abnormal lung endothelial cell proliferation altered ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division MP:0011139 increased lung endothelial cell proliferation greater ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division MP:0011140 decreased lung endothelial cell proliferation reduced ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division MP:0011141 increased lung endothelial cell apoptosis acceleration in the timing or in the number of endothelial cells in the pulmonary vasculature undergoing programmed cell death MP:0011142 abnormal lung-associated mesenchyme development abnormality in the formation of the lung tissue comprised of multiple cell types (including connective tissue, endothelial cells, lymphatics, smooth muscle cells surrounding airways and blood vessels, myofibroblasts involved in septum formation, and cartilage-forming cells in the trachea), with most cells thought to be derived from the splanchnic mesenchyme, and other cells (endothelial, smooth muscle) believed to invade the lung as it expands; lung mesenchyme is a critical determinant of the shape and size of the developing lung, the extent and patterning of epithelial branching, and the formation of the pulmonary vasculature and interstitial mesenchymal components of the adult lung MP:0011143 thick lung-associated mesenchyme increased thickness of the mesenchymal cell layer due to delay or failure of the mesenchymal compartment to thin down during the late stages of embryonic lung development MP:0011144 thin lung-associated mesenchyme decreased thickness of the mesenchymal cell layer in the developing lung MP:0011145 abnormal mesenchymal cell differentiation involved in lung development abnormal or arrest of differentiation of the mesenchymal cell population in the developing lung MP:0011146 abnormal mesenchymal cell proliferation involved in lung development anomaly in the ability of the differentiating lung mesenchymal cell population to undergo expansion by cell division in the developing lung MP:0011147 increased mesenchymal cell proliferation involved in lung development increase in the expansion rate of a lung mesenchymal cell population by cell division MP:0011148 decreased mesenchymal cell proliferation involved in lung development reduction in the expansion rate of a lung mesenchymal cell population by cell division MP:0011149 abnormal hippocampus stratum lacunosum morphology any structural anomaly in the thin stratum in the hippocampus that is immediately deep to the molecular layer, and is superficial to the stratum radiatum MP:0011150 abnormal hippocampus stratum oriens morphology any structural anomaly of the layer that is part of the CA fields of the hippocampus consisting of a narrow relatively cell free layer located deep to the pyramidal cell layer extending through areas CA1, CA2 and CA3 MP:0011151 abnormal hippocampus stratum radiatum morphology any structural anomaly of the layer located immediately above the pyramidal cell layer in CA2 and CA1 and superficial to the stratum lucidum in CA3. Suprapyramidal region in which CA3 to CA3 associational connections and CA3 to CA1 Schaffer collateral connections are located MP:0011152 thick hippocampus molecular cell layer increase in the width of the cytoarchitectural region of the hippocampus consisting of a composite of the two outermost layers of the hippocampus, the Stratum lacunosum-moleculare and the Stratum radiatum MP:0011153 thick hippocampus stratum oriens increase in the width of the layer that is part of the CA fields of the hippocampus consisting of a narrow relatively cell free layer located deep to the pyramidal cell layer extending through areas CA1, CA2 and CA3 MP:0011154 thick hippocampus stratum radiatum increase in the width of the layer located immediately above the pyramidal cell layer in CA2 and CA1 and superficial to the stratum lucidum in CA3 MP:0011155 absent hippocampus stratum oriens absence of the layer that is part of the CA fields of the hippocampus consisting of a narrow relatively cell free layer located deep to the pyramidal cell layer extending through areas CA1, CA2 and CA3 MP:0011156 abnormal hypodermis fat layer morphology any structural anomaly of the superficial portion of the subcutaneous tissue which is specialized for fat storage MP:0011157 abnormal hypodermis muscle layer morphology any structural anomaly of the skeletal muscle layer in the superficial fascia MP:0011158 absent hypodermis muscle layer absence of the skeletal muscle layer in the superficial fascia MP:0011159 abnormal epidermal-dermal junction morphology any structural anomaly of the multi-layer basement membrane between the dermis and epidermis that serves to adhere the dermis and epidermis, provide mechanical support for the epidermis, and forms a barrier to cells and large molecules across the junction MP:0011160 dermal-epidermal separation the appearance of gaps or clefts in the normally continuous junctional interface between the dermis and epidermis MP:0011161 increased hypodermis neovascularization new or excessive vessel proliferation in the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia MP:0011162 abnormal wet-to-dry lung weight ratio any deviation from the standard ratio, calculated by dividing the wet lung weight (measured immediately after lung excision) to the oven-dried lung weight, compared to control samples; may be used as an index of extravascular fluid accumulation (pulmonary edema) and/or tissue damage after lung injury MP:0011163 increased wet-to-dry lung weight ratio an increase in the ratio of wet lung weight (measured immediately after lung excision) to oven-dried lung weight relative to control samples; may reflect an inability to expel remaining amniotic fluid out of the lungs during or shortly after birth, or increased fluid accumulation (pulmonary edema) and/or tissue damage after lung injury MP:0011164 panniculitis inflammation of the subcutaneous adipose tissue MP:0011165 abnormal tooth root development aberrant or incomplete formation of the part of a tooth that is implanted in the gum; the root is normally located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone MP:0011166 absent molar root absence of the part of a molar tooth that is implanted in the gum; mandibular and maxillary molars usually have two and three roots, respectively MP:0011167 abnormal adipose tissue development anomaly in the process of the formation of the connective tissue composed of fat cells enmeshed in areolar tissue MP:0011168 abnormal fat cell differentiation abnormal or arrest of differentiation of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals MP:0011169 abnormal white fat cell differentation abnormal or arrest of differentiation of fat cells with light coloration and few mitochondria; these contain a scant ring of cytoplasm surrounding a single large lipid droplet or vacuole MP:0011170 abnormal brown fat cell differentiation abnormal or arrest of differentiation of cells from the thermogenic form of adipose tissue found in newborns of many species, including humans, and in hibernating mammals MP:0011171 increased number of Heinz bodies presence of intracellular inclusions usually attached to the red blood cell membrane, resulting from oxidative injury to and precipitation of hemoglobin in red blood cells MP:0011172 abnormal otic pit morphology any structural anomaly of the pair of depressions of thickened otic placode epithelium, that further develops into the otic vesicles MP:0011173 abnormal otic placode morphology any structural anomaly of two paired thickened areas of ectoderm close to the hindbrain from which the vestibular system and the auditory system develops; the otic placode invaginates into the mesenchyme adjacent to the rhombencephalon to form the otic pit MP:0011174 lipodystrophy abnormal or degenerative conditions of the body's adipose tissue resulting in bodily or focal loss and the appearance of redistribution of fat tissue; adipose tissue loss may be total, partial, or localized MP:0011175 platyspondylia flatness of the bodies of the vertebrae; one or many vertebrae may be affected MP:0011176 abnormal erythroblast morphology any structural anomaly of the nucleated precursor of erythrocytes MP:0011177 abnormal erythroblast number altered number of the nucleated precursor of erythrocytes MP:0011178 increased erythroblast number greater number of the nucleated precursor of erythrocytes MP:0011179 decreased erythroblast number reduced number of the nucleated precursor of erythrocytes MP:0011180 abnormal hematopoietic cell number any anomaly in the expected number of cells of the hematopoietic lineage MP:0011181 increased hematopoietic cell number greater than expected number of cells of the hematopoietic lineage MP:0011182 decreased hematopoietic cell number fewer than expected number of cells of the hematopoietic lineage MP:0011183 abnormal primitive endoderm morphology any structural anomaly of the transient thin monolayer of cuboidal cells that comprise the lower layer of the bilaminar embryonic disk; the hypoblast cells contribute to several extraembryonic structures, but do not contribute to the embryo MP:0011184 absent embryonic epiblast absence of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion MP:0011185 absent primitive endoderm absence of the transient thin monolayer of cuboidal cells that comprise the lower layer of the bilaminar embryonic disk; the hypoblast cells contribute to several extraembryonic structures, but do not contribute to the embryo MP:0011186 abnormal visceral endoderm morphology any structural anomaly of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut MP:0011187 abnormal parietal endoderm morphology any structural anomaly of the primitive endoderm-derived tissue that lines the luminal surface of the mural trophectoderm MP:0011188 increased erythrocyte protoporphyrin level an accumulation of the intermediates of heme biosynthesis in red blood cells MP:0011189 small embryonic epiblast reduced size of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion MP:0011190 thick embryonic epiblast increased thickness of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion MP:0011191 increased embryonic epiblast cell apoptosis increase in the number of embryonic epiblast cells undergoing programmed cell death MP:0011192 decreased embryonic epiblast cell proliferation reduction in the expansion rate of the embryonic epiblast cells by cell division MP:0011193 embryonic epiblast cell degeneration a retrogressive impairment of function or destruction of the cells comprising the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion MP:0011194 abnormal hair follicle physiology any functional anomaly of the invagination of the epidermis from which the hair shaft develops MP:0011195 increased hair follicle apoptosis greater than expected levels of programmed cell death of cells in the epidermis from which the hair shaft develops MP:0011196 decreased hair follicle apoptosis reduced from expected levels of programmed cell death of cells in the epidermis from which the hair shaft develops MP:0011197 abnormal proamniotic cavity morphology any structural anomaly of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds MP:0011198 absent proamniotic cavity absence of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds MP:0011199 abnormal amniotic cavity morphology any structural anomaly of the closed space between the embryo and the amnion, containing the amniotic fluid; it is formed by the fusion of the parts of the anterior and posterior amniotic folds MP:0011200 abnormal extraembryonic coelom morphology any structural anomaly of the fluid-filled spaces formed within the mass of extraembryonic mesoderm that later fuse to become a large extraembryonic cavity MP:0011201 abnormal visceral yolk sac cavity morphology any structural anomaly of the closed space containing the yolk, formed by the fusion of the edges of the embryonic epiblast (hypoblast) and later surrounded by the visceral yolk sac (hypoblast and visceral yolk sac mesoderm) MP:0011202 abnormal ectoplacental cavity morphology any structural anomaly of the closed space within the ectoplacental cone, formed by the fusion of the parts of the amniotic fold that separate it from the amniotic cavity MP:0011203 abnormal parietal yolk sac morphology any structural anomaly of the tissue that consists of two cellular layers (parietal endoderm and trophoblast) separated by a relatively thick nonvascular basement membrane (Reichert's membrane), and acts as a protective layer to supports and facilitates transport of nutrients between the uterine tissue and the yolk sac cavity MP:0011204 abnormal visceral yolk sac blood island morphology any structural anomaly of the masses of developing blood cells attached to endothelium in the yolk sac MP:0011205 excessive folding of visceral yolk sac the appearance of wrinkles or folds on the surface of the visceral yolk sac MP:0011206 absent visceral yolk sac absence of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo MP:0011207 absent ectoplacental cavity absence of the closed space within the ectoplacental cone, formed by the fusion of the parts of the amniotic fold that separate it from the amniotic cavity MP:0011208 small proamniotic cavity reduced size of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds MP:0011209 absent extraembryonic coelom absence of the fluid-filled spaces formed within the mass of extraembryonic mesoderm that later fuse to become a large extraembryonic cavity MP:0011210 abnormal temporomandibular joint morphology any structural anomaly of the synovial articulation between the head of the mandibular condoyloid process and the mandibular fossa and articular tubercle of the temporal bones MP:0011211 abnormal common peroneal nerve morphology any structural anomaly of a nerve arising at the terminal division of the sciatic nerve at the popliteal fossa and extending to the neck of the fibula, ultimately innervating the Peroneus muscles MP:0011212 absent common peroneal nerve absence of the nerve arising at the terminal division of the sciatic nerve at the popliteal fossa and extending to the neck of the fibula, ultimately innervating the Peroneus muscles MP:0011213 abnormal brain copper level an anomaly in the amount of copper present in brain tissue MP:0011214 increased brain copper level a greater accumulation of copper in the brain tissue compared to controls MP:0011215 decreased brain copper level a reduced amount of copper in the brain tissue compared to controls MP:0011216 abnormal brainstem copper level an anomaly in the amount of copper present in brainstem tissue MP:0011217 increased brainstem copper level a greater accumulation of copper in the brainstem tissue compared to controls MP:0011218 decreased brainstem copper level a reduced amount of copper in the brainstem tissue compared to controls MP:0011219 abnormal intestinal calcium absorption any anomaly in the ability of the body to take up calcium into the blood by absorption from the small intestine MP:0011220 increased intestinal calcium absorption augmented ability of the body to take up calcium into the blood by absorption from the small intestine MP:0011221 decreased intestinal calcium absorption reduced ability of the body to take up calcium into the blood by absorption from the small intestine MP:0011222 abnormal lymph node medullary sinus morphology any structural anomaly of the channels in the lymph node medulla that separate the medullary cords and are crossed by a reticulum of cells and fibers and bounded by littoral cells; lymph flows through the medullary sinus from the cortical sinuses and into the efferent lymphatic vessels MP:0011223 dilated lymph node medullary sinus the luminal space of one or more lymph node medullary sinuses is increased in volume or area, usually with an increase in contained fluid MP:0011224 abnormal lymph node medullary cord morphology any structural anomaly of the dense rope-like structures of lymphatic tissue located between the medullary sinuses in the medulla of a lymph node MP:0011225 lymph node medullary cord hyperplasia increase in the number of normal cells in normal arrangement in the lymph node medullary cord, typically resulting in increased size MP:0011226 abnormal thiamin level any anomaly in the concentration of thiamine (vitamin B1), a water soluble vitamin present in fresh vegetables and meats, especially liver MP:0011227 abnormal vitamin B12 level any anomaly in the concentration of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom MP:0011228 abnormal vitamin D level any anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3) MP:0011229 abnormal vitamin C level any anomaly in the concentration of L-ascorbic acid (vitamin C), which is a common co-factor and has anti-oxidant activities in many species MP:0011230 abnormal folic acid level any anomaly in the concentration of the vitamin B family member that stimulates the hematopoietic system, is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses, and is used in the treatment and prevention of folate deficiencies and megaloblastic anemia MP:0011231 abnormal vitamin E level any anomaly in the concentration of vitamin E, tocopherol, including a series of eight structurally similar compounds; alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant MP:0011232 abnormal vitamin A level any anomaly in the concentration of any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid; animals can not synthesize vitamin A de novo, but form it through oxidative cleavage of carotenoids supplied in the diet MP:0011233 abnormal vitamin A metabolism altered ability to metabolize any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid; animals can not synthesize vitamin A de novo, but form it through oxidative cleavage of carotenoids supplied in the diet MP:0011234 abnormal retinol level any anomaly in the concentration of retinol, which plays an essential role in metabolic functioning of the retina, and growth and differentiation MP:0011235 abnormal blood oxygen capacity the maximum amount of oxygen that will combine chemically with a given amount of hemoglobin in a unit volume of blood is not as expected MP:0011236 increased blood oxygen capacity an increase in the maximum amount of oxygen that will combine chemically with a given amount of hemoglobin in a unit volume of blood MP:0011237 decreased blood oxygen capacity a decrease in the maximum amount of oxygen that will combine chemically with a given amount of hemoglobin in a unit volume of blood MP:0011238 abnormal inner ear development atypical initial production, differentiation, migration or maturation of the labyrinth, including the semicircular canals, vestibule and cochlea MP:0011239 abnormal skin coloration a variation in an expected skin color or complexion that may be due to inflammation, pigment defects or other causes MP:0011240 abnormal fetal derived definitive erythrocyte morphology any structural anomaly of a fetal liver derived enucleated erythrocyte, which matures in macrophage islands within the liver, enucleates, and then enters the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins MP:0011241 abnormal fetal derived definitive erythrocyte cell number anomaly in the number of a fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins MP:0011242 increased fetal derived definitive erythrocyte cell number increased number of fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins MP:0011243 decreased fetal derived definitive erythrocyte cell number reduced number of fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins MP:0011244 absent fetal derived definitive erythrocytes absence of fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins MP:0011245 abnormal fetal derived definitive erythrocyte physiology any functional anomaly of a fetal liver derived enucleated erythrocyte, which matures in macrophage islands within the liver, enucleates, and then enters the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins MP:0011246 abnormal fetal liver hematopoietic progenitor cell morphology any structural anomaly of a hematopoietic stem cell that resides in the fetal liver MP:0011247 abnormal yolk sac hematopoietic stem cell morphology any structural anomaly of a hematopoietic stem found in the yolk sac MP:0011248 visceral organ asymmetry lateral duplication of some or all internal organs MP:0011249 abdominal situs inversus lateral transposition or mirroring of the viscera of the abdomen, sometimes incomplete, with all organs maintaining the normal relative position with respect to each other MP:0011250 abdominal situs ambiguus an abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements MP:0011251 bronchial situs inversus anomaly in the asymmetry of the bronchi of the lung such that these structures on both the left and right side have the morphology normally seen on the opposite side of the body MP:0011252 situs inversus totalis the complete right to left reversal (transposition) of the thoracic and abdominal organs, including the heart (dextrocardia) MP:0011253 situs inversus with levocardia situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia MP:0011254 superior-inferior ventricles an abnormality in which the heart ventricles are in a superior-inferior relationship due to abnormal displacement of the ventricular mass along the horizontal plane of its long axis; this frequently occurs together with criss-cross atrio-ventricular relationships MP:0011255 abnormal anterior visceral endoderm cell migration any anomaly in the movement of the cells of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue MP:0011256 abnormal neural fold morphology any structural anomaly of the elevated margins of the neural groove MP:0011257 abnormal head fold morphology any structural anomaly of the crescent-shaped, ventrally located fold of the embryonic disc at the future cephalic end of the developing embryo; it constitutes the first body fold, and initiates brain, foregut and heart development MP:0011258 abnormal tail fold morphology any structural anomaly of the crescent-shaped, ventrally located fold of the embryonic disc at the future caudal end of the developing embryo MP:0011259 abnormal cephalic neural fold morphology any structural anomaly of the elevated margins of the neural groove that are located in the future cephalic region of the embryo MP:0011260 abnormal head mesenchyme morphology any structural anomaly of the primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells MP:0011261 abnormal limb mesenchyme morphology any structural anomaly in the primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells MP:0011262 abnormal pharyngeal arch mesenchyme morphology any structural anomaly in the primordial embryonic connective tissue associated with the branchial arches, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to facial and cranial nerve-associated structures MP:0011263 abnormal spleen mesenchyme morphology any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing spleen MP:0011264 abnormal cardiac mesenchyme morphology any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures MP:0011265 abnormal pancreas mesenchyme morphology any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing pancreas MP:0011266 abnormal frontonasal mesenchyme morphology any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the frontonasal region of the head MP:0011267 abnormal excitatory postsynaptic current amplitude anomaly in the size (height or maximum displacement) or shape of the evoked excitatory postsynaptic current wave MP:0011268 biphasic excitatory postsynaptic current amplitude the appearance of two peaks instead of one peak in the evoked excitatory postsynaptic current wave MP:0011269 increased excitatory postsynaptic current amplitude increase in the size (height or maximum displacement) of the evoked excitatory postsynaptic current wave MP:0011270 decreased excitatory postsynaptic current amplitude reduction in the size (height or maximum displacement) of the evoked excitatory postsynaptic current wave MP:0011271 prolonged excitatory postsynaptic current rise time an increase in the time required for a signal to change from resting to the peak amplitude value in the evoked excitatory postsynaptic current wave MP:0011272 short excitatory postsynaptic current rise time a decrease in the time required for a signal to change from resting to the peak amplitude value in the evoked excitatory postsynaptic current wave MP:0011273 prolonged excitatory postsynaptic current decay time increase in the retention time of extracellular glutamate following stimulation MP:0011274 short excitatory postsynaptic current decay time decrease in the retention time of extracellular glutamate following stimulation MP:0011275 abnormal behavioral response to light unexpected change in the activity of an organism (in terms of movement, outward responses) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light MP:0011276 increased tail pigmentation visually detectable excess of pigment present on the tail surface MP:0011277 decreased tail pigmentation visually detectable dilution of pigment present on the tail surface MP:0011278 increased ear pigmentation visually detectable excess of pigment present in the outer ear MP:0011279 decreased ear pigmentation visually detectable dilution of pigment present in the outer ear MP:0011280 abnormal flank coat pigmentation irregular or unusual pigmentation of the hair between the last rib and the hip MP:0011281 abnormal olfactory epithelium cilium morphology any structural anomaly of the cilia of the epithelial cells that line the interior of the nose MP:0011282 increased podocyte apoptosis increase in the number of podocytes undergoing programmed cell death; podocyte apoptosis is an early step in the pathophysiological progression to proteinuria and glomerulosclerosis MP:0011283 abnormal erythropoietin level anomalous fluid or tissue concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine MP:0011284 abnormal circulating erythropoietin level anomalous blood concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine MP:0011285 increased circulating erythropoietin level greater blood concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine MP:0011286 decreased circulating erythropoietin level reduced blood concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine MP:0011287 increased erythropoietin level greater fluid or tissue concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine MP:0011288 decreased erythropoietin level reduced fluid or tissue concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine MP:0011289 abnormal nephron number anomaly in the total number of the filtering units of the kidney; nephron number can be used as an index of the efficiency of ureteric branching and nephrogenesis MP:0011290 decreased nephron number reduction in the total number of filtering units of the kidney MP:0011291 nephron necrosis morphological changes resulting from pathological death of nephron tissue; usually due to irreversible damage MP:0011292 absent nephron complete absence of functional filtering units in the kidney MP:0011293 dilated nephron stretched or widened aperture of the luminal space of one or more of the filtering units of the kidney MP:0011294 renal glomerulus hypertrophy increase in the bulk size of the capillary loops of the kidney that normally function as a filtration unit, due to cell enlargement MP:0011295 abnormal tubuloglomerular feedback response any anomaly in the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa MP:0011296 decreased tubuloglomerular feedback response attenuation of the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa MP:0011297 absent tubuloglomerular feedback response absence of the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa MP:0011298 ureter hypoplasia decrease in the number of normal cells in normal arrangement in the ureter, typically resulting in decreased size MP:0011299 abnormal macula densa morphology any structural anomaly of the specialized group of densely packed epithelial cells marking the origin of the convoluted portion of the distal tubule of a nephron, in contact with the afferent arteriole of the renal corpuscle and contiguous with the juxtaglomerular cells; these cells are tall, thin and columnar, have prominent nuclei, and act as sensors of solute concentration and flow of tubular fluid MP:0011300 abnormal juxtaglomerular cell morphology any structural anomaly of the specialized smooth muscle cells that synthesize, store, and secrete renin and are found in the wall of each afferent arteriole of a kidney glomerulus near its point of entry adjacent to a macula densa; J-G cells are distinguished by their granulated cytoplasm and play a critical role in the renin-angiotensin system and thus in renal autoregulation MP:0011301 juxtaglomerular cell hyperplasia increased number of the specialized smooth muscle cells that synthesize, store, and secrete renin and are found in the wall of each afferent arteriole of a kidney glomerulus near its point of entry adjacent to a macula densa MP:0011302 abnormal extraglomerular mesangial cell morphology any structural anomaly of the light-staining cells in the kidney found outside the glomerulus, near the vascular pole and macula densa; lacis cells form the juxtaglomerular apparatus in combination with two other types of cells: the macula densa of the distal convoluted tubule and juxtaglomerular cells of the afferent arteriole MP:0011303 absent kidney papilla absence of the apex (tip) of a renal pyramid i.e. the location where each medullary pyramid empties urine into a minor calyx MP:0011304 kidney papillary atrophy acquired diminution of the size of the apex (tip) of a renal pyramid associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0011305 dilated kidney calyx an expansion in the lumen volume or area of one or more of the branches of the renal pelvis that surround each renal papilla and collect urine MP:0011306 absent kidney pelvis absence of the funnel shaped proximal portion of the ureter, normally formed by convergence of the major calices MP:0011307 kidney medulla cyst presence of one or more abnormal membranous sacs in the kidney medulla MP:0011308 kidney corticomedullary cyst presence of one or more abnormal membranous sacs in the corticomedullary junction of the kidney MP:0011309 abnormal kidney arterial blood vessel morphology any structural anomaly of the network of tubes that supply blood to the renal tissues MP:0011310 abnormal kidney capillary morphology any structural anomaly of the small branching blood vessels in the kidney that form a network between the arterioles and venules, where the exchange of water, oxygen, carbon dioxide, and other nutrient and waste chemical substances occurs between the blood and the surrounding tissues MP:0011311 abnormal kidney venous blood vessel morphology any structural anomaly of the network of tubes that return blood from the renal tissues to the systemic circulation MP:0011312 abnormal kidney afferent arteriole morphology any structural anomaly of the blood vessels that branch from the kidney interlobular artery, convey blood to the glomerular capillaries, and play an important role in the regulation of blood pressure as a part of the tubuloglomerular feedback mechanism MP:0011313 abnormal kidney efferent arteriole morphology any structural anomaly of the blood vessels that convey blood from the glomerulocapillary network to the capillary bed of the proximal convoluted tubule MP:0011314 abnormal kidney cortex artery morphology any structural anomaly of the network of tubes that supplies blood to the renal cortex MP:0011315 abnormal kidney arcuate artery morphology any structural anomaly of the curved arteries at the corticomedullary border of the kidney that arise from the interlobar arteries and give rise to the interlobular arteries MP:0011316 abnormal kidney interlobular artery morphology any structural anomaly of the branches of the arcuate arteries of the kidney that radiate outward throught the renal columns and supply the glomeruli MP:0011317 abnormal renal artery morphology any structural anomaly of the pair of major vessels which arise off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supply the kidneys with blood; small branches of the renal artery also supply the suprarenal gland, the ureter and some surrounding tissues MP:0011318 abnormal right renal artery morphology any structural anomaly of the major vessel which arises off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supplies the right kidney with blood MP:0011319 abnormal left renal artery morphology any structural anomaly of the major vessel which arises off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supplies the left kidney with blood MP:0011320 abnormal glomerular capillary morphology any structural anomaly of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus MP:0011321 abnormal peritubular capillary morphology any structural anomaly of the tiny blood vessels that receive blood from the efferent arterioles of the glomerulus, and interact with superficial cortical nephrons allowing reabsorption and secretion between blood and the inner lumen of the nephron; peritubular capillaries are situated around the tubule and are at low pressure MP:0011322 abnormal kidney cortex vein morphology any structural anomaly of the network of tubes that receives blood from the renal cortex MP:0011323 abnormal renal vein morphology any structural anomaly of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava MP:0011324 abnormal kidney vasa recta morphology any structural anomaly in the straight arteries and arterioles that form a series of straight capillaries in the kidney medulla MP:0011325 abnormal kidney arcuate vein morphology any structural anomaly of the veins that parallel the arcuate arteries, receive blood from the interlobular veins and straight venules, and terminate in the interlobar veins MP:0011326 abnormal interlobular vein morphology any structural anomaly of the veins that parallel the interlobular arteries, receiving blood from the peritubular capillary plexus and empty into the arcuate veins MP:0011327 abnormal left renal vein morphology any structural anomaly of the longer of the two renal veins that receives blood from the left kidney; the left renal vein usually receives the left inferior phrenic vein, the left suprarenal vein, the left gonadal vein (left testicular vein in males, left ovarian vein in females) and the left second lumbar vein whereas these veins on the right side drain directly into the inferior vena cava MP:0011328 abnormal right renal vein morphology any structural anomaly of the shorter of the two renal veins that receives blood from the right kidney; the left renal vein usually receives the left inferior phrenic vein, the left suprarenal vein, the left gonadal vein (left testicular vein in males, left ovarian vein in females) and the left second lumbar vein whereas these veins on the right side drain directly into the inferior vena cava MP:0011329 abnormal inner renal medulla vasa recta morphology any structural anomaly in the vasa recta in the inner renal medulla MP:0011330 abnormal kidney outer medulla vasa recta morphology any structural anomaly in the vasa recta in the kidney outer medulla MP:0011331 abnormal papillary duct morphology any structural anomaly of the largest straight excretory ducts in the kidney medulla and papillae that are a continuation of the collecting tubules, and that open into the area cribosa MP:0011332 abnormal kidney outer medulla morphology any structural anomaly of the outer medullary region of the adult kidney containing the short Loops of Henle and collecting ducts MP:0011333 abnormal kidney inner medulla morphology any structural anomaly of the inner medullary region of the adult kidney containing collecting ducts and the long loops of Henle MP:0011334 abnormal nephrogenic zone morphology any structural anomaly in the region found at the periphery of the developing metanephros within which the metanephric mesenchyme aggregates around the tips of the ureteric tree to form the nephrons; in rodents including mice, this region normally disappears within the first postnatal week when nephrogenesis ceases and only mature nephrons are present; in humans, it is lost by 36 weeks of gestation MP:0011335 abnormal kidney pelvis smooth muscle morphology any structural anomaly of the smooth muscle tissue surrounding the urothelium of the kidney pelvis MP:0011336 abnormal kidney pelvis urothelium morphology any structural anomaly of the epithelial lining of the luminal space of the kidney pelvis MP:0011337 abnormal perihilar interstitium morphology any structural anomaly of the part of the renal interstitium surrounding the pelvis MP:0011338 abnormal mesangial matrix morphology any structural anomaly of the extracellular matrix secreted by intraglomerular mesangial cells MP:0011339 abnormal glomerular mesangium morphology any structural anomaly of the inner layer of the glomerulus within the basement membrane surrounding the glomerular capillaries that contain the intraglomerular mesangial cells MP:0011340 abnormal extraglomerular mesangium morphology any structural anomaly of the tissue comprised of mesangial cells that fill the triangular space between the macula densa and the afferent and efferent arterioles of the juxtaglomerular apparatus MP:0011341 abnormal loop of Henle descending limb morphology any structural anomaly of the portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure MP:0011342 abnormal loop of Henle ascending limb morphology any structural anomaly of the distal part of the loop of Henle that is impermeable to water and actively pumps sodium out of the filtrate to generate the hypertonic interstitium that drives countercurrent exchange; it consists of an initial very thin segment lined by simple squamous epithelium followed by a distal thick segment lined by simple cuboidal epithelium MP:0011343 abnormal loop of Henle ascending limb thin segment morphology any structural anomaly of the initial sub-portion of the ascending loop of Henle localized in the juxtamedullary nephron of the kidney; it is lined by simple squamous epithelium, impermeable to water but permeable to ions and other small particles MP:0011344 abnormal loop of Henle ascending limb thick segment morphology any structural anomaly of the distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule MP:0011345 truncated loop of Henle failure of the developing loop of Henle to elongate and extend into the medullary zone of the kidney MP:0011346 renal tubule atrophy acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0011347 abnormal kidney medullary ray morphology any structural anomaly in the center of a renal, cortical lobule, consisting of the ascending or descending limbs of the loop of Henle or of the collecting tubules; medullary rays are regions where parallel arrays of straight tubules travel perpendicular to the capsule and extend from the cortex to the medulla MP:0011348 abnormal renal glomerulus basement membrane morphology any structural anomaly of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter MP:0011349 abnormal renal glomerulus basement membrane thickness increased or decreased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule MP:0011350 abnormal proximal convoluted tubule brush border morphology any structural anomaly of the densely packed microvilli that cover the luminal surface of epithelial cells of the proximal convoluted tubule; microvilli increase the luminal surface area of cells, sense the fluid flow in the tubule lumen and convert this information via biochemical responses into reabsorption MP:0011351 absent proximal convoluted tubule brush border failure to form a brush border of densely packed microvilli on the luminal surface of epithelial cells of the proximal convoluted tubule MP:0011352 proximal convoluted tubule brush border loss attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes MP:0011353 expanded mesangial matrix increase in the amount of mesangial matrix present in the basement membrane surrounding the glomerular capillaries that also contain the intraglomerular mesangial cells MP:0011354 absent renal glomerulus complete absence of the tuft formed of capillary loops and mesangium at the beginning of each nephretic tubule in the kidney that normally function as a filtration unit MP:0011355 abnormal kidney interlobar artery morphology any structural anomaly of the branches of the segmental arteries of the kidney that cross between the renal lobes and give rise to the arculate arteries in the cortex MP:0011356 renal artery stenosis diffuse constriction or narrowing of one or both renal arteries MP:0011357 supernumerary renal arteries two or more arteries branch from the abdominal aorta and supply a single kidney MP:0011358 renal artery aneurysm a protruding sac formed by the dilation of the wall of a renal artery, resulting from a weakening of the vessel wall or heart muscle MP:0011359 decreased glomerular capillary number reduced number of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles MP:0011360 kidney cortex hypoplasia decrease in the number of normal cells in normal arrangement in the kidney cortex, typically resulting in decreased size MP:0011361 pelvic kidney an ectopic kidney located outside the renal fossa and within the pelvic cavity; pelvic kidneys may also, on occasion, occur as fused midline horseshoe kidneys MP:0011362 ectopic adrenal gland an adrenal gland located outside of its normal position MP:0011363 renal glomerulus atrophy acquired diminution of the size of the capillary loops of the kidney associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0011364 abnormal metanephros morphology any structural anomaly of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord; the metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine MP:0011365 small metanephros reduced size of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord MP:0011366 absent metanephros absence of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord MP:0011367 abnormal kidney apoptosis change in the timing or the number of kidney cells undergoing programmed cell death MP:0011368 increased kidney apoptosis increase in the number of cells of the kidney undergoing programmed cell death MP:0011369 increased renal glomerulus apoptosis increase in the number of cells of the kidney glomerulus undergoing programmed cell death MP:0011370 increased mesangial cell apoptosis increase in the number of phagocytic cells in the capillary tuft of the renal glomerulus undergoing programmed cell death MP:0011371 decreased kidney apoptosis decrease in the number of cells of the kidney undergoing programmed cell death MP:0011372 decreased renal tubule apoptosis decrease in the number of renal tubule cells undergoing programmed cell death MP:0011373 decreased mesangial cell apoptosis decrease in the number of phagocytic cells in the capillary tuft of the renal glomerulus undergoing programmed cell death MP:0011374 decreased podocyte apoptosis decrease in the number of podocytes undergoing programmed cell death; podocyte apoptosis is an early step in the pathophysiological progression to proteinuria and glomerulosclerosis MP:0011375 decreased renal glomerulus apoptosis decrease in the number of cells of the kidney glomerulus undergoing programmed cell death MP:0011376 abnormal kidney corticomedullary boundary morphology any structural anomaly of the region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary MP:0011377 renal glomerulus fibrosis formation of fibrous tissue in the renal glomerulus as a result of repair or a reactive process MP:0011378 abnormal kidney outer medulla inner stripe morphology any structural anomaly of the deep, centrally located portion of the renal outer medulla that is traversed by thin descending and thick ascending portions of the loops of Henle MP:0011379 abnormal kidney outer medulla outer stripe morphology any structural anomaly of the region of the kidney outer medulla that lies just below the cortex; the proximal straight tubules are present in this region MP:0011380 enlarged brain ventricles increased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord MP:0011381 abnormal kidney lobe morphology any structural anomaly of the portion of a kidney consisting of a renal medullary pyramid and the renal cortex above it; human kidneys have multilobar (multipyramidal) architecture while mice and rats have unilobar (unipyramidal) kidneys MP:0011382 abnormal kidney lobule morphology any structural anomaly of the portion of a renal lobe consisting of nephrons grouped around a single medullary ray and draining into a single collecting duct; human kidneys have multilobular, multipapillary architecture while mice and rats have unilobular, unipapillary kidneys MP:0011383 abnormal kidney capsule morphology any structural anomaly of the tough fibrous layer surrounding the kidney which is covered in a thick layer of perirenal adipose tissue that functions to provide some protection from trauma and damage MP:0011384 abnormal progesterone level anomaly in the concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy MP:0011385 abnormal testosterone level anomaly in the concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females MP:0011386 increased metanephric mesenchyme apoptosis increase in the number of cells of the metanephric mesenchyme (MM) undergoing programmed cell death; usually due to failure of MM cells to interact with the ureteric bud (UB) tips after UB invasion MP:0011387 absent metanephric mesenchyme absence of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing metanephros; normally, interactions between the ureteric bud and the metanephric mesenchyme lead to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue MP:0011388 absent heart absence of the hollow, muscular organ that maintains the circulation of the blood MP:0011389 absent optic disk absence of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve MP:0011390 abnormal fetal cardiomyocyte physiology any functional anomaly of fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes MP:0011391 abnormal fetal cardiomyocyte apoptosis change in the timing or the number of fetal cardiomyocytes undergoing programmed cell death MP:0011392 increased fetal cardiomyocyte apoptosis increase in the number of fetal cardiomyocytes undergoing programmed cell death MP:0011393 decreased fetal cardiomyocyte apoptosis reduction in the number of fetal cardiomyocytes undergoing programmed cell death MP:0011394 increased fetal cardiomyocyte proliferation increase in the ability of the differentiating cardiac muscle cell population to undergo expansion by cell division MP:0011395 decreased fetal cardiomyocyte proliferation reduced ability of the differentiating cardiac muscle cell population to undergo expansion by cell division MP:0011396 abnormal sleep behavior any anomaly in the actions, reactions, or performance of an organism during a periodic, readily reversible state of reduced awareness and metabolic activity MP:0011397 endoneurial edema an excessive accumulation of serous fluid in the interstitial connective tissue of a peripheral nerve MP:0011398 abnormal endoneurial fluid pressure measureable anomalies in the fluid of the ganglia and peripheral nerves that lie outside the brain and spinal cord which may interfere with normal nerve physiology MP:0011399 increased endoneurial fluid pressure a measureable increase of serous fluid in the interstitial connective tissue of a peripheral nerve which may interefere with normal nerve physiology MP:0011400 lethality, complete penetrance all individuals of a given genotype in a population die before the end of the normal lifespan but time(s) of death are unspecified MP:0011401 abnormal vascular smooth muscle development anomaly in the process of forming the nonstriated, involuntary muscle tissue of the blood vessels MP:0011402 renal cast any of the various casts formed from gelled protein precipitated in the distal convoluted tubules and collecting ducts of nephrons and molded to the tubular or duct lumen which dislodge and pass into the urine; types named for their constituent material include acellular casts (e.g. granular, hyaline, waxy, or fatty casts) and cellular casts (e.g. red or white blood cell casts) MP:0011403 pyelonephritis a diffuse pyogenic infection of the pelvis and parenchyma of the kidney; an ascending urinary tract infection that has reached the pyelum or pelvis of the kidney usually resulting from noncontagious bacterial infection of the bladder MP:0011404 pyelitis acute inflammation of the pelvis of the kidney, caused by bacterial infection MP:0011405 tubulointerstitial nephritis diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease MP:0011406 abnormal retrotrapezoid nucleus morphology any structural anomaly in the loose collection of neurons that reside in the rostral medulla close to the medullary surface, ventral and immediately caudal of nVII, that are crucial for CO2 sensing in the brain MP:0011407 absent nephrogenic zone absence of the region found at the periphery of the developing metanephros within which the metanephric mesenchyme aggregates around the tips of the ureteric tree to form the nephrons;in rodents including mice, this region normally persists for a few days postnatally, although it is lost in humans by 36 weeks of gestation MP:0011408 renal tubule hypertrophy increase in the bulk size of the loop of Henle, the proximal convoluted tubule or the distal convoluted tubule, due to cell enlargement MP:0011409 increased renal glomerulus basement membrane thickness increased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule MP:0011410 ectopic testis one or both of the testes located outside the normal pathway of descent into the scrotum MP:0011411 abnormal gonadal ridge morphology any structural anomaly of the elevation of thickened mesothelium and underlying mesenchyme found on the ventromedial border of the embryonic mesonephros in which the primordial germ cells become embedded, establishing it as the primordium of the testis or ovary MP:0011412 gonadal ridge hypoplasia decrease in the number of normal cells in normal arrangement in the gonadal ridge, typically resulting in decreased size MP:0011413 colorless urine absence of the usual straw-coloration of the urine MP:0011414 erythruria passage of red colored urine MP:0011415 abnormal aldosterone level anomaly in the concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule MP:0011416 abnormal testis interstitial tissue morphology any structural anomaly of the delicate connective tissue stroma that separates the seminiferous tubules and contains clusters of endocrine Leydig cells which secrete testosterone MP:0011417 abnormal renal transport any anomaly of the directed movement of substances through the kidney MP:0011418 leukocyturia presence of white blood cells in the urine MP:0011419 erythrocyturia presence of red blood cells in the urine MP:0011420 pyuria presence of pus in the urine when voided; a sign of inflammation often related to urinary tract infection MP:0011421 cylindruria presence of renal cylinders or casts in the urine MP:0011422 kidney medulla atrophy acquired diminution of the size of the inner portion of the kidney consisting of the renal pyramids, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0011423 kidney cortex atrophy acquired diminution of the size of the outer portion of the kidney located between the renal capsule and the renal medulla, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0011424 decreased urine uric acid level abnormally low amount in the urine of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine MP:0011425 abnormal kidney interstitium morphology any structural anomaly of the kidney region located between the nephrons, ureteric epithelia (ureteric tips, trunk and collecting duct system) and renal vasculature, and composed of renal support cells, including fibroblasts and macrophages, and mesenchymal stroma or interstitial cells; the renal vasculature lies within the renal interstitium but is not a part of it; various conditions can lead to scarring (fibrosis) and congestion of this area, which can cause kidney dysfunction and failure MP:0011426 abnormal ureter smooth muscle morphology any structural anomaly of the smooth muscle tissue surrounding the epithelium of the ureter MP:0011427 increased mesangial cell number increased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft MP:0011428 decreased mesangial cell number decreased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft MP:0011429 absent mesangial cell absence of the phagocytic cells in the capillary tuft of the renal glomerulus, normally interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft MP:0011430 mesangiolysis an injurious glomerular process that affects primarily the mesangium, starting with loosening and detachment of its matrix and progressing to dissolution/attenuation with degeneration of mesangial cells; mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis MP:0011431 increased urine flow rate increased volume of urine produced in a specified period of time MP:0011432 decreased urine flow rate reduced volume of urine produced in a specified period of time MP:0011433 glomerular capillary congestion obstruction of the normal flux of blood within the renal glomerular capillaries MP:0011434 abnormal urine magnesium level any change in the amount of magnesium in the urine MP:0011435 increased urine magnesium level higher than normal amount of magnesium in the urine MP:0011436 decreased urine magnesium level lower than normal amount of magnesium in the urine MP:0011437 glomerulus hemorrhage bleeding in the renal glomerulus MP:0011438 absent kidney medulla failure of the inner portion of the kidney, normally consisting of the renal pyramids, to form MP:0011439 abnormal kidney cell proliferation anomaly in the ability of any kidney cell population to undergo expansion by cell division MP:0011440 increased kidney cell proliferation increase in the expansion rate of any kidney cell population by cell division MP:0011441 decreased kidney cell proliferation decrease in the expansion rate of any kidney cell population by cell division MP:0011442 abnormal renal sodium ion transport any anomaly in the directed movement of sodium ions (Na+) by the kidney MP:0011443 abnormal renal water transport any anomaly in the directed movement of water (H2O) by the kidney MP:0011444 abnormal renal water homeostasis any anomaly in the kidney processes involved in the maintenance of an internal steady state of water in the body MP:0011445 abnormal renal protein reabsorption any anomaly in the process in which proteins are taken up from the collecting ducts and proximal and distal loops of the nephron MP:0011446 abnormal renal albumin reabsorption any anomaly in the process in which albumin is taken up from the collecting ducts and proximal and distal loops of the nephron MP:0011447 abnormal renal glucose reabsorption any anomaly in the process in which glucose is taken up from the collecting ducts and proximal and distal loops of the nephron MP:0011448 decreased dopaminergic neuron number fewer than normal numbers of the neurons that utilize dopamine as a neurotransmitter MP:0011449 increased dopaminergic neuron number greater than normal numbers of the neurons that utilize dopamine as a neurotransmitter MP:0011450 ectopic dopaminergic neuron abnormal location of one or more of the neurons that utilize dopamine as a neurotransmitter MP:0011451 increased susceptibility to dopaminergic neuron neurotoxicity greater than normal amount of dopaminergic neuronal cell death following exposure to a neurotoxic compound, such as MPTP-induced cell death occurring through interference in mitochondrial metabolism MP:0011452 decreased susceptibility to dopaminergic neuron neurotoxicity less than normal amount of dopaminergic neuronal cell death following exposure to a neurotoxic compound, such as MPTP-induced cell death occurring through interference in mitochondrial metabolism MP:0011453 abnormal glomerular capillary endothelium morphology any structural anomaly of the thin, extremely flattened layer of cells that line the interior surface of glomerular capillaries and is densely perforated by large transcellular pores (aka fenestrae or fenestrations) that, unlike those of other fenestrated capillaries, are generally thought to lack diaphragms MP:0011454 abnormal glomerular endothelium fenestra morphology any structural anomaly of the large plasma membrane-lined circular pores that perforate the flattened glomerular endothelium and, unlike those of other fenestrated capillaries, are not spanned by diaphragms; the density and size of glomerular fenestrae account, at least in part, for the high permeability of the glomerular capillary wall to water and small solutes MP:0011455 absent glomerular endothelium fenestra absence of the large plasma membrane-lined circular pores that normally perforate the flattened glomerular endothelium; loss of fenestrae may lead to a reduction in the glomerular filtration rate or proteinuria MP:0011456 abnormal ureter ureteric bud development any anomaly in the development of the elongated stalk of the ureteric bud that contributes to the morphogenesis of the ureter; the ureter ureteric bud is the initial structure that forms the ureter MP:0011457 abnormal metanephric ureteric bud development any anomaly in the development of the portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros MP:0011458 abnormal urine chloride ion level any change in the amount of chloride ion in the urine MP:0011459 increased urine chloride ion level abnormally large amounts of chloride ion in the urine MP:0011460 decreased urine chloride ion level abnormally low amounts of chloride ion in the urine MP:0011461 abnormal urine bicarbonate level any change in the amount of bicarbonate in the urine MP:0011462 increased urine bicarbonate level an increased amount of bicarbonate in the urine compared to the normal state MP:0011463 decreased urine bicarbonate level a reduced amount of bicarbonate in the urine compared to the normal state MP:0011464 bilirubinuria presence of conjugated bilirubin in the urine MP:0011465 abnormal urine urea nitrogen level any change in the amount of nitrogen in the form of urea in the urine MP:0011466 increased urine urea nitrogen level abnormally high amounts of nitrogen in the form of urea in the urine MP:0011467 decreased urine urea nitrogen level abnormally low amounts of nitrogen in the form of urea in the urine MP:0011468 abnormal urine amino acid level any anomaly in the amount in the urine of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group MP:0011469 abnormal urine creatinine level any change in the amount of creatinine in the urine MP:0011470 increased urine creatinine level an increased amount of creatinine in the urine compared to the normal state MP:0011471 decreased urine creatinine level a reduced amount of creatinine in the urine compared to the normal state MP:0011472 abnormal urine glycosaminoglycan level any change in the amount of glycosaminoglycan in the urine, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit MP:0011473 increased urine glycosaminoglycan level greater in the amount of glycosaminoglycan in the urine, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit MP:0011474 decreased urine glycosaminoglycan level reduced amount of glycosaminoglycan in the urine, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit MP:0011475 abnormal glycosaminoglycan level any change in the amount of glycosaminoglycan, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit MP:0011476 abnormal urine nucleotide level any change in the urinary level of glycosamines consisting of a nucleobase, a five-carbon sugar moiety (ribose or deoxyribose), and may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates) MP:0011477 abnormal urine nucleoside level any change in the urinary level of glycosylamines consisting of a nucleobase bound to a ribose or deoxyribose sugar via a beta-glycosidic linkage, including cytidine, uridine, adenosine, guanosine, thymidine and inosine and deoxynucleosides MP:0011478 abnormal urine catecholamine level any anomaly in the urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines act as hormones or neurotransmitters and are derived from the amino acid tyrosine MP:0011479 abnormal catecholamine level any anomaly in the amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines are act as hormones or neurotransmitters and are derived from the amino acid tyrosine MP:0011480 impaired ureteric peristalsis any anomaly in the wavelike sequence of involuntary muscular contraction and relaxation that passes along the ureter, thus propelling urine from the kidney pelvis to the urinary bladder MP:0011481 anterior iris synechia adhesion of the iris to the cornea MP:0011482 posterior iris synechia adhesion of the iris to the capsule of the lens or to the surface of the vitreous body MP:0011483 renal glomerular synechia presence of adhesions (synechiae) between the Bowman's capsule and the glomerular tuft; may develop when areas of glomerular capillary basement membrane denuded of visceral epithelial cells come in contact with the parietal epithelium of Bowman's capsule MP:0011484 abnormal ureter urothelium morphology any structural anomaly of the epithelial lining of the luminal space of the ureter MP:0011485 abnormal urethra urothelium morphology any structural anomaly of the epithelial lining of the luminal space of the urethra MP:0011486 ectopic ureter an abnormally placed opening of the ureter, either into the urinary bladder or at another site in the lower urinary or genital tract; commonly a result of a duplicated renal collecting system, a duplex kidney with two ureters where usually one ureter terminates at the urinary bladder, while the duplicated ureter being ectopic, ends in the vagina, the urethra or the vulval vestibule MP:0011487 abnormal ureteropelvic junction morphology any structural anomaly of the junction between the ureter and the renal pelvis of the kidney MP:0011488 abnormal ureterovesical junction morphology any structural anomaly of the valve-like structure found at the site of entry of the ureter into the urinary bladder, normally displays an oblique angulation through the detrusor to avoid reflux of urine up the ureters and the kidney MP:0011489 ureteropelvic junction atresia congenital absence or closure of the connection between the ureter and the renal pelvis MP:0011490 ureteropelvic junction stenosis abnormal narrowing or constriction of the junction between the ureter and the renal pelvis MP:0011491 ureteropelvic junction obstruction a partial or total blockage of the flow of urine through the junction of the renal pelvis and the proximal ureter MP:0011492 ureterovesical junction obstruction a partial or total blockage of the valve-like structure found at the site of entry of the ureter into the urinary bladder MP:0011493 double ureter two ureters open separately into the renal pelvis superiorly and drain separately into the urinary bladder or genital tract; if two ureteral buds arise from the Wolffian duct, a duplex kidney with complete ureteral duplication ensues where the additional ureter may result in a ureterocele, or an ectopic ureter MP:0011494 abnormal pigmentation pattern hair and/or skin coloration shows specific and consistent deviations from an expected display MP:0011495 abnormal head shape any anomaly in the characteristic surface outline or contour of a head of an organism MP:0011496 abnormal head size anomaly in the average size of the portion of the body containing the brain and organs of sight, hearing, taste, and smell MP:0011497 abnormal glomerular capsule visceral layer morphology any structural anomaly of the inner layer of the glomerular capsule surrounding the capillary endothelial cells and composed of highly specialized epithelial cells (podocytes) that are separated by filtration slits; the visceral layer is separated from the outer parietal layer by the urinary space (also known as the Bowman's or capsular space) MP:0011498 abnormal glomerular capsule parietal layer morphology any structural anomaly of the outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium MP:0011499 abnormal glomerular capsule space morphology any structural anomaly of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries MP:0011500 decreased glomerular capsule space reduced volume of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries MP:0011501 increased glomerular capsule space increased volume of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries MP:0011502 parietal capsular epithelium metaplasia a metaplastic change or transformation of the single layer of the parietal epithelium of Bowman's capsule from the normal structural appearance of simple squamous epithelium to a cuboidal or low columnar epithelium; also referred to as a prominent parietal epithelium MP:0011503 distended jejunum an expansion in the volume of the portion of the small intestine that extends from the duodenum to the ileum MP:0011504 abnormal limb long bone morphology any structural anomaly of any of the several elongated bones of the extremities MP:0011505 camptomelia a skeletal dysplasia characterized by the bending of the long bones of the extremities MP:0011506 glomerular crescent formation of a crescent-shaped (semi-lunar) glomerular lesion corresponding to extracapillary proliferation of Bowman's capsular epithelium and acquiring a fibroblast-like spindled morphology, possibly stimulated by release of fibrinogen from a ruptured glomerular basement membrane; epithelial crescents occur in aggressive forms of glomerulonephritis, may be accompanied by collagen and fibrin deposition and/or monocyte and macrophage proliferation, may protrude into Bowman's space, and ultimately compress and destroy the glomerular tuft MP:0011507 abnormal kidney thrombosis any anomaly in the formation or presence of one or more thrombi within the blood vessel network of the organ of secretion MP:0011508 abnormal glomerular capillary thrombosis any anomaly in the formation or presence of one or more thrombi within the renal glomerular capillaries MP:0011509 dilated glomerular capillary stretched or widened aperture of the luminal space of one or more of the small branching blood vessels in the kidney glomerulus that receive blood from the kidney afferent arterioles MP:0011510 biventricular, discordant atrioventricular connection MP:0011511 biventricular, ambiguous atrioventricular connection MP:0011512 mesangial cell interposition spreading of mesangial cells into the contiguous space between the adjacent glomerular endothelial cells and the glomerular basement membrane (GBM) MP:0011513 abnormal vertebral artery morphology any structural anomaly of the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck MP:0011514 skin hemorrhage bleeding into the skin MP:0011515 purpura a smooth, moderately sized hemorrhagic area, typically dark red to reddish purple, resulting from extarvasation of blood into the skin, mucous membrane, or serosal surface; a pupura becomes brown-yellow as it fades and does not blanch on applying pressure MP:0011516 aspartylglucosaminuria high urinary levels of aspartylglucosamine, a derivative of aspartic acid; caused by deficient activity of the enzyme N-aspartyl-beta-glucosaminidase (aspartylglucosaminidase) which normally cleaves long sugar chains known as oligosaccharides in the lysosome MP:0011517 hyperoxaluria abnormally high levels of oxalic acid or oxalates in the urine; many metal ions form insoluble precipitates with oxalate, a prominent example being calcium oxalate, the primary constituent of the most common kind of kidney stones MP:0011518 abnormal cell chemotaxis any anomaly in the directed movement of a motile cell guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) MP:0011519 abnormal placenta labyrinth size anomaly in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood MP:0011520 increased placental labyrinth size increase in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood MP:0011521 decreased placental labyrinth size reduction in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood MP:0011522 abnormal placental labyrinth villi morphology any structural anomaly of the vascularized and branched structures arising from the rodent trophoblast-derived epithelium that allow an increase its surface area for the efficient exchange of nutrients and wastes between the maternal and fetal circulation MP:0011523 thin placenta labyrinth decrease in the width of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood MP:0011524 thick placenta labyrinth increase in the width of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood MP:0011525 abnormal placenta intervillous maternal lacunae morphology any structural anomaly of the spaces of the placenta occupied by maternal blood, into which the fetal labyrinth villi project MP:0011526 abnormal placenta fetal blood space morphology any structural anomaly of the spaces of the placenta occupied by fetal blood, primarily within the fetal labyrinth villi MP:0011527 disorganized placental labyrinth derangement of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood MP:0011528 abnormal placental labyrinth villi branching morphogenesis any anomaly in the process in which the branches of the fetal placental villi are generated and organized from the trophoblast-derived epithelium MP:0011529 increased placenta intervillous maternal lacunae size increased size of the spaces of the placenta occupied by maternal blood, into which the fetal labyrinth villi project MP:0011530 fused radius and ulna anomaly of the radius and ulna resulting in some portion of or all the two bones being merged together MP:0011531 abnormal syncytiotrophoblast morphology any structural anomaly of the multi-nucleated, terminally differentiated syncytial epithelial layer of the placental villi that forms the major nutrient transport surfaces within the labyrinth layer of the rodent placenta MP:0011532 decreased urine major urinary protein level reduced amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine MP:0011533 increased urine major urinary protein level increased amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine MP:0011534 granular kidney a kidney in which fairly uniform, diffusely and evenly situated foci of scarring of the interstitial tissue of the cortex (and sometimes scarring of glomeruli), and the associated slight degree of bulging of groups of dilated tubules, leads to the development of a minutely bosselated surface; such kidneys are seen in arteriolar nephrosclerosis or chronic glomerulonephritis MP:0011535 increased urination frequency increased frequency of urination episodes; urination at short frequent intervals occurs without an increase in daily volume of urinary output and may be caused by reduced bladder capacity or urinary tract infection MP:0011536 decreased urination frequency decreased frequency of urination episodes; urination at long intervals occurs without an decrease in daily volume of urinary output MP:0011537 uraturia passage of an increased amount of any salt or ester of uric acid (urate) in the urine MP:0011538 abnormal urine hormone level any change in the urine amount of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs MP:0011539 abnormal urine aldosterone level any change in the urine amount of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule MP:0011540 increased urine aldosterone level an increased amount of aldosterone in the urine compared to the normal state MP:0011541 decreased urine aldosterone level a reduced amount of aldosterone in the urine compared to the normal state MP:0011542 abnormal urine antidiuretic hormone level any change in the urine amount of the polypeptide hormone secreted by the posterior lobe of the pituitary gland (neurohypophysis) that increases mean arterial pressure by promoting vasoconstriction and reduces excretion of urine by increasing the reabsorption of water by the kidney tubules MP:0011543 increased urine antidiuretic hormone level an increased amount of antidiuretic hormone in the urine compared to the normal state MP:0011544 decreased urine antidiuretic hormone level a reduced amount of antidiuretic hormone in the urine compared to the normal state MP:0011545 abnormal urine progesterone level any change in the urine amount of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy MP:0011546 increased urine progesterone level an increased amount of progesterone in the urine compared to the normal state MP:0011547 decreased urine progesterone level a reduced amount of progesterone in the urine compared to the normal state MP:0011548 abnormal urine corticosterone level any change in the urine amount of the corticosteroid produced in the adrenal cortex that induces glycogen deposition and regulates sodium conservation and potassium secretion MP:0011549 increased urine corticosterone level an increased amount of corticosterone in the urine compared to the normal state MP:0011550 decreased urine corticosterone level a reduced amount of corticosterone in the urine compared to the normal state MP:0011551 variegated eye pigmentation pattern an irregular and random patchwork of two or more colors in the eye MP:0011552 abnormal urine deoxycorticosterone level any change in the urine amount of the steroid hormone secreted by the adrenal cortex, related to corticosterone and involved in regulating water and electrolyte balance MP:0011553 increased urine deoxycorticosterone level an increased amount of deoxycorticosterone in the urine compared to the normal state MP:0011554 decreased urine deoxycorticosterone level a reduced amount of deoxycorticosterone in the urine compared to the normal state MP:0011555 increased urine microglobulin level greater than the normal amount of any globulin (or any fragment of a globulin) of low molecular weight in the urine MP:0011556 increased urine beta2-microglobulin level greater than the normal amount of beta2-microglobulin in the urine; may indicate renal tubule disease, drug-induced renal toxicity, heavy metal-induced renal disease, lymphomas, leukemia, or myeloma MP:0011557 increased susceptibility to induced choroid neovascularization increased rate or amount of new growth of new, abnormal blood vessels that originate in the choroid through a break in the Bruch membrane into the sub-retinal pigment epithelium or subretinal space and may result in visual loss as a result of chemical or mechanical manipulation (e.g. laser-induced trauma) MP:0011558 abnormal urine insulin level any change in the amount of insulin in the urine MP:0011559 increased urine insulin level a greater amount of insulin in the urine compared to the normal state MP:0011560 decreased urine insulin level a reduced amount of insulin in the urine compared to the normal state MP:0011561 renal glomerulus lipidosis presence of lipid deposits and/or lipid-laden foam cells in the renal glomerular tufts MP:0011562 abnormal urine prostaglandin level any change in the urinary amount of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation MP:0011563 increased urine prostaglandin level a greater amount of any prostaglandin in the urine compared to the normal state MP:0011564 decreased urine prostaglandin level a reduced amount of any prostaglandin in the urine compared to the normal state MP:0011565 kidney papillary hypoplasia decrease in the number of normal cells in normal arrangement in the kidney papilla, typically resulting in decreased size MP:0011566 abnormal complement protein level deviation from the normal levels, or accumulation of the proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes MP:0011567 increased renal glomerulus lobularity distortion of the renal glomerular architecture usually accompanied by increased mesangial cell proliferation and following crowding of the proliferated cells towards the axis of the capillary loops and peripheral recanalization, giving the glomerular tuft a lobular or hypersegmented appearance MP:0011568 decreased foot pigmentation visually detectable dilution of pigment present on the foot surface MP:0011569 abnormal azygos vein morphology any structural anomaly of the unpaired vein which in humans arises from the right ascending lumbar vein or the vena cava, enters the thorax through the aortic orifice in the diaphragm, and terminates in the superior vena cava; unlike humans, mice have a single and left-sided azygos vein that develops from the paired embryonic cardinal venous system and drains most of the right and left thoracic walls into the left anterior vena cava MP:0011570 esophageal achalasia failure of the normal relaxation of the lower esophageal sphincter associated with the uncoordinated contractions of the thoracic esophagus, resulting in functional obstruction MP:0011571 enlarged inferior vena cava valve increased size of the semicircular fold of endocardium located on the right atrium at the point of attachment of the inferior vena cava MP:0011572 abnormal aorta bulb morphology any structural anomaly of the portion of the left ventricular outflow tract delineated by the sinotubular ridge superiorly and the bases of the valve leaflets inferiorly; it comprises the aortic sinuses, the aortic valve leaflets, the commissures, and the interleaflet triangles MP:0011573 abnormal sinotubular junction morphology any structural anomaly of the point in the ascending aorta where the aortic sinuses end and the aorta becomes a tubular structure MP:0011574 dilated sinotubular junction the luminal space of the sinotubular junction is increased in diameter or area MP:0011575 dilated aorta bulb the luminal space of the aorta bulb is increased in volume or area, usually with an increase of contained fluid MP:0011576 absent cervical atlas absence of the first (topmost, C1) cervical vertebra which supports the globe of the head MP:0011577 abnormal lipoprotein lipase activity anomaly in the ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate MP:0011578 increased lipoprotein lipase activity greater ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate MP:0011579 decreased lipoprotein lipase activity reduced ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate MP:0011580 abnormal triglyceride lipase activity anomaly in the ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion MP:0011581 increased triglyceride lipase activity greater ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion MP:0011582 decreased triglyceride lipase activity reduced ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion MP:0011583 abnormal alkaline phosphatase activity anomaly in the ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum MP:0011584 increased alkaline phosphatase activity greater ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum MP:0011585 decreased alkaline phosphatase activity reduced ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum MP:0011586 abnormal ornithine carbamoyltransferase activity anomaly in the ability to catalyze the reaction: carbamoyl phosphate + L-ornithine = phosphate + L-citrulline MP:0011587 increased ornithine carbamoyltransferase activity greater ability to catalyze the reaction: carbamoyl phosphate + L-ornithine = phosphate + L-citrulline MP:0011588 decreased ornithine carbamoyltransferase activity reduced ability to catalyze the reaction: carbamoyl phosphate + L-ornithine = phosphate + L-citrulline MP:0011589 abnormal hormone-sensitive lipase activity anomaly in the ability to catalyze the reactions: diacylglycerol + H2O = monoacylglycerol + a carboxylate; triacylglycerol + H2O = diacylglycerol + a carboxylate; and monoacylglycerol + H2O = glycerol + a carboxylate MP:0011590 increased hormone-sensitive lipase activity greater ability to catalyze the reactions: diacylglycerol + H2O = monoacylglycerol + a carboxylate; triacylglycerol + H2O = diacylglycerol + a carboxylate; and monoacylglycerol + H2O = glycerol + a carboxylate MP:0011591 decreased hormone-sensitive lipase activity reduced ability to catalyze the reactions: diacylglycerol + H2O = monoacylglycerol + a carboxylate; triacylglycerol + H2O = diacylglycerol + a carboxylate; and monoacylglycerol + H2O = glycerol + a carboxylate MP:0011592 abnormal catalase activity anomaly in the ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O MP:0011593 increased catalase activity greater ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O MP:0011594 decreased catalase activity reduced ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O MP:0011595 abnormal purine-nucleoside phosphorylase activity anomaly in the ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate MP:0011596 increased purine-nucleoside phosphorylase activity greater ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate MP:0011597 decreased purine-nucleoside phosphorylase activity reduced ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate MP:0011598 abnormal phosphatidylcholine-sterol O-acyltransferase activity anomaly in the ability to catalyze the reaction: phosphatidylcholine + a sterol = a sterol ester + 1-acylglycerophosphocholine MP:0011599 increased phosphatidylcholine-sterol O-acyltransferase activity greater ability to catalyze the reaction: phosphatidylcholine + a sterol = a sterol ester + 1-acylglycerophosphocholine MP:0011600 decreased phosphatidylcholine-sterol O-acyltransferase activity reduced ability to catalyze the reaction: phosphatidylcholine + a sterol = a sterol ester + 1-acylglycerophosphocholine MP:0011601 abnormal glutathione peroxidase activity anomaly in the ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O MP:0011602 increased glutathione peroxidase activity greater ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O MP:0011603 decreased glutathione peroxidase activity reduced ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O MP:0011604 abnormal glucokinase activity anomaly in the ability to catalyze the reaction: ATP + D-glucose = ADP + D-glucose-6-phosphate MP:0011605 increased glucokinase activity greater ability to catalyze the reaction: ATP + D-glucose = ADP + D-glucose-6-phosphate MP:0011606 decreased glucokinase activity reduced ability to catalyze the reaction: ATP + D-glucose = ADP + D-glucose-6-phosphate MP:0011607 abnormal glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity anomaly in the ability to catalyze the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD+ = 3-phospho-D-glyceroyl phosphate + NADH + H+ MP:0011608 increased glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity greater ability to catalyze the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD+ = 3-phospho-D-glyceroyl phosphate + NADH + H+ MP:0011609 decreased glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity reduced ability to catalyze the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD+ = 3-phospho-D-glyceroyl phosphate + NADH + H+ MP:0011610 abnormal primordial germ cell apoptosis change in the timing or the number of primordial germ cells undergoing programmed cell death MP:0011611 abnormal circulating ghrelin level any anomaly in the blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland; in addition to stimulating appetite and growth, ghrelin also plays various roles in energy homeostasis, neuropathy, and in the cardiovascular and immune systems MP:0011612 increased circulating ghrelin level greater than the normal blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that normally stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland MP:0011613 decreased circulating ghrelin level less than the normal blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that normally stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland MP:0011614 slow aging later than normal occurrence of the normal signs of aging MP:0011615 submucous cleft palate a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate MP:0011616 abnormal nonassociative learning anomaly in the process of a simple form of learning whereby the repeated presence of a stimulus leads to a change in the probability or strength of the response to that stimulus; there is no association of one type of stimulus with another, rather it is a generalized response to the environment MP:0011617 abnormal habituation anomaly in the process in which there is a progressive decline of behavioral response probability with a repetitive stimulus MP:0011618 abnormal sensitization anomaly in the process in which a progressive amplification of a behavioral response follows repeated administration of a stimulus MP:0011619 abnormal dishabituation anomaly in the process in which there is a temporary recovery of response to a stimulus when a novel stimulus is added MP:0011620 abnormal habituation to a new environment anomaly in the process in which there is a progressive decline of behavioral response probability with an exposure to a new environment MP:0011621 abnormal habituation to a novel object anomaly in the process in which there is a progressive decline of behavioral response probability with an exposure to a novel object MP:0011622 abnormal habituation to a novel odor anomaly in the process in which there is a progressive decline of behavioral response probability with an exposure to a novel odor MP:0011623 abnormal habituation to xenobiotic anomaly in the process in which there is a progressive decline of behavioral response probability with exposure to xenobiotics MP:0011624 abnormal sensitization to xenobiotic anomaly in the process in which a progressive amplification of a behavioral response follows repeated administration of a xenobiotic MP:0011625 cystolithiasis caliculi, or a solid concretion or crystal aggregation, found in the urinary bladder; often embedded in a glycoprotein matrix which may also contain some nonglycoproteins when associated with infection MP:0011626 orotic acid urinary bladder stones presence of caliculi, or a solid concretion or crystal aggregation formed from orotic acid, found in the urinary bladder; often embedded in a glycoprotein matrix which may also contain some nonglycoproteins when associated with infection MP:0011627 decreased skin pigmentation visually detectable dilution of pigment present in the skin MP:0011628 increased mitochondrial number greater than normal number of the cellular organelles responsible for energy production MP:0011629 decreased mitochondrial number fewer than normal number of the cellular organelles responsible for energy production MP:0011630 increased mitochondrial size enlarged the cellular organelles responsible for energy production MP:0011631 decreased mitochondrial size reduced size of the cellular organelles responsible for energy production MP:0011632 dilated mitochondrion the luminal space of one or more mitochondria is increased in volume or area, usually with an increase of contained fluid MP:0011633 abnormal mitochondrial shape any anomaly in the characteristic surface outline or contour of a mitochondria MP:0011634 abnormal mitochondrial inner membrane morphology any structural anomaly of the inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope, which is highly folded to form cristae MP:0011635 abnormal mitochondrial crista morphology Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, where the enzymes of electron transport and oxidative phosphorylation are found; the shape can vary with the respiratory state of the mitochondria MP:0011636 disorganized mitochondrial cristae derangement of the pattern of the inward folds of the mitochondrial inner membrane MP:0011637 abnormal mitochondrial matrix morphology any structural anomaly of the gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion, and contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation MP:0011638 abnormal mitochondrial chromosome morphology any structrual anomaly of the chromosome found in the mitochondrion of a eukaryotic cell MP:0011639 decreased mitochondrial DNA content less than expected amount of DNA contained within the mitochondria of a mammalian cell MP:0011640 abnormal aorta collagen fibril morphology any structural anomaly of the connective tissue bundles in the extracellular matrix of aorta tissue that are composed of collagen, and play a role in tissue strength and elasticity MP:0011641 abnormal pulmonary collagen fibril morphology any structural anomaly of the connective tissue bundles in the extracellular matrix of pulmonary tissue that are composed of collagen, and play a role in tissue strength and elasticity MP:0011642 abnormal bone collagen fibril morphology any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity MP:0011643 abnormal tendon collagen fibril morphology any structural anomaly of the connective tissue bundles in the extracellular matrix of tendon tissue that are composed of collagen, and play a role in tissue strength and elasticity MP:0011644 abnormal oviduct epithelium motile cilium morphology any structural anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the oviduct MP:0011645 absent oviduct epithelium motile cilium absence of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the oviduct MP:0011646 abnormal sinoatrial valve morphology any structural anomaly of the valve at the sinoatrial orifice at the opening of the sinus venosus into the primordial right atrium MP:0011647 absent sinoatrial valve absence of the valve at the sinoatrial orifice at the opening of the sinus venosus into the primordial right atrium MP:0011648 thick heart valve cusps an increase in the heart cusp wall thickness MP:0011649 immotile respiratory cilia failure of the multiple epithelial tiny, motile hair-like projections of the repiratory tract epithelium to beat with a characteristic whip-like pattern in order to promote transport of fluids and other cells across the epithelium of the respiratory tract MP:0011650 abnormal cornea stroma collagen fibril morphology any structural anomaly of the connective tissue bundles in the extracellular matrix of corneal stroma that are composed of collagen, and play a role in tissue strength and elasticity MP:0011651 abnormal circulating histidine level the amount of the amino acid histidine in the blood is more or less than expected MP:0011652 increased circulating histidine level the amount of the amino acid histidine in the blood is more than expected MP:0011653 decreased circulating histidine level the amount of the amino acid histidine in the blood is less than expected MP:0011654 histidinuria increased excretion of histidine and related imidazole metabolites in urine MP:0011655 abnormal systemic artery morphology any structural anomaly of the arteries that carry oxygenated blood away from the heart to the body, as opposed to the pulmonary arteries, which carry deoxygenated blood to the lungs MP:0011656 coronary arterio-venous fistula an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation MP:0011657 coronary-cameral fistula an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering a chamber of the heart (coronary-cameral fistula) MP:0011658 interrupted aortic arch, type a complete discontinuation/blockage between the ascending and descending aorta with the interruption located distal to the subclavian artery that is ipsilateral to the second carotid artery MP:0011659 interrupted aortic arch, type b complete discontinuation/blockage between the ascending and descending aorta with the interruption located between second carotid artery and ipsilateral subclavian artery MP:0011660 ectopia cordis congenital condition in which the heart is exposed and/or protruding from the thorax due to abnormal development of the sternum, pericardium and/or the abdominal wall MP:0011661 persistent truncus arteriosus type i complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type i is characterized by origin of a single pulmonary trunk from the left lateral aspect of the common trunk, with branching of the left and right pulmonary arteries from the pulmonary trunk MP:0011662 persistent truncus arteriosus type ii complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches from the posterolateral aspect of the common arterial trunk MP:0011663 persistent truncus arteriosus type iii complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; in type iii the branch pulmonary arteries originate independently from the common arterial trunk or aortic arch, most often from the left and right lateral aspects of the trunk; this occasionally occurs with origin of one pulmonary artery from the underside of the aortic arch, usually from a ductus arteriosus MP:0011664 persistent truncus arteriosus type iv complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type i is a form of the lesion with neither pulmonary arterial branch arises from the common trunk, and is more commonly recognized to be a form of pulmonary atresia with ventricular septal defect rather than truncus arteriosus MP:0011665 d-loop transposition of the great arteries complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and the great arteries are parallel rather than crossing MP:0011666 double outlet right ventricle, ventricular defect committed to aorta a form of DORV in which a ventricular septal defect is located just below the aorta; the left ventricular outflow is directed toward the aorta, resulting in aortic oxygen saturations that exceed pulmonary saturations; pulmonary stenosis is also often present MP:0011667 double outlet right ventricle with atrioventricular septal defect a form of DORV in which there is also a complete atrioventricular canal MP:0011668 double outlet right ventricle, Taussig bing type a form of DORV in which blood from the left ventricle passes through a ventricular septal defect to the pulmonary artery, and blood from the right ventricle is directed to the aorta MP:0011669 double outlet right ventricle, doubly committed ventricular septal defect a form of DORV in which there are two ventricular septal defects, one below the aorta and one below the pulmonary artery and the left ventricular outflow is equally shared by the aorta and pulmonary artery MP:0011670 double outlet right ventricle, noncommitted ventricular septal defect a form of DORV in which the ventricular septal defect is distant from both the aorta and pulmonary artery and blood mixes in the right ventricle before entering these vessels, with the majority of deoxygenated blood entering the aorta MP:0011671 balanced complete atrioventricular canal a balanced complete atrioventricular septal defect occurs when the atrioventricular junction is connected equally to the right and left ventricles so that each ventricle receives a similar amount of blood and the ventricles are symmetrical in size MP:0011672 unbalanced complete atrioventricular canal, left dominant an unbalanced form of a complete atrioventricular septal defect where the atrioventricular junction is predominantly committed to the left ventricle; in left ventricular dominance, there can be hypoplasia of the right ventricle and pulmonary artery MP:0011673 unbalanced complete common atrioventricular canal an unbalanced complete atrioventricular septal defect occurs when the atrioventricular junction is predominantly committed to either the right or left ventricle, leading to hypoplasia of the opposing ventricle receiving the smaller amount of blood MP:0011674 multiple major aortopulmonary collateral arteries small ectopic arteries or arterial branches that arise from the aorta or its first-order branches and are distally connected to the pulmonary arterial vasculature MP:0011675 double aortic arch, balanced arches defect in which the aortic arch splits into equally sized large left and right branches, encircling the trachea and esophagus, before becoming one tube to go to the lower body MP:0011676 aortic arch obstruction any impediment or blockage causing a cessation or reversal of the normal flow of the blood through the aortic arch MP:0011677 abnormal olfactory sensory neuron physiology any functional anomaly of cells that innervate the olfactory epithelium and are responsible for receiving and transmitting odorant signals MP:0011678 abnormal vomeronasal sensory neuron physiology any functional anomaly of chemosensitive cells that innervate the vomernasal organ epithelium and are responsible for receiving and transmitting pheromone signals MP:0011679 abnormal vomeronasal sensory neuron morphology any structural anomaly of chemosensitive cells that innervate the vomernasal organ epithelium and are responsible for receiving and transmitting pheromone signals MP:0011680 tricuspid valve hypoplasia decrease in the number of normal cells in normal arrangement in the tricuspid valve, typically resulting in decreased size MP:0011681 atrium cyst presence of one or more abnormal membranous sacs in any portion of the paired upper chambers of the heart MP:0011682 renal glomerulus cyst presence of one or more abnormal membranous sacs in any portion of the renal glomerulus MP:0011683 dual inferior vena cava presence of two inferior vena cavae, often resulting from the persistence of both supracardinal veins during development; the two structures may be symmetric or asymmetric but typically join together at the renal vein MP:0011684 coronary-cameral fistula to heart right ventricle an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle MP:0011685 abnormal limb paddle morphology any structural anomaly of the transient developing limb structure that develops from the limb bud; it is a dorsoventral flattening of the limb bud structure and develops into the foot plate MP:0011686 increased epidermal stem cell number greater than expected number of somatic stem cells that are part of the epidermis MP:0011687 decreased epidermal stem cell number a reduction in the number of somatic stem cells that are part of the epidermis MP:0011688 absent epidermal stem cells absence of the somatic stem cells that are part of the epidermis MP:0011689 absent neutrophils absence of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes MP:0011690 absent basophils absence of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size; these cells contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation MP:0011691 absent bronchioalveolar stem cells absence of the respiratory stem cells found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury MP:0011692 increased chondrocyte number greater number of polymorphic cells that form cartilage MP:0011693 absent chondrocytes absence of polymorphic cells that form cartilage MP:0011694 absent eosinophils any structural anomaly of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin MP:0011695 absent hematopoietic stem cells absence of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages MP:0011696 absent mast cells any structural anomaly of a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation; progenitors leave bone marrow and mature in connective and mucosal tissue; mature mast cells are found in all tissues, except the bloodstream. MP:0011697 lens vacuoles abnormal presence of fluid-filled cavities in the cytoplasm of the transparent structure of the eye responsible for focusing light MP:0011698 abnormal brown adipose tissue physiology any functional anomaly in the thermogenic form of adipose tissue that is composed of brown adipocytes MP:0011699 abnormal brown adipose tissue thermogenesis any anomaly in the process of heat production in brown adipocytes MP:0011700 increased cumulus expansion greater ability of the ovarian cumulus cells to secrete an extensive extracellular matrix required for successful fertilization MP:0011701 decreased cumulus expansion reduced ability of the ovarian cumulus cells to secrete an extensive extracellular matrix required for successful fertilization MP:0011702 abnormal fibroblast proliferation anomaly in the ability of a fibroblast cell population to undergo expansion by cell division MP:0011703 increased fibroblast proliferation greater the expansion rate of a fibroblast cell population by cell division MP:0011704 decreased fibroblast proliferation reduction in the expansion rate of a fibroblast cell population by cell division MP:0011705 absent fibroblast proliferation failure of a fibroblast cell population to undergo expansion by cell division MP:0011706 abnormal fibroblast migration any anomaly of fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium MP:0011707 impaired fibroblast cell migration failure of cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium MP:0011708 decreased fibroblast cell migration reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium MP:0011709 increased fibroblast cell migration greater frequency of or more rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium MP:0011710 enhanced osteoblast differentiation increased ability or increased rate of production of skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell MP:0011711 impaired osteoblast differentiation reduced ability or inability to produce skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell MP:0011712 arrested osteoblast differentiation inability to produce skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell, due to a block in the process to create a mature osteoblast MP:0011713 abnormal circulating interleukin-8 level anomaly in the amount in the blood of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells MP:0011714 increased circulating interleukin-8 level increase in the amount in the blood of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells MP:0011715 decreased circulating interleukin-8 level reduction in the amount in the blood of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells MP:0011716 abnormal interleukin-8 secretion anomaly in the production or release of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells MP:0011717 increased interleukin-8 secretion increase in the production or release of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells MP:0011718 decreased interleukin-8 secretion reduction in the production or release of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells MP:0011719 abnormal natural killer cell mediated cytotoxicity any anomaly in the process of directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors MP:0011720 abnormal ossification involved in bone remodeling any anomaly in the formation or growth of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in response to injury or other physical, physiological or environmental stress stimuli MP:0011721 abnormal bone mineralization involved in bone maturation anomaly in the deposition of calcium phosphate in bone tissue, involved in the progression of the developing skeleton from its formation to its mature state MP:0011722 abnormal ossification involved in bone maturation anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in the progression of the developing skeleton from its formation to its mature state MP:0011723 ectopic neuron appearance of a neuron or group of neurons in a region where it is not normally found MP:0011724 ectopic cortical neuron appearance of a cerebral cortical neuron or group of cerebral cortical neurons in a region where it is not normally found MP:0011725 neuronal leptomeningeal ectopia during development, migrating cortical neurons fail to stop at the border of the marginal zone and continue through this layer and occasionally through the pial-glial layer into the meninges MP:0011726 ectopic Cajal-Retzius cell appearance of a Cajal-Retzius cell in a region where it is not normally found MP:0011727 ectopic ovary one or both of the ovaries located outside the normal pathway of descent from the lumbar region to a shallow depression on the lateral wall of the pelvis known as the ovarian fossa; the fossa usually lies beneath the external iliac artery and in front of the ureter and the internal iliac artery; ovarian maldescent may be associated with Mullerian malformations MP:0011728 abnormal pineal gland physiology any functional anomaly of the small flattened endocrine gland located in the depression between the superior colliculi of the brain MP:0011729 abnormal pineal gland melatonin secretion anomaly in the production and/or release of a catecholamine hormone by the pineal body that controls behavior influenced by seasonal changes MP:0011730 increased myelin sheath thickness increase in the depth of the insulating envelope that surrounds nerve fibers or axons MP:0011731 decreased myelin sheath thickness decrease in the depth of the insulating envelope that surrounds nerve fibers or axons MP:0011732 decreased somite size reduced size of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo MP:0011733 fused somites a defect in which there is an appearance of a single enlarged somite resulting from partial or complete fusion of the two somitic anlage MP:0011734 abnormal urine ammonia level any change in the amount of ammonia in urine MP:0011735 increased urine ammonia level a greater amount of ammonia in the urine compared to the normal state MP:0011736 decreased urine ammonia level a reduced amount of ammonia in the urine compared to the normal state MP:0011737 hypodipsia abnormally diminished thirst with a consequential reduction of fluid intake; often related to dysfunction of the thirst osmoreceptor in the anterior hypothalamus MP:0011738 anasarca widespread swelling due to effusion of serous fluid into the extracellular space, especially into the connective tissue MP:0011739 abnormal Boettcher cell morphology any structural anomaly of the polyhedral cells located on the basilar membrane beneath the Claudius cells in the basal turn of the cochlea, and considered supporting cells for the organ of Corti; Boettcher cells interweave with each other, project microvilli into the intercellular space, show high levels of calmodulin, and may be involved in mediating Ca(2+) regulation and ion transport MP:0011740 abnormal urine nitrite level anomaly in the amount of nitrite (NO2-) in the urine; may be suggestive of impaired nitric oxide (NO) release, or of a urinary tract infection MP:0011741 increased urine nitrite level higher than normal amount of nitrite (NO2-) in the urine, usually indicative of a urinary tract infection; commonly a result of the action of Escherichia coli, Proteus vulgaris, and other microorganisms that may reduce nitrates MP:0011742 decreased urine nitrite level lower than normal amount of nitrite (NO2-) in the urine; suggestive of impaired nitric oxide (NO) release MP:0011743 abnormal Golgi apparatus morphology any structural anomaly of the compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack; Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations MP:0011744 abnormal kidney epithelial cell primary cilium physiology any functional anomaly of the non-motile primary cilia found on renal epithelial cells and thought to act as a mechanical sensor to detect renal tubular fluid; impaired mechanical response of primary cilia to physiological fluid flow, or abnormalities in intracellular Ca2+ increase in response to fluid stress may alter renal (tubular) cell proliferation and differentiation and lead to renal cyst formation MP:0011745 isolation of the left subclavian artery the loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus MP:0011746 spleen fibrosis invasion of fibrous connective tissue into the spleen, often resulting from inflammation or injury MP:0011747 myelofibrosis appearance of fibrous connective tissue in the bone marrow, often resulting from inflammation or injury; especially replacement of the marrow with collagenous connective tissue fibers, frequently accompanied by splenomegaly and anemia or cytopenias MP:0011748 intestinal fibrosis formation of fibrous tissue in any part of the intestine as a result of repair or a reactive process MP:0011749 perivascular fibrosis invasion of fibrous connective tissue into the perivascular tissue, often resulting from inflammation or injury MP:0011750 abnormal seminiferous tubule epithelium morphology any structural anomaly of the stratified epithelial lining of the seminiferous tubules, consisting of the developing spermatozoa and the supporting Sertoli cells, which are tall, columnar type cells that line the tubule MP:0011751 abnormal X-Y chromosome synapsis during male meiosis an anomaly in the process in which the side by side pairing and physical juxtaposition of X and Y chromosomes is created at the metaphase plate, usually resulting in incorrect sex chromosome disjunction MP:0011752 abnormal X-Y chromosome synaptonemal complex assembly during male meiosis an anomaly in the process in which forms the structure that holds the X and Y chomosomes together during prophase I of male meiosis and results in exchange of X and Y chromatin during prophase I, or results in exchange of X and Y chromatin outside the chromatin associated with the pseudoautosomal region MP:0011753 decreased podocyte number reduced number of the modified epithelial cells of the visceral layer of the Bowman capsule in the renal corpuscle MP:0011754 abnormal kidney collecting duct intercalated cell morphology any structural anomaly of any of the functionally distinct subtypes of cells (alpha or beta) found on the kidney collecting duct epithelium that regulate acid-base homeostasis and play an important role in the kidney's response to acidosis and alkalosis; alpha-intercalated cells secrete acid whereas beta-intercalated cells secrete base; metabolic acidosis results in the conversion of beta- cells to alpha-intercalated cells giving the kidney a greater ability to secrete protons and return pH to the normal range MP:0011755 abnormal kidney collecting duct alpha-intercalated cell morphology any structural anomaly of the tall, columnar epithelial cells found on the kidney collecting duct epithelium which secrete acid (via an apical H+-ATPase and H+/K+ exchanger) in the form of hydrogen ions and reabsorb bicarbonate (via band 3, a basolateral Cl-/HCO3- exchanger);damage to the alpha-intercalated cell's ability to secrete acid can result in distal renal tubular acidosis MP:0011756 abnormal kidney collecting duct beta-intercalated cell morphology any structural anomaly of the shorter, flatter cells found on the kidney collecting duct epithelium which secrete bicarbonate (via pendrin, a specialized apical Cl-/HCO3- exchanger) and reabsorb acid (via a basal H+-ATPase) MP:0011757 abnormal kidney collecting duct principal cell morphology any structural abnormality of the cuboidal epithelial cells found in the collecting ducts of the kidney which regulate sodium and potassium balance via channels located on the cells apical membrane. Aldosterone increases the number of Na+/K+-ATPase pumps that allow increased sodium reabsorption and potassium secretion whereas antidiuretic hormone (vasopressin) determines the expression of aquaporin channels on the cell surface; together, aldosterone and vasopressin let the principal cell control the quantity of water that is reabsorbed MP:0011758 renal ischemia inadequate blood flow to one or both kidneys, or nephrons, usually due to functional constriction or actual obstruction of a blood vessel; a significant cause of renal dysfunction and cortical and medullary necrosis MP:0011759 absent Rathke's pouch absence of the diverticulum arsing from the embryonic buccal cavity from which the anterior lobe of the pituitary gland is developed MP:0011760 abnormal ureteric bud tip morphology any structural anomaly of the terminal ends of the ureteric tree; the ureteric tip cells are proliferating immature cells located at the branching points that induce the adjacent cap mesenchyme to undergo nephrogenesis MP:0011761 abnormal ureteric bud trunk morphology any structural anomaly of the ureteric bud cells that elongate to form a rigid structure (stalk) consisting of polarized epithelial cells without branching; the stalks differentiate into the collecting system of the mature kidney, while the tip cells interact with the adjacent cells of the metanephric mesenchyme, inducing their conversion into nephrons MP:0011762 renal/urinary system inflammation local accumulation of fluid, plasma proteins, and leukocytes in the renal/urinary system; may involve inflammation of the urethra, urinary bladder, ureters or kidneys MP:0011763 urethritis local accumulation of fluid, plasma proteins, and leukocytes in the urethra, usually caused by an infection MP:0011764 ureteritis local accumulation of fluid, plasma proteins, and leukocytes in a ureter, usually caused by infection or by the mechanic irritation of a stone; the epithelial reaction may be cystic if the reaction is liquefaction, or glandular if the epithelial reaction is by metaplasia MP:0011765 oroticaciduria increased level of orotic acid, an intermediate of pyrimidine synthesis, in the urine MP:0011766 abnormal urinary bladder mucosa morphology any structural anomaly of the mucous membrane lining the urinary bladder MP:0011767 ureterocele saccular dilation of the terminal portion of the ureter that protrudes into the lumen of the urinary bladder, probably due to a congenital stenosis of the ureteric orifice meatus; most often associated with a duplicated collection system, where two ureters drain their respective kidney instead of one MP:0011768 abnormal urinary bladder trigone morphology any structural anomaly of the smooth triangular region of the wall of the urinary bladder formed by the two ureteral orifices and the internal urethral orifice; it is an area in which the muscle fibers are closely adherent to the mucosa MP:0011769 urinary bladder fibrosis invasion of fibrous connective tissue into the urinary bladder, often resulting from inflammation or injury MP:0011770 increased urine selenium level greater than normal amount of selenium in the urine MP:0011771 abnormal genital tubercle morphology any structural anomaly of the embryonic anlage of the external genitalia, which emerges as paired swellings ventral to the cloacal membrane, is proposed to be derived from all three germ layers, and gives rise to the penis, clitoris, scrotum, labia, and foreskin; GT development is indistinguishable in male and female mouse embryos until approximately E16, when the urethral plate begins to be masculinized to form the penile urethra, marking the beginning of an androgen-dependent phase of sexual differentiation MP:0011772 genital tubercle hypoplasia decrease in the number of normal cells in normal arrangement in the genital tubercle, typically resulting in decreased size MP:0011773 abnormal urinary bladder vasculature morphology any structural anomaly of the network of tubes that carries blood through the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys MP:0011774 abnormal urinary bladder detrusor smooth muscle morphology any structural anomaly of the bundles of smooth muscle fibers forming the muscular wall of the urinary bladder, which are arranged in a longitudinal and a circular layer and, on contraction, serve to expel urine MP:0011775 rectal atresia congenital absence, closure, or constriction of the lumen of the terminal portion of the intestinal tube adjacent to the anus, leading to abdominal distention after birth MP:0011776 abnormal male urethra morphology any structural anomaly of the male fibromuscular tubular canal which extends from the internal urethral orifice in the urinary bladder to the external urethral orifice at the tip of the penis and provides an exit for urine as well as semen during ejaculation; the male urethra is longer than the urethra of females and comprises three major portions, the (i) prostatic, (ii) membranous (aka intermediate), and (iii) cavernous (aka spongy or penile) MP:0011777 abnormal male prostatic urethra morphology any structural anomaly of the widest and most dilatable part of the male urethra canal which runs almost vertically through the prostate from its base to its apex, lying nearer its anterior than its posterior surface; this portion of the urethral canal is spindle-shaped, being wider in the middle than at either extremity, and narrowest below, where it joins the membranous portion; it is lined by transitional epithelium and contains in its posterior wall, or floor, the orifices of the prostatic utricle, ejaculatory ducts, and prostatic ducts, collectively known as the seminal colliculus (aka verumontanum) MP:0011778 abnormal male membranous urethra morphology any structural anomaly of the shortest, least dilatable, and, with the exception of the external orifice, the narrowest part of the male urethral canal located in the deep perineal pouch and lined by pseudostratified columnar epithelium; it extends downward and forward, with a slight anterior concavity, between the apex of the prostate and the bulb of the urethra, perforating the urogenital diaphragm below and behind the pubic symphysis; the membranous portion of the urethra is completely surrounded by the fibers of the sphincter urethrae membranaceae; on either side near its termination are the bulbourethral glands MP:0011779 abnormal male spongy urethra morphology any structural anomaly of the that longest part of the male urethra contained in the corpus spongiosum and extending from the end of the membranous portion to the external urethral orifice; commencing below the inferior fascia of the urogenital diaphragm it passes forward and upward to the front of the symphysis pubis; and then, in the flaccid condition of the penis, it bends downward and forward; while narrow and of uniform size in the body of the penis, it is dilated behind, within the bulb, and again anteriorly within the glans penis, where it forms the fossa navicularis urethrae; the spongy urethra is lined by pseudostratified columnar epithelium proximally, and by stratified squamous epithelium distally MP:0011780 abnormal female urethra morphology any structural anomaly of the short and relatively simple female fibromuscular tubular canal which extends from the urinary bladder outlet to the perineum adjacent to the anterior wall of the vagina, and opens in the vestibule of the vagina posterior to the clitoris and anterior to the vaginal orifice; small mucus urethral glands (Skene's glands) open along its entire length and drain into a single paraurethral duct, which empties at the lateral margin of the external urethral orifice: its epithelial lining changes from transitional epithelium at the bladder end to non-keratinizing stratified squamous epithelium distally MP:0011781 abnormal bulbourethral gland physiology any functional anomaly of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, which produce a clear, salty, viscous secretion known as pre-ejaculate (aka as pre-ejaculatory fluid, preseminal fluid, or Cowper's fluid) upon sexual stimulation; this fluid is believed to lubricate the urethra for spermatozoa to pass through and neutralize traces of acidic urine in the urethra MP:0011782 abnormal internal urethral orifice morphology any structural anomaly of the usually crescent-shaped opening of the urinary bladder into the urethra, placed at the anteroinferior angle (apex) of the urinary bladder trigone MP:0011783 abnormal ureteral orifice morphology any structural anomaly of the slit-like opening of either ureter into the bladder; normally, the two ureteral orifices are placed at the posterolateral angles of the urinary bladder trigone while the internal urethral orifice is placed at its anteroinferior angle (apex); wide gaping usually indicates vesicoureteral reflux MP:0011784 abnormal urinary bladder neck morphology any structural anomaly of the constricted portion of the urinary bladder, formed by the meeting of its inferolateral surfaces proximal to the opening of the urethra MP:0011785 abnormal urinary bladder fundus morphology any structural anomaly of the base or posterior surface of the urinary bladder, which contains the trigone of the bladder and the outlet where urine empties through the internal urethral orifice MP:0011786 rectourethral fistula an abnormal anatomical passage connecting the urethra and the rectum MP:0011787 abnormal Bartholin's gland morphology any structural anomaly of the paired glands located slightly posterior and to the left and right of the opening of the vagina in the superficial perineal pouch in females; they secrete mucus to lubricate the vagina and are homologous to bulbourethral (Cowper's) glands in males MP:0011788 absent urethra absence or failure to form of any part of the male or female urethra MP:0011789 increased urethra carcinoma incidence greater than the expected number of malignant neoplasms arising from the epithelial lining of the urethra in a given population in a given time period MP:0011790 increased urethral gland adenocarcinoma incidence greater than the expected number of malignant neoplasms arising from urothelial lining or surrounding glands of the urethra in a given population in a given time period MP:0011791 increased bulbourethral gland adenocarcinoma incidence greater than the expected number of malignant neoplasm of epithelial cells in the bulbourethral glands, usually with a glandular organization in a given population in a given time period MP:0011792 abnormal urethral gland morphology any structural anomaly of any of the numerous small mucous-secreting glands located in the wall of the male or female urethra that help protect the epithelium from the corrosive urine MP:0011793 abnormal female urethral gland morphology any structural anomaly of the numerous mucous-secreting glands found in several female mammalian species (including rodents and humans) on the anterior wall of the vagina, around the lower end of the urethra, and possessing a common paraurethral duct which opens (on each side) near the external urethral orifice; they are homologous with the prostate gland in males, have highly variable anatomy, and are believed to be the source of the female ejaculate, a lubricating fluid with a similar consistency to male prostatic fluid that is expelled through the urethra during sexual stimulation; like the male prostate, these glands are susceptible to infection (skenitis), cyst development, and cancer MP:0011794 abnormal male urethral gland morphology any structural anomaly of any of the numerous small mucous-secreting glands located in the wall of the penile urethra MP:0011795 abnormal urinary bladder development incomplete or aberrant differentiation of the distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion MP:0011796 abnormal external urethral orifice morphology any structural anomaly of the external opening or orifice of the urethra through which urine and seminal fluid (in males only) leave the body; in males the meatus presents as a vertical slit normally positioned at the tip of glans penis; in females the meatus is located either within the clitoris or between the clitoris and the vagina in the vulvular vestibule of the female genitalia, depending on the species MP:0011797 blind ureter a ureter ending in a blind-ended segment or pouch MP:0011798 abnormal urinary bladder weight anomaly in the average weight of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys compared to controls MP:0011799 increased urinary bladder weight greater than average weight of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys compared to controls MP:0011800 decreased urinary bladder weight less than average weight of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys compared to controls MP:0011801 urethra obstruction any impediment or blockage of the canal through which urine is discharged from the bladder in most mammals and through which semen is discharged in the male; usually caused by calculus, or plugs composed of proteinaceous material, cellular debris and possibly crystals MP:0011802 seminal vesiculitis local accumulation of fluid, plasma proteins, and leukocytes in the seminal vesicle(s), usually caused by an infection MP:0011803 double kidney pelvis duplication of the funnel shaped proximal portion of the ureter that is formed by convergence of the major calices MP:0011804 increased cell migration increased or faster movement of cells from one site to another, often occurring during developmental or chemotactic processes MP:0011805 decreased cell migration reduced or slower movement of cells from one site to another, often occurring during developmental or chemotactic processes MP:0011806 decreased dermal fibroblast proliferation reduction in the expansion rate of a dermal fibroblast cell population by cell division MP:0011807 decreased lung fibroblast proliferation reduction in the expansion rate of a lung fibroblast cell population by cell division MP:0011808 abnormal myoblast differentiation anomaly in the process in which a relatively unspecialized cell acquires specialized features of a myoblast, a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers MP:0011809 abnormal anoikis anomaly in the apoptosis response triggered by inadequate or inappropriate adherence to substrate e.g. after disruption of the interactions between normal epithelial cells and the extracellular matrix MP:0011810 increased anoikis increase in the apoptosis response triggered by inadequate or inappropriate adherence to substrate e.g. after disruption of the interactions between normal epithelial cells and the extracellular matrix MP:0011811 decreased anoikis reduction in the apoptosis response triggered by inadequate or inappropriate adherence to substrate e.g. after disruption of the interactions between normal epithelial cells and the extracellular matrix MP:0011812 increased cranium length having an increased dorsal-to-ventral distance of the cranium MP:0011813 long maxilla increased length of the upper jaw bone MP:0011814 abnormal pre-pro B cell morphology any structural anomaly of a pro-B cell that CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative. This cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive MP:0011815 increased pre-pro B cell number increased number of pro-B cells that are CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative; this cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive MP:0011816 decreased pre-pro B cell number reduced number of pro-B cells that are CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative; this cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive MP:0011817 absent pre-pro B cells absence of pro-B cells that are CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative; this cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive MP:0011818 abnormal pancreatic beta cell proliferation anomaly in the ability of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas to undergo expansion by cell division MP:0011819 increased pancreatic beta cell proliferation increase in the ability of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas to undergo expansion by cell division MP:0011820 decreased pancreatic beta cell proliferation reduction in the ability of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas to undergo expansion by cell division MP:0011821 abnormal CD8-positive, alpha-beta memory T cell proliferation anomaly in the ability of the CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high, to undergo expansion by cell division MP:0011822 increased CD8-positive, alpha-beta memory T cell proliferation increase in the ability of the a CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high, to undergo expansion by cell division MP:0011823 decreased CD8-positive, alpha-beta memory T cell proliferation reduction in the ability of the a CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high, to undergo expansion by cell division MP:0011824 increased cell chemotaxis increase in the directed movement response of a motile cell guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) MP:0011825 decreased cell chemotaxis reduction in the directed movement response of a motile cell guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) MP:0011826 abnormal lymphocyte chemotaxis any anomaly in the directed movement of a lymphocyte in response to an external stimulus MP:0011827 impaired neuron differentiation decreased production of or inability to produce the mature cells of the nervous system that receive, conduct, and transmit impulses MP:0011828 urinary bladder cyst presence of one or more abnormal membranous sacs, usually filled with a fluid or viscous substance, along the internal lining of the urinary bladder MP:0011829 vesicovaginal fistula an abnormal fistulous tract extending between the bladder and the vagina, with resulting leakage of urine into the vaginal cavity MP:0011830 ectopic hair follicle melanin granules any aberration in normal location of pigment granules in the hair follicle that results in variation from expected hair color MP:0011831 abnormal visual contrast sensitivity any abnormality in the ability to distinguish between increments of light versus dark MP:0011832 abnormal visual acuity any abnormality in the spatial resolution or resolving power of the visual processing system MP:0011833 abnormal cremaster muscle morphology any structural anomaly of the thin layer of skeletal muscle that envelops the spermatic cord and testis of most male mammals in a series of loops; it is a continuation of the obliquus internus, arising from the inguinal ligament and inserting into the crest of the pubis and into the sheath of the rectus abdominis; it is innervated by the genital branch of the genitofemoral nerve and functions to draw the testis up toward the superficial inguinal ring in response to cold or to stimulation of the nerve; in females it is represented by only a few muscle loops that envelop the round ligament of the uterus MP:0011834 abnormal female preputial gland morphology any structural anomaly of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attractivity; unlike other sebaceous glands, they undergo progressive atrophy of the glandular portion with marked ductal ectasia as rodents age; there is no true anatomical equivalent in humans MP:0011835 abnormal urogenital fold morphology any structural anomaly of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora MP:0011836 abnormal cloacal fold morphology any structural anomaly of the pair of mesenchymal swellings (folds) located on either side of the cloacal membrane during the indifferent stage of embryonic development; cranial to the cloacal membrane the folds unite to form the genital tubercle; caudally the folds are subdivided into urogenital folds anteriorly and anal folds posteriorly MP:0011837 abnormal cloacal membrane morphology any structural anomaly of the membrane that covers the embryonic cloaca, formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm; the urorectal septum joins the cloacal membrane and divides it into an anal membrane and a urogenital membrane; the point where the urorectal septum intersects the cloacal membrane is the future site of the perineal body; proliferation of mesoderm and ectoderm around the cloacal membrane produces primordial tissues of the external genitalia in both sexes: the genital tubercle, genital folds, and genital swellings MP:0011838 abnormal navicular fossa morphology any structural anomaly of the dilated terminal portion of the male spongy urethra located in the glans penis right before the external urethral orifice, also referred to as the most distal pendulous urethra; it is lined by stratified squamous, non-keratinizing epithelium; during development, the glans of the penis is initially solid but cannulates to give rise to the navicular fossa MP:0011839 abnormal Guerin's valve morphology any structural anomaly of the fold or valve of mucus membrane on the upper wall of the navicuar fossa MP:0011840 abnormal urethral crest morphology any structural anomaly of the longitudinal mucosal fold in the dorsal wall of the urethra MP:0011841 abnormal male urethral crest morphology any structural anomaly of the narrow longitudinal fold of mucosa on the posterior wall of the male urethra, extending from the uvula of the bladder through the prostatic urethra; when distended, it may serve to prevent the passage of the semen backward into the bladder; on either side of the male urethral crest is a slightly depressed fossa, the prostatic sinus, the floor of which is perforated by the orifices of the prostatic ducts from the lateral lobes of the prostate; the ducts of the middle lobe open behind the crest; at the forepart of the crest, below its summit, is a median elevation, the colliculus seminalis, upon or within the margins of which are the orifices of the prostatic utricle and the slit-like openings of the ejaculatory ducts MP:0011842 abnormal female urethral crest morphology any structural anomaly of the conspicuous longitudinal fold of mucosa on the posterior wall of the female urethra MP:0011843 abnormal kidney collecting duct epithelium morphology any structural anomaly of the simple cuboidal epithelium lining the lumen of kidney collecting ducts; the mature and differentiated CD epithelium comprises two unique cells types with principal cells responsible for vasopressin-regulated water reabsorption, and intercalated cells regulating acid-base homeostasis; injury to the epithelium is believed to cause epithelial cells to acquire mesenchymal characteristics via epithelial-mesenchymal transition (EMT), a process through which tubular epithelial cells may transform into interstitial fibroblasts and promote renal fibrosis MP:0011844 kidney collecting duct atrophy acquired diminution of the size of the kidney collecting ducts associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0011845 abnormal kidney collecting duct number anomaly in the number of any of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance MP:0011846 decreased kidney collecting duct number smaller than expected number of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance MP:0011847 increased kidney collecting duct number larger than expected number of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance MP:0011848 abnormal vagina vestibule morphology any structural anomaly of the space posterior to the glans clitoridis, between the labia minora; located within the vestibule are the openings of the vagina, the urethra, and the ducts of the lesser vestibular glands, the greater vestibular (Bartholin's) glands, and the paraurethral (Skene's) glands, which release mucus into the vestibule to maintain a moist, lubricated vestibular environment; the vestibule is also moistened by secretions from the cervical mucus glands located in the inferior region of the uterus MP:0011849 abnormal clitoral bone morphology any structural anomaly of the ossified region of endochondral and membranous bone located in the clitoris of most mammals except humans;it is homologous to the penile bone (aka as baculum, penis bone or os penis) in male mammals MP:0011850 absent clitoral bone absence of the unique bone located in the clitoris of most mammals except humans MP:0011851 abnormal embryonic cloaca development failure or anomaly in the formation of a pouch-like dilation of the caudal end of the hindgut by the process of folding of the caudal region of the embryonic disk; during the tail-fold process, the posteriorly placed allantois, or allantoic diverticulum of the yolk sac, becomes an anterior extension of the cloaca; soon after the cloaca forms, it receives posterolaterally the caudal ends of the paired mesonephric ducts and hence becomes a junctional cistern for the allantois, the hindgut, and the ducts; a cloacal membrane, composed of ectoderm and endoderm, is the caudal limit of the primitive gut and temporarily separates the cloacal cavity from the extraembryonic confines of the amniotic cavity; subsequent growth of the urorectal septum eventually subdivides the once single cloaca chamber into the primitive urogenital sinus (ventrally) and the anorectal canal of the hindgut (dorsally) MP:0011852 patent urachus failure of complete urachal lumen closure resulting in an open channel between the urinary bladder and the umbilicus and leakage of urine through the umbilicus MP:0011853 abnormal urorectal septum morphology any structural anomaly of the ridge of mesoderm covered with endoderm that in the early developing embryo partitions the endodermal cloaca into the primary urogenital sinus (ventrally) and the anorectal canal of the hindgut (dorsally); the urorectal septum eventually fuses with the cloacal membrane, dividing it into a dorsal anal membrane and a larger ventral urogenital membrane - this area of fusion is represented in the adult by the perineal body MP:0011854 cerebral edema excess accumulation of water in the intra- and/or extracellular spaces of the brain MP:0011855 abnormal glomerular filtration barrier morphology any structural anomaly of the highly specialized blood filtration interface that displays a high conductance to small and midsized solutes in plasma but retains relative impermeability to macromolecules; its integrity is maintained by physicochemical and signalling interplay among its three core constituents -- the fenestrated endothelium of the glomerular capillaries, the glomerular basement membrane, and the filtration slits of the visceral epithelial cell (podocyte) MP:0011856 abnormal glomerular filtration barrier function anomaly in the function of the highly specialized blood filtration interface that displays a high conductance to small and midsized solutes in plasma but retains relative impermeability to macromolecules; its integrity is maintained by physicochemical and signalling interplay among its three core constituents -- the fenestrated endothelium of the glomerular capillaries, the glomerular basement membrane, and the filtration slits of the visceral epithelial cell (podocyte); the barrier permits the passage of water, ions, and small molecules from the bloodstream into the Bowman's space and prevents the loss of large and/or negatively charged proteins (e.g. serum albumin) from blood into urine MP:0011857 short kidney papilla reduced average length of the apex of the renal pyramid that projects into a calyx MP:0011858 elongated kidney papilla increased average length of the apex of the renal pyramid that projects into a calyx MP:0011859 decreased renal glomerulus basement membrane thickness reduced width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule MP:0011860 abnormal peritubular capillary endothelium morphology any structural anomaly of the thin sheet of endothelial cells along the basal lamina of renal tubular cells characterized by their attenuated shape and numerous regularly-spaced transcellular pores (aka fenestrae or fenestrations); the fenestrae of peritubular capillaries differ from the fenestrae of glomerular capillaries in that they are much smaller and possess a small overlying diaphragm MP:0011861 increased cranium height increase in the rostral-caudal distance between the cranial base and the upper domelike portion of the skull MP:0011862 decreased cranium length having a decreased dorsal-to-ventral distance of the cranium MP:0011863 abnormal podocyte physiology any functional anomaly of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane MP:0011864 abnormal podocyte adhesion any anomaly in the adhesive properties of glomerular podocytes, resulting in abnormal cell to cell and cell to extracellular matrix (ECM) interactions; podocytes adhere tightly to ECM components of the glomerular basement membrane via an integrin-laminin-actin axis to maintain a functional filtration barrier in the presence of mechanical stress MP:0011865 abnormal podocyte motility any anomaly in the ability of podocyte foot processes (FPs) to retract or elongate and hence move quickly along the glomerular basement membrane (GBM); motility refers to the dynamic reorganization of the interdigitating FP structure in vivo , and to the cell migration of cultured podocytes in vitro that is seen as surrogate for the former; alterations in podocyte motility are considered to underlie foot process effacement, with changes in the leading edge of the cell and its interactions with the GBM; a rather stationary podocyte phenotype is believed to reflect a stable FP structure with intact slit diaphragms, whereas hypermotility is believed to promote the development of FP effacement and proteinuria MP:0011866 increased podocyte motility greater ability of podocyte foot processes (FPs) to retract or elongate and hence move quickly along the glomerular basement membrane (GBM) MP:0011867 decreased podocyte motility reduced ability of podocyte foot processes (FPs) to retract or elongate and hence move quickly along the glomerular basement membrane (GBM) MP:0011868 podocyte microvillus transformation aberrant formation of numerous slender cellular projections resembling microvilli or vesicle-like structures along the apical surface of podocytes, suggestive of podocyte injury MP:0011869 detached podocyte detachment or loss of adhesion of podocyte foot processes from the glomerular basement membrane (GBM); as a consequence, denuded GBM areas at peripheral capillary loops can become foci for adhesions to parietal epithelial cells (glomerular synechiae) and crescent formation, and podocytes and podocyte-specific proteins may be found in the urine MP:0011870 abnormal podocyte polarity any anomaly in the establishment or maintenance of podocyte cell polarity; podocytes exhibit polarity along at least two axes: (i) an apical-basal axis perpendicular to the glomerular basement membrane in which the apical and basolateral membrane domains of the podocyte are separated by a boundary created by the intercellular junctions of the foot process and (ii) a second plane parallel to the basement membrane that determines the unique orientation of interdigitating foot processes MP:0011871 podocyte hypertrophy increase in the size of the modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle MP:0011872 absent xiphoid process absence of the caudal tip of the sternum MP:0011873 enlarged uterine horn increased size of the uterine horn MP:0011874 enlarged urinary bladder increased size of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys MP:0011875 absent stomach absence of the sac-like structure of the digestive canal between the esophagus and the small intestine MP:0011876 absent penis absence of organ of copulation and urination in the male MP:0011877 absent liver absence of the bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage MP:0011878 jejunum atresia congenital blockage or absence of the lumen of the jejunum MP:0011879 ileum atresia congenital blockage or absence of the lumen of the ileum MP:0011880 absent duodenum missing portion of the small intestine that extends from the pyloris to the junction with the jejunum MP:0011881 distended duodenum an expansion in the volume of the portion of the small intestine that extends from the pyloris to the junction with the jejunum, as by stretching or distention MP:0011882 enlarged duodenum increased size of the portion of the small intestine that extends from the pyloris to the junction with the jejunum MP:0011883 absent diaphragm absence of the thin musculomebranous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control MP:0011884 absent colon absence of the portion of the large intestine between the cecum and the rectum MP:0011885 abnormal circulating lipase level any anomaly in the concentration of lipase in the blood, in particular the serum; the measurement of serum lipase activity is widely used for the diagnosis of acute pancreatitis MP:0011886 increased circulating lipase level elevated blood level of lipase in the blood, in particular the serum MP:0011887 decreased circulating lipase level reduced blood level of lipase in the blood, in particular the serum MP:0011888 abnormal circulating total protein level total circulating protein concentration is outside the normal range MP:0011889 abnormal circulating ferritin level deviation from the normal concentration of ferritin, a ubiquitous intracellular protein that stores iron and releases it in a controlled fashion; some ferritin is also found in the blood and is measured in tests for overall iron levels, anemia and chronic diseases MP:0011890 increased circulating ferritin level elevated concentration in the blood of ferritin, a ubiquitous intracellular protein that stores iron and releases it in a controlled fashion; some ferritin is also found in the blood and is measured in tests for overall iron levels, anemia and chronic diseases MP:0011891 decreased circulating ferritin level reduced concentration in the blood of ferritin, a ubiquitous intracellular protein that stores iron and releases it in a controlled fashion; some ferritin is also found in the blood and is measured in tests for overall iron levels, anemia and chronic diseases MP:0011892 abnormal circulating transferrin level deviation from the normal concentration in the blood of a plasma protein that reversibly binds and transports iron and other metal ions through the blood to the liver, spleen and bone marrow MP:0011893 increased circulating transferrin level elevated concentration in the blood of a plasma protein that reversibly binds and transports iron and other metal ions through the blood to the liver, spleen and bone marrow MP:0011894 decreased circulating transferrin level reduced concentration in the blood of a plasma protein that reversibly binds and transports iron and other metal ions through the blood to the liver, spleen and bone marrow MP:0011895 abnormal circulating unsaturated transferrin level any anomaly in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test MP:0011896 increased circulating unsaturated transferrin level increase in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test MP:0011897 decreased circulating unsaturated transferrin level reduction in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test MP:0011898 abnormal platelet cell number anomaly in the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation MP:0011899 podocyte vacuoles abnormal presence of fluid-filled vesicles in the cytoplasm of the modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle, often indicative of podocyte injury MP:0011900 podocyturia presence of kidney podocytes, their cell fragments, or podocyte-specific proteins in the urine; urinary loss of viable podocytes may serve as a diagnostic tool for pre-eclampsia and as a marker of active renal disease MP:0011901 abnormal hematopoietic stem cell proliferation anomaly in the ability of a hematopoietic stem cell population to undergo expansion by cell division MP:0011902 increased hematopoietic stem cell proliferation increase in the expansion rate of a hematopoietic stem cell population by cell division MP:0011903 decreased hematopoietic stem cell proliferation reduction in the expansion rate of a hematopoietic stem cell population by cell division MP:0011904 abnormal Schwann cell physiology any functional anomaly of the cells which form the insulating myelin sheaths of peripheral axons MP:0011905 abnormal Schwann cell proliferation any anomaly in the ability of a Schwann cell to undergo rapid expansion by cell division MP:0011906 increased Schwann cell proliferation increase in the expansion rate of a Schwann cell population by cell division MP:0011907 decreased Schwann cell proliferation reduction in the expansion rate of a Schwann cell population by cell division MP:0011908 abnormal pancreatic endocrine progenitor cell proliferation anomaly in the ability of a pancreatic endocrine progenitor cell population to undergo expansion by cell division MP:0011909 increased pancreatic endocrine progenitor cell proliferation increased ability of a pancreatic endocrine progenitor cell population to undergo expansion by cell division MP:0011910 decreased pancreatic endocrine progenitor cell proliferation reduced ability of a pancreatic endocrine progenitor cell population to undergo expansion by cell division MP:0011911 abnormal pancreatic endocrine progenitor cell physiology any functional anomaly of a multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells MP:0011912 abnormal circulating fibronectin level aberrant concentration in the blood of the glycoprotein that binds to integrins or components of the extracellular matrix; plays a major role in cell adhesion, growth, migration, differentiation, wound healing, and embryonic development MP:0011913 abnormal reticulocyte cell number altered number of immature (nucleated) erythrocytes MP:0011914 decreased heart left atrium weight less than average weight of the left atrium MP:0011915 increased heart left atrium weight more than average weight of the left atrium MP:0011916 decreased heart right atrium weight less than average weight of the right atrium MP:0011917 increased heart right atrium weight more than average weight of the right atrium MP:0011918 abnormal PQ interval anomaly in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave MP:0011919 abnormal R wave any anomaly in the R wave which represents ventricular depolarization and corresponds to electrical impulses rather than mechanical ventricular contractions; irregular or multiple R waves may indicate arrhythmia and the shape of the R waves may indicate ventricular problems MP:0011920 abnormal S wave any anomaly in the S wave which represents the end of ventricular depolarization and corresponds to an isoelectric state rather than mechanical ventricular relaxation MP:0011921 abnormal adrenal gland zona intermedia morphology any structural anomaly of the region between the zona glomerulosa and zona fasciculata that is relatively thin and contains mostly undifferentiated cells MP:0011922 abnormal circulating osteocalcin level aberrant concentration in the blood of this noncollagenous protein hormone found in bone and dentin, which is secreted by osteoblasts MP:0011923 abnormal bladder urine volume any anomaly in the amount of space occupied by urine in the bladder MP:0011924 abnormal liver zinc level anomaly in the amount of zinc present in the liver tissue MP:0011925 abnormal heart echocardiography feature any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features MP:0011926 abnormal heart valve physiology any functional anomaly of the membranous folds of the heart that prevent reflux of fluid MP:0011927 abnormal cardiac valve flow any anomaly of the regulated one-way movement of blood through the heart valves MP:0011928 abnormal mitral valve flow abnormality of valve function causing passive filling of the left ventricle or active filling of the left atrium MP:0011929 abnormal aortic valve flow abnormality impeding normal blood flow or allowing blood to backflow through this valve into the left ventricle MP:0011930 abnormal tricuspid valve flow abnormality of valve function causing passive filling of the right ventricle or active filling of the right atrium MP:0011931 abnormal pulmonary valve flow abnormality impeding normal blood flow or allowing blood to backflow through this valve into the right ventricle MP:0011932 abnormal endocrine pancreas development anomaly in the formation of the smaller portion of the pancreas that secretes a number of hormones into the blood stream that are produced by the cells in the islets of Langerhans MP:0011933 abnormal exocrine pancreas development anomaly in the formation of the acinar gland portion of the pancreas that secretes digestive enzymes MP:0011934 abnormal branching involved in pancreas development any anomaly in the process in which the branches of the developing pancreas are generated and organized MP:0011935 abnormal pancreatic bud formation any anomaly in the process in which the foregut region specified to become the pancreas forms a bud MP:0011936 abnormal PP interval any anomaly in the distance between consecutive P waves in the electrocardiogram, representing the length of the cardiac cycle; this value is often used in calculating heart rate and heart rate variability MP:0011937 shortened PP interval decrease in the distance between consecutive P waves in the electrocardiogram, representing the length of the cardiac cycle MP:0011938 prolonged PP interval increase in the distance between consecutive P waves in the electrocardiogram, representing the length of the cardiac cycle MP:0011939 increased food intake increase in the total number of calories/food amount taken in over time when compared to the normal state MP:0011940 decreased food intake reduction in the total number of calories or food amount taken in over time when compared to the normal state MP:0011941 increased fluid intake increase in the total amount of fluid taken in over time when compared to the normal state MP:0011942 decreased fluid intake reduction in the total amount of fluid taken in over time when compared to the normal state MP:0011943 abnormal circadian feeding behavior anomaly in the fluctuation pattern in feeding behavior (amount and instances) that occurs over an approximately 24 hour light/dark cycle MP:0011944 abnormal eating frequency anomaly in the number of discrete instances of initiation of eating over time, regardless of amount eaten MP:0011945 increased eating frequency increase in the number of discrete instances of initiation of eating over time, regardless of amount eaten MP:0011946 decreased eating frequency reduction in the number of discrete instances of initiation of eating over time, regardless of amount eaten MP:0011947 abnormal fluid intake significant anomaly in the total amount of fluid taken in over time when compared to the normal state MP:0011948 abnormal drinking frequency anomaly in the number of discrete instances of initiation of drinking over time, regardless of amount ingested MP:0011949 increased drinking frequency increase in the number of discrete instances of initiation of drinking over time, regardless of amount ingested MP:0011950 decreased drinking frequency reduction in the number of discrete instances of initiation of drinking over time, regardless of amount ingested MP:0011951 increased cardiac stroke volume increase in the volume of blood pushed into the aorta with each beat of the heart MP:0011952 decreased cardiac stroke volume reduction in the volume of blood pushed into the aorta with each beat of the heart MP:0011953 prolonged PQ interval increase in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave MP:0011954 shortened PQ interval decrease in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave MP:0011955 phenotypic reversion by gene product interaction two or more mutant gene products, when existing together in one organism, result in a wild-type phenotype when each independent mutation shows a phenotype MP:0011956 abnormal compensatory feeding amount anomaly in the amount of food consumed after a period of fasting MP:0011957 decreased compensatory feeding amount decreased amount of food consumed after a period of fasting MP:0011958 increased compensatory feeding amount increased amount of food consumed after a period of fasting MP:0011959 abnormal eye posterior chamber depth anomaly in the distance between the iris and the lens at the center plane (maximum distance) of the posterior chamber, compared to controls MP:0011960 abnormal eye anterior chamber depth anomaly in the distance between the iris and the cornea at the center plane (maximum distance) of the eye anterior chamber compared to controls MP:0011961 abnormal cornea thickness increased or decreased width of the cornea in the center plane MP:0011962 increased cornea thickness increased width of the cornea in the center plane MP:0011963 abnormal total retina thickness increased or decreased width of the retina through the center plane MP:0011964 increased total retina thickness increased width of the retina through the center plane MP:0011965 decreased total retina thickness decreased width of the retina through the center plane MP:0011966 abnormal auditory brainstem response waveform shape any anomaly in the characteristic pattern of electrical activity recording of a series of vertex positive waves generated by neurons in the ascending auditory system, that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts MP:0011967 increased or absent threshold for auditory brainstem response increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click MP:0011968 decreased threshold for auditory brainstem response reduction in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system MP:0011969 abnormal circulating triglyceride level abnormal concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver MP:0011970 abnormal circulating lactate dehydrogenase level abnormal blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types MP:0011971 increased circulating lactate dehydrogenase level elevated blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types MP:0011972 decreased circulating lactate dehydrogenase level reduced blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types MP:0011973 abnormal circulating glycerol level abnormal blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source MP:0011974 intestinal stenosis abnormal narrowing or constriction of the segment of the alimentary canal extending from the pyloric sphincter of the stomach to the anus MP:0011975 neuronal cytoplasmic inclusions presence of aggregates of protein within the cytoplasm of neurons; hallmark of neurodegenerative disorders MP:0011976 sweet preference subjects demonstrate predilection for sweet tasting substances over other offered substance MP:0011977 abnormal sodium ion homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of sodium ions within the body or between a cell and its external environment MP:0011978 abnormal potassium ion homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of potassium ions within the body or between a cell and its external environment MP:0011979 abnormal magnesium ion homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of magnesium ions within the body or between a cell and its external environment MP:0011980 absent Langerhans cell precursors absence of the yolk sac-derived primitive myeloid progenitors that populate the skin before the onset of fetal liver hematopoiesis MP:0011981 abnormal microglial cell differentiation atypical production of or inability to produce the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system MP:0011982 decreased microglial cell number reduced number of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system MP:0011983 abnormal Ito cell differentiation atypical production of or inability to produce the fat-storing cells that line the hepatic sinusoids MP:0011984 decreased enteroendocrine cell number reduction in the number of the various hormone- or neurotransmitter-secreting epithelial cells present throughout the mucosa of the digestive tract MP:0011985 abnormal macrophage proliferation anomaly in the ability of macrophages to undergo expansion by cell division; macrophages are large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells MP:0011986 decreased macrophage proliferation reduced ability of macrophages to undergo expansion by cell division; macrophages are large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells MP:0011987 abnormal GABAergic neuron physiology any functional anomaly of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter MP:0011988 increased mating frequency increased number of attempts of sexual behavioral contact between an initiating organism and a receptive partner MP:0011989 abnormal porphyrin level aberrant concentration of porphyrins or protoporphyrins MP:0011990 decreased porphyrin level reduced concentration of porphyrins or protoporphyrins MP:0011991 aortic cartilaginous metaplasia transformation of cells comprising the aorta epithelium to arterial chondrocytes that express type II collagen, resulting in heterotopic formation of cartilage and may lead to calcification in the aorta MP:0011992 increased erythrocyte catalase activity greater capacity to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O, in erythorcytes MP:0011993 increased foot pad temperature increased degree of heat natural to the foot pad-environment interface of a living being MP:0011994 increased nerve conduction velocity increase in the rate at which an electrical impulse travels through a nerve MP:0011995 decreased leukemia incidence less than the expected number of neoplasms derived from blood or bone marrow in a specific population in a given time period MP:0011996 abnormal retina inner nuclear layer thickness anomaly in the thickness of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells MP:0011997 abnormal retina outer nuclear layer thickness anomaly in the thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones MP:0011998 decreased embryonic cilium length reduced length of the cilia of the mouse embryo found on the cells of the embryonic node MP:0011999 abnormal tail length any anomaly in the length of tail relative to average of a given reference population MP:0012000 abnormal limb position anomaly in the location or orientation of the limbs on the body relative to other body parts or axes MP:0012001 abnormal touch escape response anomaly in the ability of an animal to respond to the approach of a human hand by fleeing from it MP:0012002 impaired touch escape response impaired ability of an animal to respond to the approach of a human hand by fleeing from it, including fleeing only after a touch or stroke, or not responding to touch by fleeing MP:0012003 abnormal septum of telencephalon morphology any structural anomaly of the gray matter structures of the telencephalon and limbic system in the brain; included is the cortical septal area, subcortical septal nuclei, and the septum pellucidum; however, many authorities consider the septal region to be made up of the septal area and the septal nuclei, but excluding the septum pellucidum MP:0012004 abnormal septum pellucidum morphology any structural anomaly of the thin, triangular, vertical membrane separating the anterior horns of the left and right lateral ventricles of the septum, which has strong projections to hypothalamic and midbrain regions and receives projections from the hippocampus and amygdala MP:0012005 abnormal septum pellucidum size anomaly in the size of the thin, triangular, vertical membrane separating the anterior horns of the left and righ of the septum, which has strong projections to hypothalamic and midbrain regions and receives projections from the hippocampus and amygdala MP:0012006 abnormal hippocampus physiology any functional anomaly related to processes in the deep lying structure of the cerebrum involved with memory storage and spatial navigation MP:0012007 abnormal chloride level any change in the amount of chloride, the major extracellular anion in mammals; it plays roles in tissue fluid homeostasis and also helps maintain proper blood volume, blood pressure, and body fluid pH MP:0012008 delayed parturition the process of labor and delivery in female animals occurs later in gestation than expected or lack of progress in a labor already initiated MP:0012009 early parturition the process of labor and delivery in female animals occurs earlier in gestation than expected MP:0012010 parturition failure the process of labor and delivery in female animals does not initiate or complete MP:0012011 febrile seizures a convulsion associated with a significant rise in body temperature (fever) MP:0012012 abnormal innate olfactory avoidance response any anomaly in the naive behavioral response of an individual to an aversive olfactory stimulus, in which the tendency to act defensively is stronger than the tendency to attack MP:0012013 abnormal innate avoidance response any anomaly in the naive behavioral response of an individual to an aversive stimulus, in which the tendency to act defensively is stronger than the tendency to attack MP:0012014 abnormal olfactory neuron innervation pattern any changes in the placement, morphology or number of axons from olfactory neurons to an effector tissue or to olfactory glomeruli or olfactory bulb MP:0012015 abnormal eumelanosome eumelanin content anomaly in the amount or distribution of black (or brown) pigment in the eumelanosomes of melanocytes MP:0012016 abnormal hair follicle eumelanosome eumelanin content anomaly in the amount or distribution of black (or brown) pigment in the eumelanosomes of the hair follicle melanocytes MP:0012017 grizzled coat color amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is decreased compared to wild-type agouti producing hair that is partly gray or streaked with gray MP:0012018 abnormal oviduct physiology any functional anomaly of the tube through which the ova pass from the ovary to the uterus MP:0012019 abnormal oviduct epithelium motile cilium physiology any functional anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the oviduct MP:0012020 abnormal olfactory epithelium physiology any functional anomaly in the epithelial cells that line the interior of the nose MP:0012021 abnormal melanocyte number deviation from the average number of the cells that produce pigment MP:0012022 increased melanocyte number greater number of the cells that produce pigment MP:0012023 decreased melanocyte number reduced number of the cells that produce pigment MP:0012024 abnormal nephron morphogenesis any anomaly in the process in which the nephron is generated and organized; the nephron is the filtering unit of the kidney that includes the renal corpuscle, proximal and distal convoluted tubules, and loop of Henle MP:0012025 abnormal comma shaped body morphology any structural anomaly of precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron MP:0012026 abnormal S-shaped body morphology any structural anomaly of the successor of the comma-shaped body that contributes to the morphogenesis of the nephron MP:0012027 abnormal embryonic cilium location or orientation embryonic cilia are displaced from the normal position and/or do not orient in a typical pattern MP:0012028 abnormal visceral endoderm physiology any functional anomaly of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut MP:0012029 abnormal electroretinogram waveform feature any anomaly in the pattern of the graphic record of the integrated ensemble response from many vision related neuronal and glial populations as a consequence of the serial processing within the retina, represented as changes in voltage over time after visual photonic stimulation MP:0012030 abnormal a-wave amplitude anomaly in the size (height or maximum displacement) of the a-wave as measured in the electroretinogram MP:0012031 abnormal b-wave amplitude anomaly in the size (height or maximum displacement) of the b-wave as measured in the electroretinogram MP:0012032 abnormal ERG latency anomaly in the time from onset of stimulus to beginning of a waveform feature MP:0012033 abnormal ERG implicit time anomaly in the time from the onset of light stimulus to the peak of a waveform feature MP:0012034 abnormal a-wave shape any anomaly in the graphical representation of the a-wave in the electroretinogram; the a-wave represents the general physiological health of the photoreceptors in the outer retina MP:0012035 abnormal b-wave shape any anomaly in the graphical representation of the b-wave in the electroretinogram; the b-wave represents the health of the inner layers of the retina, including the ON bipolar cells and the Muller cells MP:0012036 abnormal a-wave latency anomaly in the time from onset of stimulus to beginning of the a-wave MP:0012037 abnormal b-wave latency anomaly in the time from onset of stimulus to beginning of the b-wave MP:0012038 abnormal a-wave implicit time anomaly in the time from the onset of light stimulus to the peak of the a-wave MP:0012039 abnormal b-wave implicit time anomaly in the time from the onset of light stimulus to the peak of the b-wave MP:0012040 abnormal c-wave shape any anomaly in the graphical representation of the c-wave in the electroretinogram; the ERG c-wave can be used to assess the functional integrity of the photoreceptors, the pigment epithelial cells and the interactions between them. MP:0012041 increased susceptibility to pulmonary hyaline membrane formation increased likelihood of the presence of an eosinophilic hyaline (glass-like) material composed of fibrin, proteinaceous exudate and cellular debris, and lining or filling the alveoli, alveolar ducts and bronchioles MP:0012042 low alcohol preference decreased predilection to ingest alcohol over other substances MP:0012043 increased myoepithelioma incidence greater than the expected occurrence of a benign tumor of myoepithelial cells, occurring in a specific population in a given time period MP:0012044 abnormal phospholipase A2 level any anomaly in the amount of any of the enzymes that hydrolize the acyl group attached to the two-position of phosphoglycerides MP:0012045 increased susceptibility to hypertension more likely than normal to develop sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states MP:0012046 decreased susceptibility to hypertension less likely than normal to develop sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states MP:0012047 abnormal cholinesterase level anomaly in the amount of any of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid MP:0012048 abnormal response to retina ischemic injury altered response to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of the retina MP:0012049 increased susceptilbility to retina ischemic injury more severe response, such as increased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of the retina compared to controls MP:0012050 decreased susceptilbility to retina ischemic injury less severe response, such as decreased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of the retina compared to controls MP:0012051 spasticity a motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes and increased resistance to stretch MP:0012052 hypertonicity abnormally increased muscle tone or strength that impairs proper movement MP:0012053 limb hypertonicity limbs exhibit abnormally increased muscle tone; can be due to muscle genetic defects or some CNS disorders and may be evident in arm or leg deformities MP:0012054 abnormal phrenic nerve innervation pattern any changes in the placement, morphology or number of phrenic nerve fibers providing motor supply to the diaphragm as well as sensory fibers to the central tendon, or in the thorax, phrenic nerve sensory fibers to the mediastinal pleura and pericardium MP:0012055 abnormal phrenic nerve innervation pattern to diaphragm any changes in the placement, morphology or number of the portion of phrenic nerve fibers providing motor supply to the diaphragm MP:0012056 abnormal polar trophectoderm morphology any structural anomaly of the trophectoderm portion that surrounds the inner cell mass (ICM); unlike mural trophectoderm cells which stop proliferating and become large polyploid cells (the primary trophoblastic giant cells) by endoreduplication, polar trophectoderm cells remain diploid, continue to proliferate and give rise to both the ectoplacental cone and the extraembryonic ectoderm MP:0012057 abnormal mural trophectoderm morphology any structural anomaly of the trophectoderm portion distal to the ICM that overlays the blastocyst cavity and gives rise to polyploid trophoblast giant cells MP:0012058 abnormal morula morphology any structural anomaly of the globular solid mass of blastomeres formed by cleavage of a zygote that typically precedes the blastula, typically after the zygote has divided into 32 cells MP:0012059 thick diaphragm muscle increased thickness of the diaphragm muscle MP:0012060 diaphragm muscle hyperplasia increase in the number of normal cells in normal arrangement in the diaphragm muscle, typically resulting in increased size MP:0012061 abnormal diaphragm central tendon morphology any structural anomaly of the three-lobed cloverleaf-shaped aponeurosis situated at the center of the diaphragm; the central tendon is fused with the fibrous pericardium that provides attachment for the muscle fibers MP:0012062 small tail bud decreased size or area of the primordial region of the embryo that arises to form the tail of the adult MP:0012063 absent tail bud missing the primordial region of the embryo that arises to form the tail of the adult MP:0012064 abnormal astrocyte number anomaly in the number of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord MP:0012065 increased astrocyte number increase in the number of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord MP:0012066 decreased astrocyte number reduction in the number of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord MP:0012067 abnormal olfactory gland morphology any structural anomaly of the Bowman's glands (aka glands of Bowman, olfactory glands), situated in the olfactory mucosa, beneath the olfactory epithelium, in the lamina propria, a connective tissue also containing fibroblasts, blood vessels, and bundles of fine axons from the olfactory neurons; Bowman's glands consists of an acinus in the lamina propria and a secretory duct going out through the olfactory epithelium MP:0012068 abnormal globose cell of olfactory epithelium morphology any structural anomaly of the rounded or elliptical epithelial cells, with pale-staining open face nucleus and pale cytoplasm rich in free ribosomes and clusters of centrioles, that form a distinct basal zone spaced slightly from the basal surface of the olfactory epithelium MP:0012069 abnormal horizontal basal cell of olfactory epithelium morphology any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the basal lamina of olfactory epithelium MP:0012070 abnormal susceptibility to osteoporosis a change in the likelihood that an organism will develop a reduction in bone mass or atrophy of skeletal tissue, usually accompanied by gross changes to bone matrix, leading to bone fragility MP:0012071 increased susceptibility to osteoporosis greater likelihood that an organism will develop a reduction in bone mass or atrophy of skeletal tissue, usually accompanied by gross changes to bone matrix, leading to bone fragility MP:0012072 decreased susceptibility to osteoporosis reduced likelihood that an organism will develop a reduction in bone mass or atrophy of skeletal tissue, usually accompanied by gross changes to bone matrix, leading to bone fragility MP:0012073 premature mammary gland growth during pregnancy faster progression of the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation in preparation for lactation MP:0012074 failure of mammary gland growth during pregnancy arrest, or failure to initiate the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation in preparation for lactation MP:0012075 impaired mammary gland growth during pregnancy defect in the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation in preparation for lactation MP:0012076 abnormal agouti pigmentation amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is variably increased or decreased compared with a wild-type agouti pattern resulting in a range of coat color from yellow to almost black MP:0012077 webbed neck the skin on the neck appears as loose folds that develop a web-like appearance from the ears to the shoulder during growth and maturation MP:0012078 abnormal tail ring morphology any structural anomaly of the segmentally patterned skin ridges appearing on the tail of rodents MP:0012079 abnormal spinal reflex any anomaly in the reflexive action mediated by cells of the spinal cord, or the involuntary movement reaction caused by the application of a stimulus to an organism; these include signals originating from heat from burning, sharp sensations, and other painful feelings MP:0012080 chylous ascites the extravasation of milky triglyceride-rich chyle into the peritoneal cavity; often a secondary symptom of neoplasms MP:0012081 absent heart tube absence of the primitive epithelial cardiac tube before the division into the chambers of the mature heart MP:0012082 delayed heart development late onset of the induction and/or differentiation of the heart MP:0012083 absent foregut absence of the anterior portion of the primitive digestive tube of the embryo that lies cephalic to the junction of the yolk stalk, consists of endodermal tissue, and gives rise to the pharynx, lower respiratory system, esophagus, stomach, duodenum proximal to the biliary tract, liver, pancreas, biliary tract, and gall bladder MP:0012084 truncated foregut shortened foregut that terminates abruptly as if having an end or point cut off MP:0012085 midface hypoplasia decrease in the number of normal cells in normal arrangement in the midface, typically resulting in decreased size and leading to a concave-looking face MP:0012086 absent hindgut absence of the caudal portion of the primitive digestive tube of the embryo MP:0012087 absent midbrain absence of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes MP:0012088 abnormal midbrain size deviation from the average range of midbrain size compared to normal MP:0012089 decreased midbrain size size reduction or truncation of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes MP:0012090 midbrain hypoplasia decrease in the number of normal cells in normal arrangement in the midbrain, typically resulting in decreased size MP:0012091 increased midbrain size greater than average size of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes MP:0012092 diencephalon hypoplasia decrease in the number of normal cells in normal arrangement in the diencephalon, typically resulting in decreased size MP:0012093 absent nodal flow absence of the leftward movement of extra-embryonic fluid at the ventral node; nodal flow is autonomously generated by the rotation of cilia that are tilted toward the posterior on cells of the ventral node and is the central process in symmetry breaking on the left-right axis; when nodal cilia are immotile or absent, nodal flow does not occur MP:0012094 abnormal Reichert's membrane thickness anomaly in the width of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm MP:0012095 increased Reichert's membrane thickness increased width of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm MP:0012096 decreased Reichert's membrane thickness reduced width of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm MP:0012097 abnormal spongiotrophoblast size anomaly in the size of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors MP:0012098 increased spongiotrophoblast size greater size of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors MP:0012099 decreased spongiotrophoblast size reduction of the size of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors MP:0012100 absent spongiotrophoblast absence of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors MP:0012101 acoria absence of the pupil of the eye MP:0012102 absent trophectoderm absence of the outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition MP:0012103 abnormal bilaminar embryonic disk morphology any structural anomaly of the flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc MP:0012104 small amniotic cavity reduced size of the closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds MP:0012105 delayed gastrulation late onset of the development and invagination of the embryonic germ layers MP:0012106 impaired exercise endurance impaired performance during controlled physical activity MP:0012107 enhanced exercise endurance improved performance during controlled physical activity MP:0012108 increased trophoblast glycogen cell number greater number of the glycogen-accumulating trophoblast cells that arise in the junctional zone of the placenta MP:0012109 decreased trophoblast glycogen cell number reduced number of the glycogen-accumulating trophoblast cells that arise in the junctional zone of the placenta MP:0012110 increased hair follicle number greater number of the epidermal invaginations from which the hair shaft develops MP:0012111 failure of morula compaction inability to initiate or maintain the first cell differentiation event in mammalian development, occurring at the late eight-cell stage in the mouse, whereby cells on the outer part of the morula become flattened and bound tightly together with the formation of desmosomes and gap junctions, becoming nearly indistinguishable MP:0012112 increased inner cell mass proliferation enhanced expansion rate of the inner cell mass MP:0012113 decreased inner cell mass proliferation reduced expansion rate of the inner cell mass MP:0012114 absent inner cell mass proliferation absence of expansion of the inner cell mass MP:0012115 abnormal trophectoderm cell proliferation any anomaly in the ability of a trophectoderm cell population to undergo expansion by cell division MP:0012116 increased trophectoderm cell proliferation increase in the expansion rate of a trophectoderm cell population by cell division MP:0012117 decreased trophectoderm cell proliferation decrease in the expansion rate of a trophectoderm cell population by cell division MP:0012118 absent trophectoderm cell proliferation failure of a trophectoderm cell population to undergo expansion by cell division MP:0012119 increased trophectoderm apoptosis increase in the number of trophectoderm cells undergoing programmed cell death MP:0012120 trophectoderm cell degeneration a retrogressive impairment of function or destruction of trophectoderm cells MP:0012121 sclerocornea a congenital anomaly of the eye in which partial or complete corneal opacity is present and resembles the sclera, with no clear boundary between these structures MP:0012122 abnormal iris transillumination any anomaly in the radial light dispersion pattern of the iris when a focused light beam is passed through it; particular dispersion pattern anomalies are indicative of abnormalities in iris pigment distribution and for the presence of glaucoma, atrophy and/or infection MP:0012123 abnormal bronchoconstrictive response anomaly in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography MP:0012124 increased bronchoconstrictive response enhanced or greater than expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography MP:0012125 decreased bronchoconstrictive response reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography MP:0012126 abnormal placenta hemotrichorial membrane morphology any structural anomaly of the three trophoblast cell layers found in rodent placentas between fetal blood vessels and maternal blood sinuses MP:0012127 absent placenta hemotrichorial membrane absence of the three trophoblast cell layers found in rodent placentas between fetal blood vessels and maternal blood sinuses MP:0012128 abnormal blastocyst formation atypical formation of a blastocyst from a solid ball of cells known as a morula, including anomalies in the formation of a fluid-filled cavity (blastocoele) and/or initiation of inner cell mass and trophectoderm differentiation MP:0012129 failure of blastocyst formation inability to form a blastocyst from a solid ball of cells known as a morula MP:0012130 abnormal morula formation atypical formation of the spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum MP:0012131 small visceral yolk sac reduced size of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo MP:0012132 abnormal midbrain-hindbrain boundary morphology any structural anomaly of the midbrain-hindbrain domain of the embryonic brain that is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; normally, an organizing center located at the boundary patterns the midbrain and hindbrain primordia of the neural plate MP:0012133 absent midbrain-hindbrain boundary absence of the midbrain-hindbrain domain of the embryonic brain that is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; normally, an organizing center located at the boundary patterns the midbrain and hindbrain primordia of the neural plate MP:0012134 absent umbilical cord absence of or failure to form the connective stalk between the fetus and the placenta MP:0012135 embryonic-extraembryonic boundary constriction an invagination or pinching in the visceral endoderm that is centered at the boundary between embryonic and extra-embryonic regions of the developing embryo, often resulting in physical separation of embryonic and extraembryonic ectoderm MP:0012136 absent forebrain absence of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) MP:0012137 abnormal forebrain size deviation from the average range of forebrain size compared to normal MP:0012138 decreased forebrain size size reduction or truncation of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) MP:0012139 increased forebrain size greater than average size of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) MP:0012140 forebrain hyperplasia increase in the number of normal cells in normal arrangement in the forebrain, typically resulting in increased size MP:0012141 absent hindbrain absence of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived; the metencephalon (anterior part of the embryonic hindbrain), gives rise to the cerebellum and pons while the myelencephalon (posterior portion of the embryonic hindbrain) gives rise to the medulla oblongata MP:0012142 absent amniotic cavity absence of the closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds MP:0012143 decreased a-wave amplitude reduction in the size (height or maximum displacement) of the a-wave as measured in the electroretinogram MP:0012144 decreased b-wave amplitude reduction in the size (height or maximum displacement) of the b-wave as measured in the electroretinogram MP:0012145 increased a-wave amplitude increase in the size (height or maximum displacement) of the a-wave as measured in the electroretinogram MP:0012146 increased b-wave amplitude increase in the size (height or maximum displacement) of the b-wave as measured in the electroretinogram MP:0012147 increased a-wave implicit time increase in the time from the onset of light stimulus to the peak of the a-wave MP:0012148 decreased a-wave implicit time decrease in the time from the onset of light stimulus to the peak of the a-wave MP:0012149 decreased b-wave implicit time decrease in the time from the onset of light stimulus to the peak of the b-wave MP:0012150 increased b-wave implicit time increase in the time from the onset of light stimulus to the peak of the b-wave MP:0012151 increased a-wave latency increase in the time from onset of stimulus to beginning of the a-wave MP:0012152 decreased a-wave latency decrease in the time from onset of stimulus to beginning of the a-wave MP:0012153 increased b-wave latency increase in the time from onset of stimulus to beginning of the b-wave MP:0012154 decreased b-wave latency decrease in the time from onset of stimulus to beginning of the b-wave MP:0012155 abnormal optic pit morphology any structural anomaly of either of the two pits that appear bilaterally in the region destined to become the forebrain as the cranial neural folds fuse; these optic pits or sulci continue to deepen laterally and bulge from the two sides of the forebrain to become the optic vesicles MP:0012156 rostral-caudal axis duplication partial or complete duplication of rostral-caudal axis structures MP:0012157 rostral body truncation rostral part of body truncated; typically with the caudal portion of the body relatively normal MP:0012158 absent visceral endoderm absence of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut MP:0012159 absent anterior visceral endoderm absence of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue MP:0012160 expanded anterior visceral endoderm the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue occupies a greater area in the extraembryonic region MP:0012161 absent distal visceral endoderm absence of the precursors of the anterior visceral endoderm that arises at the distal tip of the embryo MP:0012162 absent parietal endoderm absence of the primitive endoderm-derived tissue that lines the luminal surface of the mural trophectoderm MP:0012163 abnormal dental mesenchyme morphology any structural anomaly of the mesenchyme enclosed by dental organ MP:0012164 abnormal conjunctiva goblet cell morphology any structural anomaly of a goblet cell that is part of the epithelium of the conjunctiva, and is the source of tear mucins which are secreted from it MP:0012165 absent neural folds absence of the elevated margins of the neural groove MP:0012166 absent neural plate absence of the flat, thickened layer of ectodermal cells in the neuroectodermal area of the embryo's dorsal surface that develops into the neural tube and neural crest MP:0012167 abnormal epigenetic regulation of gene expression any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA sequence MP:0012168 abnormal optic placode morphology any structural anomaly of the paired thickenings of surface ectoderm that become invaginated to form the embryonic lens vesicles MP:0012169 optic placode degeneration a retrogressive impairment of function or destruction of the paired thickenings of surface ectoderm that normally become invaginated to form the embryonic lens vesicles MP:0012170 absent optic placodes absence of the paired thickenings of surface ectoderm that normally become invaginated to form the embryonic lens vesicles MP:0012171 oligohydramnios presence of an abnormally low amniotic fluid volume in the amniotic sac; the opposite of polyhydramnios MP:0012172 abnormal amniotic fluid composition any alteration in the expected chemical makeup of the watery liquid within the amnion that surrounds and cushions a growing fetus; normally, early in gestation, amniotic fluid is similar to maternal plasma, mainly water with electrolytes, and later in gestation, proteins, carbohydrates, lipids, phospholipids originating from the lungs, fetal cells, and urea are deposited in the fluid MP:0012173 short rostral-caudal axis length reduction or truncation of the axis that runs from the head to the tail of the body MP:0012174 flat head the appearance of a flattened surface outline or contour of a normally rounded head of an organism MP:0012175 flat face the appearance of a flattened surface outline or contour of a normally rounded face of an organism MP:0012176 abnormal head development anomaly in the process in which the anatomical structures of the head are generated and organized MP:0012177 delayed head development late onset of the induction and/or differentiation of the head MP:0012178 absent frontonasal prominence absence of the unpaired embryonic prominence that is formed by the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout MP:0012179 abnormal splanchnic mesoderm morphology any structural abnormality of the inner layer of lateral plate mesoderm, located above (dorsally) the endoderm, which forms the circulatory system and future gut wall MP:0012180 abnormal somatic mesoderm morphology any structural abnormality of the outer layer of lateral plate mesoderm, located under (ventrally) the ectoderm, which forms the future body wall MP:0012181 increased somite number increase in the average number of somites formed relative to littermates or other controls MP:0012182 abnormal presomitic mesoderm morphology any structural anomaly of the unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form MP:0012183 decreased paraxial mesoderm size reduced size or deficiency of the mesoderm lying at either side of the midline embryonic notochord that, on segmentation, forms the paired somites MP:0012184 absent paraxial mesoderm absence or loss of the mesoderm normally found at either side of the midline embryonic notochord that, on segmentation, forms the paired somites. MP:0012185 abnormal muscle precursor cell morphology any structural anomaly of cells that will develop into muscle cells MP:0012186 abnormal muscle precursor cell physiology anomaly in the function of cells that will develop into muscle cells MP:0012187 abnormal intraembryonic coelom morphology any structural anomaly of the part of the coelom in the embryo between the somatopleuric and splanchnopleuric mesoderm; the principal body cavities of the trunk (thoracic, abdominal, and pelvic) arise from this embryonic part of the coelom MP:0012188 increased regulatory T cell apoptosis increase in the number of regulatory T cells undergoing programmed cell death MP:0012189 decreased regulatory T cell apoptosis decrease in the number of regulatory T cells undergoing programmed cell death MP:0012190 increased cytotoxic T cell apoptosis increase in the number of cytotoxic T cells undergoing programmed cell death MP:0012191 decreased cytotoxic T cell apoptosis decrease in the number of cytotoxic T cells undergoing programmed cell death MP:0012192 abnormal keratinocyte migration anomaly in the movement of keratinocyes or their precursors to the appropriate location in the body MP:0012193 increased keratinocyte migration increased or faster movement of keratinocyes or their precursors to the appropriate location in the body MP:0012194 decreased keratinocyte migration reduced or slower movement of keratinocyes or their precursors to the appropriate location in the body MP:0012195 impaired neural crest cell differentiation abnormal or arrest of differentiation of the transient and highly migratory group of cells that delaminate in early embryonic development from the dorsal neural tube and give rise to a variety of differentiated cell types MP:0012196 abnormal myofibroblast differentiation anomaly in the process in which a relatively unspecialized cell acquires specialized features of a myofibroblast, a cell that has characteristics of both a fibroblast cell and a smooth muscle cell and is reportedly capable of secreting IL-1beta, IL-6, and TNF-alpha MP:0012197 impaired myofibroblast differentiation reduced ability or inability to produce myofibroblasts, cells that have characteristics of both a fibroblast cell and a smooth muscle cell and are reportedly capable of secreting IL-1beta, IL-6, and TNF-alpha MP:0012198 absent interphalangeal joint absence of a hinge joint(s) that connects one phalanx to another along a proximodistal axis MP:0012199 abnormal interphalangeal joint morphology any structural anomaly of a hinge joint that connects one phalanx to another along a proximodistal axis MP:0012200 increased endothelial cell proliferation greater expansion rate of a endothelial cell population by cell division MP:0012201 decreased endothelial cell proliferation reduction in the expansion rate of a endothelial cell population by cell division MP:0012202 abnormal endothelial cell proliferation anomaly in the ability of an endothelial cell population to undergo expansion by cell division MP:0012203 abnormal neuronal stem cell morphology any structural anomaly of an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors MP:0012204 abnormal neuronal stem cell physiology any functional anomaly of an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors MP:0012205 abnormal neuronal stem cell self-renewal any anomaly in the process by which stem cells divide and proliferate to make more stem cells, perpetuating the stem cell pool; self-renewal is division with maintenance of the undifferentiated state MP:0012206 increased neuronal stem cell self-renewal an increased rate in the process by which stem cells divide and proliferate to make more stem cells, perpetuating an increase in the stem cell pool; self-renewal is division with maintenance of the undifferentiated state MP:0012207 decreased neuronal stem cell self-renewal a decreased rate in the process by which stem cells divide and proliferate to make more stem cells, perpetuating an decrease in the stem cell pool; self-renewal is division with maintenance of the undifferentiated state MP:0012208 abnormal hypoxanthine-guanine phosphoribosyltransferase level altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate MP:0012209 decreased hypoxanthine-guanine phosphoribosyltransferase level reduced level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate MP:0012210 increased hypoxanthine-guanine phosphoribosyltransferase level greater level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate MP:0012211 decreased thalamus hypoxanthine-guanine phosphoribosyltransferase level reduced level in the thalamus of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate MP:0012212 increased thalamus hypoxanthine-guanine phosphoribosyltransferase level greater level in the thalmus of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate MP:0012213 decreased hypothalamus hypoxanthine-guanine phosphoribosyltransferase level reduced level in the hypothalamus of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate MP:0012214 increased hypothalamus hypoxanthine-guanine phosphoribosyltransferase level greater level in the hypothalmus of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate MP:0012215 abnormal plasmalogen level anomaly in the amount of the glycerophospholipid class of lipids that contain a vinyl ether moiety at the sn-1-position of the glycerol backbone and are and enriched in polyunsaturated fatty acids at the sn-2 position of the glycerol backbone MP:0012216 decreased plasmalogen level reduction in the amount of the glycerophospholipid class of lipids that contain a vinyl ether moiety at the sn-1-position of the glycerol backbone and are and enriched in polyunsaturated fatty acids at the sn-2 position of the glycerol backbone MP:0012217 increased plasmalogen level greater amount of the glycerophospholipid class of lipids that contain a vinyl ether moiety at the sn-1-position of the glycerol backbone and are and enriched in polyunsaturated fatty acids at the sn-2 position of the glycerol backbone MP:0012218 decreased brain plasmalogen level reduction in the amount in the brain of the glycerophospholipid class of lipids that contain a vinyl ether moiety at the sn-1-position of the glycerol backbone and are and enriched in polyunsaturated fatty acids at the sn-2 position of the glycerol backbone MP:0012219 increased brain plasmalogen level greater amount in the brain of the glycerophospholipid class of lipids that contain a vinyl ether moiety at the sn-1-position of the glycerol backbone and are and enriched in polyunsaturated fatty acids at the sn-2 position of the glycerol backbone MP:0012220 abnormal ether lipid level anomaly in the amount of lipids in which one or more of the carbon atoms on glycerol is bonded to an alkyl chain via an ether linkage, as opposed to the usual ester linkage MP:0012221 abnormal circulating prothrombin level anomaly in the blood level of an inactive plasma serine protease precursor produced in the liver in the presence of vitamin K which is proteolytically cleaved into active thrombin by the action of various components (as thromboplastin) of the coagulation cascade MP:0012222 decreased circulating prothrombin level reduction in the blood level of an inactive plasma serine protease precursor produced in the liver in the presence of vitamin K which is proteolytically cleaved into active thrombin by the action of various components (as thromboplastin) of the coagulation cascade MP:0012223 increased circulating prothrombin level greater blood level of an inactive plasma serine protease precursor produced in the liver in the presence of vitamin K which is proteolytically cleaved into active thrombin by the action of various components (as thromboplastin) of the coagulation cascade MP:0012224 abnormal sterol level anomaly in the level of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated MP:0012225 decreased sterol level reduction in the level of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated MP:0012226 increased sterol level greater level of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated MP:0012227 decreased brain sterol level reduced level in the brain of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated MP:0012228 increased brain sterol level greater level in the brain of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated MP:0012229 abnormal sulfoglycosphingolipid level anomaly in the concentration or amount of the sulfolipids that contribute to myelin function and stability MP:0012230 abnormal sphingolipid level anomaly in the amount of any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid) MP:0012231 abnormal ganglioside level any anomaly in the concentration of the molecule composed of a glycosphingolipid (ceramide and oligosaccharide) with one or more sialic acids linked on the sugar chain MP:0012232 abnormal ceramide level any anomaly in the concentration of the subclass of sphingoid base derivatives with an amide-linked fatty acid, where the fatty acids are typically saturated or monounsaturated with chain lengths from 14 to 26 carbon atoms MP:0012233 abnormal acidic glycosphingolipid level anomaly in the amount of any of a subclass of glycosphingolipids that contain large polar heads composed of several sugar units and have one or more of their terminal sugar units bound to a negatively charged molecule at pH 7; negative charges can be provided by sialic acids (gangliosides), uronic acids (uronoglycosphingolipids), sulfates (sulfoglycosphingolipids), phosphates (phosphoglycosphingolipids), and phosphonates (phosphonoglycosphingolipids) MP:0012234 abnormal hepatic diverticulum morphology any structural anomaly of the out-pocket of thickened ventral foregut epithelium adjacent to the developing heart that constitutes the first morphological sign of the embryonic liver MP:0012235 abnormal liver bud morphology any structural anomaly of the liver primordium formed as hepatoblasts delaminate from the anterior portion of the hepatic diverticulum and invade the adjacent septum transversum mesenchyme MP:0012236 abnormal cholangiocyte morphology any structural anomaly of the epithelial cells of the bile duct that have primary cilia extending from their apical membrane into the ductal lumen; cholangiocytes are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts MP:0012237 increased cholangiocyte apoptosis increase in the number of epithelial cells of the bile duct undergoing programmed cell death MP:0012238 abnormal cholangiocyte primary cilium morphology any structural anomaly of the primary cilia found on the epithelial cells of the bile duct and extending from their apical membrane into the ductal lumen MP:0012239 abnormal cholangiocyte primary cilium physiology any functional anomaly of the primary cilia found on the epithelial cells of the bile duct and extending from their apical membrane into the ductal lumen; cholangiocyte cilia respond to mechanical stimuli (i.e. luminal fluid flow) by alterations in intracellular Ca2+ and cAMP and are thought to act as osmosensors that play an important role in ductal bile formation by detecting changes in luminal tonicity and inducing bicarbonate secretion MP:0012240 abnormal hepatoblast morphology any structural anomaly of the bi-potent cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into hepatocytes and cholangiocytes MP:0012241 abnormal hepatoblast physiology any functional anomaly of the bi-potent cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into hepatocytes and cholangiocytes MP:0012242 abnormal hepatoblast differentiation developmental anomaly or inability of hepatoblasts to differentiate into hepatocytes and cholangiocytes MP:0012243 decreased hepatoblast number reduced number of the bi-potent cells that retain the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into hepatocytes and cholangiocytes MP:0012244 increased hepatoblast apoptosis increase in the number of hepatoblasts undergoing programmed cell death MP:0012245 abnormal hepatoblast migration atypical migration of hepatoblasts across the basement membrane of the liver bud and/or invasion of the neighboring septum transversum mesenchyme MP:0012246 abnormal hepatic cord morphology any structural anomaly of the three-dimensional arrangement formed by plates of hepatocytes, usually one cell thick, that radiates from the center of the liver lobule; hepatic laminae are highly branched, irregular structures bordered by endothelial lined vascular spaces called hepatic sinusoids MP:0012247 absent cornea absence of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure MP:0012248 absent dermatome absence of the mesoderm that is derived from the somite that is fated to become the dermis MP:0012249 absent myotome absence of the mesoderm that is derived from the somite that is fated to become the musculature MP:0012250 absent heart valves failure to form all of the membranous folds of the heart that prevent reflux of fluid MP:0012251 abnormal diaphragm development malformation or incomplete differentiation of the thin musculomembranous barrier separating the abdominal and thoracic cavities and functioning in respiration MP:0012252 abnormal septum transversum morphology any structural anomaly of the thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions; the cranial part of the septum transversum gives rise to the central tendon of the diaphragm and is the origin of the myoblasts that invade the pleuroperitoneal folds resulting in the formation of the muscular diaphragm, and the caudal part of the septum transversum is invaded by the hepatic diverticulum which divides within it to form the liver and thus gives rise to the ventral mesentery of the foregut MP:0012253 abnormal intersomitic vessel morphology any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites MP:0012254 absent intersomitic vessels absence of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites MP:0012255 abnormal intersomitic vein morphology any structural anomaly of the vein that sprouts from the posterior cardinal vein, growing dorsally between the somites, and then joining, and draining the dorsal longitudinal anastomosing vessel MP:0012256 abnormal philtrum morphology any structural anomaly of the vertical groove found on the median line of the upper lip MP:0012257 absent philtrum absence of the vertical groove normally found on the median line of the upper lip MP:0012258 philtrum hypoplasia decrease in the number of normal cells in normal arrangement in the philtrum, typically resulting in decreased size MP:0012259 meningocele a protrusion of meninges through one or more defects in the the skull or spinal column, resulting in a cyst filled with cerebrospinal fluid; nervous tissue remains unaffected MP:0012260 encephalomeningocele hernial protrusion of the brain and its meninges through an opening or defect in the skull, most often occurring in the occipital region MP:0012261 increased hindbrain apoptosis increase in the number of cells of the hindbrain undergoing programmed cell death MP:0012262 abnormal hindbrain size deviation from the average range of hindbrain size compared to normal MP:0012263 decreased hindbrain size size reduction or truncation of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived MP:0012264 hindbrain hypoplasia decrease in the number of normal cells in normal arrangement in the hindbrain, typically resulting in decreased size MP:0012265 increased hindbrain size greater than average size of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived MP:0012266 hindbrain hyperplasia increase in the number of normal cells in normal arrangement in the hindbrain, typically resulting in increased size MP:0012267 abnormal red nucleus morphology any anomaly of the pale pink structure located in the tegmentum of the midbrain next to the substantia nigra and involved in motor coordination MP:0012268 absent red nucleus absence of the pale pink structure located in the tegmentum of the midbrain next to the substantia nigra and involved in motor coordination MP:0012269 nuchal edema abnormal accumulation of subcutaneous fluid in the nuchal region i.e. at the back of the neck MP:0012270 cardiac edema abnormal accumulation of fluid in the interstitial tissues and cavities of the body due to impaired cardiac function or congestive heart failure; usually characterized by increased venous and capillary pressures and often associated with renal sodium retention MP:0012271 abnormal chordamesoderm morphology any structural anomaly of the area of axial mesoderm that develops into the notochord MP:0012272 decreased axial mesoderm size reduced size or deficiency of the part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord MP:0012273 axial mesoderm hypoplasia decrease in the number of normal cells in normal arrangement in the axial mesoderm, typically resulting in decreased size MP:0012274 increased axial mesoderm size greater than average size of the part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord MP:0012275 abnormal prechordal mesoderm morphology any structural anomaly of the area of axial mesoderm that develops into the prechordal plate MP:0012276 absent prechordal mesoderm absence of or failure to form the area of axial mesoderm that develops into the prechordal plate MP:0012277 increased tail bud apoptosis increased number of cells undergoing programmed cell death in the primordial region of the embryo that arises to form the tail of the adult MP:0012278 abnormal cardiogenic mesoderm morphology any structural anomaly of the splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium MP:0012279 wide sternum an increase in the width of the long flat bone of the chest that articulates with the clavicle and first seven rib pairs MP:0012280 abnormal sternebra size atypical size of any of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum MP:0012281 decreased sternebra size reduced average size of any of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum MP:0012282 abnormal sternebra number deviation from the average number of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum MP:0012283 decreased sternebra number reduced average number of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum MP:0012284 increased sternebra number increased average number of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum MP:0012285 misaligned sternebrae abnormal alignment of the sternebrae along the ventral midline MP:0012286 decreased frequency of paradoxical sleep decreased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity MP:0012287 increased frequency of paradoxical sleep increased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity MP:0012288 abnormal paradoxical sleep pattern any anomaly in the frequency or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity MP:0012289 abnormal non-rapid eye movement sleep pattern any anomaly in the frequency or duration of the sleep stages characterized by distinct EEG patterns, decreased metabolic activity, slowed breathing and heart rate, and the absence of rapid eye movement and dreaming MP:0012290 abnormal slow-wave sleep pattern any anonaly in the third, or deep sleep stage of NREM sleep MP:0012291 increased slow-wave sleep duration increased length of time of the third, or deep sleep stage of NREM sleep MP:0012292 decreased slow-wave sleep duration reduced length of time of the third, or deep sleep stage of NREM sleep MP:0012293 impaired active avoidance behavior impaired ability to escape a hostile environment to actively avoid the unpleasant or punishing stimuli ( e.g. shock) previously encountered in this environment MP:0012294 enhanced active avoidance behavior enhanced ability to escape a hostile environment to actively avoid the unpleasant or punishing stimuli ( e.g. shock) previously encountered in this environment MP:0012295 enhanced discrimination learning enhanced ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus MP:0012296 impaired discrimination learning impaired ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus MP:0012297 hyperactivity elicited by feed restriction increased activity after restriction of food MP:0012298 hypoactivity in response to feed restriction decreased activity after restriction of food MP:0012299 hydropic allantois excessive accumulation of fluid within the allantoic sac MP:0012300 abnormal umbilical cord blood vessel morphology any structural anomaly of the three blood vessels, usually one large umbilical vein and two small umbilical arteries, buried within Wharton's jelly, that transport blood to and from the placenta, where exchange between the mother and fetus takes place; the umbilical vein carries oxygenated, nutrient-rich blood from the placenta to the fetus, and the umbilical arteries carry deoxygenated, nutrient-depleted blood from the fetus to the placenta MP:0012301 absent umbilical cord blood vessels absence of any of the three blood vessels, usually one large umbilical vein and two small umbilical arteries, buried within Wharton's jelly, that transport blood to and from the placenta, where exchange between the mother and fetus takes place MP:0012302 umbilical artery stenosis abnormal narrowing or constriction of one or both umbilical arteries that carry deoxygenated, nutrient-depleted blood from the fetus to the placenta MP:0012303 umbilical vein stenosis abnormal narrowing or constriction of the unpaired umbilical vein that carries oxygenated, nutrient-rich blood from the placenta to the fetus MP:0012304 short umbilical cord decreased average umbilical cord length compared to normal MP:0012305 umbilical cord hemorrhage bleeding into or from the umbilical cord MP:0012306 enhanced spatial learning enhanced ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues MP:0012307 impaired spatial learning impaired ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues MP:0012308 salt preference subjects demonstrate predilection for salty tasting substances over other offered substances MP:0012309 abnormal ductus caroticus morphology any structural anomaly of the segment of dorsal aorta located between the third (III) and fourth (IV) aortic arches; it normally regresses early in development to allow the carotid axis to take its definitive appearance MP:0012310 persistent ductus caroticus uni- or bilateral persistence of the segment of dorsal aorta located between the third (III) and fourth (IV) aortic arches, which normally regresses early in development; persistence of ductus caroticus with regression of third arch or fourth arch causes the internal and external carotid arteries to arise from the aortic arch on the left side MP:0012311 decreased defecation amount decrease in the amount of discharge of feces from the body MP:0012312 impaired avoidance learning behavior impaired ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus MP:0012313 enhanced avoidance learning behavior enhanced ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus MP:0012314 enhanced learning enhanced ability to aquire lasting change in behavior that is the result of experience MP:0012315 impaired learning impaired ability to aquire lasting change in behavior that is the result of experience MP:0012316 enhanced conditioning behavior enhanced ability to change behavior in response to a reward or punishment each time an action is performed MP:0012317 impaired conditioning behavior impaired ability to change behavior in response to a reward or punishment each time an action is performed MP:0012318 slow extinction of fear memory impaired ability or inability to extinguish aversive memories associated with a traumatic incident MP:0012319 fast extinction of fear memory enhanced ability to extinguish aversive memories associated with a traumatic incident MP:0012320 abnormal body fat mass aberrant physical bulk or volume of fat in the whole body MP:0012321 abnormal total tissue mass aberrant physical bulk or volume of the body including lean body mass, fat body mass, and bone tissue MP:0012322 decreased total tissue mass decreased physical bulk or volume of the body including lean body mass, fat body mass, and bone tissue MP:0012323 increased total tissue mass increased physical bulk or volume of the body including lean body mass, fat body mass, and bone tissue MP:0012324 abnormal circulating antithrombin level aberrant blood level of the family of glycoproteins which neutralize the ability of thrombin to promote blood coagulation MP:0012325 decreased circulating antithrombin level lower than normal levels of the family of glycoproteins which neutralize the ability of thrombin to promote blood coagulation; low levels are associated with vein thrombosis and pulmonary embolism MP:0012326 increased circulating antithrombin level higher than normal levels of the family of glycoproteins which neutralize the ability of thrombin to promote blood coagulation MP:0012327 abnormal circulating factor VIII level aberrant levels of the antihemophilic factor that is part of the factor VIII/von Willebrand factor complex; it is produced in the liver and acts in the intrinsic pathway of blood coagulation; it serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin MP:0012328 decreased circulating factor VIII level reduced levels of the antihemophilic factor that is part of the factor VIII/von Willebrand factor complex; it is produced in the liver and acts in the intrinsic pathway of blood coagulation; it serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin MP:0012329 increased circulating factor VIII level greater levels of the antihemophilic factor that is part of the factor VIII/von Willebrand factor complex; it is produced in the liver and acts in the intrinsic pathway of blood coagulation; it serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin MP:0012330 decreased circulating fibrinogen level reduced levels in the blood of a globulin that is converted into fibrin by the action of thrombin in the presence of ionized calcium to produce coagulation of the blood MP:0012331 increased circulating fibrinogen level greater levels in the blood of a globulin that is converted into fibrin by the action of thrombin in the presence of ionized calcium to produce coagulation of the blood MP:0012332 decreased circulating fibronectin level reduced blood level of the glycoprotein that binds to integrins or components of the extracellular matrix; plays a major role in cell adhesion, growth, migration, differentiation, wound healing, and embryonic development MP:0012333 increased circulating fibronectin level greater blood level of the glycoprotein that binds to integrins or components of the extracellular matrix; plays a major role in cell adhesion, growth, migration, differentiation, wound healing, and embryonic development MP:0012334 decreased circulating homocysteine level reduced amount in the blood of sulfur-containing alpha-amino acid found in the plasma; blood levels are regulated by folic acid, vitamin B6 and vitamin B12 MP:0012335 increased circulating homocysteine level greater amount in the blood of sulfur-containing alpha-amino acid found in the plasma; blood levels are regulated by folic acid, vitamin B6 and vitamin B12 MP:0012336 decreased vitamin D level reduced level of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3) MP:0012337 increased vitamin D level greater level of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3) MP:0012338 decreased bile salt level reduced level of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats MP:0012339 hyperkalemia excessively high concentrations of potassium in the circulating blood; may be due to renal insufficiency or to mineralocorticoid deficiency or resistance MP:0012340 decreased testicular teratoma incidence less than the expected number of a usually benign tumor found in the testis that is the result of an anomaly of germ cell development, occurring in a specific population in a given time period; teratomas typically contains a diversity of tissues often representing all organ systems such as hair, teeth, bone, thyroid, or nerve tissue MP:0012341 low preference for an addictive substance reduced behavioral response induced by a foreign compound, such as low consumption preference, low induced hyperactivity or stereotypic behavior MP:0012342 high preference for an addictive substance enhanced behavioral response induced by a foreign compound, such as high consumption preference, high induced hyperactivity or stereotypic behavior MP:0012343 increased gnawing activity increased biting or chewing on something MP:0012344 decreased gnawing activity decreased biting or chewing on something MP:0012345 increased tail rattling increased movement of the tail in rapid succession MP:0012346 decreased tail rattling decreased movement of the tail in rapid succession MP:0012347 low sweet preference subjects demonstrate a low predilection for sweet tasting substances over other offered substances MP:0012348 decreased susceptibility to induction of seizure by inducing agent higher threshold to induction of seizure activity response by an agent that normally can induce uncontrolled electrical activity in the brain, producing a physical convulsion and/or minor change in physical behavior MP:0012349 increased susceptibility to induction of seizure by inducing agent lower threshold to induction of seizure activity response by an agent that normally can induce uncontrolled electrical activity in the brain, producing a physical convulsion and/or minor change in physical behavior MP:0012350 increased aggression towards males in competition for females when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward males when in competition for females MP:0012351 cornea degeneration a retrogressive impairment of function or destruction of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure MP:0012352 progressive cornea degeneration the state or process of the cornea deteriorating progressively over time MP:0012353 bilateral cornea degeneration the state or process of the cornea deteriorating in both eyes MP:0012354 abnormal prothrombin time abnormal amount of time it takes plasma to clot after the addition of tissue factor e.g., platelet tissue factor, factor III, thromboplastin, CD142; measure of the quality of the extrinsic pathway of coagulation MP:0012355 decreased prothrombin time decreased amount of time it takes plasma to clot after the addition of tissue factor e.g., platelet tissue factor, factor III, thromboplastin, CD142; measure of the quality of the extrinsic pathway of coagulation MP:0012356 increased prothrombin time increased amount of time it takes plasma to clot after the addition of tissue factor e.g., platelet tissue factor, factor III, thromboplastin, CD142; measure of the quality of the extrinsic pathway of coagulation MP:0012357 abnormal partial thromboplastin time abnormal amount of time it takes blood to clot after the addition of phospholipid, calcium, and an activator, e.g., silica, kaolin; measure of the quality of the intrinsic and common coagulation pathways MP:0012358 decreased partial thromboplastin time decreased amount of time it takes blood to clot after the addition of phospholipid, calcium, and an activator, e.g., silica, kaolin; measure of the quality of the intrinsic and common coagulation pathways MP:0012359 increased partial thromboplastin time increased amount of time it takes blood to clot after the addition of phospholipid, calcium, and an activator, e.g., silica, kaolin; measure of the quality of the intrinsic and common coagulation pathways MP:0012360 abnormal large unstained cell number aberrant number of larger than normal cells which are unstained using routine blood count methodologies; large unstained cells (LUC) are larger than normal lymphocytes, and may be atypical lymphocytes, myeloperoxidase deficient cells or peroxidase negative blasts MP:0012361 decreased large unstained cell number decreased number of larger than normal cells which are unstained using routine blood count methodologies; large unstained cells (LUC) are larger than normal lymphocytes, and may be atypical lymphocytes, myeloperoxidase deficient cells or peroxidase negative blasts MP:0012362 increased large unstained cell number increased number of larger than normal cells which are unstained using routine blood count methodologies; large unstained cells (LUC) are larger than normal lymphocytes, and may be atypical lymphocytes, myeloperoxidase deficient cells or peroxidase negative blasts MP:0012363 abnormal erythrocyte sodium level anomaly in the amount in red blood cells of sodium MP:0012364 decreased erythrocyte sodium level decrease in the amount in red blood cells of sodium MP:0012365 increased erythrocyte sodium level increase in the amount in red blood cells of sodium MP:0012366 abnormal erythrocyte magnesium level anomaly in the amount in red blood cells of magnesium MP:0012367 decreased erythrocyte magnesium level decrease in the amount in red blood cells of magnesium MP:0012368 increased erythrocyte magnesium level increase in the amount in red blood cells of magnesium MP:0012369 abnormal erythrocyte potassium level anomaly in the amount in red blood cells of potassium MP:0012370 decreased erythrocyte potassium level decrease in the amount in red blood cells of potassium MP:0012371 increased erythrocyte potassium level increase in the amount in red blood cells of potassium MP:0012372 abnormal erythrocyte ion content abnormal quantity in red blood cells of atoms carrying an electric charge MP:0012373 abnormal erythrocyte magnesium ion content abnormal quantity in red blood cells of magnesium atoms carrying an electric charge MP:0012374 decreased erythrocyte magnesium ion content decreased quantity in red blood cells of magnesium atoms carrying an electric charge MP:0012375 increased erythrocyte magnesium ion content increased quantity in red blood cells of magnesium atoms carrying an electric charge MP:0012376 abnormal erythrocyte potassium ion content abnormal quantity in red blood cells of potassium atoms carrying an electric charge MP:0012377 decreased erythrocyte potassium ion content decreased quantity in red blood cells of potassium atoms carrying an electric charge MP:0012378 increased erythrocyte potassium ion content increased quantity in red blood cells of potassium atoms carrying an electric charge MP:0012379 abnormal erythrocyte sodium ion content abnormal quantity in red blood cells of sodium atoms carrying an electric charge MP:0012380 decreased erythrocyte sodium ion content decreased quantity in red blood cells of sodium atoms carrying an electric charge MP:0012381 increased erythrocyte sodium ion content increased quantity in red blood cells of sodium atoms carrying an electric charge MP:0012382 abnormal blood cell physiology aberrant measurable or observable characteristic related to the function of or processes in any of the cells found in the blood MP:0012384 abnormal erythrocyte ion transport aberrant measurable or observable characteristic related to the movement in red blood cells of atoms carrying an electric charge MP:0012385 abnormal erythrocyte potassium:chloride symporter activity aberrant catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: K+(out) + Cl-(out) = K+(in) + Cl-(in) MP:0012386 decreased erythrocyte potassium:chloride symporter activity decreased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: K+(out) + Cl-(out) = K+(in) + Cl-(in) MP:0012387 increased erythrocyte potassium:chloride symporter activity increased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: K+(out) + Cl-(out) = K+(in) + Cl-(in) MP:0012388 abnormal erythrocyte sodium:hydrogen antiporter activity aberrant catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + H+(in) = Na+(in) + H+(out) MP:0012389 decreased erythrocyte sodium:hydrogen antiporter activity decreased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + H+(in) = Na+(in) + H+(out) MP:0012390 increased erythrocyte sodium:hydrogen antiporter activity increased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + H+(in) = Na+(in) + H+(out) MP:0012391 abnormal erythrocyte sodium:potassium-exchanging ATPase activity aberrant catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Na+(in) + K+(out) = ADP + phosphate + Na+(out) + K+(in) MP:0012392 decreased erythrocyte sodium:potassium-exchanging ATPase activity decreased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Na+(in) + K+(out) = ADP + phosphate + Na+(out) + K+(in) MP:0012393 increased erythrocyte sodium:potassium-exchanging ATPase activity increased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Na+(in) + K+(out) = ADP + phosphate + Na+(out) + K+(in) MP:0012394 abnormal erythrocyte calcium-activated potassium channel activity aberrant catalysis in red blood cells of the calcium concentration-regulatable energy-independent passage of potassium ions across a lipid bilayer down a concentration gradient MP:0012395 decreased erythrocyte calcium-activated potassium channel activity decreased catalysis in red blood cells of the calcium concentration-regulatable energy-independent passage of potassium ions across a lipid bilayer down a concentration gradient MP:0012396 increased erythrocyte calcium-activated potassium channel activity increased catalysis in red blood cells of the calcium concentration-regulatable energy-independent passage of potassium ions across a lipid bilayer down a concentration gradient MP:0012397 abnormal nucleated erythrocyte cell number abnormal numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells MP:0012398 decreased nucleated erythrocyte cell number decreased numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells MP:0012399 short nails decrease in the length of the nails MP:0012400 nail dystrophy the presence of misshapen or partially destroyed nail plates, fequently with keratin often accumulating between the dystrophic nail plate and nail bed; often due to trauma or infection MP:0012401 long nails increased length of the nails MP:0012402 abnormal nail bed morphology any structural anomaly of the dermis and epidermis directly below the nail plate MP:0012403 abnormal nail plate morphology any structural anomally of the hard and translucent portion of the nail, composed of keratin, which serves to protect the tips of digits MP:0012404 abnormal nail color a variation in an expected nail color, that may be due to infection, inflammation or other causes MP:0012405 abnormal nail matrix morphology any structural anomaly of the nail-forming area of the nail bed comprised of a germinal matrix, responsible for most of the nail production, and the sterile matrix, a secondary site of nail production which is tightly adherent to the nail plate MP:0012406 increased stomach glandular epithelium tumor incidence greater than the expected number of tumors originating in the stomach glandular epithelium in a given population in a given time period MP:0012407 increased gastric gastrinoma incidence higher than normal incidence of an epithelial tumor in the stomach that secretes an excess of gastrin, occurring in a specific population in a given time period MP:0012408 increased duodenum glandular epithelium tumor incidence greater than the expected number of tumors originating in the duodenal glandular epithelium in a given population in a given time period MP:0012409 increased duodenal gastrinoma incidence higher than normal incidence of an epithelial tumor in the duodenum that secretes an excess of gastrin, occurring in a specific population in a given time period MP:0012410 increased pancreatic gastrinoma incidence higher than normal incidence of a tumor in the pancreas that secretes an excess of gastrin, occurring in a specific population in a given time period MP:0012411 increased granulosa cell tumor incidence greater than the expected number of neoplasms derived from somatic cells of the sex cord in the ovary a given population in a given time period MP:0012412 increased Type B reticulum cell tumor incidence greater than the expected number of neoplasms derived from reticulum cells in a given population in a given time period; type B neoplasms are tumors of mixed cellularity of reticulum cells, lymphocytes, plasma cells, eosinophils, and neutrophils MP:0012413 decreased muscle tumor incidence less than the expected number of tumors originating in muscle tissue in a given population in a given time period MP:0012414 decreased rhabdomyosarcoma incidence less than the expected number of a malignant tumor derived from skeletal (striated) muscle, occurring in a specific population in a given time period MP:0012415 decreased sarcoma incidence less than the expected number of a connective tissue neoplasm associated with the proliferation of embryonically-derived mesodermal cells, occurring in a specific population in a given time period MP:0012416 decreased gland tumor incidence less than the expected number of tumors originating in a gland in a given population in a given time period MP:0012417 decreased reproductive system tumor incidence less than the expected number of tumors originating in the reproductive system in a given population in a given time period MP:0012418 decreased eye tumor incidence less than the expected number of tumors originating in the eye in a given population in a given time period MP:0012419 decreased cardiovascular system tumor incidence less than the expected number of tumors originating in the cardiovascular system in a given population in a given time period MP:0012420 decreased hemolymphoid system tumor incidence less than the expected number of tumors originating in the hemolymphoid system in a given population in a given time period MP:0012421 decreased hepatobiliary system tumor incidence less than the expected number of tumors originating in the hepatobiliary system in a given population in a given time period MP:0012422 decreased integument system tumor incidence less than the expected number of tumors originating in the integument system in a given population in a given time period MP:0012423 decreased nervous system tumor incidence less than the expected number of tumors originating in the nervous system in a given population in a given time period MP:0012424 decreased alimentary system tumor incidence less than the expected number of tumors originating in the alimentary system in a given population in a given time period MP:0012425 decreased respiratory system tumor incidence less than the expected number of tumors originating in the respiratory system in a given population in a given time period MP:0012426 decreased skeletal tumor incidence less than the expected number of neoplasms in the skeletal tissue, usually in the form of a distinct mass, in a specific population in a given time period MP:0012427 decreased urinary system tumor incidence less than the expected number of tumors originating in the urinary system in a given population in a given time period MP:0012428 decreased granulosa cell tumor incidence less than the expected number of neoplasms derived from somatic cells of the sex cord in the ovary a given population in a given time period MP:0012429 decreased myoepithelioma incidence less than the expected number of neoplasms of the cells usually found in glandular epithelium as a thin layer above the basement membrane but generally beneath the luminal cells, in a given population in a given time period MP:0012430 decreased Type B reticulum cell tumor incidence less than the expected number of neoplasms derived from reticulum cells in a given population in a given time period; type B neoplasms are tumors of mixed cellularity of reticulum cells, lymphocytes, plasma cells, eosinophils, and neutrophils MP:0012431 increased lymphoma incidence greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period MP:0012432 decreased prostate gland tumor incidence less than the expected number of neoplams in the prostate gland occurring in a specific population in a given time period MP:0012433 decreased ovarian tumor incidence less than the expected number of neoplams in the ovary occurring in a specific population in a given time period MP:0012434 decreased intestinal adenoma incidence less than the expected number of a benign epithelial neoplasm with a glandular organization arising in the small and/or large intestine, occurring in a specific population in a given time period MP:0012435 decreased colon tumor incidence less than the expected number of neoplasms in the colon, usually in the form of a distinct mass, in a specific population in a given time period MP:0012436 increased colon tumor incidence greater than the expected number of neoplasms in the colon, usually in the form of a distinct mass, in a specific population in a given time period MP:0012437 increased Harderian gland tumor incidence greater than the expected number of neoplams in the Harderian gland, usually in the form of a distinct mass, in a specific population in a given time period MP:0012438 decreased Harderian gland tumor incidence less than the expected number of neoplams in the Harderian gland, usually in the form of a distinct mass, in a specific population in a given time period MP:0012439 decreased pituitary gland tumor incidence less than the expected number of neoplams in the pituitary gland, usually in the form of a distinct mass, in a specific population in a given time period MP:0012440 abnormal neutrophil cell number deviation in the count of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes MP:0012441 abnormal monocyte cell number any deviation in the count of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood MP:0012442 abnormal basophil cell number deviation of the count of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size MP:0012443 increased corpus callosum size larger thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres MP:0012444 thin hippocampus molecular cell layer decrease in the width of the cytoarchitectural region of the hippocampus consisting of a composite of the two outermost layers of the hippocampus, the Stratum lacunosum-moleculare and the Stratum radiatum MP:0012445 thin hippocampus stratum radiatum decrease in the width of the layer located immediately above the pyramidal cell layer in CA2 and CA1 and superficial to the stratum lucidum in CA3 MP:0012446 thin hippocampus stratum oriens decrease in the width of the layer that is part of the CA fields of the hippocampus consisting of a narrow relatively cell free layer located deep to the pyramidal cell layer extending through areas CA1, CA2 and CA3 MP:0012447 thick cerebellar granule layer increased thickness of the innermost cortical layer of the cerebellum that contains granule cells MP:0012448 abnormal primary motor cortex morphology any structural anomaly of the part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord; the primary motor cortex, or M1, is located on the precentral gyrus and on the anterior paracentral lobule on the medial surface of the brain MP:0012449 increased primary motor cortex size greater size of the part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord MP:0012450 decreased primary motor cortex size reduced size of the part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord MP:0012451 abnormal retrosplenial granular cortex morphology any structural anomaly of the subregion consisting of two divisions of the retrosplenial cotex, retrosplenial granular cortex A(Rga) and retrosplenial granular cortex B (Rgb), which receive dense projections from the hippocampal formation MP:0012452 increased retrosplenial granular cortex size greater size of the subregion consisting of two divisions of the retrosplenial cotex, retrosplenial granular cortex A(Rga) and retrosplenial granular cortex B (Rgb), which receive dense projections from the hippocampal formation MP:0012453 decreased retrosplenial granular cortex size reduced size of the subregion consisting of two divisions of the retrosplenial cotex, retrosplenial granular cortex A(Rga) and retrosplenial granular cortex B (Rgb), which receive dense projections from the hippocampal formation MP:0012454 abnormal mammillothalamic tract morphology any structural anomaly of the bundle of nerve fibers that projects from the mammillary body in the posterior hypothalamic region to the anterior nucleus of the thalamus MP:0012455 increased mammillothalamic tract size greater size of the bundle of nerve fibers that projects from the mammillary body in the posterior hypothalamic region to the anterior nucleus of the thalamus MP:0012456 decreased mammillothalamic tract size reduced size of the bundle of nerve fibers that projects from the mammillary body in the posterior hypothalamic region to the anterior nucleus of the thalamus MP:0012457 increased hippocampus pyramidal cell length increased length of a multipolar projection neuron in the hippocampus pyramidal cell layer MP:0012458 decreased hippocampus pyramidal cell length reduced length of a multipolar projection neuron in the hippocampus pyramidal cell layer MP:0012459 increased dentate gyrus size greater size of one of two interlocking gyri of the hippocampus formation that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus MP:0012460 decreased dentate gyrus size reduced size of one of two interlocking gyri of the hippocampus formation that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus MP:0012461 increased brain internal capsule size greater size of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord MP:0012462 decreased brain internal capsule size reduced size of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord MP:0012463 increased optic tract size greater size of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region MP:0012464 decreased optic tract size reduced size of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region MP:0012465 increased hippocampal fimbria size greater size of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which then thickens to form the fornix and fibers of the hippocampal commissure MP:0012466 decreased hippocampal fimbria size reduced size of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which then thickens to form the fornix and fibers of the hippocampal commissure MP:0012467 increased striatum size greater size of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking MP:0012468 decreased striatum size reduced size of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking MP:0012469 increased genu of the facial nerve size greater size of the bend in the facial nerve at the lateral end of the internal acoustic meatus MP:0012470 decreased genu of the facial nerve size reduced size of the bend in the facial nerve at the lateral end of the internal acoustic meatus MP:0012471 increased cerebellum interpositus nucleus size greater size of the nucelus composed of the globose and emoliform nuclei of the cerebellum; in some mammalian species the globose nucleus is not distinguishable MP:0012472 decreased cerebellum interpositus nucleus size reduced size of the nucelus composed of the globose and emoliform nuclei of the cerebellum; in some mammalian species the globose nucleus is not distinguishable MP:0012473 increased cingulate cortex size greater size of the thick belt of cortex encircling the corpus callosum that responsible for producing emotional responses to physical sensations of pain and for cognitive control MP:0012474 decreased cingulate cortex size reduced size of the thick belt of cortex encircling the corpus callosum that responsible for producing emotional responses to physical sensations of pain and for cognitive control MP:0012475 increased piriform cortex size increased size of the subdivision of the laminated olfactory cortex with only three main layers that receive monosynaptic input from the olfactory bulb via the lateral olfactory tract MP:0012476 decreased piriform cortex size reduced size of the subdivision of the laminated olfactory cortex with only three main layers that receive monosynaptic input from the olfactory bulb via the lateral olfactory tract MP:0012477 increased secondary somatosensory cortex size greater size of the area of the upper bank of the lateral sulcus that is involved in somatic sensation MP:0012478 decreased secondary somatosensory cortex size reduced size of the area of the upper bank of the lateral sulcus that is involved in somatic sensation MP:0012479 increased amygdala size greater size of the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe; this area is involved in aggression and fear responses MP:0012480 decreased amygdala size reduced size of the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe; this area is involved in aggression and fear responses MP:0012481 increased habenula size greater size of the group of nuclei that makes up the small eminence on the dorsomedial surface of the thalamus, just in front of the dorsal commissure on the lateral edge of the habenular trigone MP:0012482 decreased habenula size reduced size of the group of nuclei that makes up the small eminence on the dorsomedial surface of the thalamus, just in front of the dorsal commissure on the lateral edge of the habenular trigone MP:0012483 increased corticospinal tract size greater size of the corticospinal fibers that arise from the pyramidal cells within the cerebral cortex layer V of the precentral motor area, the premotor area and the postcentral gyrus, then descend into and through the medulla to form the lateral corticospinal tract and the anterior corticospinal tract MP:0012484 decreased corticospinal tract size reduced size of the corticospinal fibers that arise from the pyramidal cells within the cerebral cortex layer V of the precentral motor area, the premotor area and the postcentral gyrus, then descend into and through the medulla to form the lateral corticospinal tract and the anterior corticospinal tract MP:0012485 increased cochlear VIII nucleus size greater size of two paired brainstem nuclei, the dorsal cochlear nucleus and the ventral cochlear nucleus, that lie dorsal and ventral, respectively, to the inferior cerebellar peduncle at the rostral pole of the medulla; the cochlear nuclei receive input from the cochlear nerve and send projections to the inferior colliculus, the medial geniculate, and other forebrain structures MP:0012486 decreased cochlear VIII nucleus size reduced size of two paired brainstem nuclei, the dorsal cochlear nucleus and the ventral cochlear nucleus, that lie dorsal and ventral, respectively, to the inferior cerebellar peduncle at the rostral pole of the medulla; the cochlear nuclei receive input from the cochlear nerve and send projections to the inferior colliculus, the medial geniculate, and other forebrain structures MP:0012487 increased cerebellum dentate nucleus size greater size of the largest and most lateral of the deep cerebellum nuclei; it receives axons of Purkinje cells in the lateral cerebellar hemisphere (neocerebellum) and receives its afferents from the premotor cortex and the supplementary motor cortex through the pontocerebellar system, and its efferents project through the superior cerebellar peduncle and is a major source of its fibers MP:0012488 decreased cerebellum dentate nucleus size reduced size of the largest and most lateral of the deep cerebellum nuclei; it receives axons of Purkinje cells in the lateral cerebellar hemisphere (neocerebellum) and receives its afferents from the premotor cortex and the supplementary motor cortex through the pontocerebellar system, and its efferents project through the superior cerebellar peduncle and is a major source of its fibers MP:0012489 abnormal retrosplenial region morphology any structural anomaly of one of the key brain regions required for cognitive functions, including episodic memory, navigation, imagination and planning for the future; the retrosplenial region can be divided into three parts, the retrosplenial granular cortex A, the retrosplenial granular cortex B and the retrosplenial dysgranular cortex; each subdivision of the retrosplenial cortex projects to a discrete terminal field in the hippocampal formation MP:0012490 abnormal cochlear VIII nucleus morphology any structural anomaly of two paired brainstem nuclei, the dorsal cochlear nucleus and the ventral cochlear nucleus, that lie dorsal and ventral, respectively, to the inferior cerebellar peduncle at the rostral pole of the medulla; the cochlear nuclei receive input from the cochlear nerve and send projections to the inferior colliculus, the medial geniculate, and other forebrain structures MP:0012491 larynx stenosis abnormal narrowing or constriction of the organ of voice production located between the pharynx and the trachea MP:0012492 pharyngeal arch artery hypoplasia decrease in the number of normal cells in normal arrangement in the pharyngeal arch artery, typically resulting in decreased size MP:0012493 absent pharyngeal arch arteries absence of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels MP:0012494 dilated pharyngeal arch artery stretched or widened aperture of the luminal space of one or more of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels MP:0012495 pharyngeal arch artery stenosis diffuse constriction or narrowing of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels MP:0012496 abnormal pleuropericardial membrane morphology any structural anomaly of the membrane formed by the paired folds that grow out from the lateral part of the body wall; the folds fuse and meet with the dorsal and ventral mesentery of the foregut, separating the pleural cavities from the pericardial cavity MP:0012497 absent pleuropericardial membrane absence of the membrane formed by the paired folds that grow out from the lateral part of the body wall; the folds fuse and meet with the dorsal and ventral mesentery of the foregut, separating the pleural cavities from the pericardial cavity MP:0012498 abnormal cardiogenic plate morphology any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube MP:0012499 absent cardiogenic plate absence of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; normally, angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube MP:0012500 abnormal angioblastic cord morphology any structural anomaly of the cordlike masses of splanchnic mesenchymal cells ventral to the primordial pericardial coelom that arrange themselves side by side to form the primordia of the endocardial heart tubes MP:0012501 abnormal pericardial cavity morphology any structural anomaly of the anatomical body cavity in which the heart lies; the pericardial cavity forms in the lateral plate mesoderm above the buccopharyngeal membrane, as part of the early intraembryonic coelom, and is initially continuous with the two early pleural cavities MP:0012502 decreased hindbrain apoptosis decrease in the number of cells of the hindbrain undergoing programmed cell death MP:0012503 increased midbrain apoptosis increase in the number of cells of the midbrain undergoing programmed cell death MP:0012504 increased forebrain apoptosis increase in the number of cells of the forebrain undergoing programmed cell death MP:0012505 increased neural tube apoptosis increase in the number of cells of the neural tube undergoing programmed cell death MP:0012506 brain atrophy acquired diminution of the size of the brain associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0012507 midbrain atrophy acquired diminution of the size of the midbrain associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0012508 forebrain atrophy acquired diminution of the size of the forebrain associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0012509 neural tube degeneration a retrogressive impairment of function or destruction of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord) MP:0012510 abnormal aortic sac morphology any structural abnormality of the dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates MP:0012511 dilated aortic sac abnormally stretched or widened aperture of the luminal space of the endothelial lined dilation that is located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates MP:0012512 abnormal sternum body morphology any structural anomaly of the middle and longest portion of the sternum, lying between the manubrium superiorly and the xiphoid process inferiorly; the body of the sternum (gladiolus), is considerably lengthier, narrower, and thinner than the manubrium, attaining its greatest breadth close to the lower end MP:0012513 absent sternum body absence of the middle and longest portion of the sternum, lying between the manubrium superiorly and the xiphoid process inferiorly; the body of the sternum (gladiolus) is considerably lengthier, narrower, and thinner than the manubrium, attaining its greatest breadth close to the lower end MP:0012514 pectus excavatum a caved-in or sunken appearance of the anterior chest wall; the congenital deformity can either be present at birth or may not be visible until puberty MP:0012515 abnormal heart apex morphology any structural anomaly of the lowest superficial part of the heart, normally directed downward, forward, and to the left, and overlapped by the left lung and pleura; the heart apex is formed by the inferolateral part of the left ventricle and responsible for regulating ventricle contraction MP:0012516 absent metencephalon absence of the anterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain normally composed of the cerebellum and the pons Varolii MP:0012517 absent diencephalon absence or loss of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex MP:0012518 abnormal Brunner's gland morphology any structural anomaly of the branched acinotubular glands found in the submucosa of the duodenum located above the Sphincter of Oddi; their main function is to produce a mucus-rich alkaline secretion (containing bicarbonate) to protect the duodenum from the acidic content of chyme, provide an alkaline condition for the intestinal enzymes to be active (thus enabling absorption to take place), and lubricate the intestinal walls; they also secrete urogastrone, which inhibits parietal and chief cells of the stomach from secreting acid and their digestive enzymes MP:0012519 dilated Brunner's gland stretched or widened aperture of the luminal space of one or more of the branched acinotubular glands found in the submucosa of the duodenum located above the Sphincter of Oddi; their main function is to produce a mucus-rich alkaline secretion (containing bicarbonate) to protect the duodenum from the acidic content of chyme, provide an alkaline condition for the intestinal enzymes to be active (thus enabling absorption to take place), and lubricate the intestinal walls; they also secrete urogastrone, which inhibits parietal and chief cells of the stomach from secreting acid and their digestive enzymes MP:0012520 absent Brunner's glands absence of the branched acinotubular glands found in the submucosa of the duodenum located above the Sphincter of Oddi; their main function is to produce a mucus-rich alkaline secretion (containing bicarbonate) to protect the duodenum from the acidic content of chyme, provide an alkaline condition for the intestinal enzymes to be active (thus enabling absorption to take place), and lubricate the intestinal walls; they also secrete urogastrone, which inhibits parietal and chief cells of the stomach from secreting acid and their digestive enzymes MP:0012521 abnormal buccopharyngeal membrane morphology any structural anomaly of the thin bilaminar membrane derived from the prechordal plate that is devoid of mesoderm and formed by the apposition of the stomodeal ectoderm with the foregut endoderm; after the embryonic head fold has evolved it lies at the caudal limit of the stomodeum, forming a septum between the primitive mouth and pharynx; the membrane eventually disappears, and thus a communication is established between the mouth and the future pharynx MP:0012522 abnormal stomodeum morphology any structural anomaly of the primordial mouth region of the developing head, initially a midline ectodermal depression between the forebrain bulge (cranially) and the heart bulge (caudally) and between the maxillary and mandibular components of the first pharyngeal arch; the stomodeum is separated from the anterior end of the foregut by the buccopharyngeal membrane; the mouth is developed partly from the stomodeum, and partly from the floor of the anterior portion of the foregut; the lips, teeth, and gums are formed from the walls of the stomodeum, but the tongue is developed in the floor of the pharynx MP:0012523 abnormal upper lip morphology any structural anomaly of the muscular fold forming the superior border of the mouth MP:0012524 abnormal lower lip morphology any structural anomaly of the muscular fold bounding the opening of the mouth inferiorly MP:0012525 abnormal rhombic lip morphology any structural anomaly of the posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system MP:0012526 abnormal upper rhombic lip morphology any structural anomaly of the anterior-most region of dorsal hindbrain within rhombomere 1, adjacent the midbrain-hindbrain boundary MP:0012527 abnormal lower rhombic lip morphology any structural anomaly of the posterior portion of the rhombic lip contained within rhombomeres 2-8 which gives rise to several brainstem nuclei and the choroid plexus MP:0012528 abnormal zone of polarizing activity morphology any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the anterio-posterior (A-P) axis MP:0012529 abnormal decidua basalis morphology any structural anomaly of the area of uterine endometrium found between the implanted chorionic vesicle and the myometrium; with continued growth of the embryo, the decidua basalis becomes incorporated into the maternal component of the definitive placenta MP:0012530 abnormal decidua capsularis morphology any structural anomaly of the layer of uterine endometrium overlying the implanted chorionic vesicle and facing the uterine cavity MP:0012531 delayed limb development late onset of the induction and/or differentiation of the limbs MP:0012532 abnormal surface ectoderm morphology any structural anomaly of the surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm; cells from the surface ectoderm differentiate to form the epidermis; epithelia lining the mouth and nasal cavities; hair follicles and nails; the lacrimal, tarsal, salivary, sebaceous, sweat, and mammary glands, and anterior pituitary gland (adenohypophysis); inner and outer ear structures; the lens, and conjunctival and corneal epithelia; dental enamel; and the apical ectodermal ridge inducing development of the limb buds MP:0012533 uveal coloboma congenital defect of the uvea in which some part of the structure is absent MP:0012534 abnormal optic fissure morphology any structural anomaly of the ventral groove formed by invagination of the optic cup and its stalk by vascular mesenchyme from which the hyaloid vessels develop; a transient gap in the ventral margin of the developing optic cup that eventually closes to complete the eye wall inferiorly and enclose the hyaloid vessels in a canal in the optic stalk MP:0012535 abnormal optic fissure closure failure to initiate and/or complete closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its rim and posteriorly along the optic stalk; failure or late closure of the optic fissure prevents the establishment of normal fetal intraocular pressure and can result in microphthalmia associataed with colobomas MP:0012536 delayed optic fissure closure late onset of the initiation and/or completion of closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its rim and posteriorly along the optic stalk MP:0012537 abnormal hyaloid artery morphology any structural anomaly of the artery which arises from the dorsal ophthalmic artery and enters the eye cup through the optic (choroid) fissure; the hyaloid artery is contained within the optic stalk of the eye, extends from the optic disc through the vitreous humor to the lens, and serves to supply nutrients to the developing lens in the growing fetus; it usually regresses (around 2 weeks after birth in mice and before birth in humans), with its proximal portion remaining as the central artery of the retina; regression of the hyaloid artery leaves a clear central zone through the vitreous humor, called the hyaloid canal or Cloquet's canal MP:0012538 persistent hyaloid artery incomplete regression of the hyaloid artery, usually accompanied by persistence of the hyperplastic primary vitreous; small remnants of the artery may remain with free remnants sometimes seen as floating material (aka muscae volitantes); an anterior remnant of the hyaloid artery can be seen as Mittendorf's dot, a small pinpoint-like scar on the posterior surface of the lens; a posterior remnant may be seen where the artery left the optic disc, and is known as Bergmeister's papilla MP:0012539 Bergmeister's papilla a posterior remnant of the fetal hyaloid artery that arises from the center of the optic disc and consists of a small tuft of fibrous tissue MP:0012540 abnormal lamina terminalis morphology any structural anomaly of the anterior-most (rostral) portion of the wall of the neural tube, formed by closure of the anterior neuropore; the median strip of the anterior wall of the prosencephalon, which persists in a relatively unchanged state as the cerebral hemispheres grow out forward beyond the original anterior end of the prosencephalon; in the developed brain, the lamina terminalis remains as the thin rostral wall of the third ventricle, stretching from the bases of the major cerebral commissures (the anterior commissure, the commissure of the fornix, and the rostrum of the corpus callosum) to the dorsal surface of the optic chiasm MP:0012541 absent lamina terminalis absence of the anterior-most (rostral) portion of the wall of the neural tube, formed by closure of the anterior neuropore; agenesis of the lamina terminalis results in anencephaly MP:0012542 abnormal neuropore morphology any structural anomaly of either the anterior or posterior temporary opening leading from the central canal of the embryonic neural tube to the exterior; the anterior and posterior neuropores connect the lumen of the neural tube with the amniotic cavity MP:0012543 abnormal rostral neuropore morphology any structural anomaly of the temporary opening at the extreme rostral (cephalic) end of the early embryonic prosencephalon (forebrain); the anterior neuropore appears before the process of neural tube closure is complete MP:0012544 abnormal caudal neuropore morphology any structural anomaly of the temporary opening at the extreme caudal end of the neural tube in early embryos; the posterior neuropore appears before the process of neural tube closure is complete MP:0012545 syringomyelia a condition whereby a fluid-filled cyst or cavity (syrinx) develops within the spinal cord MP:0012546 triangular face a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia MP:0012547 spina bifida cystica spinal bifida in which a hernial cyst containing meninges (meningocele), spinal cord (myelocele), or both (myelomeningocele) protrudes through a congenital cleft in the vertebral column; the protruding sac is encased in a layer of skin or a fine membrane that readily ruptures, causing leakage of cerebrospinal fluid and an increased risk of meningeal infection MP:0012548 myelocele hernial protrusion of the spinal cord through an opening or defect in the vertebral column MP:0012549 hypoxemia subnormal arterial oxygen tension; deficient oxygenation of arterial blood MP:0012550 respiratory acidosis acidosis caused by retention of and increased blood concentration of carbon dioxide, often caused by decreased ventilation (hypoventilation); results in decreased blood pH unless kidneys compensate by retaining bicarbonate MP:0012551 metabolic acidosis decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease MP:0012552 lactic acidosis a form of acidosis in which an accumulation of lactic acid in tissues occurs; causes include tissue hypoxia and drug effects MP:0012553 decreased serum complement activity decreased ability of the complement proteins to act sequentially to directly kill microbes, dispose of immune complexes, and regulate other immune processes MP:0012554 increased serum complement activity increased ability of the complement proteins to act sequentially to directly kill microbes, dispose of immune complexes, and regulate other immune processes MP:0012555 decreased cell death decreased occurrence of the cessation of function at the cellular level MP:0012556 increased cell death increased occurrence of the cessation of function at the cellular level MP:0012557 decreased calcium uptake by cardiac muscle decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease MP:0012558 increased calcium uptake by cardiac muscle increased directed movement of calcium ions into the cardiac muscle; increased mitochondrial calcium ion uptake can trigger programmed necrosis in cardiac muscle MP:0012559 decreased forebrain volume decrease from the average range of forebrain volume compared to normal MP:0012560 increased forebrain volume increase from the average range of forebrain volume compared to normal MP:0012561 decreased foot pad temperature decreased degree of heat natural to the foot pad-environment interface of a living being MP:0012562 blood vessel degeneration a retrogressive impairment of function or destruction of the network of tubes that carries blood through the body MP:0012563 increased tumor incidence following infection greater than the expected number of neoplasms in a specific population after infection with a pathogen in a given time period, usually of a specific type MP:0012564 decreased tumor incidence following infection less than the expected number of neoplasms in a specific population after infection with a pathogen in a given time period, usually of a specific type MP:0012565 perivasculitis inflammation of a perivascular sheath surrounding a blood or lymph vessel, and the surrounding tissue MP:0012566 decreased susceptibility to experimental autoimmune orchitis greater likelihood that an organism will develop disease characterized by lymphocytes surrounding the tubuli recti, spermatogenic disturbance and irreversible damage to the seminiferous epithelium MP:0012567 increased susceptibility to experimental autoimmune orchitis reduced likelihood that an organism will develop disease characterized by lymphocytes surrounding the tubuli recti, spermatogenic disturbance and irreversible damage to the seminiferous epithelium MP:0012568 decreased mammary gland tumor incidence in breeding females less than the expected number of neoplams in the mammary gland in female organisms that are actively mating and producing offspring MP:0012569 decreased mammary gland tumor incidence in virgin females less than the expected number of neoplams in the mammary gland in female organisms that have never had sexual intercourse MP:0012570 increased mammary gland tumor incidence in breeding females greater than the expected number of neoplams in the mammary gland in female organisms that are actively mating and producing offspring MP:0012571 increased mammary gland tumor incidence in virgin females greater than the expected number of neoplams in the mammary gland in female organisms that have never had sexual intercourse MP:0012572 increased susceptibility to chemically induced skin inflammation decreased dosage threshold or greater inflammatory response of the skin after topical application of chemical irritants MP:0012573 decreased susceptibility to chemically induced skin inflammation increased dosage threshold, or reduced or no inflammation of the skin after topical application of chemical irritants MP:0012574 decreased noradrenaline level reduced amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine MP:0012575 increased noradrenaline level greater than normal amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine MP:0012576 abnormal kidney glutathione peroxidase activity anomaly in the ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O in kidney tissue MP:0012577 decreased kidney glutathione peroxidase activity reduced ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O in kidney tissue MP:0012578 increased kidney glutathione peroxidase activity increased ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O in kidney tissue MP:0012579 abnormal peroxidase activity anomaly in the ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O MP:0012580 decreased peroxidase activity reduced ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O MP:0012581 decreased eosinophil peroxidase activity reduced ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O in eosinophils MP:0012582 increased peroxidase activity increased ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O MP:0012583 increased eosinophil peroxidase activity increased ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O in eosinophils MP:0012584 abnormal catechol O-methyltransferase activity anomaly in the ability to catalyze the reaction: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol MP:0012585 decreased catechol O-methyltransferase activity reduction in the ability to catalyze the reaction: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol MP:0012586 increased catechol O-methyltransferase activity greater ability to catalyze the reaction: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol MP:0012587 decreased brain catechol O-methyltransferase activity reduced ability of brain tissue to catalyze the reaction: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol MP:0012588 increased brain catechol O-methyltransferase activity greater ability of brain tissue to catalyze the reaction: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol MP:0012589 abnormal choline O-acetyltransferase activity anomaly in the ability to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA MP:0012590 decreased choline O-acetyltransferase activity reduction in the ability to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA MP:0012591 increased choline O-acetyltransferase activity greater ability to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA MP:0012592 decreased brain choline acetyltransferase activity reduced ability of the brain to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA MP:0012593 increased brain choline acetyltransferase activity greater ability of the brain to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA MP:0012594 abnormal glutamate decarboxylase activity anomaly in the ability to catalyze the reaction: L-glutamate = 4-aminobutanoate + CO2 MP:0012595 decreased glutamate decarboxylase activity reduction in the ability to catalyze the reaction: L-glutamate = 4-aminobutanoate + CO2 MP:0012596 increased glutamate decarboxylase activity greater ability to catalyze the reaction: L-glutamate = 4-aminobutanoate + CO2 MP:0012597 abnormal nicotinamide N-methyltransferase activity anomaly in the ability to catalyze the reaction: S-adenosyl-L-methionine(1+) + nicotinamide = 1-methylnicotinamide + S-adenosyl-L-homocysteine MP:0012598 decreased nicotinamide N-methyltransferase activity reduction in the ability to catalyze the reaction: S-adenosyl-L-methionine(1+) + nicotinamide = 1-methylnicotinamide + S-adenosyl-L-homocysteine MP:0012599 increased nicotinamide N-methyltransferase activity greater ability to catalyze the reaction: S-adenosyl-L-methionine(1+) + nicotinamide = 1-methylnicotinamide + S-adenosyl-L-homocysteine MP:0012600 abnormal alpha-fetoprotein level any anomaly in the amount of alpha fetoprotein protein MP:0012601 decreased alpha-fetoprotein level less than the expected amount of alpha fetoprotein protein MP:0012602 increased alpha-fetoprotein level more than the expected amount of alpha fetoprotein protein MP:0012603 abnormal glutathione level anomaly in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine MP:0012604 decreased glutathione level reduction in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine MP:0012605 decreased kidney glutathione level reduction in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine in the kidney MP:0012606 increased glutathione level increase in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine MP:0012607 increased kidney glutathione level increase in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine in the kidney MP:0012608 abnormal complement C5 level any anomaly in the amount of complement C5 which is cleaved into 2 fragments, mediates inflammatory processes and forms part of the membrane attack complex MP:0012609 decreased complement C5 level decrease in the amount of complement C5 MP:0012610 increased complement C5 level increase in the amount of complement C5 MP:0012611 abnormal ceruloplasmin level any anomaly in the amount of ceruloplasmin, a ferroxidase enzyme that contains copper atoms in its structure MP:0012612 decreased ceruloplasmin level decrease in the amount of ceruloplasmin MP:0012613 increased ceruloplasmin level increase in the amount of ceruloplasmin MP:0012614 abnormal circulating factor IX level any anomaly in the concentration in the blood of coagulation factor IX, a member of the peptidase family S1 MP:0012615 decreased circulating factor IX level decrease in the concentration in the blood of coagulation factor IX, a member of the peptidase family S1 MP:0012616 increased circulating factor IX level increase in the concentration in the blood of coagulation factor IX, a member of the peptidase family S1 MP:0012617 abnormal circulating factor X level any anomaly in the concentration in the blood of coagulation factor X, a serine endopeptidase that is part of the common pathway in the coagulation cascade MP:0012618 decreased circulating factor X level decrease in the concentration in the blood of coagulation factor X MP:0012619 increased circulating factor X level increase in the concentration in the blood of coagulation factor X MP:0012620 abnormal circulating factor XIII level any anomaly in the concentration in the blood of coagulation factor 13, also known as fibrin stabilizing factor, that when activated cross-links fibrin polymers and solidifies the clot MP:0012621 decreased circulating factor XIII level decrease in the concentration in the blood of coagulation factor 13 MP:0012622 increased circulating factor XIII level increase in the concentration in the blood of coagulation factor 13 MP:0012623 abnormal acetylcholinesterase activity anomaly in the catalysis of the reaction: acetylcholine + H2O = choline + acetate MP:0012624 decreased acetylcholinesterase activity decreased rate of the catalysis of the reaction: acetylcholine + H2O = choline + acetate MP:0012625 increased acetylcholinesterase activity increased rate of the catalysis of the reaction: acetylcholine + H2O = choline + acetate MP:0012626 decreased brain acetylcholinesterase activity decreased rate of the catalysis of the reaction: acetylcholine + H2O = choline + acetate in the brain MP:0012627 increased brain acetylcholinesterase activity increased rate of the catalysis of the reaction: acetylcholine + H2O = choline + acetate in the brain MP:0012628 abnormal glutathione reductase level any anomaly in the amount of the enzyme that catalyzes the oxidation of glutathione to glutathione disulfide in the presence of NADP+ MP:0012629 decreased glutathione reductase level decrease in the amount of the enzyme that catalyzes the oxidation of glutathione to glutathione disulfide in the presence of NADP+ MP:0012630 increased glutathione reductase level increase in the amount of the enzyme that catalyzes the oxidation of glutathione to glutathione disulfide in the presence of NADP+ MP:0012631 decreased kidney glutathione reductase level decrease in the amount of the enzyme that catalyzes the oxidation of glutathione to glutathione disulfide in the presence of NADP+ in the kidney MP:0012632 increased kidney glutathione reductase level increase in the amount of the enzyme that catalyzes the oxidation of glutathione to glutathione disulfide in the presence of NADP+ in the kidney MP:0012633 increased phospholipase A2 level increase in the amount of any of the enzymes that hydrolize the acyl group attached to the two-position of phosphoglycerides MP:0012634 decreased phospholipase A2 level decrease in the amount of any of the enzymes that hydrolize the acyl group attached to the two-position of phosphoglycerides MP:0012635 abnormal monoamine oxidase activity anomaly in the ability to catalyze the reaction: RCH2NHR' + H2O + O2 = RCHO + R'NH2 + H2O2; oxygen is used to remove an amine group from a monoamine, requiring FAD as an enzymatic cofactor, and produces aldehyde and ammonia MP:0012636 decreased monoamine oxidase activity reduction in the ability to catalyze the reaction: RCH2NHR' + H2O + O2 = RCHO + R'NH2 + H2O2; oxygen is used to remove an amine group from a monoamine, requiring FAD as an enzymatic cofactor, and produces aldehyde and ammonia MP:0012637 increased monoamine oxidase activity increase in the ability to catalyze the reaction: RCH2NHR' + H2O + O2 = RCHO + R'NH2 + H2O2; oxygen is used to remove an amine group from a monoamine, requiring FAD as an enzymatic cofactor, and produces aldehyde and ammonia MP:0012638 decreased brain monoamine oxidase activity reduction in the ability to catalyze the reaction: RCH2NHR' + H2O + O2 = RCHO + R'NH2 + H2O2 in the brain; oxygen is used to remove an amine group from a monoamine, requiring FAD as an enzymatic cofactor, and produces aldehyde and ammonia MP:0012639 increased brain monoamine oxidase activity increase in the ability to catalyze the reaction: RCH2NHR' + H2O + O2 = RCHO + R'NH2 + H2O2 in brain tissue; oxygen is used to remove an amine group from a monoamine, requiring FAD as an enzymatic cofactor, and produces aldehyde and ammonia MP:0012640 abnormal benzo (alpha) pyrene hydroxylase activity anomaly in the ability to catalyze the reaction that adds -OH to a poly aromatic hydrocarbon substrate MP:0012641 decreased benzo (alpha) pyrene hydroxylase activity reduced ability to catalyze the reaction that adds -OH to a poly aromatic hydrocarbon substrate MP:0012642 increased benzo (alpha) pyrene hydroxylase activity greater ability to catalyze the reaction that adds -OH to a poly aromatic hydrocarbon substrate MP:0012643 abnormal 5-aminolevulinate synthase activity any anomaly in the ability to catalyze the reaction: glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO(2) + CoA MP:0012644 decreased 5-aminolevulinate synthase activity reduced ability to catalyze the reaction: glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO(2) + CoA MP:0012645 increased 5-aminolevulinate synthase activity increased ability to catalyze the reaction: glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO(2) + CoA MP:0012646 abnormal urokinase activity any anomaly in the ability of the serine protease to catalyze the conversion of plasminogen to active plasmin MP:0012647 decreased urokinase activity reduction in the ability of the serine protease to catalyze the conversion of plasminogen to active plasmin MP:0012648 increased urokinase activity increase in the ability of the serine protease to catalyze the conversion of plasminogen to active plasmin MP:0012649 abnormal catalase level any anomaly in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen MP:0012650 abnormal erythrocyte catalase level any anomaly in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in red blood cells MP:0012651 abnormal kidney catalase level any anomaly in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in the kidney MP:0012652 decreased catalase level reduction in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen MP:0012653 decreased erythrocyte catalase level reduction in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in red blood cells MP:0012654 decreased kidney catalase level reduction in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in the kidneys MP:0012655 increased catalase level increase in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen MP:0012656 increased erythrocyte catalase level increase in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in red blood cells MP:0012657 increased kidney catalase level increase in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in the kidneys MP:0012658 abnormal superoxide dismutase level any anomaly in the amount of the oxidoreductase that catalyzes the reaction between superoxides and hydrogen to yield molecular oxygen and hydrogen peroxide MP:0012659 decreased superoxide dismutase level reduction in the amount of the oxidoreductase that catalyzes the reaction between superoxides and hydrogen to yield molecular oxygen and hydrogen peroxide MP:0012660 increased superoxide dismutase level increase in the amount of the oxidoreductase that catalyzes the reaction between superoxides and hydrogen to yield molecular oxygen and hydrogen peroxide MP:0012661 decreased circulating ceruloplasmin level decreased amount in the blood of any of ceruloplasmin, a ferroxidase enzyme MP:0012662 increased circulating ceruloplasmin level increased amount in the blood of any of ceruloplasmin, a ferroxidase enzyme MP:0012663 decreased haptoglobin level decreased amount of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity MP:0012664 decreased circulating haptoglobin level decreased amount in the blood of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity MP:0012665 increased haptoglobin level increased amount of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity MP:0012666 increased circulating haptoglobin level increased amount in the blood of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity MP:0012667 split sternal manubrium the appearance of an abnormal division of the cranial most segment of the sternum MP:0012668 absent sternal manubrium absence of the cranial most segment of the sternum MP:0012669 abnormal somite segmentation clock anomaly or loss of the oscillatory mechanism governed by periodic shifts in gene expression and operating in the presomitic mesoderm that drives the regular periodicity with which somites are formed in the course of vertebrate segmentation. The total number of somites formed and the periodicity with which they are produced are species-specific parameters (e.g. humans have 33 somites with a somitogenesis period of approximately 6 hours while mice have 65 somites with a period of approximately 2 hours) MP:0012670 prolonged somite segmentation clock period extension of the somite segmentation clock period; may lead to decreased numbers of somites and their resultant vertebrae MP:0012671 retina spots the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits MP:0012672 enlarged trachea increased size of the tube descending from the larynx and branching into the right and left main bronchi MP:0012673 aberrant crypt foci a neoplastic lesion in which large, thick clusters of abnormal tube-like glands are found in the lining of the colon and rectum; aberrant crypt foci are precursors of colorectal polyps, adenoma and colon cancer MP:0012674 tomacula focal myelin swellings due to redundant folding of myelin sheaths; often sausage-shaped and excessively folded MP:0012675 enlarged floor plate increased size of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube MP:0012676 dilated brain ventricle the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid MP:0012677 absent brain ventricles absence of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord MP:0012678 absent fourth ventricle absence of the irregularly shaped cavity in the rhombencephalon, normally located between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; the fourth ventricle is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space MP:0012679 absent third ventricle absence of the narrow cleft located inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina MP:0012680 absent lateral ventricles absence of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; lateral ventricles are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle MP:0012681 collapsed brain ventricles the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord are severely reduced in volume or area, possibly due to reduced or absent cerebrospinal fluid production; collapsed ventricles can be a sign of increased intracranial pressure and accumulation of water in the brain parenchyma MP:0012682 abnormal septal nucleus morphology any structural anomaly of the groups of neural nuclei situated in the septal region which have afferent and cholinergic efferent connections with a variety of forebrain and brainstem areas including the hippocampus, the lateral hypothalamus, the tegmentum, and the amygdala MP:0012683 absent telencephalon absence of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures MP:0012684 abnormal pleural cavity morphology any structural anomaly of the potential space between the two pleurae (visceral and parietal) of the lungs; the pleural cavity, with its associated pleurae, aids optimal functioning of the lungs during breathing; it normally contains a thin film of serous fluid which lubricates the opposed pleural membranes so that they can glide smoothly against one another during ventilation MP:0012685 abnormal primitive streak elongation any anomaly in the process by which the primitive streak extends anteriorly and elongates towards the distal (cranial) end of the embryo to reach its full length MP:0012686 everted embryonic neuroepithelium an inside-out appearance of the embryonic neuroepithelium characteristic of defective primary neurulation resulting from failure of neural fold elevation; everted neural folds assume a convex instead of a concave morphology and fail to bend toward each other and fuse at the dorsal midline leading to exencephaly MP:0012687 abnormal heart atria weight abnormal average weight of both the left and right atria MP:0012688 abnormal heart ventricles weight abnormal average weight of both the left and right ventricles together MP:0012689 abnormal adrenal gland weight abnormal weight of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla MP:0012690 abnormal stride length abnormal average distance between steps MP:0012691 abnormal acetaminophen metabolism altered ability to metabolize acetaminophen, used as a non-narcotic analgesic, a non-steroidal anti-inflammatory and an anti-pyretic agent MP:0012692 abnormal fluoxetine metabolism altered ability to metabolize fluoxetine, an antidepressant of the selective serotonin reuptake inhibitor (SSRI) class which is commonly used to treat various psychiatric disorders MP:0012693 abnormal haloperidol metabolism altered ability to metabolize haloperidol, a butyrophenone-type antipsychotic medication used in the treatment of schizophrenia, acute psychosis, and delirium MP:0012694 abnormal lithium metabolism altered ability to metabolize lithium, commonly used as a mood-stabilizing drug, primarily in the treatment of bipolar disorder in the treatment of both depressive and particularly of mania episodes MP:0012695 abnormal nicotine metabolism altered ability to metabolize nicotine, a potent parasympathomimetic alkaloid that acts as a stimulant in mammals; nicotine activates the mesolimbic pathway in the central nervous system, which regulates feelings of reward and pleasure, and this response is thought to contribute to the addictive nature of nicotine MP:0012696 abnormal trichloroethene metabolism altered ability to metabolize trichloroethylene, a toxic, colorless, photoreactive, chlorinated hydrocarbon liquid, used as an industrial solvent, and was used a anesthetic and as an inhaled obstetrical analgesic MP:0012697 abnormal maternal body weight gain anomaly in the expected amount of female body weight gain during pregnancy MP:0012698 increased maternal body weight gain greater than the expected amount of female body weight gain during pregnancy MP:0012699 decreased maternal body weight gain reduction in the expected amount of female body weight gain during pregnancy MP:0012700 abnormal endocardial heart tube morphology any structural anomaly of the paired, longitudinal, endothelial-lined channels formed from the cardiogenic mesoderm in embryonic development; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube MP:0012701 increased embryonic neuroepithelium apoptosis increase in the number of cells of the embryonic neuroepithelium undergoing programmed cell death MP:0012702 increased embryonic neuroepithelium thickness increased width of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells MP:0012703 decreased embryonic neuroepithelium thickness reduced width of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells MP:0012704 abnormal embryonic neuroepithelial cell proliferation any anomaly in the ability of the cells of the embryonic neuroepithelium to undergo expansion by cell division MP:0012705 increased embryonic neuroepithelial cell proliferation increase in the expansion rate of the cells of the embryonic neuroepithelium by cell division MP:0012706 decreased embryonic neuroepithelial cell proliferation decrease in the expansion rate of the cells of the embryonic neuroepithelium by cell division MP:0012707 incomplete caudal neuropore closure incomplete joining together of the neural folds of the caudal opening of the neural tube; failure of caudal neuropore closure results in spina bifida, the severity of which depends on how much of the spinal cord remains exposed MP:0012708 delayed rostral neuropore closure a delay in the fusion of the cephalic neural folds MP:0012709 delayed caudal neuropore closure a delay in the joining together of the neural folds of the caudal opening of the neural tube MP:0012710 diastematomyelia a rare congenital anomaly that results in the splitting of the spinal cord in a longitudinal direction, usually at the level of the upper lumbar vertebra; this condition occurs in the presence of an osseous (bone), cartilaginous or fibrous septum in the central portion of the spinal canal which then produces a complete or incomplete sagittal division of the spinal cord into two hemicords, each half being surrounded by a dural sac; when the split does not reunite distally to the spur, the condition is referred to as a diplomyelia MP:0012711 diplomyelia true duplication of the spinal cord; each cord has two dorsal and two ventral horns and paired nerve roots, but the two cords are contained within a single dural sac MP:0012712 spinal cord degeneration a retrogressive impairment of function or destruction of the spinal cord MP:0012713 abnormal ventral ectodermal ridge morphology any structural anomaly of the morphologically distinct group of ectodermal cells that serves as an important signaling center in the mouse tail-bud following completion of gastrulation, and contains progenitor cells that contribute to the ventral midline ectoderm of the tail; ablation of the VER leads to defects in somitogenesis and tail elongation MP:0012714 decreased ventral ectodermal ridge size reduced size of the morphologically distinct group of ectodermal cells that serves as an important signaling center in the mouse tail-bud following completion of gastrulation, and contains progenitor cells that contribute to the ventral midline ectoderm of the tail MP:0012715 abnormal hemangioblast morphology any structural anomaly of the pluripotent precursor cell in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands MP:0012716 abnormal hemangioblast number deviation from the normal numbers of pluripotent precursor cells in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands MP:0012717 increased hemangioblast number increased number of the pluripotent precursor cells in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands MP:0012718 decreased hemangioblast number reduced number of the pluripotent precursor cells in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands MP:0012719 abnormal neck morphology any structural anomaly of the part of body by which the head is connected to the trunk extending from the base of the cranium to the top of the shoulders MP:0012720 elongated neck increased length of the neck MP:0012721 short neck decreased length of the neck MP:0012722 absent neck absence of the part of body by which the head is connected to the trunk extending from the base of the cranium to the top of the shoulders MP:0012723 abnormal nuchal region morphology any structural anomaly of the posterior region of the neck, including the suboccipital region MP:0012724 absent head fold inability to form the crescent-shaped, ventrally located fold of the embryonic disc at the future cephalic end of the developing embryo; the head fold constitutes the first body fold, and initiates brain, foregut and heart development MP:0012725 small sebaceous gland decreased size of the sebum secreting glands of the hair shaft MP:0012726 abnormal uterine spiral artery morphology any structural anomaly of the corkscrew-like arteries in premenstrual or progestational endometrium; uterine spiral arteries play a vital role in supplying nutrients to the placenta and fetus, and are thus remodeled into highly dilated inelastic vessels by the action of invading trophoblast (physiological change) MP:0012727 abnormal uterine spiral artery remodeling any anomaly of the physiological conversion of the uterine spiral arteries into highly dilated vessels by the action of invading trophoblast; in pregnancy, trophoblast invasion and uterine spiral artery remodeling are important for lowering maternal vascular resistance and increasing uteroplacental blood flow; this process involves loss of smooth muscle and elastic lamina from the vessel wall, and significant dilation at the mouth of the vessel; impaired spiral artery remodeling has been implicated in preeclampsia, fetal growth restriction, and preterm labor MP:0012728 abnormal somite border morphology any structural anomaly of the anatomical surface separating somites; somite formation requires the physical separation of somitic tissue from the initially continuous presomitic mesoderm (PSM), coalescence of cells in the forming somite, and the establishment of a stable border between the somite and the PSM; when a somite forms in the anterior end of the PSM, an intersomitic boundary (also called a fissure, gap, or cleft) emerges, and it is rapidly followed by a mesenchymal-to-epithelial transition of cells that face a forming gap MP:0012729 abnormal common carotid artery morphology any structural anomaly of the left or right common carotid arteries which extend headward on each side of the anterior neck and deliver oxygenated nutrient filled blood from the heart to the head, neck and brain; the left originates in the arch of the aorta over the heart; the right originates in the brachiocephalic trunk, the largest branch from the arch of the aorta; each common carotid artery divides into an external and an internal carotid artery MP:0012730 abnormal internal carotid artery morphology any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes MP:0012731 abnormal external carotid artery morphology any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the throat, neck glands, tongue, face, mouth, ear, scalp and dura mater of the meninges MP:0012732 abnormal perineural vascular plexus morphology any structural anomaly of the capillary bed that initially surrounds the relative avascular brain and spinal cord; the perineural vascular plexus (PNVP) is the precursor to the blood brain barrier formed by angioblasts which migrate away from somites and is recruited to surround the neural tube in response to VEGF; vascularization of the brain and spinal cord occurs via angiogenesis as sprouting vessels from the PNVP invade the neuroepithelium and grow inward toward the ventricular lumen MP:0012733 abnormal behavioral response to methamphetamine anomaly in the behavioral response induced by methamphetamine such as induced hyperactivity or stereotypic behavior MP:0012734 abnormal response to radiation any anomaly in the physiological changes induced by ionizing radiation such as UV light, X-rays, or gamma rays MP:0012735 abnormal response to exercise any anomaly in the physiological changes induced by controlled exercise MP:0012736 abnormal polar body morphology any structural anomaly of one of the small cells that are produced during the development of an oocyte and ultimately degenerate; a polar body contains one of the nuclei derived from the first or second meiotic division but little or no cytoplasm MP:0012737 abnormal primary polar body morphology any structural anomaly of the small cell formed by the first meiotic division of oocytes MP:0012738 abnormal secondary polar body morphology any structural anomaly of the small cell formed by the second meiotic division of oocytes; in mammals, the second polar body may fail to form unless the ovum has been penetrated by a sperm cell MP:0012739 abnormal anterior primitive streak morphology any structural anomaly of the anterior region of the vertebrate primitive streak which gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node MP:0012740 abnormal posterior primitive streak morphology any structural anomaly of the posterior region of the vertebrate primitive streak which gives rise to the extraembryonic mesoderm MP:0012741 decreased neural crest cell proliferation reduced ability of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult to undergo rapid expansion by cell division MP:0012742 increased neural crest cell proliferation enhanced ability of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult to undergo rapid expansion by cell division MP:0012743 increased inner cell mass apoptosis increased number of cells of the blastocyst that develop into the body of the embryo undergoing programmed cell death MP:0012744 increased neural crest cell apoptosis increased number of any population of neural crest cells undergoing programmed cell death MP:0012745 abnormal neural crest cell physiology any functional anomaly in the complex process by which multipotent neural crest progenitors acquire migratory and invasive properties, emigrate from the dorsal aspect of the neural tube, migrate along distinct pathways, and differentiate into diverse cell types MP:0012746 abnormal neural crest cell delamination any anomaly in the process by which a neural crest cell (NCC) physically dissociates from the neuroepithelium in the dorsal aspect of the neural tube; premigratory NCCs exist within a fully polarized epithelial layer, adjoined by adherens junctions and tight junctions; NCC delamination involves an epithelial-mesenchymal transition (EMT) during which epithelial cells are converted into migratory mesenchymal cells; EMT requires loss of apical-basal cell polarity and dissolution of tight junctions and is accompanied by changes in cytoskeletal organization and a switch in adhesive properties so that cells can separate from the neuroepithelium and emigrate MP:0012747 abnormal cardiac neural crest cell morphology any structural anomaly of the cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs migrate to the circumpharyngeal ridge (an arc-shape ridge located dorsal to the forming caudal pharyngeal arches) and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT); cardiac NCCs contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia MP:0012748 increased cardiac neural crest cell number greater than expected number of cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia MP:0012749 decreased cardiac neural crest cell number reduction in the number of cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs migrate to the circumpharyngeal ridge and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT), and contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia MP:0012750 absent cardiac neural crest cells absence or loss of the cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia; ablation of cardiac NCCs results in cardiac outflow defects MP:0012751 impaired cardiac neural crest cell differentiation abnormal or arrest of differentiation or patterning of the cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs have the potential to differentiate into smooth muscle cells of the cardiac outflow tract and its septum, walls of aortic and arch-derived arteries, all of the parasympathetic innervation of the heart, and the connective tissue of the glands in the head and neck region, including the thymus, thyroid and parathyroid glands MP:0012752 abnormal cardiac neural crest cell migration any anomaly in the migratory path of cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs which originate from the lower hindbrain between the otic placode and third somite and migrate to the circumpharyngeal ridge (an arc-shape ridge located dorsal to the forming caudal pharyngeal arches) and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT); cardiac NCCs undergo migration away from the neural tube by following a dorsolateral path under the ectoderm, leading them to the pharyngeal arches; after pausing, they resume migration under the pharyngeal endoderm and, along the aortic arch arteries, populate the cardiac OFT where they contribute the aorticopulmonary septum, and ultimately colonize the heart to form the ventricular septum and cardiac ganglia MP:0012753 increased cardiac neural crest cell apoptosis increased number of cardiac neural crest cells (NCCs) undergoing programmed cell death MP:0012754 abnormal cranial neural crest cell morphology any structural anomaly of the neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage MP:0012755 decreased cranial neural crest cell number reduction in the number of neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordial; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage MP:0012756 impaired cranial neural crest cell differentiation abnormal or arrest of differentiation or patterning of the cranial neural crest cells MP:0012757 abnormal cranial neural crest cell migration any anomaly in the migratory path of the cranial neural crest cells (NCCs), which originate in the anterior part of the developing embryo and reside between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordial; like their counterparts in the trunk, cranial NCCs contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage MP:0012758 abnormal cranial neural crest cell proliferation any anomaly in the ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division MP:0012759 increased cranial neural crest cell proliferation enhanced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division MP:0012760 decreased cranial neural crest cell proliferation reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division MP:0012761 increased cranial neural crest cell apoptosis increased number of cranial neural crest cells (NCCs) undergoing programmed cell death MP:0012762 abnormal alpha-beta T cell morphology any structural anomaly of a T cell that expresses an alpha-beta T cell receptor complex MP:0012763 abnormal alpha-beta T cell number aberrant number of T cells that expresses an alpha-beta T cell receptor complex MP:0012764 increased alpha-beta T cell number greater number of T cells that expresses an alpha-beta T cell receptor complex MP:0012765 decreased alpha-beta T cell number reduced number of T cells that expresses an alpha-beta T cell receptor complex MP:0012766 abnormal KLRG1-positive NK cell number deviation in the number of KLRG1 positive NK cells that represent a maturation subset of NK cells and is linked to NK cell proliferation MP:0012767 increased KLRG1-positive NK cell number increase in the number of KLRG1 positive NK cells that represent a maturation subset of NK cells and is linked to NK cell proliferation MP:0012768 decreased KLRG1-positive NK cell number decrease in the number of KLRG1 positive NK cells that represent a maturation subset of NK cells and is linked to NK cell proliferation MP:0012769 abnormal CD4-positive, alpha-beta memory T cell number anomaly in the number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high MP:0012770 abnormal effector memory CD4-positive, alpha-beta T cell number anomaly in the number of a CD4-positive, alpha-beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative MP:0012771 abnormal central memory CD4-positive, alpha-beta T cell number anomaly in the number of a CD4-positive, alpha-beta memory T cell with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative MP:0012772 abnormal central memory CD8-positive, alpha-beta T cell number an anomaly in the number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative MP:0012773 abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell number any anomaly in the number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release MP:0012774 abnormal CD8-positive, alpha-beta memory T cell number an anomaly in the number of CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive; this cell type is also described as being CD25-negative, CD44-high, and CD122-high MP:0012775 abnormal brain weight anomaly in the average weight of the brain MP:0012776 abnormal liver cholesterol level aberrant amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MP:0012777 abnormal liver glycogen level abnormal concentration of a readily converted carbohydrate reserve in liver MP:0012778 abnormal liver triglyceride level aberrant concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liverower than normal concentration of triacylglycerols in the liver MP:0012779 abnormal brain cholesterol level aberrant amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MP:0012780 abnormal phospholipid transfer protein activity altered ability of phospholipid transfer proteins to transfer phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL) MP:0012781 increased phospholipid transfer protein activity greater ability of phospholipd transfer proteins to transfer phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL) MP:0012782 decreased phospholipid transfer protein activity reduction in the ability of phospholipd transfer proteins to transfer phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL) MP:0012783 abnormal extensor digitorum longus weight anomaly in the weight of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle MP:0012784 abnormal rhombomere 1 morphology any structural anomaly of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus MP:0012785 decreased rhombomere 1 size reduced size of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus MP:0012786 increased rhombomere 1 size increased size of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus MP:0012787 absent rhombomere 1 absence of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus MP:0012788 abnormal rhombomere 2 morphology any structural anomaly of the second transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012789 decreased rhombomere 2 size reduced size of the second transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012790 increased rhombomere 2 size increased size of the second transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012791 absent rhombomere 2 absence of the second transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012792 abnormal rhombomere 3 morphology any structural anomaly of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012793 decreased rhombomere 3 size reduced size of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012794 increased rhombomere 3 size increased size of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012795 absent rhombomere 3 absence of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012796 abnormal rhombomere 4 morphology any structural anomaly of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012797 decreased rhombomere 4 size reduced size of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012798 increased rhombomere 4 size increased size of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012799 absent rhombomere 4 absence of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012800 abnormal rhombomere 5 morphology any structural anomaly of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012801 decreased rhombomere 5 size reduced size of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012802 increased rhombomere 5 size increased size of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012803 absent rhombomere 5 absence of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012804 abnormal rhombomere 6 morphology any structural anomaly of the sixth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012805 decreased rhombomere 6 size reduced size of the sixth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012806 increased rhombomere 6 size increased size of the sixth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012807 absent rhombomere 6 absence of the sixth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012808 abnormal rhombomere 7 morphology any structural anomaly of the seventh transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012809 decreased rhombomere 7 size reduced size of the seventh transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012810 increased rhombomere 7 size increased size of the seventh transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012811 absent rhombomere 7 absence of the seventh transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012812 abnormal rhombomere 8 morphology any structural anomaly of the eighth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012813 decreased rhombomere 8 size reduced size of the eighth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012814 increased rhombomere 8 size increased size of the eighth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012815 absent rhombomere 8 absence of the eighth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order MP:0012816 abnormal rhombomere boundary morphology any structural anomaly of the anatomical surface separating the rhombomere segments MP:0012817 rhombomere fusion the union of one or more rhombomeres into a single structure MP:0012818 rhombomere transformation homeotic transformation of a specific rhombomere to adopt the fate of another MP:0013000 absent cerebral aqueduct absence of the channel in the mesencephalon that connects the third and fourth ventricles MP:0013001 abnormal enteric neural crest cell morphology any structural anomaly of the neural crest cells that arise predominantly from the vagal region of the neural tube (vagal neural crest), adjacent to somites 1-7 and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut; neural crest cells are termed enteric neural crest-derived cells upon entering the foregut at E9-9.5 in mice (after 4 weeks gestation in humans) MP:0013002 decreased enteric neural crest cell number a reduction in the number of neural crest cells that arise predominantly from the vagal region of the neural tube (vagal neural crest), adjacent to somites 1-7 and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut MP:0013003 absent enteric neural crest cell absence or loss of the neural crest cells that arise predominantly from the vagal region of the neural tube (vagal neural crest), adjacent to somites 1-7 and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut MP:0013004 abnormal enteric neural crest cell proliferation any anomaly in the ability of the enteric neural crest cells to undergo rapid expansion by cell division MP:0013005 decreased enteric neural crest cell proliferation reduced ability of the enteric neural crest cells to undergo rapid expansion by cell division MP:0013006 abnormal enteric neural crest cell migration any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut; NCCs are termed enteric neural crest-derived cells upon entering the foregut at E9-9.5 in mice (after 4 weeks gestation in humans) and the colonization process is complete by E15.5 (after 7 weeks gestation in humans) MP:0013007 abnormal vagal neural crest cell migration any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7; at approximately E8.5-9 in the mouse, vagal NCCs invade the anterior foregut and migrate in a rostral to caudal direction to colonize the entire foregut, midgut, cecum, and hindgut and give rise to the majority of the enteric nervous system (ENS); colonization is complete by E15.5 (or after 7 weeks gestation in humans); the most caudal vagal NCCs, emanating from a region overlapping with the most anterior trunk NCCs, make a small contribution to the ENS of the esophagus and the anterior stomach MP:0013008 abnormal sacral neural crest cell migration any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise from the sacral region of the neural tube (sacral neural crest), caudal to somite 28, and migrate caudo-rostrally to contribute to a small fraction of enteric neurons and glia in the distal midgut and hindgut; in the mouse, sacral NCCs emigrate from the neural tube at E9.5, accumulate bilateral to the hindgut to form prospective pelvic ganglia at E11.5, and from there enter the distal hindgut through its ventrolateral side at E13.5; they then migrate along nerve fibers extending from the pelvic ganglia toward the proximal hindgut, intermingling with rostrocaudally migrating vagal NCCs to differentiate into neurons and glia MP:0013009 increased vagal neural crest cell apoptosis increased number of vagal neural crest cells (NCCs) undergoing programmed cell death MP:0013010 abnormal vagal neural crest cell morphology any structural anomaly of the neural crest cells (NCCs) that arise from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7 (the cranial part of the vagal level overlaps the caudal part of the cranial level, as the first few somites form adjacent to the rhombencephalon, not the spinal cord); the vagal neural crest produces the neurons and glial cells of the enteric nervous system (ENS); like NCCs from other axial levels, the vagal neural crest contributes to the neurons and glial cells of the peripheral nervous system and the melanocytes that populate the skin MP:0013011 absent vagal neural crest cells absence of the neural crest cells (NCCs) that arise from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7 MP:0013012 abnormal trunk neural crest cell migration any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise from the trunk neural crest which lies between the vagal and sacral neural crest; there are two major pathways taken by the migrating trunk NCCs: (1) one group of cells fated to become melanocytes (the melanin-forming pigment cells) migrates dorsolaterally into the ectoderm towards the ventral midline and colonizes the skin and hair follicles; (2) a second group of cells migrates ventrolaterally through the anterior portion of each sclerotome; the cells that remain in the sclerotome form the dorsal root ganglia containing the sensory neurons, whereas those that continue more ventrally form the sympathetic ganglia, chromaffin cells of the adrenal medulla, Schwann (precursor) cells, and the nerve clusters surrounding the aorta MP:0013013 abnormal trunk neural crest cell morphology any structural anomaly of the neural crest cells (NCCs) that arise from the trunk neural crest (located between the vagal and sacral neural crest) and differentiate into a variety of cell types, including melanocytes, the neurons and glia of the dorsal root and sympathetic ganglia, Schwann (precursor) cells, chromaffin cells of the adrenal medulla, and the nerve clusters surrounding the aorta MP:0013014 increased trunk neural crest cell apoptosis increased number of trunk neural crest cells (NCCs) undergoing programmed cell death MP:0013015 obsolete abnormal CD4-positive, alpha beta T cell number aberrant number of T cells that expresses an alpha-beta T cell receptor complex and the CD4 coreceptor but not NK cell markers MP:0013016 obsolete increased CD4-positive, alpha beta T cell number reduced number of T cells that expresses an alpha-beta T cell receptor complex and the CD4 coreceptor but not NK cell markers MP:0013017 obsolete decreased CD4-positive, alpha beta T cell number increased number of T cells that expresses an alpha-beta T cell receptor complex and the CD4 coreceptor but not NK cell markers MP:0013018 obsolete abnormal CD8-positive alpha beta T cell number aberrant number of T cells that expresses an alpha-beta T cell receptor complex and the CD8 coreceptor but not NK cell markers MP:0013019 obsolete increased CD8-positive, alpha beta T cell number greater number of T cells that expresses an alpha-beta T cell receptor complex and the CD8 coreceptor but not NK cell markers MP:0013020 obsolete decreased CD8-positive, alpha beta T cell number reduced number of T cells that expresses an alpha-beta T cell receptor complex and the CD8 coreceptor but not NK cell markers MP:0013021 abnormal Ly6C high monocyte number deviation in the number of monocytes that express high levels of Ly6C and low MHC class II that represent a subset of circulating inflammatory monocytes that are recruited to infected or inflamed tissues MP:0013022 increased Ly6C high monocyte number increase in the number of monocytes that express high levels of Ly6C and low MHC class II that represent a subset of circulating inflammatory monocytes that are recruited to infected or inflamed tissues MP:0013023 decreased Ly6C high monocyte number decrease in the number of monocytes that express high levels of Ly6C and low MHC class II that represent a subset of circulating inflammatory monocytes that are recruited to infected or inflamed tissues MP:0013024 abnormal Ly6C low monocyte number deviation in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes MP:0013025 increased Ly6C low monocyte number increase in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes MP:0013026 decreased Ly6C low monocyte number decrease in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes MP:0013027 wounding an injury resulting in damage that tears, cuts or breaks tissue MP:0013028 open abrasion damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin MP:0013029 open avulsion a wound where the tissue has been torn from its attachment.; avulsion of skin on the extremities is sometimes called degloving MP:0013030 open incision a wound created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal MP:0013031 open laceration an irregular wound created by tearing of tissue; damage to both superficial and underlying tissue is variable MP:0013032 open puncture a penetrating wound cause by pointed object (e.g. bites) MP:0013033 closed contusion damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush) MP:0013034 entire body wounds injuries resulting in damage that tears or breaks tissue occurring across the whole body MP:0013035 entire body open abrasion damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring across the whole body MP:0013036 entire body open avulsion a wound or wounds where the tissue has been torn from its attachment, occurring across the whole body; avulsion of skin on the extremities is sometimes called degloving MP:0013037 entire body open incision a wound or wounds created by a sharp object, occurring across the whole body; edges are smooth and trauma to surrounding tissue is minimal MP:0013038 entire body open laceration an irregular wound or wounds created by tearing of tissue, occurring across the whole body; damage to both superficial and underlying tissue is variable MP:0013039 entire body open puncture a penetrating wound or wounds occurring across the whole body caused by pointed object (e.g. bite) MP:0013040 entire body closed contusion damage of the skin and/or underlying strutures occurring across the whole body without breaking the skin (e.g. bruising, crush) MP:0013041 thorax wound injuries resulting in damage that tears or breaks tissue occurring on the thorax MP:0013042 thorax open abrasion damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the thorax MP:0013043 thorax open avulsion a wound on the thorax where the tissue has been torn from its attachment; avulsion of skin on the extremities is sometimes called degloving MP:0013044 thorax open incision a wound on the thorax created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal MP:0013045 thorax open laceration an irregular wound on the thorax created by tearing of tissue; damage to both superficial and underlying tissue is variable MP:0013046 thorax open puncture a penetrating wound on the thorax cause by pointed object (e.g. bite) MP:0013047 thorax closed contusion damage of the skin and/or underlying strutures of the thorax without breaking the skin (e.g. bruising, crush) MP:0013048 abdomen wound injuries resulting in damage that tears or breaks tissue occurring on the abdomen MP:0013049 abdomen open abrasion damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the abdomen MP:0013050 abdomen open avulsion a wound occurring on the abdomen where the tissue has been torn from its attachment MP:0013051 abdomen open incision a wound occurring on the abdomen created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal MP:0013052 abdomen open laceration an irregular wound occurring on the abdomen created by tearing of tissue; damage to both superficial and underlying tissue is variable MP:0013053 abdomen open puncture a penetrating wound occurring on the abdomen cause by pointed object (e.g. bite) MP:0013054 abdomen closed contusion damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush), occurring on the abdomen MP:0013055 genital wound injuries resulting in damage that tears or breaks tissue occurring on genital tissue MP:0013056 genital open abrasion damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin occurring on genital tissue MP:0013057 genital open avulsion a wound occurring on genital tissue where the tissue has been torn from its attachment MP:0013058 genital open incision a wound occurring on genital tissue created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal MP:0013059 genital open laceration an irregular wound occurring on genital tissue created by tearing of tissue; damage to both superficial and underlying tissue is variable MP:0013060 genital open puncture a penetrating wound occurring on genital tissue cause by pointed object (e.g. bite) MP:0013061 genital closed contusion damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush) occurring on genital tissue MP:0013062 teat wound injuries resulting in damage that tears or breaks tissue occurring on teat tissue MP:0013063 teat open abrasion damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin occurring on teat tissue MP:0013064 teat open avulsion a wound occurring on teat tissue where the tissue has been torn from its attachment MP:0013065 teat open incision a wound occurring on teat tissue created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal MP:0013066 teat open laceration an irregular wound occurring on teat tissue created by tearing of tissue; damage to both superficial and underlying tissue is variable MP:0013067 teat open puncture a penetrating wound occurring on teat tissue cause by pointed object (e.g. bite) MP:0013068 teat closed contusion damage of the skin and/or underlying strutures occurring on teat tissue without breaking the skin (e.g. bruising, crush) MP:0013069 limb wound injuries resulting in damage that tears or breaks tissue occurring on limbs MP:0013070 limb open abrasion damage to the skin occurring on limbs consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin MP:0013071 limb open avulsion a wound occurring on limbs where the tissue has been torn from its attachment; avulsion of skin on the extremities is sometimes called degloving MP:0013072 limb open incision a wound occurring on limbs created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal MP:0013073 limb open laceration an irregular wound occurring on limbs created by tearing of tissue; damage to both superficial and underlying tissue is variable MP:0013074 limb open puncture a penetrating wound occurring on limbs cause by pointed object (e.g. bite) MP:0013075 limb closed contusion damage of the skin and/or underlying strutures occurring on limbs, without breaking the skin (e.g. bruising, crush) MP:0013076 autopod wound injuries resulting in damage that tears or breaks tissue occurring on autopods MP:0013077 autopod open abrasion damage to the skin occurring on autopods consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin MP:0013078 autopod open avulsion a wound occurring on autopods where the tissue has been torn from its attachment; avulsion of skin on the extremities is sometimes called degloving MP:0013079 autopod open incision a wound occurring on autopods created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal MP:0013080 autopod open laceration an irregular wound occurring on autopods created by tearing of tissue; damage to both superficial and underlying tissue is variable MP:0013081 autopod open puncture a penetrating wound occurring on autopods cause by pointed object (e.g. bite) MP:0013082 autopod closed contusion damage of the skin and/or underlying strutures occurring on autopods, without breaking the skin (e.g. bruising, crush) MP:0013083 tail wound injuries resulting in damage that tears or breaks tissue occurring on the tail MP:0013084 tail open abrasion damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the tail MP:0013085 tail open avulsion a wound occurring on the tail where the tissue has been torn from its attachment; avulsion of skin on the extremities is sometimes called degloving MP:0013086 tail open incision a wound occurring on the tail created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal MP:0013087 tail open laceration an irregular wound occurring on the tail created by tearing of tissue; damage to both superficial and underlying tissue is variable MP:0013088 tail open puncture a penetrating wound occurring on the tail cause by pointed object (e.g. bite) MP:0013089 tail closed contusion damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush), occurring on the tail MP:0013090 head or neck wound injuries resulting in damage that tears or breaks tissue occurring on the head and/or neck MP:0013091 head or neck open abrasion damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the head and/or neck MP:0013092 head or neck open avulsion a wound where the tissue has been torn from its attachment occurring on the head and/or neck MP:0013093 head or neck open incision a wound occurring on the head and/or neck created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal MP:0013094 head or neck open laceration an irregular wound occurring on the head and/or neck created by tearing of tissue; damage to both superficial and underlying tissue is variable MP:0013095 head or neck open puncture a penetrating wound occurring on the head and/or neck cause by pointed object (e.g. bite) MP:0013096 head or neck closed contusion damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush), occurring on the head and/or neck MP:0013097 ear wound injuries resulting in damage that tears or breaks tissue occurring on the ears MP:0013098 ear open abrasion damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the ears MP:0013099 ear open avulsion a wound occurring on the ears where the tissue has been torn from its attachment MP:0013100 ear open incision a wound occurring on the ears created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal MP:0013101 ear open laceration an irregular wound occurring on the ears created by tearing of tissue; damage to both superficial and underlying tissue is variable MP:0013102 ear open puncture a penetrating wound occurring on the ears cause by pointed object (e.g. bite) MP:0013103 ear closed contusion damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush), occurring on the ears MP:0013104 nose wound injuries resulting in damage that tears or breaks tissue occurring on the nose MP:0013105 nose open abrasion damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the nose MP:0013106 nose open avulsion a wound occurring on the nose where the tissue has been torn from its attachment MP:0013107 nose open incision a wound occurring on the nose created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal MP:0013108 nose open laceration an irregular wound occurring on the nose created by tearing of tissue; damage to both superficial and underlying tissue is variable MP:0013109 nose open puncture a penetrating wound occurring on the nose cause by pointed object (e.g. bite) MP:0013110 nose closed contusion damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush), occurring on the nose MP:0013111 greasy abdomen coat fur on the abdomen is oily in appearance or texture MP:0013112 greasy thorax coat fur on the thorax is oily in appearance or texture MP:0013113 greasy tail tail is oily in appearance or texture MP:0013114 greasy head/neck head and/or neck is oily in appearance or texture MP:0013115 focal hair loss in abdominal region focal absence of hair on the abdomen, in those areas where hair is normally expected, resulting in visible patches of skin and uneven spots of hair growth on the body MP:0013116 focal hair loss in head/neck region focal absence of hair in the head and/or neck region, in those areas where hair is normally expected, resulting in visible patches of skin and uneven spots of hair growth on the body MP:0013117 focal hair loss in thorax region focal absence of hair on the thorax, in those areas where hair is normally expected, resulting in visible patches of skin and uneven spots of hair growth on the body MP:0013118 swellings appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin MP:0013119 abdomen swellings appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin in the abdominal region MP:0013120 urogenital swellings appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin in the urogenital region MP:0013121 testicular swellings appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin of the testicles MP:0013122 tail swellings appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin of the tail MP:0013123 head/neck swellings appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin in the head/neck region MP:0013124 mouth swellings appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) in the mouth region MP:0013125 thorax swellings appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin in the thorax region MP:0013126 teat swellings appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin in the teat region MP:0013127 epistaxis hemorrhage from the nose, usually apparent when the blood drains out through the nostrils MP:0013128 nipple hemorrhage bleeding from the nipples MP:0013129 abnormal tooth color anomaly in the color and shading of the teeth, which normally present in shades of white MP:0013130 abnormal gum color anomaly in the color and shading of the gums, which normally present in shades of red MP:0013131 pale lips lips lack normal reddish coloration; often occurs with a bloodless or reduced vasculature condition MP:0013132 pale gums gums lack normal reddish coloration; often occurs with a bloodless or reduced vasculature condition MP:0013133 pale limbs limbs lack normal ruddy coloration; often occurs with a bloodless or reduced vasculature condition MP:0013134 poor circulation in autopods insufficient movement of blood throughout the autopods, resulting in a pale appearance and cool to touch MP:0013135 poor circulation in tail insufficient movement of blood throughout the tail, resulting in a pale appearance and cool to touch MP:0013136 genital discharge the emission or secretion of unusual fluid from the genitals MP:0013137 nipple discharge the emission or secretion of unusual fluid from the nipples MP:0013138 thin body lean or slender in form MP:0013139 moribund in terminal decline and approaching death; lacking vitality or vigor and becoming unresponsive MP:0013140 excessive vocalization producing sound from the vocal organs more frequently or more loudly than expected MP:0013141 sexually aggressive behavior subjects exhibit greater than the normal level of domineering, assertive posturing and/or hostile physical action toward partners while mating MP:0013142 anal soreness tenderness or irritation of the anal area, usually evident by redness of the area MP:0013143 penis inflammation local accumulation of fluid, plasma proteins, and leukocytes in the penis MP:0013144 obsolete greasy skin OBSOLETE. skin is oily in appearance or texture MP:0013145 eye discharge the emission or secretion of unusual fluid from the eyes MP:0013146 eye lesions lesions on or around the eyes MP:0013147 limb paralysis severe or complete loss of power of voluntary movement in muscles of the limbs through injury or disease of muscles or of the nerve supply MP:0013148 mastitis inflammation of the teats or mammary glands MP:0013149 macrodactyly significant increase in the length and girth dimensions of most or all of a digit compared to the expected size MP:0013150 head/neck piloerection anomaly in the involuntary bristling of hairs on the head and/or neck that occurs when an organism is cold or experiences strong emotions such as fear or awe MP:0013151 abnormal incidence of induced tumors aberration from the normal frequency of tumor incidence induced by a carcinogen, mutagen or virus MP:0013152 abnormal organ/body region tumor incidence anomaly in the expected number of tumors originating in a specific body region or organ in a given population in a given time period MP:0013153 abnormal KLRG1+ CD8 alpha-beta T cell number anomaly in the number of CD8+ alpha beta T cells that express KLRG1, a marker of effector and memory T cells MP:0013154 increased KLRG1+ CD8 alpha-beta T cell number increase in the number of CD8+ alpha beta T cells that express KLRG1, a marker of effector and memory T cells MP:0013155 decreased KLRG1+ CD8 alpha-beta T cell number decrease in the number of CD8+ alpha beta T cells that express KLRG1, a marker of effector and memory T cells MP:0013156 abnormal KLRG1+ CD4 alpha-beta T cell number anomaly in the number of CD4+ alpha beta T cells that express KLRG1, a marker of effector/memory and regulatory T cells MP:0013157 increased KLRG1+ CD4 alpha-beta T cell number increase in the number of CD4+ alpha beta T cells that express KLRG1, a marker of effector/memory and regulatory T cells MP:0013158 decreased KLRG1+ CD4 alpha-beta T cell number reduction in the number of CD4+ alpha beta T cells that express KLRG1, a marker of effector/memory and regulatory T cells MP:0013159 Purkinje cell axonal dystrophy Purkinje cell-autonomous progressive dystrophy leading to cell death, manifested by axonal swellings and degeneration of nerve terminals, while Purkinje cell dendrites remain largely unaffected MP:0013160 impaired muscle regeneration decrease in the renewal, repair, and/or regrowth of muscle tissue following injury or disease MP:0013161 enhanced muscle regeneration increase in the renewal, repair, and/or regrowth of muscle tissue following injury or disease MP:0013162 abnormal thyroid gland isthmus morphology any structural anomaly of the narrow median bridge that joins together the lower thirds of the two lateral (right and left) lobes of the thyroid gland and usually covers the second and the third tracheal rings; the thyroid isthmus is variable in presence and size, can change shape and size, and can encompass a cranially extending pyramid lobe (lobus pyramidalis or processus pyramidalis), remnant of the thyroglossal duct MP:0013163 absent thyroid gland isthmus absence of the narrow median bridge that joins together the lower thirds of the two lateral (right and left) lobes of the thyroid gland MP:0013164 abnormal forelimb bud morphology any structural anomaly of the limb bud that develops into a forelimb (usually the arm or front limb in mammalian species) MP:0013165 absent forelimb buds absence or loss of the limb bud that normally develops into a forelimb (usually the arm or front limb in mammalian species) MP:0013166 small forelimb buds reduced size of the limb bud that normally develops into a forelimb (usually the arm or front limb in mammalian species) MP:0013167 abnormal hindlimb bud morphology any structural anomaly of the limb bud that develops into a hindlimb (usually the leg or back limb in mammalian species) MP:0013168 absent hindlimb buds absence or loss of the limb bud that normally develops into a hindlimb (usually the leg or back limb in mammalian species) MP:0013169 small hindlimb buds reduced size of the limb bud that normally develops into a hindlimb (usually the leg or back limb in mammalian species) MP:0013170 eye swellings appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) on or around the eyes MP:0013171 ear hemorrhage bleeding through the ear canal MP:0013172 obsolete miscarriage OBSOLETE. accidental or natural termination of a clear pregnancy at a stage where the fetus is incapable of surviving independently of the mother MP:0013173 trigeminal ganglion degeneration retrogressive pathological change of the group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve) MP:0013174 pharynx stenosis abnormal narrowing or constriction of the passage between the mouth and the posterior nares and the larynx and esophagus MP:0013175 bifurcated tail the appearance of an abnormal division in the flexible elongated appendage located at the caudal end of the torso in many species MP:0013176 abnormal tail position or orientation tail is displaced from the normal location and/or does not orient in a typical pattern MP:0013177 abnormal tail tip morphology any structural anomaly of the distal end of the tail MP:0013178 tail necrosis morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage MP:0013179 wavy tail undulations or a sinusoidal shape of the tail MP:0013180 truncated tail bud shortened tail bud that terminates in a blunt end (instead of a tapered end) MP:0013181 absent placenta absence of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin MP:0013182 increased spinal cord apoptosis increase in the number of cells of the spinal cord undergoing programmed cell death MP:0013183 absent trigeminal ganglion absence of the group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve) MP:0013184 hemorrhagic ascites the presence of bloody or blood-stained serous fluid, frequently resulting from metastatic carcinoma, in the peritoneal cavity MP:0013185 absent anterior definitive endoderm absence of the mesendoderm which first migrates from the node and which gives rise to the gut MP:0013186 abnormal basilar artery morphology any structural anomaly of the unpaired artery that is formed by the union of the two vertebral arteries, runs forward within the skull just under the pons, divides into the two posterior cerebral arteries, and supplies the pons, cerebellum, posterior part of the cerebrum, and the inner ear MP:0013187 dilated basilar artery stretched or widened aperture of the luminal space of the unpaired artery that is formed by the union of the two vertebral arteries, runs forward within the skull just under the pons, divides into the two posterior cerebral arteries, and supplies the pons, cerebellum, posterior part of the cerebrum, and the inner ear MP:0013188 abnormal gastrocnemius weight any anomaly of the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles MP:0013189 abnormal exploration in a new environment anomaly in the amount of time spent investigating new location MP:0013190 abnormal sebaceous gland number any anomaly in the number of the holocrine glands that secrete sebum into the hair follicles, or in hairless areas into ducts MP:0013191 increased sebaceous gland number greater than normal numbers of the holocrine glands that secrete sebum into the hair follicles, or in hairless areas into ducts MP:0013192 decreased sebaceous gland number fewer than normal numbers of the holocrine glands that secrete sebum into the hair follicles, or in hairless areas into ducts MP:0013193 sebaceous gland hypoplasia decrease in the number of normal cells in normal arrangement in the sebaceous gland, typically resulting in decreased size MP:0013194 absent anterior primitive streak absence of the anterior region of the vertebrate primitive streak which normally gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node MP:0013195 abnormal anterior primitive streak formation anomaly in the establishment of the anterior region of the vertebrate primitive streak which normally gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node MP:0013196 abnormal posterior primitive streak formation anomaly in the establishment of the posterior region of the vertebrate primitive streak which gives rise to the extraembryonic mesoderm MP:0013197 decreased embryonic cilium number reduced number of the cilia of the mouse embryo found on the cells of the embryonic node MP:0013198 absent head mesenchyme absence of the primordial embryonic connective tissue of the developing head, normally consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells MP:0013199 increased head mesenchyme apoptosis increase in the number of cells of the head mesenchyme undergoing programmed cell death MP:0013200 head mesenchyme hypoplasia decrease in the number of normal cells in normal arrangement in the head mesenchyme, typically resulting in decreased size MP:0013201 head mesenchyme hyperplasia increase in the number of normal cells in normal arrangement in the head mesenchyme, typically resulting in increased size MP:0013202 abnormal cilium morphology any structural anomaly of the specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface; each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole MP:0013203 abnormal primary cilium morphology any structural anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors MP:0013204 obsolete abnormal motile primary cilium morphology any structural anomaly of a primary cilium which may contain a variable array of axonemal microtubules and also contains molecular motors; motile primary cilia display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization MP:0013205 abnormal nonmotile primary cilium morphology any structural anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate and organize sensory signaling molecules MP:0013206 abnormal motile cilium morphology any structural anomaly of a cilium which has a variable arrangement of axonemal microtubules, contains molecular motors, and beats with a characteristic whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface; motile cilia are typically found in multiple copies on epithelial cells that line the lumenal ducts of various tissues and may also function as sensory organelles MP:0013207 absent endoderm absence of the innermost of the three primary germ layers of the embryo (the others being mesoderm and ectoderm) that is formed during gastrulation MP:0013208 abnormal cilium physiology any functional anomaly of the specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface; each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole MP:0013209 abnormal motile cilium physiology any functional anomaly of a cilium which has a variable arrangement of axonemal microtubules, contains molecular motors, and beats with a characteristic whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface; motile cilia are typically found in multiple copies on epithelial cells that line the lumenal ducts of various tissues and may also function as sensory organelles MP:0013210 abnormal primary cilium physiology any functional anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors MP:0013211 abnormal nonmotile primary cilium physiology any functional anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate and organize sensory signaling molecules MP:0013212 obsolete abnormal motile primary cilium physiology any functional anomaly of a primary cilium which may contain a variable array of axonemal microtubules and also contains molecular motors; motile primary cilia display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization MP:0013213 abnormal embryonic neuroepithelium primary cilium morphology any structural anomaly of the primary non-motile microtubule-based structures of the embryonic neuroepithelium which are typically short and straight, project apically into the neural tube lumen, and play an essential role in Sonic hedgehog (Shh) signalling and neural tube patterning MP:0013214 decreased embryonic neuroepithelium primary cilium number reduced number of the primary non-motile microtubule-based structures of the embryonic neuroepithelium which are typically short and straight, project apically into the neural tube lumen, and play an essential role in Sonic hedgehog (Shh) signalling and neural tube patterning MP:0013215 abnormal haptoglobin level anomaly in the amount of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity MP:0013216 absent ectoderm absence of the outer of the three primary germ layers of the embryo (the others being mesoderm and endoderm) that originates in the epiblast and is formed during gastrulation MP:0013217 abnormal posterior definitive endoderm morphology any structural anomaly of the posterior region of the definitive endoderm which evolves into the midgut and hindgut, which will eventually differentiate into the large and small intestine MP:0013218 abnormal substantia nigra pars reticulata morphology any structural anomaly of the anterior (ventral) part of grey matter of the substantia nigra which contains smaller and loosely packed cells than the pars compacta, only some of which contain a small amount of pigment; the cells of pars reticulata bear a strong structural and functional resemblance to the inner segment of the globus pallidus; many cells in this region use GABA as a neurotransmitter MP:0013219 abnormal substantia nigra pars compacta morphology any structural anomaly of the posterior (dorsal) part of grey matter of the substantia nigra which contains large, polygonal, and densely packed dopamine-producing cells; pars compacta neurons are pigmented in many species MP:0013220 increased pancreas apoptosis increase in the number of cells of the pancreas undergoing programmed cell death MP:0013221 pancreatic acinar-to-ductal metaplasia a reprogramming event that induces transdifferentiation of pancreatic acinar cells to a duct-like phenotype in response to inflammatory injury; ADM is associated with an increased risk of exocrine pancreatic cancer and is considered a precursor of pancreatic ductal adenocarcinoma MP:0013222 abnormal first pharyngeal pouch morphology any structural anomaly of the first endodermal branchial pouch located between the first and second branchial arches; in mammals, the first pouch elongates to form a diverticulum known as the tubotympanic recess; the distal portion of this recess expands to reach the first branchial groove and form the middle ear cavity (aka tympanic cavity) and mastoid antrum; its proximal part remains tubular and forms the auditory tube (aka Eustachian or pharyngotympanic tube), which forms a communication between the nasopharynx and tympanic cavity MP:0013223 abnormal second pharyngeal pouch morphology any structural anomaly of the second branchial pouch located between the second and third branchial arches; the dorsal elongation of the second pouch endoderm of all mammals, with the exception of rodents, gives rise to the epithelial lining of palatine tonsils; in rodents, the ventral portion of the second pouch appears to degenerate whereas the remaining part is incorporated into the lateral border of the pharynx; it appears that rodents no longer require tonsils as their function is carried out by the NALT (Nose/Nasal-Associated Lymphoid Tissue) system in the upper respiratory tract MP:0013224 absent second pharyngeal pouch absence of the second branchial pouch, normally located between the second and third branchial arches; the dorsal elongation of the second pouch endoderm of all mammals, with the exception of rodents, gives rise to the epithelial lining of palatine tonsils MP:0013225 abnormal third pharyngeal pouch morphology any structural anomaly of the third endodermal branchial pouch located between the third and fourth branchial arches; in mammals, the cranial dorsal aspect of the third pouch generates the inferior parathyroids (or parathyroid III), whereas the caudal ventral part of the pouch gives rise to the thymus epithelium MP:0013226 absent third pharyngeal pouch absence of the third endodermal branchial pouch, normally located between the third and fourth branchial arches; in mammals, the cranial dorsal aspect of the third pouch generates the inferior parathyroids (or parathyroid III), whereas the caudal ventral part of the pouch gives rise to the thymus epithelium MP:0013227 small brain ventricles decreased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord MP:0013228 brain ventricle stenosis abnormal narrowing or constriction of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord MP:0013229 abnormal brain ventricle size any anomaly in the size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord MP:0013230 abnormal cervical sinus morphology any structural anomaly of the temporary triangular depression found in the nuchal region caudal to the second (hyoid) branchial arch, and containing the succeeding branchial arches and grooves; the sinus is overgrown by the second branchial arch and is ultimately obliterated during extension of the cervical flexure MP:0013231 abnormal pharyngeal groove morphology any structural anomaly of the ectodermally lined depressions (grooves or clefts) that separate the branchial arches externally on each side; only the first of the four pairs of branchial grooves persists in the adult to form the epithelium of the external auditory meatus and part of the tympanic membrane; the second, third, and fourth grooves are overlapped by the development of branchial arch 2 and form a slit-like depression known as the cervical sinus which is ultimately obliterated by the fusion of its walls during extension of the cervical flexure MP:0013232 abnormal pharyngeal membrane morphology any structural anomaly of any of the four membranes that separate the branchial pouches from the corresponding branchial grooves in a developing embryo; each membrane is initially composed of an inner layer formed by the endodermal lining of a branchial pouch and an outer layer formed by the ectodermal lining of the branchial groove; later, these two layers become separated by a thin layer of mesoderm; only the first branchial membrane contributes to the formation of an adult structure, i.e. the tympanic membrane (aka eardrum); the second, third, and fourth membranes are obliterated MP:0013233 ectopic thyroid gland a thyroid gland located outside of its normal position anterior to the laryngeal cartilages; usually due to abnormal migration of the thyroid diverticulum down from the foramen cecum at the posterior aspect of the tongue to its permanent pre-tracheal location; ectopic thyroid tissue is frequently found along the course of the thyroglossal duct or laterally in the neck, as well as in distant places such as the mediastinum and the subdiaphragmatic organs; the most common ectopic location is near its embryological origin at the foramen caecum, resulting in a lingual thyroid MP:0013234 abnormal tongue foramen cecum morphology any structural anomaly of the median pit on the dorsum of the posterior part of the tongue, from which the limbs of a V-shaped furrow run forward and outward; the foramen cecum is the point of attachment of the thyroglossal duct and is formed during the embryological descent of the thyroid gland MP:0013235 abnormal thyroglossal duct morphology any structural anomaly of the embryological anatomical structure that forms an open connection between the initial area of development of the thyroid gland and its final position; it is located exactly midline, between the anterior 2/3rds and posterior 1/3rd of the tongue; this duct normally atrophies and closes off as the foramen cecum before birth MP:0013236 ovary degeneration a retrogressive impairment of function or destruction of one or both ovaries MP:0013237 abnormal skeletal muscle regeneration anomaly in the renewal, repair, and/or regrowth of skeletal muscle tissue following injury or disease MP:0013238 abnormal cardiac muscle regeneration anomaly in the renewal, repair, and/or regrowth of cardiac muscle tissue following injury or disease MP:0013239 impaired skeletal muscle regeneration decrease in the renewal, repair, and/or regrowth of skeletal muscle tissue following injury or disease MP:0013240 impaired cardiac muscle regeneration decrease in the renewal, repair, and/or regrowth of cardiac muscle tissue following injury or disease MP:0013241 embryo tissue necrosis morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage MP:0013242 abnormal amino acid metabolism any anomaly in the chemical reactions and pathways involving an amino acid, including metabolic, catabolic and biosynthetic processes MP:0013243 abnormal carbohydrate metabolism any anomaly in the chemical reactions and pathways involving a carbohydrate, including metabolic, catabolic and biosynthetic processes MP:0013244 abnormal vitamin metabolism any anomaly in the chemical reactions and pathways involving a vitamin, including metabolic, catabolic and biosynthetic processes MP:0013245 abnormal lipid metabolism any anomaly in the chemical reactions and pathways involving a lipid, including metabolic, catabolic and biosynthetic processes MP:0013246 abnormal peptide metabolism any anomaly in the chemical reactions and pathways involving a peptide, including metabolic, catabolic and biosynthetic processes MP:0013247 placenta necrosis morphological changes resulting from pathological death of placenta tissue; usually due to irreversible damage MP:0013248 placenta junctional zone necrosis morphological changes resulting from pathological death of placenta junctional zone tissue; usually due to irreversible damage MP:0013249 adipose tissue necrosis morphological changes resulting from pathological death of adipose tissue; usually due to irreversible damage MP:0013250 abnormal dental pulp morphology any structural anomaly of the soft tissue within the pulp cavity located in the center of a tooth, comprised of living connective tissue containing blood vessels, nerves and lymphatics, and a layer of odontoblasts at the periphery, which participate in dentin repair MP:0013251 dental pulp necrosis morphological changes resulting from pathological death of dental pulp tissue; usually due to irreversible damage MP:0013252 head mesenchyme necrosis morphological changes resulting from pathological death of head mesenchyme tissue; usually due to irreversible damage MP:0013253 outer ear necrosis morphological changes resulting from pathological death of outer ear tissue; usually due to irreversible damage MP:0013254 abnormal angiotensin I-converting enzyme activity altered activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin MP:0013255 abnormal circulating thrombin level anomaly in the blood level of the a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions; it is generated from regulated proteolytic cleavage of prothrobmin during the coagulation cascade MP:0013256 increased circulating thrombin level increased blood level of the a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions; it is generated from regulated proteolytic cleavage of prothrobmin during the coagulation cascade MP:0013257 decreased circulating thrombin level reduction in the blood level of the a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions; it is generated from regulated proteolytic cleavage of prothrobmin during the coagulation cascade MP:0013258 abnormal extracellular matrix morphology any structural anomaly of the structure lying external to one or more cells, which provides structural support for cells or tissues; in mammals, the extracellular matrix is completely external to the cell MP:0013259 abnormal dendritic cell apoptosis change in the timing or the number of dendritic cells undergoing programmed cell death MP:0013260 decreased dendritic cell apoptosis reduction in the timing or the number of dendritic cells undergoing programmed cell death MP:0013261 absent epiglottis missing the most superior of the laryngeal cartilages, which normally is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink MP:0013262 abnormal mouth floor morphology any structural morphology of the ventral area of the mouth; in organisms with a tongue, a small horseshoe-shaped region situated beneath the movable part of the tongue and above the muscular diaphragm formed by the mylohyoid muscles; a median fold of mucous membrane, the lingual frenulum, connects the inferior surface of the tongue to the floor of the mouth MP:0013263 abnormal tongue frenulum morphology any structural anomaly of the small fold of mucous membrane extending from the floor of the mouth to the midline of the underside of the tongue MP:0013264 tongue ankylosis partial or complete fusion or adherence of the tongue to the floor of the mouth, resulting in varying degrees of restricted tongue mobility; partial ankyloglossia (aka tongue-tie) is caused by a lingual frenulum that is abnormally short or is attached too close to the tip of the tongue; in complete ankyloglossia the tongue is tethered to the floor of the mouth MP:0013265 abnormal fourth pharyngeal pouch morphology any structural anomaly of the fourth endodermal branchial pouch located between the fourth and sixth branchial arches (a fifth arch never establishes itself in amniotes); in most mammals, excluding rodents, the dorsal part of each fourth pouch develops into a superior parathyroid gland (parathyroid IV), which lies on the dorsal surface of the thyroid gland (the parathyroid glands derived from the third pouches descend with the thymus and are carried to a more inferior position than the parathyroid glands that are derived from the fourth pouches); the elongated ventral part of each fourth pouch develops into the ultimopharyngeal body, which fuses with the thyroid gland, giving rise to the calcitonin-producing parafollicular or C-cells of the thyroid gland MP:0013266 absent fourth pharynegal pouch absence of the fourth endodermal branchial pouch, normally located between the fourth and sixth branchial arches (a fifth arch never establishes itself in amniotes); in most mammals, excluding rodents, the dorsal part of each fourth pouch develops into a superior parathyroid gland (parathyroid IV), which lies on the dorsal surface of the thyroid gland; the elongated ventral part of each fourth pouch develops into the ultimopharyngeal body, which fuses with the thyroid gland, giving rise to the calcitonin-producing parafollicular or C-cells of the thyroid gland MP:0013267 first pharyngeal arch hypoplasia decrease in the number of normal cells in normal arrangement in the first pharyngeal arch, typically resulting in decreased size MP:0013268 second pharyngeal arch hypoplasia decrease in the number of normal cells in normal arrangement in the second pharyngeal arch, typically resulting in decreased size MP:0013269 third pharyngeal arch hypoplasia decrease in the number of normal cells in normal arrangement in the third pharyngeal arch, typically resulting in decreased size MP:0013270 fourth pharyngeal arch hypoplasia decrease in the number of normal cells in normal arrangement in the fourth pharyngeal arch, typically resulting in decreased size MP:0013271 sixth pharyngeal arch hypoplasia decrease in the number of normal cells in normal arrangement in the sixth pharyngeal arch, typically resulting in decreased size MP:0013272 abnormal translation any anomaly in the cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA molecule to specify the sequence of amino acids in a polypeptide chain; translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA; translation ends with the release of a polypeptide chain from the ribosome MP:0013273 abnormal translational elongation any anomaly in the process of successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis MP:0013274 abnormal vitamin or vitamin cofactor metabolism any anomaly in the chemical reactions and pathways involving a vitamin or cofactor, including metabolic, catabolic and biosynthetic processes MP:0013275 abnormal xenobiotic metabolism any anomaly in the chemical reactions and pathways involving a xenobiotic, including metabolic, catabolic and biosynthetic processes MP:0013276 absent alpha-beta T cells absence of the lymphocytes that are responsible for cell-mediated immunity and immune system regulation and express an alpha-beta T cell receptor complex MP:0013277 abnormal fasting circulating glucose level any anomaly in the amount of glucose in the blood at some defined time point after eating compared to controls MP:0013278 decreased fasting circulating glucose level reduction in the amount of glucose in the blood at some defined time point after eating compared to controls MP:0013279 increased fasting circulating glucose level increase in the amount of glucose in the blood at some defined time point after eating compared to controls MP:0013280 abnormal cytotoxic T cell cytolysis altered ability of cytotoxic T cells to induce pathological breakdown of target cells by the destruction of their outer membrane MP:0013281 increased cytotoxic T cell cytolysis increased ability of cytotoxic T cells to induce pathological breakdown of target cells MP:0013282 urinary bladder exstrophy a herniation of the urinary bladder through an anterior abdominal wall defect; refers to congenital absence of a portion of the lower anterior abdominal wall and the anterior urinary bladder wall, with eversion of the posterior bladder wall through the defect, an open pubic arch, and widely separated ischia connected by a fibrous band MP:0013283 failure of ventral body wall closure failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the head and tail folds that cause the embryo to curve into the fetal position and is complete except in the region of the connecting stalk (future umbilical cord); if closure fails, ventral body wall defects occur in the thorax, abdomen, and pelvis and involve the heart (ectopia cordis), abdominal viscera (gastroschisis), and/or urogenital organs (bladder or cloacal exstrophy), depending upon the location and size of the abnormality MP:0013284 abnormal renal glomerular filtration anomaly in the process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells MP:0013285 abnormal renal filtration any anomaly in the renal system process in which fluid circulating through the body is filtered through a barrier system MP:0013286 abnormal sperm capacitation anomaly in the series of morphological and molecular maturational processes undergone by spermatozoa in the female genital tract that enable them to penetrate and fertilize an egg MP:0013287 abnormal acrosome reaction anomaly in the discharge, by sperm, of a single, anterior secretory granule following the sperm's attachment to the zona pellucida of the oocyte; the process begins with the fusion of the outer acrosomal membrane with the sperm plasma membrane and ends with the exocytosis of the acrosomal contents into the zona pellucida MP:0013288 premature acrosome reaction spontaneous initiation of the cellular exocytosis that allows sperm to penetrate the zona pellucida of ovulated eggs, occurring prior to encountering conditions that induce sperm capacitation MP:0013289 abnormal mitotic cytokinesis any anomaly in the process that results in the division of the cytoplasm of a cell after mitosis, this process consists of two distinct processes furrowing and abscission MP:0013290 persistent ultimobranchial bodies partial or complete failure of the ultimobranchial bodies to fuse with the ventral thyroid primordium; as a result, ultimobranchial bodies remain as unilateral or bilateral vesicles composed exclusively of calcitonin-producing cells MP:0013291 ectopic pancreas presence of well-developed and normally organized pancreatic tissue lying outside its normal location without any anatomical and vascular continuity with the pancreas proper; although an ectopic pancreas can occur throughout the entire gastrointestinal tract, it is most commonly located in the stomach, duodenum, jejunum or Meckel's diverticulum MP:0013292 embryonic lethality prior to organogenesis death prior to the completion of embryo turning (Mus: E9-9.5) MP:0013293 embryonic lethality prior to tooth bud stage death prior to the appearance of tooth buds (Mus: E12-E12.5) MP:0013294 prenatal lethality prior to heart atrial septation death prior to the completion of heart atrial septation (Mus: E14.5-15.5) MP:0013295 pancreas atrophy acquired size diminution of any portion of the pancreas, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0013296 abnormal susceptibility to induced colitis difference in the severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) MP:0013297 abnormal susceptibility to colitis induced morbidity/mortality differences from the expected moribund state caused by colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) MP:0013298 increased susceptibility to colitis induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) MP:0013299 decreased susceptibility to colitis induced morbidity/mortality reduced likelihood that an organism will display the expected moribund state caused by colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) MP:0013300 abnormal submandibular gland physiology any functional anomaly of either of the large major salivary glands situated beneath the mandible MP:0013301 abnormal pancreas iron level anomaly in the amount of iron present in the pancreas tissue MP:0013302 increased pancreas iron level increase in the amount of iron present in the pancreas tissue MP:0013303 decreased pancreas iron level reduction in the amount of iron present in the pancreas tissue MP:0013304 osteophytes bony projections that form along joint margins at bone edges, including the spine; these are frequently found in areas affected by arthritis such as the disc or joint spaces where cartilage has deteriorated MP:0013305 isosthenuria inability of the kidneys to produce either a concentrated or a dilute urine; refers to a state in chronic renal disease in which the kidney cannot form urine with a higher or a lower specific gravity (concentration) than that of protein-free plasma; the specific gravity of the urine becomes fixed, irrespective of the fluid intake MP:0013306 abnormal tela choroidea morphology any structural anomaly of that portion of the brain pia mater that covers the ependymal roof or, in the case of the lateral ventricle, medial wall of a cerebral ventricle; vascularized tela choroidea is choroid plexus MP:0013307 increased adrenal gland weight greater average weight of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla MP:0013308 decreased adrenal gland weight reduced average weight of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla MP:0013309 adrenal gland cyst presence of one or more fluid-filled, usually benign growths, in the adrenal gland MP:0013310 abnormal adrenal gland development aberrant formation or incomplete differentiation of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla MP:0013311 abnormal ovary capsule morphology any structural anomaly of the tough, fibrous capsule surrounding each ovary MP:0013312 absent ovary capsule missing the tough, fibrous capsule surrounding each ovary MP:0013313 female preputial gland hypoplasia decrease in the number of normal cells in normal arrangement in the female preputial gland, typically resulting in decreased size MP:0013314 abnormal eumelanosome morphology any structural anomaly of the elliptical-shaped pigment organelles that synthesize and store eumelanin (black/brown) pigment, which is deposited in smooth laminated fibrils of mature eumelanosomes MP:0013315 abnormal pheomelanosome morphology any structural anomaly of the oval-shaped pigment organelles that synthesize and store pheomelanin (yellow) pigment, which is deposited in dense granular deposits within pheomelanosomes MP:0013316 abnormal pheomelanosome pheomelanin content anomaly in the amount or distribution of yellow pigment in the pheomelanosomes of melanocytes MP:0013317 abnormal seminal vesicle development aberrant or incomplete differentiation of either of the paired sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system; seminal vesicles develop from the segments of the Wolffian ducts immediately adjacent to the urogenital sinus MP:0013318 abnormal branching involved in seminal vesicle morphogenesis anomaly in the process in which the seminal vesicle is generated and organized in many mammals including mice and humans; in mice, the initial seminal vesicle buds form cane-shaped tubes off of the Wolffian ducts before birth; after birth, the initial tubes develop lateral branches that elongate and often undergo secondary branching morphogenesis; branching morphogenesis is largely complete by 2 weeks of age MP:0013319 seminal vesicle atrophy acquired size diminution of the seminal vesicles, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0013320 dilated seminal vesicle an expansion in the lumen volume of one or both of the paired sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system, as by stretching or distention MP:0013321 squamous metaplasia of seminal vesicles a benign non-cancerous transformation of the pseudostratified columnar epithelium lining the seminal vesicle(s) into stratified squamous epithelium; may occur in response to irritation or inflammation and involve keratinization MP:0013322 squamous metaplasia of prostate gland a benign non-cancerous transformation of the prostatic glandular epithelium into stratified squamous epithelium MP:0013323 abnormal ampullary gland morphology any structural anomaly of the paired accessory, glandular, androgen-dependent outpouchings of the proximal ductus deferens, one on each side, that produce and secrete lipids and glycogen, components of the seminal fluid; they open into the ampullae at the level of the colliculus seminalis, are lined by simple columnar epithelium with large, oval nuclei, and may be distinguished from those of the prostate as they are surrounded by a characteristic, dense, fibromuscular stroma; the epithelium forms longitudinal folds and the glands contain homogeneous, dense, eosinophilic secretions with characteristic holes that impart a Swiss cheese-like appearance MP:0013324 abnormal female reproductive gland morphology any structural anomaly of any sex gland that is part of the female reproductive system MP:0013325 abnormal male reproductive gland morphology any structural anomaly of any sex gland that is part of the male reproductive system MP:0013326 abnormal female reproductive gland physiology any functional anomaly of any sex gland that is part of the female reproductive system MP:0013327 abnormal male reproductive gland physiology any functional anomaly of any sex gland that is part of the male reproductive system MP:0013328 visceromegaly abnormal enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas MP:0013329 abnormal preputial gland morphology any structural anomaly of the paired, lobulated, modified sebaceous glands located in the inguinal region adjacent to the penis and vagina, with pheromonal functions in male rodents; in males, the preputial gland empties into the preputial cavity and in females, the preputial (aka clitoral) gland duct empties into the clitoral fossa MP:0013330 abnormal male accessory sex gland morphology any structural anomaly of any gland, other than the gonad, associated with the genital tract, such as the ampulla of the ductus deferens and the bulbourethral, prostate and seminal vesicles of the male MP:0013331 abnormal lacrimal gland development aberrant formation or incomplete differentiation of the paired almond-shaped glands, one for each eye, that secrete the aqueous layer of the tear film; each lacrimal gland develops through branching morphogenesis regulated by FGF signaling; at E12.5, the conjunctival epithelium at the temporal side of the mouse eyes invades the Fgf10-expressing mesenchyme to form the initial lacrimal gland bud; the bud elongates posteriorly until E15.5 when secondary branching begins to establish the complex tubuloalveolar structure; this eventually gives rise to the mature lacrimal gland composed of numerous ducts, acini and connective tissue MP:0013332 peliosis presence of multiple cyst-like blood-filled lakes or cavities that lack endothelial linings within parenchymatous organs, typically found in the liver, spleen, bone marrow and lymph nodes; also described in other organs such as lungs, kidneys, parathyroids and pancreas MP:0013333 pituitary gland peliosis presence of cyst-like blood-filled lakes or cavities (extravasated erythrocytes not contained in capillaries) within the pituitary gland; commonly found in hyperplastic and adenomatous pituitary glands MP:0013334 adenohypophysis peliosis presence of cyst-like blood-filled lakes or cavities (extravasated erythrocytes not contained in capillaries) within the anterior lobe of the pituitary gland MP:0013335 hepatic peliosis presence of cyst-like blood-filled lakes or cavities that lack endothelial linings in the liver parenchyma MP:0013336 pituitary gland hypertrophy increase in the bulk size of the pituitary gland due to cell enlargement MP:0013337 abnormal adenohypophysis development aberrant formation or incomplete differentiation of the anterior lobe of the pituitary gland which arises as a pouch-like outgrowth of ectoderm known as the hypophyseal (Rathke's) pouch from the dorsal midline roof of the stomodeum (primitive oral cavity); the hypophyseal pouch grows toward the brain and the neurohypophyseal bud; as the hypophyseal pouch and the infundibulum make contact, the hypophyseal pouch loses its connection with the pharynx, creating a hollow ball of cells that lies inferior to the floor of the diencephalon posterior to the optic chiasm; these cells undergo division, the central chamber gradually disappears, and this endocrine mass becomes the anterior pituitary gland; the fully developed adenohypophysis consists of a glandular pars distalis, a thin proximal extension called the pars tuberalis, and a narrow pars intermedia MP:0013338 abnormal neurohypophysis development aberrant formation or incomplete differentiation of the posterior lobe of the pituitary gland which develops as a neurohypophyseal bud, a depression in the neuroectoderm of the floor of the hypothalamus; the infundibulum, another diverticulum from the inferior aspect of the diencephalon, develops as an outgrowth of the neurohypophyseal bud and connects the neurohypophysis to the hypothalamus; the neurohypophysis develops as the infundibulum grows inferiorly from the diencephalon to meet the developing adenohypophysis (anterior pituitary lobe); the fully developed neurohypophysis consists of the infundibulum and the pars nervosa; the neural connection between the hypothalamus and pars nervosa is through the hypothalamohypophyseal tract that develops within the infundibulum MP:0013339 abnormal neurohypophyseal bud morphology any structural anomaly of the outgrowth of neuroectoderm located on the floor of the embryonic hypothalamus that gives rise to the neurohypophysis (posterior lobe) of the pituitary gland MP:0013340 abnormal pituicyte morphology any structural anomaly of the distinctive fusiform cells present in the pars nervosa of the posterior pituitary gland which resemble astrocytes/glial cells of the CNS and assist in the storage and release of neurohypophysial hormones MP:0013341 abnormal folliculo-stellate cell morphology any structural anomaly of the star-shaped and follicle-forming cells in the anterior pituitary gland that stain positive for S-100 protein (a marker for FS-cells); ascribed functions include the formation of an extensive and complex tridimentional network, scavenger activity by engulfing degenerated cells, paracrine regulation of endocrine cells by producing various growth factors and cytokines, such as interleukin-6, leukemia inhibitory factor, basic fibroblastic growth factor, vascular endothelial cell growth factor and follistatin, and large-scale inter-cellular communication by means of their long cytoplasmic processes and gap junctions MP:0013342 bifurcated Rathke's pouch the appearance of an abnormal division in the diverticulum arsing from the embryonic buccal cavity from which the anterior lobe of the pituitary gland is developed MP:0013343 abnormal pituitary gland apoptosis change in the timing or the number of any pituitary gland cells undergoing programmed cell death MP:0013344 increased pituitary gland apoptosis increase in the number of any cells of the pituitary gland undergoing programmed cell death MP:0013345 decreased pituitary gland apoptosis decrease in the number of any cells of the pituitary gland undergoing programmed cell death MP:0013346 increased melanotroph apoptosis increase in the number of cells of the intermediate pituitary that produce melanocyte stimulating hormone and other peptides from the post-translational processing of pro-opiomelanocortin (POMC) undergoing programmed cell death MP:0013347 increased corticotroph apoptosis increase in the number of anterior pituitary ACTH-producing basophilic cells undergoing programmed cell death MP:0013348 adenohypophysis hyperplasia increase in the number of normal cells in normal arrangement in the adenohypophysis, typically resulting in increased size MP:0013349 small Rathke's pouch reduced size of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland MP:0013350 Rathke's pouch hypoplasia decrease in the number of normal cells in normal arrangement in the Rathke's pouch, typically resulting in decreased size MP:0013351 abnormal Rathke's pouch development any anomaly in the formation of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland MP:0013352 abnormal Rathke's pouch apoptosis any change in the timing or number of Rathke's pouch cells undergoing programmed cell death MP:0013353 Rathke cleft cyst presence of one or more intrasellar or suprasellar cysts lined by cuboidal epithelium derived from remnants of the Rathke pouch MP:0013354 increased Rathke pouch tumor incidence a suprasellar neoplasm, usually cystic, that develops from the nests of epithelium derived from Rathke pouch MP:0013355 adenohypophysis hypertrophy increase in the bulk size of the anterior lobe of the pituitary gland due to cell enlargement MP:0013356 ectopic pituitary gland a pituitary gland located outside of its normal position MP:0013357 ectopic adenohypophysis an anterior pituitary gland located outside of its normal position due to arrest of migration from a pharyngeocranial location to the sellar region; a portion or all of the adenohypophysis may persist in the pathway of the pharyngeal pouch, either in the nasopharyngeal wall or within the sphenoid bone MP:0013358 ectopic neurohypophysis a posterior pituitary gland displaced distally in the infundibulum (pituitary stalk) due to defective neuronal migration during embryogenesis, tumors, trauma, or surgical transection of the pituitary stalk; may present with an empty pituitary fossa, hypoplasia or absence of the infundibular stalk and resultant short stature due to growth hormone deficiency; the location of the ectopic lobe can vary, but it is most commonly located along the median eminence in the floor of the third ventricle MP:0013359 abnormal pinealocyte morphology any structural anomaly of the principal cell of the pineal gland, characterized by two or more long cell processes ending in bulbous expansions that terminate in perivascular spaces surrounding capillaries; pinealocytes are secretory cells organized into cords and clusters resting on a basal lamina and surrounded by connective tissue, blood vessels lined by fenestrated endothelial cells, and nerves; their cytoplasm contains abundant mitochondria and multiple synaptic ribbons that are randomly distributed; the primary function of the pinealocytes is the secretion of melatonin; pinealocytes receive a direct innervation from sympathetic neurons that form recognizable synapses MP:0013360 abnormal pineal recess morphology any structural anomaly of the diverticulum of the thin roof of the dorsocaudal third ventricle that projects into the stalk of the pineal gland MP:0013361 absent pineal recess absence of the diverticulum of the thin roof of the dorsocaudal third ventricle that projects into the stalk of the pineal gland MP:0013362 absent pineal gland absence of the unpaired epithalamic structure that is shaped like a tiny pine cone and located above the posterior commissure near the level of the habenular complex and the sylvian aqueduct; the pineal is both a circumventricular organ and an endocrine organ that secretes melatonin, a serotonin-derived hormone involved in the regulation of circadian rhythms MP:0013363 abnormal pineal gland development aberrant formation or incomplete differentiation of the pineal gland which normally develops from a saccular outpocketing of the posterior diencephalic roof in the midline of the third ventricle; continued diverticulation and infolding result in a solid parenchymal mass of cords and clusters of pinealocytes and glial-like interstitial cells supported by a meninges-derived connective tissue that carries blood vessels and nerves to the pineal gland MP:0013364 enlarged pineal gland increased size of the unpaired epithalamic structure that is shaped like a tiny pine cone and located above the posterior commissure near the level of the habenular complex and the sylvian aqueduct; the pineal is both a circumventricular organ and an endocrine organ that secretes melatonin, a serotonin-derived hormone involved in the regulation of circadian rhythms MP:0013365 increased pineal gland tumor incidence greater than the expected number of neoplams in the pineal gland occurring in a specific population in a given time period MP:0013366 adrenal gland atrophy acquired diminution of the size of the pair of endocrine glands located above the kidney and responsible for steroid hormone secretion from the cortex and neurotransmitter secretion from the medulla, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0013367 parotid gland inflammation local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear MP:0013368 abnormal sweat gland physiology any functional anomaly of the coiled tubular glands of the skin that secrete sweat MP:0013369 abnormal sweat gland secretion altered ability of the coiled tubular glands of the skin to produce or secrete sweat in response to appropriate stimuli MP:0013370 anhidrosis complete absence of sweating in response to appropriate stimuli MP:0013371 hypohidrosis decreased sweating in response to appropriate stimuli MP:0013372 hyperhidrosis abnormally increased sweating in response to appropriate stimuli MP:0013373 increased sebum secretion increased production and/or release of the lipid-rich substance that is produced by the sebaceous glands, acts to lubricate and waterproof the skin and hair of mammals, and provides antibacterial activity; sebum is released by disintegrating sebocytes that are continuously replaced from progenitors in the periphery of the sebaceous gland; its composition varies across species MP:0013374 increased sebaceous gland tumor incidence greater than the expected number of neoplams in the sebaceous gland occurring in a specific population in a given time period MP:0013375 abnormal sebocyte morphology any structural anomaly of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation (holocrine secretion); these cells are most commonly found in the skin in association with hair follicles (forming the pilosebaceous unit), where they arise from hair follicle keratinocytes, but there are also sebaceous glands not associated with a hair follicle; the latter have special functions as secretion of pheromones or corneal protection MP:0013376 abnormal sebocyte differentiation abnormal formation or arrest of differentiation of the sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation; these cells are most commonly found in the skin in association with hair follicles (forming the pilosebaceous unit), where they arise from hair follicle keratinocytes, but there are also sebaceous glands not associated with a hair follicle; the latter have special functions as secretion of pheromones or corneal protection; sebocyte differentiation is defined by increasing accumulation of lipid droplets, the major component of sebum MP:0013377 abnormal sebocyte number any deviation from the normal numbers of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation MP:0013378 increased sebocyte number greater than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation MP:0013379 decreased sebocyte cell number fewer than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation MP:0013380 absent sebocyte failure of formation or loss of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation MP:0013381 abnormal perianal sebaceous gland morphology any structural anomaly of the modified holocrine gland that is part of the pilosebaceous unit of a hair located in the area around the anus; each of the specialized large hair follicles that surround and form a network around the anus has a pair of large sebaceous glands that empty into the follicle; perianal glands may function as scent glands MP:0013382 small perianal sebaceous gland decreased size of the modified holocrine gland that is part of the pilosebaceous unit of a hair located in the area around the anus; each of the specialized large hair follicles that surround and form a network around the anus has a pair of large sebaceous glands that empty into the follicle; perianal glands may function as scent glands MP:0013383 increased sebaceous gland adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any sebaceous gland, occurring in a specific population in a given time period MP:0013384 abnormal Zymbal's gland morphology any structural anomaly of either of the paired multilobulated modified auditory sebaceous glands located anterior and ventral to the exterior ear canal in rodents; each gland consists of acinar sebaceous cells and excretory ducts lined by stratified squamous epithelium; the ducts of Zymbal's gland empty into the external ear canal MP:0013385 abnormal Meibomian gland development aberrant formation or incomplete differentiation of the sebaceous glands located at the rim of the eyelids inside the tarsal plate and responsible for the supply of meibum, an oily substance that prevents evaporation of the eye's tear film; in mice, meibomian gland development is initiated around E18.5 with the formation of an epithelial placode and mesenchymal condensation, similar to that observed in hair follicle development; invagination of the epithelium into the developing mesenchyme then continues from birth to about P3 with initial branching of the epithelial cord detected at P5; by P8 the developing meibomian gland shows extensive ductal branching and the formation of distinct acini with mature meibomian glands present by P15 or eyelid opening MP:0013386 enlarged Meibomian gland increased size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate MP:0013387 Meibomian gland hypertrophy increase in the bulk size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate due to cell enlargement MP:0013388 small Meibomian gland decreased size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate MP:0013389 Meibomian gland hypoplasia decrease in the number of normal cells in normal arrangement in the Meibomian gland, typically resulting in decreased size MP:0013390 Meibomian gland cyst presence of one or more non-malignant fluid-filled cysts in the eyelid area due to non-infectious obstruction or malfunctioning of a Meibomian gland causing extravasation of lipid material in the eyelid soft tissues with focal secondary granulomatous inflammation MP:0013391 abnormal Meibomian gland physiology any functional anomaly of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate; dysfunctional Meibomian glands may produce an excessive amount of oil, cause dry eyes, or contribute to blepharitis MP:0013392 Meibomian gland inflammation local accumulation of fluid, plasma proteins, and leukocytes in the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate; chronic Meibomian gland inflammation can lead to a lump in the eyelid known as a Meibomian gland cyst (aka chalazion) MP:0013393 symblepharon partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball MP:0013394 abnormal palpebral conjunctiva morphology any structural anomaly of the thin transparent mucous membrane that covers the posterior surface of the eyelids and is continuous with the bulbar conjunctiva at the conjunctival fornicies MP:0013395 eyelid hypoplasia decrease in the number of normal cells in normal arrangement in the eyelid, typically resulting in decreased size MP:0013396 eyelid hyperplasia increase in the number of normal cells in normal arrangement in the eyeball, typically resulting in increased size MP:0013397 abnormal Zeis gland morphology any structural anomaly of the unilobar sebaceous glands located on the margin of the eyelid that service the eyelash; these glands produce an oily substance that is issued through the excretory ducts of the sebaceous lobule into the middle portion of the hair follicle MP:0013398 uterus fibrosis invasion of fibrous connective tissue into the uterus, often resulting from inflammation or injury MP:0013399 endometrium fibrosis invasion of fibrous connective tissue into the endometrium, often resulting from inflammation or injury MP:0013400 abnormal endometrial gland development aberrant formation or incomplete differentiation of the simple or branched tubular glands found in the mucus membrane of the uterus MP:0013401 increased endometrial gland number greater than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus MP:0013402 abnormal bulbar conjunctiva morphology any structural anomaly of the conjunctiva covering the anterior surface of the sclera and the surface epithelium of the cornea MP:0013403 abnormal circulating lactate level any anomaly of the amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase MP:0013404 decreased circulating lactate level reduced amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase MP:0013405 increased circulating lactate level greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase MP:0013406 abnormal epidermal immune compartment any anomaly in the constitution or organization of the immune cells residing in the skin epidermal layer MP:0013407 abnormal dendritic epidermal T cell morphology any structural anomaly of T cells with dendritic appearance residing in the skin epidermis, usually expressing a canonical gamma-delta T cell receptor and is involved in the regulation of wound healing MP:0013408 abnormal dendritic epidermal T cell number anomaly in the number of T cells with dendritic appearance residing in the skin epidermis, usually expressing a canonical gamma-delta T cell receptor and is involved in the regulation of wound healing MP:0013409 increased dendritic epidermal T cell number increase in the number of T cells with dendritic appearance residing in the skin epidermis, usually expressing a canonical gamma-delta T cell receptor and is involved in the regulation of wound healing MP:0013410 decreased dendritic epidermal T cell number reduction in the number of T cells with dendritic appearance residing in the skin epidermis, usually expressing a canonical gamma-delta T cell receptor and is involved in the regulation of wound healing MP:0013411 abnormal Langerhans cell number anomaly in the number of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus MP:0013412 increased Langerhans cell number increase in the number of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus MP:0013413 abnormal myeloid cell number in bone marrow any anomaly in the number of CD45+ CD11b+ GR1- myeloid cells in the bone marrow MP:0013414 decreased myeloid cell number in bone marrow reduction in the number of CD45+ CD11b+ GR1- myeloid cells in the bone marrow MP:0013415 increased myeloid cell number in bone marrow increase in the number of CD45+ CD11b+ GR1- myeloid cells in the bone marrow MP:0013416 abnormal memory-marker gamma-delta T cell number anomaly in the number of memory-marker gamma-delta T cells with a CD44+ CD62L- phenotype MP:0013417 decreased memory-marker gamma-delta T cell number reduction in the number of memory-marker gamma-delta T cells with a CD44+ CD62L- phenotype MP:0013418 increased memory-marker gamma-delta T cell number increase in the number of memory-marker gamma-delta T cells with a CD44+ CD62L- phenotype MP:0013419 abnormal CD5-positive gamma-delta T cell number anomaly in the number of CD5+ gamma-delta T cells MP:0013420 decreased CD5-positive gamma-delta T cell number reduction in the number of CD5+ gamma-delta T cells MP:0013421 increased CD5-positive gamma-delta T cell number increase in the number of CD5+ gamma-delta T cells MP:0013422 abnormal KLRG1-positive gamma-delta T cell number anomaly in the number of gamma-delta T cells positive for KLRG1, a marker associated with activation MP:0013423 decreased KLRG1-positive gamma-delta T cell number reduction in the number of gamma-delta T cells positive for KLRG1, a marker associated with activation MP:0013424 increased KLRG1-positive gamma-delta T cell number increase in the number of gamma-delta T cells positive for KLRG1, a marker associated with activation MP:0013425 abnormal memory-marker NK cell number anomaly in the number of memory-marker NK cells with a CD44+ CD62L- phenotype MP:0013426 decreased memory-marker NK cell number reduction in the number of memory-marker NK cells with a CD44+ CD62L- phenotype MP:0013427 increased memory-marker NK cell number increase in the number of memory-marker NK cells with a CD44+ CD62L- phenotype MP:0013428 abnormal memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number anomaly in the number of the CD4+, CD25+ alpha-beta regulatory T cells with a CD44+ CD62L- memory phenotype MP:0013429 decreased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number reduction in the number of the CD4+, CD25+ alpha-beta regulatory T cells with a CD44+ CD62L- memory phenotype MP:0013430 increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number increase in the number of the CD4+, CD25+ alpha-beta regulatory T cells with a CD44+ CD62L- memory phenotype MP:0013431 abnormal KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number anomaly in the number of KLRG1+ CD4+, CD25+, alpha-beta regulatory T cell number positive for KLRG1, a marker associated with activation MP:0013432 decreased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number reduction in the number of KLRG1+ CD4+, CD25+, alpha-beta regulatory T cell number positive for KLRG1, a marker associated with activation MP:0013433 increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number increase in the number of KLRG1+ CD4+, CD25+, alpha-beta regulatory T cell number positive for KLRG1, a marker associated with activation MP:0013434 abnormal CD8-positive, naive alpha-beta T cell number anomaly in the number of the na ve regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions with a CD44-low CD62L+ phenotype MP:0013435 decreased CD8-positive, naive alpha-beta T cell number reduction in the number of the na ve regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions with a CD44-low CD62L+ phenotype MP:0013436 increased CD8-positive, naive alpha-beta T cell number increase in the number of the na ve regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions with a CD44-low CD62L+ phenotype MP:0013437 decreased phytosterol level decreased amount of plant sterols often as a result of hyperabsorbtion of phytosterols and decreased biliary excretion of dietary sterols; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol MP:0013438 dysmyelination reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin MP:0013439 abnormal Harderian gland development aberrant formation or incomplete differentiation of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane; in rodents, the Harderian gland originates from the nasal part of the conjunctival epithelium at E16 and forms a branched structure behind the eyeball; in contrast to the acinar morphology of the lacrimal gland, the Harderian gland has a tubulo-alveolar organization and is composed exclusively of one type of secretory cell; in primates, the HG is either absent or vestigial MP:0013440 abnormal exorbital lacrimal gland morphology any structural anomaly of the large exorbital (extra-orbital) lacrimal glands that are located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland MP:0013441 abnormal intraorbital lacrimal gland morphology any structural anomaly of the small intra-orbital lacrimal glands that are located superficially at the lateral canthus, where both the lacrimal gland and Harderian gland ducts open MP:0013442 abnormal Harderian gland size anomaly in the average size of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane MP:0013443 Harderian gland hyperplasia increase in the number of normal cells in normal arrangement in the Harderian gland, typically resulting in increased size MP:0013444 Harderian gland hypoplasia decrease in the number of normal cells in normal arrangement in the Harderian gland, typically resulting in decreased size MP:0013445 Harderian gland atrophy acquired diminution of the size of the sebaceous gland that is located behind the eyeball and excretes fluid that facilitates movement of the nictitating membrane, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0013446 enlarged Harderian gland increased size of the sebaceous gland that is located behind the eyeball and excretes fluid that facilitates movement of the nictitating membrane MP:0013447 Harderian gland hypertrophy increase in the bulk size, due to cell enlargement, of the sebaceous gland that is located behind the eyeball and excretes fluid that facilitates movement of the nictitating membrane MP:0013448 small Harderian gland decreased size of the sebaceous gland that is located behind the eyeball and excretes fluid that facilitates movement of the nictitating membrane MP:0013449 abnormal lacrimal lake morphology any structural anomaly of the small cistern-like area of the conjunctiva at the medial angle of the eye, in which the tears collect after bathing the front surface of the eyeball and the conjunctival sac MP:0013450 abnormal lacrimal apparatus physiology any functional anomaly of the network of orbital structures of the eye that secrete and drain tears from the surface of the eyeball into the nasal cavity; these parts include the lacrimal glands, lacrimal lake, lacrimal ducts, lacrimal canals, lacrimal sacs, nasolacrimal ducts, and lacrimal puncta MP:0013451 nasolacrimal duct obstruction any impediment or blockage of the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity; may be either congenital or acquired; obstruction of the nasolacrimal duct leads to the excess overflow of tears called epiphora MP:0013452 increased lacrimal gland apoptosis increase in the number of cells of the lacrimal gland undergoing programmed cell death MP:0013453 enlarged lacrimal gland increased size of any of the paired glands that secrete the aqueous layer of the tear film MP:0013454 lacrimal gland hypertrophy increase in the bulk size of any of the paired glands that secrete the aqueous layer of the tear film due to cell enlargement MP:0013455 lacrimal gland atrophy acquired diminution of the size of any of the paired glands that secrete the aqueous layer of the tear film, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0013456 abnormal eccrine gland number aberration in the number of the coiled tubular glands normally situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans; in mice these are the only sweat glands present MP:0013457 increased eccrine gland number greater than normal numbers of the coiled tubular glands situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans; in mice these are the only sweat glands present MP:0013458 decreased eccrine gland number fewer than normal numbers of the coiled tubular glands situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans; in mice these are the only sweat glands present MP:0013459 perioral dermatitis an inflammatory skin condition characterized by multiple small papules, pustules and vesicles localized to the perioral skin (around the mouth), perinasal or nasolabial folds (around the nostrils), or periocular area (around the eyes) MP:0013460 periocular dermatitis inflammation of the skin on the eyelids and around the eyes; a variant of perioral dermatitis MP:0013461 abnormal conjunctiva fornix morphology any structural anomaly of the space formed by the junction of the bulbar and palpebral portions of the conjunctiva, that of the upper lid being the superior conjunctival fornix (fornix conjunctivae superior) and that of the lower lid, the inferior conjunctival fornix (fornix conjunctivae inferior); the fornix is loose and flexible, allowing the free movement of the lids and eyeball MP:0013462 abnormal conjunctiva goblet cell number aberration in the number of the mucin-secreting cells found on the conjunctival epithelium; changes in goblet cell numbers are associated with alterations in tear mucin level MP:0013463 increased conjunctiva goblet cell number greater than normal numbers of the mucin-secreting cells found on the conjunctival epithelium MP:0013464 decreased conjunctiva goblet cell number fewer than normal numbers of the mucin-secreting cells found on the conjunctival epithelium; goblet cell loss has been reported in several inflammatory diseases of the ocular surface, including Stevens-Johnson syndrome, ocular mucous membrane pemphigoid, alkali burn, neutrophilic keratitis, graft-versus-host-disease, and Sjogrens's syndrome MP:0013465 abnormal conjunctiva goblet cell differentiation abnormal or arrested formation of the mucin-secreting cells of the conjunctival epithelium from conjunctival precursor/stem cells; in mice, mucin-rich goblet cells normally emerge from the conjunctival epithelium around P7-P9, increase in number and form goblet cell clusters between the second and third week of postnatal development MP:0013466 keratoconjunctivitis sicca inflammation of the cornea and conjuctiva caused by eye dryness which, in turn, is caused by either decreased tear production or increased tear film evaporation MP:0013467 diaphragmitis inflammation of the diaphragm MP:0013468 chromodacryorrhea shedding of red or blood-stained tears due to continuous or excessive secretion of porphyrin from the Harderian gland; as these secretions overflow from the eye and drain through the nasal passages to exit the nares dark rust-colored staining, or crust, can be seen around the eyes and nostrils; these secretions may be transferred to the paws and muzzle during grooming; red tears may be associated with nutritional deficiencies, chronic physiological stress, chronic light exposure, or dacryoadenitis MP:0013469 abnormal lacrimal gland bud morphology any structural anomaly of the single bud-like invagination of the conjunctival fornix epithelium at the temporal aspect of the eye that signals lacrimal gland formation; in mouse, the primary bud arises around E13.5 and extends caudally into the surrounding neural-crest derived periocular mesenchyme; between E15.5 and E16.5 the bud undergoes branching morphogenesis, forming both a major extra-orbital lobe and a minor intraorbital lobe MP:0013470 absent lacrimal gland bud absence of the single bud-like invagination of the conjunctival fornix epithelium at the temporal aspect of the eye that signals lacrimal gland formation; in mouse, the primary bud arises around E13.5 and extends caudally into the surrounding neural-crest derived periocular mesenchyme at E14.5 MP:0013471 small lacrimal gland bud reduced size of the single bud-like invagination of the conjunctival fornix epithelium at the temporal aspect of the eye that signals lacrimal gland formation; in mouse, the primary bud arises around E13.5 and extends caudally into the surrounding neural-crest derived periocular mesenchyme at E14.5; following elongation, the bud invades the mesenchymal sac at E16.5 and begins a period of rapid growth and branching to form prospective lobular structures: the intra- and ex-orbital lobes MP:0013472 abnormal lacrimal gland bud elongation anomaly in the process by which the primary lacrimal bud extends caudally into the surrounding neural-crest derived periocular mesenchyme; in mice, the primary bud formed at E13.5 elongates at E14.5; following elongation, the bud invades the mesenchymal sac at E16.5 and begins a period of rapid growth and branching to form prospective lobular structures: the intra- and ex-orbital lobes MP:0013473 ectopic lacrimal gland bud lacrimal gland bud(s) are located other than in the normal or expected position MP:0013474 abnormal lacrimal gland branching morphogenesis anomaly of the lacrimal gland bud to repeatedly divide into lobules during development of the lacrimal gland; in mouse, the primary bud arises around E13.5 and extends caudally into the surrounding neural-crest derived periocular mesenchyme; branching is initiated between E15.5 and E16.5 from the tip of the lacrimal bud; by E18.5, the gland consists of an extensively branched exorbital lobe and a small intraocular lobe derived from a single branch of the proximal duct; branching and differentiation of lacrimal glands is complete by around eyelid opening MP:0013475 delayed reproductive senescence loss of reproductive capacity occurring at a later than expected age; often accompanied by inability to carry offspring to term MP:0013476 abnormal Harderian gland porphyrin secretion anomaly in the production and/or release of porphyrin(s), the pigment(s) responsible for the red discoloration of ocular and/or nasal discharges in rodents; in rats, protoporhyrin IX accounts for most of the porphyrin produced and stored in the Harderian gland; in some rodents the concentration of porphyrins in the Harderian glands varies according to gender and species, and tends to be higher in females than in males MP:0013477 abnormal cornea limbus morphology any structural anomaly of the edge of the cornea where it joins the sclera; the limbus is a common site for the occurrence of corneal epithelial neoplasm MP:0013478 corneal limbitis inflammation of the corneal limbus MP:0013479 scleritis inflammation of the sclera, the tough white outer coat of the eyeball; may impair vision and occur in association with systemic collagen diseases such as rheumatoid arthritis, Wegener's granulomatosis and, less often, lupus MP:0013480 cyclitis inflammation of the ciliary body of the eye MP:0013481 abnormal ileum crypts of Lieberkuhn morphology any structural anomaly of the intestinal crypts located in the mucosa of the ileum, the portion of the small intestine that extends from the jejunum to the colon MP:0013482 abnormal duodenum crypts of Lieberkuhn morphology any structural anomaly of the intestinal crypts located in the mucosa of the duodenum, the first division of the small intestine that extends from the pyloris to the junction with the jejunum MP:0013483 abnormal jejunum crypts of Lieberkuhn morphology any structural anomaly of the intestinal crypts located in the mucosa of the jejunum, the portion of the small intestine that extends from the duodenum to the ileum MP:0013484 abnormal Paneth cell number anomaly in the number of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine MP:0013485 increased Paneth cell number greater than normal numbers of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine MP:0013486 decreased Paneth cell number fewer than normal numbers of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine MP:0013487 abnormal Paneth cell physiology any functional anomaly of the large secretory cells found at the base of the crypts of Lieberkuhn in the small intestine; Paneth cells contribute to the mucosal defense mechanism through the secretion of granules filled with antimicrobial (poly)peptides such as lysozyme, phospholipase A2, and defensins (called cryptdins in mice); Paneth cells secrete factors that help sustain and modulate the epithelial stem and progenitor cells that cohabitate in the crypts of Lieberkuhn and rejuvenate the small intestinal epithelium; dysfunction of Paneth cell biology contributes to the pathogenesis of chronic inflammatory bowel disease MP:0013488 increased keratoacanthoma incidence greater than the expected number of low-grade skin tumors that originate in the pilosebaceous glands and closely resemble squamous cell carcinoma, occurring in a specific population in a given time period; keratoacanthomas are spontaneously regressing growths that rarely develop into invasive or metastatic carcinoma; in rare instances, multiple keratoacanthomas are associated with a disease process called Muir-Torre syndrome MP:0013489 abnormal infundibular recess of third ventricle morphology any structural anomaly of the funnel-shaped diverticulum that extends downward from the anterior aspect of the floor of the third ventricle into the infundibulum of the hypophysis; the embryonic structure gives rise the neural component of the pituitary (pas nervosa) MP:0013490 absent infundibular recess of third ventricle absence of the funnel-shaped diverticulum that normally extends downward from the anterior aspect of the floor of the third ventricle into the infundibulum of the hypophysis; the embryonic structure gives rise the neural component of the pituitary (pas nervosa) MP:0013491 abnormal Herring body morphology any structural anomaly of the dilated terminal portions of neurosecretory axons constituting the hypothalamohypophyseal tract, found in close proximity to sinusoidal capillaries in the posterior pituitary; Herring bodies consist of aggregates of membrane-bound neurosecretory vesicles where oxytocin or antidiuretic hormone (ADH) are stored prior to release; each Herring body also contains ATP and either neurophysin I or neurophysin II which bind to oxytocin and ADH, respectively MP:0013492 oral erythroplakia any lesion of the oral mucosa that presents as bright red plaques or macules with a soft and velvety texture and well-demarcated borders, commonly found in the floor of the mouth, buccal vestibule, the tongue, and the soft palate; an adjacent area of leukoplakia may be found along with the erythroplakia; although erythroplakia is much less common than leukoplakia, erythroplakia carries a significantly higher risk containing dysplasia or carcinoma in situ, and of eventually transforming into invasive squamous cell carcinoma (e.g. oral cancer) MP:0013493 abnormal trachea submucosa morphology any structural anomaly of the loose fibrous connective tissue located under the tracheal mucosa and composed of abundant blood and lymphatic vessels, diffuse lymphatic tissue and lymphatic nodules, and seromucous tracheal glands; the submucosa ends with the perichondrium of the tracheal cartilages MP:0013494 abnormal trachea gland morphology any structural anomaly of the tubuloacinar seromucous glands located principally in the submucosa of the trachea whose excretory ducts pass through the lamina propria to the tracheal lumen; they secrete mucus, lysozyme, defensins, and other agents that help protect the lungs from particles and infectious agents; in the mouse, they are restricted to the upper trachea, more specifically to the regions between the first few cartilage rings, with the precise distribution depending on genetic background MP:0013495 decreased trachea gland number fewer than normal numbers of the tubuloacinar seromucous glands which are principally located in the submucosa of the trachea, open into the tracheal lumen through short ducts, and secrete mucus, lysozyme, defensins, and other agents that help protect the lungs from particles and infectious agents; in the mouse, they are restricted to the upper trachea, more specifically to the regions between the first few cartilage rings, with the precise distribution depending on genetic background MP:0013496 abnormal trachea development aberrant formation or incomplete differentiation of the tube descending from the larynx and branching into the right and left main bronchi MP:0013497 trachea occlusion any impediment or blockage of the tube descending from the larynx and branching into the right and left main bronchi MP:0013498 trachea inflammation local accumulation of fluid, plasma proteins, and leukocytes in the trachea MP:0013499 trachea fibrosis invasion of fibrous connective tissue into the trachea, often resulting from inflammation or injury MP:0013500 abnormal fibroblast apoptosis change in the timing or the number of fibroblast cells undergoing programmed cell death MP:0013501 increased fibroblast apoptosis increase in the timing or the number of fibroblast cells undergoing programmed cell death MP:0013502 decreased fibroblast apoptosis reduction in the timing or the number of fibroblast cells undergoing programmed cell death MP:0013503 abnormal embryonic tissue cell apoptosis change in the timing or the number of cells in embryonic tissue undergoing programmed cell death MP:0013504 increased embryonic tissue cell apoptosis increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death MP:0013505 decreased embryonic tissue cell apoptosis decrease in the timing or the number of cells in embryonic tissue undergoing programmed cell death MP:0013506 abnormal ovary apoptosis change in the timing or the number of cells in ovary tissue undergoing programmed cell death MP:0013507 increased ovary apoptosis increase in the number of ovary cells undergoing programmed cell death MP:0013508 increased granulosa cell apoptosis increase in the timing or the number of granulsa cells undergoing programmed cell death MP:0013509 abnormal CD4-negative NK T cell number anomaly in the number of CD4-negative NK T cells MP:0013510 decreased CD4-negative NK T cell number reduction in the number of CD4-negative NK T cells MP:0013511 increased CD4-negative NK T cell number increase in the number of CD4-negative NK T cells MP:0013512 abnormal memory-marker CD4-negative NK T cell number anomaly in the number of memory-marker CD4-negative NK T cells with a CD44+ CD62L- phenotype MP:0013513 decreased memory-marker CD4-negative NK T cell number reduction in the number of memory-marker CD4-negative NK T cells with a CD44+ CD62L- phenotype MP:0013514 increased memory-marker CD4-negative NK T cell number increase in the number of memory-marker CD4-negative NK T cells with a CD44+ CD62L- phenotype MP:0013515 abnormal KLRG1-positive CD4-negative NK T cell number anomaly in the number of KLRG1-positive CD4-negative NK T cells, a marker associated with activation MP:0013516 decreased KLRG1-positive CD4-negative NK T cell number reduction in the number of KLRG1-positive CD4-negative NK T cells, a marker associated with activation MP:0013517 increased KLRG1-positive CD4-negative NK T cell number increase in the number of KLRG1-positive CD4-negative NK T cells, a marker associated with activation MP:0013518 abnormal CD4-positive NK T cell number anomaly in the number of CD4-positive NK T cells MP:0013519 decreased CD4-positive NK T cell number reduction in the number of CD4-positive NK T cells MP:0013520 increased CD4-positive NK T cell number increase in the number of CD4-positive NK T cells MP:0013521 abnormal memory-marker CD4-positive NK T cell number anomaly in the number of memory-marker CD4-positive NK T cells with a CD44+ CD62L- phenotype MP:0013522 decreased memory-marker CD4-positive NK T cell number reduction in the number of memory-marker CD4-positive NK T cells with a CD44+ CD62L- phenotype MP:0013523 increased memory-marker CD4-positive NK T cell number increase in the number of memory-marker CD4-positive NK T cells with a CD44+ CD62L- phenotype MP:0013524 abnormal KLRG1-positive CD4-positive NK T cell number anomaly in the number of KLRG1-positive CD4-positive NK T cells, a marker associated with activation MP:0013525 decreased KLRG1-positive CD4-positive NK T cell number reduction in the number of KLRG1-positive CD4-positive NK T cells, a marker associated with activation MP:0013526 increased KLRG1-positive CD4-positive NK T cell number increase in the number of KLRG1-positive CD4-positive NK T cells, a marker associated with activation MP:0013527 absent conjunctiva goblet cells absence or failure to develop the mucin-secreting cells of the conjunctival epithelium from conjunctival precursor/stem cells; in mice, mucin-rich goblet cells normally emerge from the conjunctival epithelium around P7-P9, increase in number and form goblet cell clusters between the second and third week of postnatal development MP:0013528 thyroid gland cyst presence of one or more fluid-filled cavities (cysts) in the thyroid commonly resulting from degenerating thyroid adenomas; thyroid cysts are usually benign, but they occasionally contain malignant solid components MP:0013529 decreased nipple number fewer than the expected number of structures located on the apex of the mammary gland on the integument surface into which the lactiferous ducts open; normal female mice have five pairs of mammary glands and nipples (males have no nipples); two pairs of nipples are situated in the abdomino-inguinal region (inguinal group) and three pairs in the ventral thoracic region (pectoral or thoracic group) MP:0013530 abnormal periderm morphology any structural anomaly of the outermost layer of the bilaminar embryonic/fetal epidermis, the first non-basal layer formed at approximately E9.5; it is a temporary structure composed of simple squamous epithelium that serves as the first barrier to the embryo's physical environment, exists throughout the entire keratinocyte stratification process, and sheds off at approximately E17, when it is replaced by corneocytes; desquamated peridermal cells are a considerable component of the vernix caseosa, a white, cheesy, protective substance that covers the fetal skin MP:0013531 abnormal periderm development abnormal formation of the outermost layer of the bilaminar embryonic/fetal epidermis; periderm cells emerge at approximately E9.5 and form simple squamous epithelium, the most superficial embryonic layer; these cells form the first, but temporary, embryonic permeability barrier, and are replaced by the cornified envelope, that forms during keratinocyte stratification, by E16.5 MP:0013532 abnormal parotid gland physiology any functional anomaly of either of the largest of the major salivary glands situated below and in front of each ear MP:0013533 sublingual gland inflammation local accumulation of fluid, plasma proteins, and leukocytes in either of the small mucin-producing salivary glands located in the floor of the mouth beneath the tongue, anterior to the submandibular gland MP:0013534 abnormal major salivary gland physiology any functional anomaly of the three largest glands of the oral cavity that secrete most of the saliva, including the parotid, submandibular, and sublingual glands MP:0013535 abnormal minor salivary gland physiology any functional anomaly of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands MP:0013536 abnormal sublingual gland physiology any functional anomaly of the small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland MP:0013537 increased salivary gland adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any salivary gland, occurring in a specific population in a given time period MP:0013538 increased Harderian gland adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the Harderian gland, occurring in a specific population in a given time period MP:0013539 increased ovary adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the ovary, occurring in a specific population in a given time period MP:0013540 increased submandibular gland apoptosis increase in the number of cells of the submandibular gland undergoing programmed cell death MP:0013541 abnormal submandibular gland development aberrant formation or incomplete differentiation of either of the paired compound tubuloalveolar (aka tubuloacinar) major salivary glands composed of both serous and mucous secretory cells and situated beneath the mandible; in mice, submandibular gland development initiates as a thickening of the oral epithelium; around E12 an initial (single) epithelial bud on a stalk grows into a condensing neural crest-derived mesenchyme; clefts in the epithelium result in 3-5 epithelial buds at E13.5, and branching morphogenesis occurs with continued proliferation, successive rounds of cleft formation, duct elongation, and duct lumen formation, so that by E14 the gland is highly branched (multi-lobed); functional differentiation, with the appearance of proacinar cells and secretory products begins after E15 and continues to birth; acinar differentiation continues postnatally with final differentiation of the granular convoluted tubules at puberty MP:0013542 abnormal submandibular gland branching morphogenesis anomaly in the process in which the branching structure of the submandibular gland is generated and organized MP:0013543 abnormal holocrine gland morphology any structural anomaly of any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen MP:0013544 abnormal merocrine gland morphology any structural anomaly of any exocrine gland whose secretions are excreted via exocytosis from secretory cells into an epithelial-walled duct or ducts and thence onto a bodily surface or into the lumen; the gland releases its product and no part of the gland is lost or damaged MP:0013545 cleft hard palate cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones MP:0013546 cleft soft palate a cleft in the soft tissue constituting the back of the roof of the mouth; the soft palate is the posterior portion of the palate extending from the posterior edge of the hard palate to the back of the mouth MP:0013547 submucous cleft soft palate a cleft of the soft palate which is characterized by a midline deficiency or lack of muscular tissue and incorrect positioning of the muscles, but cleft is covered over by the mucous membrane of the roof of the mouth; frequently associated with a bifid or cleft uvula MP:0013548 submucous cleft hard palate a cleft of the hard palate characterized by a bony defect in the midline or center of the bony part of the palate, but cleft is covered over by the mucous membrane of the roof of the mouth MP:0013549 abnormal primary palate morphology any structural anomaly of the tissues normally uniting to form the primary palate; the primary palate will form the premaxillary portion of the maxilla (anterior one-third of the final palate) MP:0013550 abnormal secondary palate morphology any structural anomaly of the portion of the palate formed by the growth of the two palatine shelves medially and their mutual fusion in the midline MP:0013551 decreased cerebellar granule cell precursor proliferation reduction in the ability of a cerebellar granule cell precursor population to undergo rapid expansion by cell division MP:0013552 increased cerebellar granule cell precursor proliferation increase in the ability of a cerebellar granule precursor cell population to undergo rapid expansion by cell division MP:0013553 increased macrophage proliferation increased ability of macrophages to undergo expansion by cell division; macrophages are large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells MP:0013554 abnormal apocrine gland morphology any structural anomaly of any exocrine gland whose cells bud their secretions off through the plasma membrane producing membrane-bound vesicles in the lumen; the apical portion of the secretory cell of the gland pinches off and enters the lumen; it loses part of its cytoplasm in their secretions; apocrine secretion is functional during hormonal stress or puberty; an example of true apocrine glands are mammary glands, responsible for secreting breast milk MP:0013555 abnormal apocrine gland physiology any functional anomaly of any exocrine gland whose cells bud their secretions off through the plasma membrane producing membrane-bound vesicles in the lumen; the apical portion of the secretory cell of the gland pinches off and enters the lumen; it loses part of its cytoplasm in their secretions; apocrine secretion is functional during hormonal stress or puberty; an example of true apocrine glands are mammary glands, responsible for secreting breast milk MP:0013556 abnormal holocrine gland physiology any functional anomaly of any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen MP:0013557 abnormal merocrine gland physiology any functional anomaly of any exocrine gland whose secretions are excreted via exocytosis from secretory cells into an epithelial-walled duct or ducts and thence onto a bodily surface or into the lumen; the gland releases its product and no part of the gland is lost or damaged MP:0013558 abnormal exocrine gland morphology any structural anomaly of any of the glands of the exocrine system that secrete their essential product by way of a duct to some environment external to itself, either inside the body or on a surface of the body; the duct portion may be branched (compound) or unbranched (simple); the glandular portion may be tubular or acinar, or may be a mix of the two (tubuloacinar or tubuloalveolar); if the glandular portion branches, then the gland is called a branched gland Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas MP:0013559 abnormal exocrine gland physiology any functional anomaly of any of the glands of the exocrine system that secrete their essential product by way of a duct to some environment external to itself, either inside the body or on a surface of the body; the duct portion may be branched (compound) or unbranched (simple); the glandular portion may be tubular or acinar, or may be a mix of the two (tubuloacinar or tubuloalveolar); if the glandular portion branches, then the gland is called a branched gland Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas MP:0013560 abnormal endocrine gland morphology any structural anomaly of any of the glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct MP:0013561 abnormal endocrine gland physiology any functional anomaly of any of the glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct MP:0013562 abnormal circumventricular organ morphology any structural abnormality of any of the secretory or sensory organs located in the brain region around or in relation to the ventricular system that are characterized by extensive vasculature and a lack of a normal blood brain barrier (BBB) and allow for the linkage between the central nervous system and peripheral blood flow; CVOs contain neural tissue and are an integral part of neuroendocrine function; all of the CVOs, besides the subcommissural organ, contain extensive vasculature and fenestrated capillaries which leads to a leaky BBB at the site of the organs; the lack of a BBB allows CVOs to act as an alternative route for peptides and hormones in the neural tissue to the peripheral blood stream, while still protecting it from toxic substances MP:0013563 abnormal secretory circumventricular organ morphology any structural abnormality of any of the circumventricular organs that are responsible for secreting hormones and glycoproteins into the peripheral vascular system using feedback from both the brain environment and external stimuli MP:0013564 abnormal sensory circumventricular organ morphology any structural anomaly of any of the circumventricular organs that have the ability to sense plasma molecules and then pass that information into other regions of the brain, thereby providing direct information to the autonomic nervous system from systemic circulation MP:0013565 abnormal adrenal gland capsule morphology any structural anomaly of the thick capsule of dense irregular connective tissue that surrounds each adrenal gland and contains scattered elastic fibers; the capsule contains a rich plexus of blood vessels (mainly small arteries) and numerous nerve fibers; some blood vessels and nerves enter the substance of the gland in the trabeculae that extend inward from the capsule and then leave the trabeculae to enter the cortex MP:0013566 dilated gastric gland stretched or widened aperture of the luminal space of one or more of the branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin MP:0013567 gastric gland atrophy acquired diminution of the size of any of the gastric glands, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal change MP:0013568 gastric gland degeneration a retrogressive impairment of function or destruction of any of the branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin MP:0013569 gastric gland hyperplasia increase in the number of normal cells in normal arrangement in the gastric gland, typically resulting in increased size MP:0013570 abnormal neuroendocrine gland physiology any functional anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli MP:0013571 abnormal parathyroid gland capsule morphology any structural anomaly of the dense and irregular connective tissue capsule surrounding each parathyroid gland MP:0013572 abnormal parathyroid gland chief cell morphology any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) MP:0013573 abnormal parathyroid gland development aberrant formation or incomplete differentiation of either of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland, which secrete parathyroid hormone (PTH), a hormone that regulates calcium and phosphorous metabolism; in mouse, the parathyroids develop with the thymus from two common parathyroid/thymus primordia originating from the third pharyngeal pouch endoderm; the third pharyngeal pouches are formed at E9.5-E10 and are patterned into dorsal/anterior parathyroid and ventral/posterior thymus domains; the third pouch endoderm proliferates to form bilateral parathyroid/thymus common primordia at E11-E11.5; each primordium separates into one parathyroid gland and one thymus lobe at E12.5-E13.5, which then migrate to their eventual adult locations by about E14.5; in the adult mouse, the parathyroids are located near or embedded within the thyroid gland, and the thymus is situated in the anterior chest cavity MP:0013574 ectopic parathyroid gland a parathyroid gland located outside of its normal position; in the normal adult mouse, the parathyroids are usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; because of their common pharyngeal pouch origin, ectopic thyroid and parathyroid tissue can occasionally be found in the thymus MP:0013575 abnormal forestomach-glandular stomach junction morphology any structural anomaly of the distinct low fold of tissue that separates the non-glandular area of the stomach (forestomach) from the glandular stomach; the limiting ridge extends circumferentially from the large curvature of the stomach to the small curvature, just below the esophagus; at the esophagus, the course of the limiting ridge bends into a U-shape and almost surrounds the esophageal opening MP:0013576 small forestomach reduced size of the distinct rodent non-glandular region of the stomach which is demarcated from the glandular stomach by the limiting ridge (margo plicatus) MP:0013577 forestomach hypoplasia decrease in the number of normal cells in normal arrangement in the forestomach, typically resulting in decreased size MP:0013578 abnormal stomach glandular region morphology any structural anomaly of the distinct glandular stomach area which in rodents is demarcated from the non-glandular forestomach by the limiting ridge (margo plicatus); the glandular stomach is connected to the small intestine (duodenum); the wall of the glandular stomach consists of, from inside to outside, simple columnar epithelium containing gastric glands, the lamina propria (epithelium and lamina propria form the glandular mucosa), the muscularis mucosae, the submucosa, the muscularis interna and externa (inner circular and outer longitudinal layers of smooth muscle), and the serosa; the gastric glands lined by simple columnar epithelium form deep gastric pits (foveolae) that are perpendicular to the wall of the stomach; three types of gastric glands exist; the cardiac glands, located near the limiting ridge, contain mucous cells; the pyloric glands also contain mucous cells; the fundic glands, which make up the majority of the gastric glands, contain a variety of cells: mucous neck cells, small, basophilic chief cells, and large, round parietal cells with a granular eosinophilic cytoplasm MP:0013579 increased adrenal gland apoptosis increase in the number of any cells of the adrenal gland undergoing programmed cell death MP:0013580 abnormal nasal gland morphology any structural anomaly of any of the seromucous glands found in the respiratory region of the nasal mucous membrane, including anterior serous glands, seromucous glands, and Bowman glands MP:0013581 nasal gland degeneration a retrogressive impairment of function or destruction of any of the seromucous glands found in the respiratory region of the nasal mucous membrane MP:0013582 abnormal lateral nasal gland morphology any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those described for the major serous salivary glands; secretory contents of the LNG drain into the nasal vestibule; the LNG is a major site for the synthesis and secretion of odorant-binding proteins that serve as odorant carriers in nasal mucus; it also, synthesizes large amounts of immunoglobulin A, which is important for immune defense of the upper respiratory tract, and testosterone and salivary androgen-binding proteins, which are likely important in olfaction and reproductive behavior MP:0013583 salivary gland degeneration a retrogressive impairment of function or destruction of any of the saliva-secreting glands of the oral cavity MP:0013584 pancreas degeneration a retrogressive impairment of function or destruction of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MP:0013585 thymus cortex atrophy acquired diminution of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0013586 thymus medulla atrophy acquired diminution of the inner area of thymus lobules associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0013587 absent thymus medulla lacking the inner area of thymus lobules MP:0013588 small thymus medulla decreased size of the inner area of thymus lobules MP:0013589 thymus medulla hypoplasia decrease in the number of normal cells in normal arrangement in the thymus medulla, typically resulting in decreased size MP:0013590 enlarged thymus medulla increased size of the inner area of thymus lobules MP:0013591 thymus medulla hyperplasia increase in the number of normal cells in normal arrangement in the thymus medulla, typically resulting in increased size MP:0013592 small thymus cortex decreased size of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes MP:0013593 enlarged thymus cortex increased size of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes MP:0013594 abnormal parotid gland acinus morphology any structural anomaly of any of the secretory units (acini) of either parotid gland which in human and rodent consist almost exclusively of serous secretory cells with their lumina continuous with intercalated ducts; in mouse, parotid gland acini are very small and consist of 3-4 tall pyramidal cells with strongly basophilic cytoplasm and basally located, large spherical nuclei; the serous secretory cells contain many secretory granules having an electron-lucent profile which are situated in the supranuclear cytoplasm; the serous secretory cells have a well-developed rough endoplasmic reticulum in the infranuclear region and are surrounded by myoepithelial cells MP:0013595 absent vomeronasal organ lacking the tubular, crescent-sensory organ with a luminal epithelium that contains chemosensitive receptor cells with microvilli that are thought to detect pheromones and transmit signals to the remainder of the accessory olfactory system MP:0013596 abnormal vomeronasal organ physiology any functional anomaly of the tubular, crescent-sensory organ with a luminal epithelium that contains chemosensitive receptor cells with microvilli that are thought to detect pheromones and transmit signals to the remainder of the accessory olfactory system; the organ lies at the base the nasal cavity and is split into two, separated by the nasal septum MP:0013597 small vomeronasal organ reduced size of the tubular, crescent-sensory organ with a luminal epithelium that contains chemosensitive receptor cells with microvilli that are thought to detect pheromones and transmit signals to the remainder of the accessory olfactory system MP:0013598 Leydig cell hypertrophy increased size of the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone (LH) MP:0013599 Leydig cell atrophy acquired diminution of the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone (LH), associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0013600 testis degeneration a retrogressive impairment of function or destruction of either or both of the male reproductive glands MP:0013601 increased testis apoptosis increase in the number of cells in testicular tissue undergoing programmed cell death MP:0013602 abnormal Leydig cell differentiation atypical formation of or inability to produce the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone; in most mammals, normal Leydig cell (LC) development comprises two sequential but overlapping cell lineages known as the fetal and adult type LC populations, which display distinct functional characteristics reflected by different morphology, hormonal regulation, and steroidogenic output MP:0013603 abnormal fetal Leydig cell differentiation atypical formation of or inability to produce the first or fetal population of Leydig cells (FLCs); in mice, FLCs arise in the testicular interstitium between E12.5 and E13.0, approximately 1 day after the appearance of Sertoli cells; Sertoli cells trigger differentiation of steroidogenic factor 1-positive (SF1-positive) progenitor cells into FLCs via paracrine regulation; the intercellular Notch signaling pathway is also involved in FLC establishment and maintenance; the FLC population increases dramatically during embryonic development despite the fact that differentiating FLCs are mitotically inactive, suggesting that expansion of FLC populations results from differentiation of progenitor cells, rather than cell division of existing FLCs; the SF1-positive cells in gonadal primordia are the primary source of FLCs but other sources such as neighboring mesonephros, migrating neural crest cells, and cells from the coelomic epithelium or interstitium are potential contributors also; at the end of fetal life and during the first 2 postnatal weeks in rodents, FLCs are gradually replaced by adult Leydig cells (ALCs) MP:0013604 abnormal adult Leydig cell differentiation atypical formation of or inability to produce the second or adult population of Leydig cells (ALCs) between birth and puberty; ALCs arise in the interstitium of adult testes from unknown progenitor cells and become the major source of androgens that control differentiation of the male reproductive tract and spermatogenesis; ALCs are not derived from fetal Leydig cells (FLCs), and the origin and the molecular events that control ALC differentiation are poorly understood MP:0013605 abnormal ovarian bursa morphology any structural anomaly of the peritoneal recess between the medial aspect of the ovary and the mesosalpinx MP:0013606 abnormal ovarian fossa morphology any structural anomaly of the shallow depression in the parietal peritoneum of the pelvis that lodges the ovary MP:0013607 ovary fibrosis invasion of fibrous connective tissue into the ovary, often resulting from inflammation or injury MP:0013608 abnormal ovarian cortex morphology any structural anomaly of the layer of the ovarian stroma lying immediately beneath the tunica albuginea, composed of connective tissue cells and fibers, among which are scattered primary and secondary (antral) follicles in various stages of development; the cortex varies in thickness according to the age of the individual, becoming thinner with advancing years; included in the follicles are the cumulus oophorus, membrana granulosa (and the granulosa cells inside it), corona radiata, zona pellucida, and primary oocyte; the zona pellucida, theca of follicle, antrum and liquor folliculi are also contained in the follicle; also in the cortex is the corpus luteum derived from the follicles MP:0013609 abnormal ovarian medulla morphology any structural anomaly of the highly vascular stroma found in the center of the ovary that forms from embryonic mesenchyme and contains blood vessels, lymphatic vessels, and nerves; this stroma forms the tissue of the hilum by which the ovarian ligament is attached, and through which the blood vessels enter MP:0013610 abnormal rete ovarii morphology any structural anomaly of the canal structure formed from the primary sex cords in females; a transient network of cells in the developing ovary that is homologous to the rete testis in males MP:0013611 abnormal bile duct epithelium morphology any structural anomaly of the epithelium lining the intrahepatic and extrahepatic bile ducts MP:0013612 enlarged caudal vertebrae increased size of the bony segments of the coccyx or tail MP:0013613 abnormal volumetric bone mineral density anomaly of the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usually in mgHA/cm^3), with results generated from Quantitative computed tomography (QCT) and other tests MP:0013614 abnormal areal bone mineral density anomaly of the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/cm^2), with results generated from Dual-energy X-ray absorptiometry (DXA or DEXA) tests MP:0013615 increased volumetric bone mineral density increase in the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usually in mgHA/cm^3), with results generated from Quantitative computed tomography (QCT) and other tests MP:0013616 decreased volumetric bone mineral density reduction in the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usually in mgHA/cm^3), with results generated from Quantitative computed tomography (QCT) and other tests MP:0013617 increased areal bone mineral density increase in the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/cm^2), with results generated from Dual-energy X-ray absorptiometry (DXA or DEXA) tests MP:0013618 decreased areal bone mineral density reduction of the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/cm^2), with results generated from Dual-energy X-ray absorptiometry (DXA or DEXA) tests MP:0013619 abnormal long bone internal diameter anomaly of the cross-sectional distance that extends from one lateral edge of a long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the bone MP:0013620 increased internal diameter of femur increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur MP:0013621 decreased internal diameter of femur reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur MP:0013622 abnormal femur compact bone thickness reduced or increased width of the superficial layer of compact bone at the midpoint of the femur MP:0013623 increased femur compact bone thickness increased width of the superficial layer of compact bone at the midpoint of the femur MP:0013624 decreased femur compact bone thickness reduced width of the superficial layer of compact bone at the midpoint of the femur MP:0013625 increased femur yield load increase in load (N) on the femur at which elastic deformation ends MP:0013626 decreased femur yield load decrease in load (N) on the femur at which elastic deformation ends MP:0013627 increased vertebra yield load increase in load (N) on a vertebra at which elastic deformation ends MP:0013628 decreased vertebra yield load decrease in load (N) on a vertebra at which elastic deformation ends MP:0013629 abnormal bone trabecular spacing any deviation in the amount of space between trabeculae in cancellous bone MP:0013630 increased bone trabecular spacing increase in the amount of space between trabeculae in cancellous bone MP:0013631 decreased bone trabecular spacing decrease in the amount of space between trabeculae in cancellous bone MP:0013632 increased femur maximal load increase in the maximal load (N) that can be sustained by the femur MP:0013633 decreased femur maximal load decrease in the maximal load (N) that can be sustained by the femur MP:0013634 increased femur fracture load increase in the load at which material failure occurs after plastic deformation MP:0013635 decreased femur fracture load decrease in the load at which material failure occurs after plastic deformation MP:0013636 abnormal bone stiffness deviation in material stiffness (N/mm) during elastic deformation MP:0013637 increased femur stiffness increase in material stiffness (N/mm) during elastic deformation in the femur MP:0013638 decreased femur stiffness decrease in material stiffness (N/mm) during elastic deformation in the femur MP:0013639 decreased bone stiffness decrease in material stiffness (N/mm) during elastic deformation MP:0013640 increased bone stiffness increase in material stiffness (N/mm) during elastic deformation MP:0013641 increased vertebra stiffness increase in material stiffness (N/mm) during elastic deformation in a vertebra MP:0013642 decreased vertebra stiffness decrease in material stiffness (N/mm) during elastic deformation in a vertebra MP:0013643 decreased vertebra maximal load decrease in the maximal load (N) that can be sustained by a vertebra MP:0013644 increased vertebra maximal load increase in the maximal load (N) that can be sustained by a vertebra MP:0013645 increased energy dissipated prior to femur fracture increase in the fraction of total energy dissapated prior to ultimate material failure (low energy fracture) by the femur MP:0013646 decreased energy dissipated prior to femur fracture decrease in the fraction of total energy dissapated prior to ultimate material failure (high energy fracture) by the femur MP:0013647 abnormal CD11b-high dendritic cell number anomaly in the number of dendritic cells expressing high levels of CD11b which usually depend on Irf4 for their development MP:0013648 increased CD11b-high dendritic cell number increase in the number of dendritic cells expressing high levels of CD11b which usually depend on Irf4 for their development MP:0013649 decreased CD11b-high dendritic cell number reduction in the number of dendritic cells expressing high levels of CD11b which usually depend on Irf4 for their development MP:0013650 abnormal CD11b-low dendritic cell number anomaly in the number of dendritic cells expressing low levels of CD11b which usually express CD8, depend on Irf8 and Batf3 for their development and are responsible for cross-presentation MP:0013651 increased CD11b-low dendritic cell number increase in the number of dendritic cells expressing low levels of CD11b which usually express CD8, depend on Irf8 and Batf3 for their development and are responsible for cross-presentation MP:0013652 decreased CD11b-low dendritic cell number reduction in the number of dendritic cells expressing low levels of CD11b which usually express CD8, depend on Irf8 and Batf3 for their development and are responsible for cross-presentation MP:0013653 abnormal CD103-positive CD11b-low dendritic cell number anomaly in the number of CD11b-low dendritic cells expressing CD103, a marker of tissue residency MP:0013654 increased CD103-positive CD11b-low dendritic cell number increase in the number of CD11b-low dendritic cells expressing CD103, a marker of tissue residency MP:0013655 decreased CD103-positive CD11b-low dendritic cell number reduction in the number of CD11b-low dendritic cells expressing CD103, a marker of tissue residency MP:0013656 abnormal hematopoietic cell morphology any structural anomaly of any of the cells of the hematopoietic lineage MP:0013657 abnormal blood cell morphology any structural anomaly of cells found in the blood MP:0013658 abnormal myeloid cell morphology any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage MP:0013659 abnormal erythroid lineage cell morphology any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes MP:0013660 abnormal bone marrow hematopoietic cell morphology any structural anomaly of hematopoietic cells that are resident in the bone marrow, including hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes MP:0013661 abnormal myeloid cell number any anomaly in the expected number of cells of the myeloid lineage MP:0013662 decreased myeloid cell number reduction in the expected number of cells of the myeloid lineage MP:0013663 increased myeloid cell number greater than the expected number of cells of the myeloid lineage MP:0013664 abnormal immature B cell number anomaly in the number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity MP:0013665 abnormal immature NK cell number anomaly in the number of NK cells lacking expression of the maturation marker CD11b MP:0013666 decreased immature NK cell number reduction in the number of NK cells lacking expression of the maturation marker CD11b MP:0013667 increased immature NK cell number increase in the number of NK cells lacking expression of the maturation marker CD11b MP:0013668 abnormal Ly6C-positive immature NK cell number anomaly in the number of immature NK cells expressing the memory marker Ly6C MP:0013669 decreased Ly6C-positive immature NK cell number reduction in the number of immature NK cells expressing the memory marker Ly6C MP:0013670 increased Ly6C-positive immature NK cell number increase in the number of immature NK cells expressing the memory marker Ly6C MP:0013671 abnormal mature NK cell number anomaly in the number of NK cells expressing the maturation marker CD11b MP:0013672 decreased mature NK cell number reduction in the number of NK cells expressing the maturation marker CD11b MP:0013673 increased mature NK cell number increase in the number of NK cells expressing the maturation marker CD11b MP:0013674 abnormal Ly6C-positive mature NK cell number anomaly in the number of mature NK cells expressing the memory marker Ly6C MP:0013675 decreased Ly6C-positive mature NK cell number reduction in the number of mature NK cells expressing the memory marker Ly6C MP:0013676 increased Ly6C-positive mature NK cell number increase in the number of mature NK cells expressing the memory marker Ly6C MP:0013677 abnormal Ly6C-positive NK T cell number anomaly in the number of NK T cells expressing the memory marker Ly6C MP:0013678 decreased Ly6C-positive NK T cell number reduction in the number of NK T cells expressing the memory marker Ly6C MP:0013679 increased Ly6C-positive NK T cell number increase in the number of NK T cells expressing the memory marker Ly6C MP:0013680 abnormal germinal center B cell number anomaly in the number of a rapidly cycling mature B cell which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen MP:0013681 abnormal early germinal center B cell number any structural anomaly of germinal center B cells with residual expression of IgD MP:0013682 abnormal late germinal center B cell number anomaly in the number of germinal center B cells expressing IgG1 and lacking expression of IgD MP:0013683 decreased early germinal center B cell number reduction in the number of germinal center B cells with residual expression of IgD MP:0013684 increased early germinal center B cell number increase in the number of germinal center B cells with residual expression of IgD MP:0013685 decreased late germinal center B cell number reduction in the number of germinal center B cells expressing IgG1 and lacking expression of IgD MP:0013686 increased late germinal center B cell number increase in the number of germinal center B cells expressing IgG1 and lacking expression of IgD MP:0013687 abnormal CD5-positive T cell number anomaly in the number of T cells expressing CD5, a negative regulator of T cell signaling MP:0013688 decreased CD5-positive T cell number reduction in the number of T cells expressing CD5, a negative regulator of T cell signaling MP:0013689 increased CD5-positive T cell number increase in the number of T cells expressing CD5, a negative regulator of T cell signaling MP:0013690 abnormal CD5-positive Ly6C-positive T cell number anomaly in the number of CD5-positive T cells expressing the memory marker Ly6C MP:0013691 decreased CD5-positive Ly6C-positive T cell number reduction in the number of CD5-positive T cells expressing the memory marker Ly6C MP:0013692 increased CD5-positive Ly6C-positive T cell number increase in the number of CD5-positive T cells expressing the memory marker Ly6C MP:0013693 abnormal hemopoiesis any anomaly in the process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure; the site of hemopoiesis is variable during development, but occurs primarily in bone marrow in mammals MP:0013694 abnormal granulocyte monocyte progenitor cell morphology any structural anomaly of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 MP:0013695 abnormal granulocyte monocyte progenitor cell number anomaly in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 MP:0013696 increased granulocyte monocyte progenitor cell number increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 MP:0013697 decreased granulocyte monocyte progenitor cell number reduction in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 MP:0013698 absent granulocyte monocyte progenitor cells absence of hematopoietic progenitor cells that are committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 MP:0013699 abnormal immature NK cell morphology any structural anomaly in the number of NK cells lacking expression of the maturation marker CD11b MP:0013700 abnormal mature NK cell morphology any structural anomaly of NK cells expressing the maturation marker CD11b MP:0013701 abnormal mature B cell number anomaly in the number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex MP:0013702 abnormal megakaryocyte-erythroid progenitor cell morphology any structural anomaly of a progenitor cell committed to the megakaryocyte and erythroid lineages MP:0013703 abnormal megakaryocyte-erythroid progenitor cell number anomaly in the number of a progenitor cell committed to the megakaryocyte and erythroid lineages MP:0013704 increased megakaryocyte-erythroid progenitor cell number increase in the number of a progenitor cell committed to the megakaryocyte and erythroid lineages MP:0013705 decreased megakaryocyte-erythroid progenitor cell number reduced number of a progenitor cell committed to the megakaryocyte and erythroid lineages MP:0013706 absent megakaryocyte-erythroid progenitor cells absence of progenitor cells committed to the megakaryocyte and erythroid lineages MP:0013707 abnormal hematopoietic precursor cell morphology any structural anomaly of a hematopoietic cell that is a precursor of some other hematopoietic cell type MP:0013708 abnormal hematopoietic precursor cell number anomaly in the number of a hematopoietic cell that is a precursor of some other hematopoietic cell type MP:0013709 abnormal cervical mammary gland morphology any structural anomaly of either of two mammary glands located in the cervical (i.e. neck) region, forward of the axial area of the forelimbs (mice have a single pair of cervical mammary glands) MP:0013710 abnormal abdominal mammary gland morphology any structural anomaly of either of the two mammary glands located in the abdominal wall (mice have a single pair of abdominal mammary glands) MP:0013711 abnormal inguinal mammary gland morphology any structural anomaly of either of the two mammary glands located in the inguinal region between the hind legs (mice have a single pair of inguinal mammary glands) MP:0013712 abnormal thoracic mammary gland morphology any structural anomaly of any of the mammary glands located in the thoracic (i.e. pectoral or chest wall) region (mice have two pairs of thoracic mammary glands) MP:0013713 decreased nipple size reduced size of the erectile projection at the apex of the mammary gland where the lactiferous ducts open MP:0013714 abnormal mammary gland number anomaly in the expected number of the specialized accessory gland of the skin of mammals that secretes milk MP:0013715 decreased mammary gland number fewer than the expected number of the specialized accessory gland of the skin of mammals that secretes milk MP:0013716 hypolactation partial failure, or reduced ability to produce or secrete milk from the mammary gland MP:0013717 hyperlactation secretion of milk from the mammary gland in excessive amount, or for an abnormally prolonged period MP:0013718 galactostasis abnormal accumulation of milk within the mammary gland alveoli and ducts due to failure of ejection (letdown) from the gland; may be associated with nipple anatomic abnormalities MP:0013719 pale mammary gland loss of the normal reddish-pink color of mammary gland tissue MP:0013720 abnormal mammary line morphology any structural anomaly of either of the presumptive bilateral epidermal ridges (milk lines) formed at the onset of mammogenesis and running in an anteroposterior direction ventrally between fore- and hindlimbs, one line along each flank of the embryo; in mouse, mammary gland development begins shortly after mid-gestation (about E10.5); epidermal cells within the milk line become columnar and multilayered, defining a ridge that protrudes above and below the plane of the single-layered primitive epidermis or periderm; by E11.5, five pairs of lens-shaped placodes form along the mammary line at the site of each future nipple MP:0013721 abnormal mammary placode morphology any structural anomaly of the transient lens-shaped thickening of surface ectoderm that will give rise to the mammary bud proper; in mouse, five pairs of symmetrically positioned mammary placodes (three thoracic and two inguinal) form at reproducible locations along the mammary line at E11.5; the individual pairs develop asynchronously and in a distinct order; pair 3 is first, followed by pair 4, then by pairs 1 and 5 (which develop together), and finally by pair 2; the orientation of placodal cells is not uniform, suggesting that placodes are formed by migration of cells from the mammary line; between E11.5 and E12.5, each mammary placode expands and invaginates into the underlying mesenchyme to form an early bulb-shaped mammary bud MP:0013722 abnormal circulating tyrosine level aberrant concentration in the blood of tyrosine or 4-hydroxyphenylalanine, a non-essential amino acid with a polar side group present in most proteins and synthesized metabolically from phenylalanine; tyrosine is a precursor of melanin, catecholamines, and thyroid hormones MP:0013723 increased circulating tyrosine level increase in the amount per unit of blood of tyrosine MP:0013724 decreased circulating tyrosine level reduction in the amount per unit of blood of tyrosine MP:0013725 abnormal mammary gland cord morphology any structural anomaly of the solid cord of epithelial cells that emerges from the mammary bud and grows down from the primary mammary mesenchyme and into a second stromal compartment, the fat pad precursor, beneath the dermis; in female mouse embryos, the primary mammary cord (mammary sprout) is formed between E15.5 and E16.5; once the primary cord reaches the adipocytes of the fat pad (around E16), it begins to branch in a characteristic dichotomous fashion to form the initial ductal tree MP:0013726 abnormal mammary gland cord formation any anomaly in the process by which the mammary gland cord forms by elongation of the mammary bud; in female mouse embryos, the cord is formed between E15.5 and E16.5, once the elongating bud breaks through the primary mammary mesenchyme and reaches the fat pad precursor, and remains connected to the epidermis; by E16.5 a lumen develops within the sprout resulting in a primary duct opening to the exterior, and the nipple forms by differentiation of the overlying epidermis in response to signals from specialized mammary mesenchyme; in male mouse embryos, the activation of androgen receptors causes the mammary buds to separate from the epithelium between E14.5 and E15.5 and subsequently degenerate MP:0013727 abnormal nipple sheath morphology any structural abnormality of the circular ingrowth of the epidermis around the origin of the mammary cord (mammary sprout); in female mouse embryos, the nipple sheath is the first histological evidence of nipple formation seen at E16.5; at E18, the epidermis at the bottom of this epidermal ingrowth is lifted, making a rounded elevated portion, which is the anlage of the nipple MP:0013728 abnormal nipple sheath formation any anomaly in the developmental process pertaining to the initial formation of the nipple sheath from the unspecified epidermis; in female mouse embryos, this process begins with a circular ingrowth of the epidermis around the origin of the mammary cord (mammary sprout) at E16.5 and ends before the underlying epidermis begins to elevate MP:0013729 absent nipple sheath absence or failure of formation of the circular ingrowth of the epidermis around the origin of the mammary cord (mammary sprout); in female mouse embryos, the nipple sheath is the first histological evidence of nipple formation seen at E16.5 MP:0013730 glutathionuria elevated concentrations of the reducing agent glutathione in urine MP:0013731 immature cataract an early stage cataract in which the lens is partially opaque, absorbs fluid and increases by swelling; the lens is only slightly opaque and the cortex is clear MP:0013732 mature cataract cataract in which the both the lens nucleus and cortex are opaque and lens fibers are swollen MP:0013733 squamous metaplasia of bulbourethral gland a benign non-cancerous transformation of the bulbourethral glandular epithelium into stratified squamous epithelium; keratinization may be present MP:0013734 squamous metaplasia of preputial gland a benign non-cancerous transformation of the preputial glandular epithelium into stratified squamous epithelium; keratinization may be present MP:0013735 squamous metaplasia of urethral gland a benign non-cancerous transformation of the urethral glandular epithelium into stratified squamous epithelium; keratinization may be present MP:0013736 abnormal bulbourethral gland development aberrant formation or incomplete differentiation of either of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; in mouse, bulbourethral glands are first identifiable at E17.5 and epithelial branching normally starts at postnatal day P1; during development, bulbourethral glands arise as epithelial outgrowths of the endodermal urogenital sinus invading the condensed mesenchyme flanking the primitive urethra; during subsequent development the epithelium branches extensively, filling the mesenchymal capsule and giving rise to the highly arborized ductal system of the mature organ MP:0013737 small bulbourethral gland reduced size of either of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle MP:0013738 abnormal testis tunica albuginea morphology any structural anomaly of the dense fibrous connective tissue layer that covers the testis MP:0013739 abnormal testis tunica vaginalis morphology any structural anomaly of the outer coelomic epithelial covering of the testis; a sac of serous tissue covering the testis and the epididymis within which the testis can move about; it covers the tunica albuginea MP:0013740 Meibomian gland hyperplasia increase in the number of normal cells in normal arrangement in the Meibomian gland, typically resulting in increased size MP:0013741 absent thymus corticomedullary boundary complete absence or loss of the dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, dendritic cells, variable numbers of perivascular B-lymphocytes and plasma cells; normally, this is the site of entry of bone marrow stem cells and exit of mature, functional T cells MP:0013742 absent ciliary body absence of the thickened portion of the vascular tunic, which lies between the choroid and the iris MP:0013743 ciliary body hypoplasia decrease in the number of normal cells in normal arrangement in the ciliary body, typically resulting in decreased size MP:0013744 abnormal conjunctival sac morphology any structural anomaly of the space bound by the conjunctival membrane between the palpebral and bulbar conjunctiva, into which the lacrimal fluid is secreted; it is a closed space when eye is closed; when eye is open, the sac is open anteriorly through the palpebral fissure (between the eyelids) MP:0013745 abnormal eyelid margin morphology any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium MP:0013746 abnormal parotid intralobular duct morphology any structural anomaly of any of the tubular canals of the parotid gland located within the parenchymal (secretory) tissue i.e. within lobules; both intercalated and striated (secretory) ducts are intralobular ducts MP:0013747 abnormal parotid intercalated duct morphology any structural anomaly of the small intralobular tubular canal that leads directly from the serous acinus of the parotid gland to a striated (secretory) duct; in mouse, the intercalated ducts are short and narrow and are lined by low cuboidal epithelial cells with large central nuclei; they secrete bicarbonate ion into and absorb chloride ion from the acinar product MP:0013748 abnormal parotid striated duct morphology any structural anomaly of the intralobular secretory duct of the parotid gland which connects an intercalated duct to an interlobular excretory duct; striated ducts are lined by cuboidal to columnar acidophilic cells and are so-named because of characteristic striations in the basal portions of the cells which are due to the alignment of mitochondria between deep infoldings of the basal cell membrane; the nucleus is in the central part of the cell above the striations; as they approach the excretory ducts, their diameter may exceed that of the acini; striated ducts reabsorb sodium and secrete potassium MP:0013749 abnormal parotid interlobular duct morphology any structural anomaly of the excretory ducts of the parotid gland which are found in the connective tissue septa i.e. between lobules MP:0013750 abnormal parotid excretory duct morphology any structural anomaly of the interlobular excretory ducts of the parotid gland which are found in the connective tissue septa and formed by the union of several intralobular striated (secretory) ducts; ultimately, the excretory ducts of the parotid gland coalesce and form a single main excretory duct (Stensen's duct) that opens into the oral cavity; excretory ducts do not change the secretory product MP:0013751 increased cystadenoma incidence greater than the expected number of a histologically benign neoplasm derived from glandular epithelium, in which cystic accumulations of retained secretions are formed, occurring in a specific population in a given time period; in some instances, considerable portions of the neoplasm, or even the entire mass, may be cystic MP:0013752 stridor a high-pitched breath sound resulting from turbulent air flow in the larynx or lower in the bronchial tree; it should not to be confused with stertor which is a noise originating in the pharynx; stridor is a physical sign which is caused by a narrowed or obstructed airway; it can be inspiratory, expiratory or biphasic, although it is usually heard during inspiration MP:0013753 tracheomalacia a condition characterized by flaccidity of the tracheal support cartilage which leads to tracheal collapse especially when increased airflow is demanded; the trachea normally dilates slightly during inspiration and narrows slightly during expiration; these processes are exaggerated in tracheomalacia, leading to airway collapse on expiration; the usual symptom of tracheomalacia is expiratory stridor or laryngeal crow MP:0013754 abnormal ocular surface morphology any structural anomaly of the integrated unit (of the eye) that consists of the conjunctiva, the corneal surface, and the ocular mucosal adnexa including the lid margins and the meibomian gland openings, the lacrimal glands and the lacrimal drainage system, all which are critical to maintain ocular surface integrity and provide protection from external antigens and pathogenic microorganisms MP:0013755 abnormal intestinal phytosterol absorption any anomaly in the process in which phytosterols are taken up from the contents of the intestine; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol MP:0013756 increased intestinal phytosterol absorption increased ability to take up phytosterols from the contents of the intestine; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol MP:0013757 decreased intestinal phytosterol absorption reduced ability to take up phytosterols from the contents of the intestine; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol MP:0013758 increased intestinal glucose absorption increased ability of the small intestine to absorb glucose into the bloodstream MP:0013759 decreased intestinal glucose absorption reduced ability of the small intestine to absorb glucose into the bloodstream MP:0013760 abnormal T-helper cell morphology any structural anomaly of an effector T cell that provides help in the form of secreted cytokines to other immune cells MP:0013761 abnormal T-helper cell number anomaly in the number of an effector T cell that provides help in the form of secreted cytokines to other immune cells MP:0013762 abnormal effector T cell number anomaly in the number of differentiated T cells which have the ability to traffic to peripheral tissues and are capable of mounting a specific immune response MP:0013763 increased T-helper cell number increase in the number of an effector T cell that provides help in the form of secreted cytokines to other immune cells MP:0013764 decreased T-helper cell number reduction in the number of an effector T cell that provides help in the form of secreted cytokines to other immune cells MP:0013765 iris hyperplasia increase in the number of normal cells in normal arrangement in the iris, typically resulting in increased size MP:0013766 absent palatal rugae absence of the transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species MP:0013767 decreased palatal rugae number reduced number of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species MP:0013768 decreased marginal zone precursor B cell number reduction in the number of CD23-positive, CD21-positive B cells in the marginal zone of lymphoid tissues MP:0013769 increased marginal zone precursor B cell number increase in the number of CD23-positive, CD21-positive B cells in the marginal zone of lymphoid tissues MP:0013770 abnormal effector memory T-helper cell number anomaly in the number of CD4-positive alpha-beta T-helper cells with a CD44-positive, CD62L-negative memory phenotype MP:0013771 decreased effector memory T-helper cell number reduction in the number of CD4-positive alpha-beta T-helper cells with a CD44-positive, CD62L-negative memory phenotype MP:0013772 increased effector memory T-helper cell number increase in the number of CD4-positive alpha-beta T-helper cells with a CD44-positive, CD62L-negative memory phenotype MP:0013773 abnormal KLRG1-positive T-helper cell number anomaly in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation MP:0013774 decreased KLRG1-positive T-helper cell number reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation MP:0013775 increased KLRG1-positive T-helper cell number increase in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation MP:0013776 bone marrow failure inherited or acquired dysfunction of hematopoietic stem cells that can result in abnormalities in one or more of the stem cell lineages (erythroid, myeloid, megakaryocytic) MP:0013777 spontaneous remission from bone marrow failure a lessening of symptoms or intensity of disease due to bone marrow failure that occurs without treatment and may be temporary or permanent MP:0013778 abnormal mammary gland myoepithelium morphology any structural anomaly of the outer cell layer of the mammary gland epithelium bilayer which is located basal to the luminal (secretory) cells and adjacent to the basement membrane; basal cells (aka myoepithelial cells) are specialized epithelial cells that express smooth muscle-specific contractile and cytoskeletal properties; in lactating females, milk is produced by luminal cells, secreted into the alveolar lumen and collected in the ducts for expulsion out of the body through the nipple, due to the contractile activity of the basal myoepithelial cells MP:0013779 abnormal mammary gland myoepithelium physiology any functional anomaly of the outer cell layer of the mammary gland epithelium bilayer which is located basal to the luminal (secretory) cells and adjacent to the basement membrane; basal cells (aka myoepithelial cells or MECs) are specialized epithelial cells that express smooth muscle-specific contractile and cytoskeletal properties; during lactation, MECs contract in response to oxytocin to generate the contractile force required for milk ejection; MECs are involved in all developmental stages of mammary gland morphogenesis, modulating proliferation and differentiation of luminal cells; they take part in the formation of extracellular matrix, synthesizing its components and secreting proteinases and their inhibitors; in addition, MECs are regarded as natural cancer suppressors: they secrete suppressor proteins limiting cancer growth, invasiveness, and neoangiogenesis; MECs are markedly resistant to malignant transformation and they are able to suppress the transformation of neighboring luminal cells MP:0013780 decreased mammary myoepithelial cell contraction reduced ability of the mammary myoepithelial cells to contract in response to oxytocin and generate the contractile force required for successful milk ejection and lactation MP:0013781 abnormal mammary gland luminal epithelium morphology any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective tissue; they are secretory epithelial cells characterized by the expression of the receptors for systemic hormones, i.e. estrogens, progesterone and prolactin MP:0013782 abnormal mammary duct terminal end bud morphology any structural anomaly of the unique club-shaped epithelial structure that develops at the tip of the mammary duct at the onset of puberty (approximately 3 weeks of age in mouse) under the action of circulating hormones; terminal end buds (TEBs) consist of an outer layer of undifferentiated myoepithelial progenitor cells (cap cells), and a multilayered inner core of luminal epithelial cells (body) fated to form the walls of the ductal lumen; both layers have high rates of mitosis, consistent with a motile organ dedicated to ductal morphogenesis; TEBs proliferate, ramify, and actively invade the fad pad to allow the formation of a complex branching structure; this process of branching morphogenesis concludes at about 10-12 weeks of age in mouse, when TEBs have traversed the length of the fat pad and a fully developed ductal tree has formed MP:0013783 absent mammary duct terminal end bud failure to develop or maintain the unique club-shaped epithelial structure normally formed at the tip of the mammary duct at the onset of puberty (approximately 3 weeks of age in mouse) under the action of circulating hormones; normally, TEBs proliferate, ramify, and actively invade the fad pad to allow the formation of a complex branching structure; this process of branching morphogenesis concludes at about 10-12 weeks of age in mouse, when TEBs have traversed the length of the fat pad and a fully developed ductal tree has formed; absence of TEBs is often associated with reduced ductal outgrowth and impaired branching morphogenesis MP:0013784 abnormal mammary gland bud elongation any anomaly in the process in which a mammary bud grows along its axis; in mouse embryos, the distal end of the mammary bud begins to elongate into the underlying dermal mesenchyme to form a mammary cord (sprout) by E15.5 MP:0013785 abnormal mammary gland bud morphology any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is elevated above the surrounding ectoderm as a knob or dome; at E13.5, the buds sink into the underlying dermal mesenchyme, and by E14.5 they can no longer be detected externally; in female mouse embryos, five pairs of anlagen or buds are formed along the mammary line between E12.5 and E14.5 by proliferation of basal epidermal cells; while further mammary development is temporarily arrested in females, androgen receptor activation in male embryos causes degeneration of the buds between E13.5 and E15.5; in female mice, further development is resumed at around E15.5 when each bud elongates to form a mammary cord (sprout), invading the underlying fat pad precursor MP:0013786 abnormal mammary gland bud formation any anomaly in the morphogenetic process in which a distinct bulb of epithelial cells forms from a mammary placode MP:0013787 photophobia abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the eyes due to light exposure or by presence of actual physical sensitivity of the eyes MP:0013788 external nares atresia congenital blockage, fusion, or absence of the normal anterior openings to the nasal cavity; the naris may be closed by membrane, cartilage or, rarely, bone MP:0013789 small external nares decreased size of the anterior openings to the nasal cavity MP:0013790 single external naris presence of only one anterior opening to the nasal cavity as opposed to the normal two; usually associated with midline facial defects arising from cleavage anomalies MP:0013791 absent external nares absence or failure to form both of the anterior openings to the nasal cavity MP:0013792 abnormal small intestine goblet cell morphology any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus MP:0013793 abnormal large intestine goblet cell morphology any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the large intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus MP:0013794 abnormal intestinal villus goblet cell morphology any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the villi of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus MP:0013795 abnormal colon goblet cell morphology any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the colon, whose primary function is to secrete gel-forming mucins, the major components of mucus MP:0013796 abnormal duodenal goblet cell morphology any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the duodenum of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus MP:0013797 abnormal ileal goblet cell morphology any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the ileum of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus MP:0013798 abnormal jeujunal goblet cell morphology any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the jejunum of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus MP:0013799 abnormal intestinal goblet cell physiology any functional anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the small and large intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus; intestinal goblet cells produce a number of effector molecules including a range of mucins and antimicrobial proteins, such as trefoil factors and resistin-like molecules, which enable these to play a key part in innate defense mechanisms in the gut, against both bacterial and parasitic infections MP:0013800 abnormal pericardial fat pad morphology any structural anomaly of the encapsulated adipose tissue surrounding the cardiac tissue MP:0013801 abnormal subscapular fat pad morphology any structural anomaly of the encapsulated adipose tissue located beneath the scapulae MP:0013802 abnormal IgG2 level deviation from the normal levels of the total immunoglobulin class G2 level MP:0013803 increased IgG2 level greater than normal immunoglobulin class G2 level MP:0013804 decreased IgG2 level less than normal immunoglobulin class G2 level MP:0013805 myeloid metaplasia a progressive disease of the bone marrow where neoplastic bone marrow stem cells lodge and grow at sites outside the bone marrow, and the marrow is replaced by fibrous (scar) tissue; may lead to anemia, enlarged spleen, the presence of nucleated red blood cells and immature granulocytes in the blood, and the occurrence of extramedullary hematopoiesis in the spleen and liver MP:0013806 encephalopathy any diffuse disorder of the brain that alters brain function or structure MP:0013807 generalized edema generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body MP:0013808 abnormal tunnel of Corti morphology any structrual anomaly of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti MP:0013809 absent pectinate muscle absence of the prominent ridges of atrial myocardium located on the inner surface of most of the right atrium and both the right and left auricular regions MP:0013810 absent brachiocephalic trunk absence of the short first aortic arch branch which divides into the right subclavian artery and the right common carotid artery MP:0013811 abnormal orbital vein morphology any structural anomaly of the highly complex and variable set of veins that drain blood from the eye and supporting tissue, including the superior and inferior ophthalmic veins, the middle and medial ophthalmic veins, four collateral veins), variable orbital venous networks, and variable venous tributaries MP:0013812 enlarged orbital veins increased size of the highly complex and variable set of veins that drain blood from the eye and supporting tissue, including the superior and inferior ophthalmic veins, the middle and medial ophthalmic veins, four collateral veins), variable orbital venous networks, and variable venous tributaries MP:0013813 dilated hepatic portal vein an expansion in the lumen volume of the wide short vein formed from the confluence of the superior mesenteric, inferior mesenteric and splenic veins, which then divides into the right and left branches which ramify with the liver MP:0013814 abnormal hepatic portal vein connection any anomaly of the connection site of the right or left branch of the hepatic portal vein to the liver MP:0013815 abnormal digastric muscle morphology any structural anomaly of the small suprahyoid muscle located below the body of the mandible, and extending, in a curved form, from the mastoid notch to the symphysis menti; it consists of two muscular bellies, an anterior and a posterior belly, united by an intermediate rounded tendon attaching to the hyoid bone through a fibrous loop; the two bellies have different embryological origins and are supplied by different cranial nerves MP:0013816 absent digastric muscle absence of the small suprahyoid muscle located below the body of the mandible, and extending, in a curved form, from the mastoid notch to the symphysis menti; it consists of an anterior and a posterior belly, united by an intermediate rounded tendon attaching to the hyoid bone through a fibrous loop MP:0013817 absent nasal cavity absence of the cavity of the respiratory tract that extends from the nares to the pharynx; the nasal cavity is lined with ciliated mucosa MP:0013818 abnormal oral cavity morphology any structural anomaly of the anatomical cavity at the start of the digestive tract that is enclosed by the mouth MP:0013819 abnormal acromioclavicular joint morphology any structural anomaly of any joint connecting the acromonion of the scapula and clavicle MP:0013820 absent optic cup absence of the double walled structure formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and neuronal layers of the retina, with the mouth of the optic cup developing into the pupil of the eye MP:0013821 abnormal cerebral artery morphology any structural anomaly of any of three main pairs of arteries and their branches, which irrigate the cerebrum of the brain MP:0013822 abnormal anterior cerebral artery morphology any structural anomaly of a pair of arteries on the brain that supply oxygen to most medial portions of frontal lobes and superior medial parietal lobes; the anterior cerebral arteries arise from the internal carotid artery and are part of the Circle of Willis MP:0013823 absent segment of anterior cerebral artery absence of a portion of a pair of arteries on the brain that supply oxygen to most medial portions of frontal lobes and superior medial parietal lobes MP:0013824 abnormal hypoglossal canal morphology any structural anomaly of the bony canal in the occipital bone through which the hypoglossal nerve emerges from the skull MP:0013825 small hypoglossal canal reduced size of the bony canal in the occipital bone through which the hypoglossal nerve emerges from the skull MP:0013826 absent hypoglossal canal absence of the bony canal in the occipital bone through which the hypoglossal nerve emerges from the skull MP:0013827 thin oculomotor nerve slender appearance of the third cranial nerve, which normally sends motor fibers to the levator muscles of the eyelid and to the superior rectus, inferior rectus, and inferior oblique muscles of the eye MP:0013828 thin facial nerve a slender apperance of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue MP:0013829 thin splanchnic nerve slender appearance of the major nerves supplying sympathetic innervation to the abdomen, including the greater, lesser, and lowest (or smallest) splanchnic nerves that are formed by preganglionic fibers from the spinal cord, which pass through the paravertebral ganglia and then to the celiac ganglia and plexuses, and the lumbar splanchnic nerves carry fibers which pass through the lumbar paravertebral ganglia to the mesenteric and hypogastric ganglia MP:0013830 abnormal intrathoracic topology of vagus nerve abnormal position of the vagus nerve in the intrathoracic region MP:0013831 vagus nerve compression a flattened or pressed appearance of the vagus nerve as if by applied pressure MP:0013832 thin vagus nerve slender appearance of the autonomic, sensory and motor axons of the tenth cranial nerve MP:0013833 absent olfactory nerve absence of the first cranial nerve, which conveys the sense of smell MP:0013834 thin hypoglossal nerve slender appearance of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue MP:0013835 absent hypoglossal nerve absence of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue MP:0013836 abnormal hypoglossal nerve topology abnormal position of the hypoglossal nerve MP:0013837 abnormal vagus nerve topology abnormal position of the vagus nerve MP:0013838 small caudate nucleus decreased size of one or both C-shaped structures that border the lateral ventricle and contain input neurons involved with control of voluntary movement in the brain MP:0013839 abnormal posterior cerebral artery morphology any structural anomaly of one of a pair of blood vessels that supplies oxygenated blood to the posterior aspect of the brain; it arises near the intersection of the posterior communicating artery and the basilar artery and connects with the ipsilateral middle cerebral artery (MCA) and internal carotid artery via the posterior communicating artery MP:0013840 absent segment of posterior cerebral artery absence of a portion of one of a pair of blood vessels that supplies oxygenated blood to the posterior aspect of the brain MP:0013841 abnormal lymphatic vessel topology abnormal position of any component of the network of vessels that carries lymph around the body MP:0013842 ductus venosus stenosis abnormal narrowing or constriction of the lumen of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein that allows oxygenated blood to bypass the developing liver during the time when this connection is normally open; this normally closes during develpment to adulthood MP:0013843 hepatic portal vein stenosis abnormal narrowing or constriction of the lumen of the hepatic portal vein MP:0013844 abnormal perichondrial ossification formation of bone in the perichondrium, which is normally cartilaginous MP:0013845 abnormal eye muscle topology abnormal position of eye muscles MP:0013846 retropharyngeal edema accumulation of watery or serous fluid in the retropharyngeal space MP:0013847 retropleural edema accumulation of watery or serous fluid in the retropleural space MP:0013848 subcutaneous edema accumulation of watery or serous fluid in the subcutaneous region below the skin MP:0013849 absent abducens nerve absence of the sixth cranial nerve, which originates in the abducens nucleus of the pons and sends motor fibers to the lateral rectus muscles of the eye MP:0013850 absent posterior commissure absence of the band of nerve fiber tracts that span the longitudinal fissure beneath the habenula of the pineal body and over the cerebral aqueduct, interconnecting the left and right pretectal regions and some midbrain nuclei MP:0013851 abnormal Wolffian duct topology aberrant postition of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male MP:0013852 abnormal Mullerian duct topology aberrant position of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina MP:0013853 abnormal hepatic portal vein formation aberrant formation of the wide short vein formed from the confluence of the superior mesenteric, inferior mesenteric and splenic veins, and then divides into the right and left branches which ramify with the liver MP:0013854 abnormal celiac artery morphology any structural anomaly of the short, thick trunk which arises from the front of the abdominal aorta immediately below the aortic opening in the diaphragm; it lies below the liver and on the upper border of the pancreas and branches into the left gastric, hepatic, and splenic arteries MP:0013855 absent celiac artery absence of the short, thick trunk which arises from the front of the abdominal aorta immediately below the aortic opening in the diaphragm MP:0013856 celiac artery compression increased pressure exerted on the celiac artery by the median arcuate ligament of the diaphragm MP:0013857 abnormal abdominal muscle morphology any structural anomaly of a muscle that is part of the abdomen MP:0013858 abnormal azygos vein topology abnormal position(s) of the unpaired vein which in humans arises from the right ascending lumbar vein or the vena cava, enters the thorax through the aortic orifice in the diaphragm, and terminates in the superior vena cava; unlike humans, mice have a single and left-sided azygos vein that develops from the paired embryonic cardinal venous system and drains most of the right and left thoracic walls into the left anterior vena cava MP:0013859 abnormal vitelline vein connection aberrant or missing attachment of the paired veins that carry blood from the yolk sac back to the embryo MP:0013860 anastomosis between common carotid and vertebral artery abnormal communication between the common carotid and the vertebral artery by means of collateral channels, often occurring when the common carotid or the vertebral artery are obstructed MP:0013861 abnormal pancreas topology abnormal postion of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MP:0013862 abnormal cecum position abnormal placement of the large sac normally located at the ileum and large intestine junction MP:0013863 abnormal paraumbilical vein morphology any structural anomaly of one or more of small superficial veins that run from the umbilicus along the round ligament of the liver and terminate as accessory portal veins in the liver; these are susceptible to varicosity during portal hypertension MP:0013864 enlarged paraumbilical vein increased size of one or more of small superficial veins that run from the umbilicus along the round ligament of the liver and terminate as accessory portal veins in the liver MP:0013865 abnormal dorsal pancreas topology aberrant location or orientation of the transient embryonic structure that fuses with the ventral pancreas during development to form a single organ MP:0013866 abnormal dorsal pancreas morphology any structural anomaly of the transient embryonic structure that fuses with the ventral pancreas during development to form a single organ; the dorsal pancreatic bud gives rise to the body, tail, and isthmus of the pancreas MP:0013867 abnormal ventral pancreas morphology any structural anomaly of the transient embryonic structure that fuses with the dorsal pancreas during development to form a single organ; the ventral pancreatic bud gives rise to the pancreatic head and uncinate process MP:0013868 abnormal ventral pancreas topology abnormal location or orientation of the transient embryonic structure that fuses with the dorsal pancreas during development to form a single organ MP:0013869 vascular diverticulum a pouch or sac opening from the lumen of a vessel MP:0013870 absent proximal internal carotid artery segment MP:0013871 abnormal stapedial artery topology abnormal location or orientation of the small artery that passes through the ring of the stapes; while the stapedial artery is a temporary artery thought to disappear at late embryonic stage in humans, the mouse stapedial artery is complete by E13 and persists into adulthood MP:0013872 abnormal jugular vein morphology any structural anomaly of any of the veins that bring deoxygenated blood from the head back to the heart via the superior vena cava MP:0013873 abnormal ductus venosus morphology any structural anomaly of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein that allows oxygenated blood to bypass the developing liver during the time when this connection is normally open; this normally closes during develpment to adulthood MP:0013874 abnormal ductus venosus topology aberrant position or orientation of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein that allows oxygenated blood to bypass the developing liver during the time when this connection is normally open; this normally closes during develpment to adulthood MP:0013875 increased trigeminal neuroma incidence greater than the expected number of a tumor derived from cells of the trigeminal nerve occurring in a specific population in a given time period; trigeminal neuromas are rare tumors that may involve any part of the nerve complex, including peripheral divisions of the nerve MP:0013876 absent ductus venosus valve absence of the valve present on the right side of the ductus venosus at the site of the junction with the inferior vena cava MP:0013877 abnormal ductus venosus valve morphology any structural anomaly of the valve present on the right side of the ductus venosus at the site of the junction with the inferior vena cava MP:0013878 abnormal ductus venosus valve topology abnormal position of the valve present on the right side of the ductus venosus at the site of the junction with the inferior vena cava MP:0013879 duplication of ductus venosus duplication of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein that allows oxygenated blood to bypass the developing liver during the time when this connection is normally open; this normally closes during develpment to adulthood MP:0013880 absent ductus venosus absence of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein that allows oxygenated blood to bypass the developing liver during the time when this connection is normally open; this normally closes during development to adulthood MP:0013881 abnormal CD4-positive, CD25-positive NK T cell number anomaly in the number of CD4-positive NK T cells expressing the activation marker CD25 MP:0013882 decreased CD4-positive, CD25-positive NK T cell number reduction in the number of CD4-positive NK T cells expressing the activation marker CD25 MP:0013883 increased CD4-positive, CD25-positive NK T cell number increase in the number of CD4-positive NK T cells expressing the activation marker CD25 MP:0013884 abnormal CD4-negative, CD25-positive NK T cell number anomaly in the number of CD4-negative NK T cells expressing the activation marker CD25 MP:0013885 decreased CD4-negative, CD25-positive NK T cell number reduction in the number of CD4-negative NK T cells expressing the activation marker CD25 MP:0013886 increased CD4-negative, CD25-positive NK T cell number increase in the number of CD4-negative NK T cells expressing the activation marker CD25 MP:0013887 abnormal T cell compartment anomaly in the distribution of subsets or occurrence of new subsets within the T cell compartment MP:0013888 abnormal CD8-positive, CD25-positive alpha-beta T cell number anomaly in the number of CD8-positive alpha-beta T cells expressing the activation marker CD25 MP:0013889 decreased CD8-positive, CD25-positive alpha-beta T cell number reduction in the number of CD8-positive alpha-beta T cells expressing the activation marker CD25 MP:0013890 increased CD8-positive, CD25-positive alpha-beta T cell number increase in the number of CD8-positive alpha-beta T cells expressing the activation marker CD25 MP:0013891 increased common myeloid progenitor cell number increased number of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages MP:0013892 increased common lymphocyte progenitor cell number increased number of a progenitor cell committed to the lymphoid lineage MP:0013893 decreased common lymphocyte progenitor cell number reduced number of a progenitor cell committed to the lymphoid lineage MP:0013894 abnormal behavioral response to amphetamine anomaly in the behavioral response induced by amphetamine such as induced hyperactivity or stereotypic behavior MP:0013895 abnormal eyelid cilium morphology any structural anomaly of the hairs that grow at the edge of the upper or lower eyelid; eyelashes protect the eye from debris and are sensitive to touch, thus providing a warning that an object is near the eye (which is then closed reflexively) MP:0013896 abnormal eyelid cilium number anomaly in the number of the hairs that grow at the edge of the upper or lower eyelid MP:0013897 decreased eyelid cilium number reduction in the number of the hairs that grow at the edge of the upper or lower eyelid MP:0013898 short eyelid cilia decreased length of any of the hairs that grow at the edge of the upper or lower eyelid MP:0013899 abnormal seminal vesicle epithelium morphology any structural anomaly of the pseudostratified columnar epithelium that lines the seminal vesicles and consists of tall, non-ciliated columnar cells and short, rounded basal cells that rest on the basal lamina; polarized columnar cells show features typical of secretory epithelium, including a well-developed Golgi complex, abundant rough endoplasmic reticulum, numerous mitochondria, and apical secretory vesicles; basal cells are the stem cells from which the columnar cells are derived MP:0013900 seminal vesicle epithelium degeneration a retrogressive impairment of function or destruction of the pseudostratified columnar epithelium that lines the seminal vesicles MP:0013901 absent female preputial gland absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attractivity; unlike other sebaceous glands, they undergo progressive atrophy of the glandular portion with marked ductal ectasia as rodents age; there is no true anatomical equivalent in humans MP:0013902 abnormal seminal vesicle physiology any functional anomaly of the sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system; seminal vesicles secrete a whitish yellow alkaline fluid that constitutes 60-70 percent of the ejaculate in humans; seminal vesicle fluid secretion is androgen-dependent, fructose-rich, and important for semen coagulation, sperm motility, and stability of sperm chromatin and suppression of the immune activity in the female reproductive tract MP:0013903 abnormal seminal vesicle fluid composition any alteration in the expected chemical makeup or appearance of the whitish yellow alkaline fluid secreted by the seminal vesicles that constitutes 60-70 percent of the ejaculate in humans; the secretory product of the columnar epithelial cell, which may be seen in the lumen of seminal vesicles, is strongly acidophilic; it contains large amounts of fructose (used by spermatozoa as an energy source for motility) in addition to water, K+ ions, phosphorylcholine, prostaglandins, flavins, citrate, ascorbic acid, and several amino acids and enzymes; seminal vesicle fluid is responsible for coagulation of the ejaculate, can alter sperm motility and capacitation, and acts as an immunosuppressant in the female reproductive tract MP:0013904 abnormal seminal vesicle muscle layer morphology any structural anomaly of the thick muscular layer of the seminal vesicle consisting of an inner circular and outer longitudinal layer of smooth muscle which contracts during the emission phase of ejaculation to expel seminal vesicle fluid into the prostatic urethra MP:0013905 preputial gland inflammation local accumulation of fluid, plasma proteins, and leukocytes in any of the paired, lobulated, modified sebaceous glands located in the inguinal region adjacent to the penis and vagina, with pheromonal functions in male rodents; in males, the preputial gland empties into the preputial cavity and in females, the preputial (aka clitoral) gland duct empties into the clitoral fossa MP:0013906 absent embryonic telencephalon absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops MP:0013907 abnormal cerebrospinal fluid flow any anomaly in the dynamic process by which CSF circulates from the sites of secretion to the sites of absorption according to a unidirectional rostrocaudal flow in ventricular cavities and a multidirectional flow in subarachnoid spaces; CSF produced by the choroid plexuses in the lateral ventricles travels through interventricular foramina to the third ventricle, and then the fourth ventricle via the cerebral aqueduct and finally to the subarachnoid spaces via the median aperture (foramen of Magendie) of the fourth ventricle; in the cranial subarachnoid space, CSF circulates rostrally to the villous sites of absorption or caudally to the spinal subarachnoid space; CSF circulation through the ventricular system is driven by motile cilia on ependymal cells of the brain; CSF flow is pulsatile, corresponding to the systolic pulse wave in choroidal arteries; additional factors such as respiratory waves, the subject's posture, jugular venous pressure and physical effort also modulate CSF flow dynamics and pressure MP:0013908 small lateral ventricles decreased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle MP:0013909 small third ventricle decreased size of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina MP:0013910 small fourth ventricle decreased size of the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space MP:0013911 fused vestibular saccule and utricle union of the saccule and utricle of the inner ear vestibule into one structure MP:0013912 obsolete abnormal circardian rhythm entrainment anomaly in the synchronization of a circadian rhythm to environmental time cues such as light MP:0013913 absent costovertebral joint one or more ribs are not connected to vertebra, where this connection is normally made MP:0013914 absent intracranial segment of vertebral artery absence of a segment of a vertebral artery when the absent segment would normally be located inside the skull MP:0013915 abnormal brachial plexus formation abnormal formation of the arrangement of nerve fibers, running from the spine, formed by the ventral rami of the lower cervical and upper thoracic nerve root, specifically from below the fifth cervical vertebra to above the first thoracic vertebra MP:0013916 decreased intestine length reduced length of the digestive tube passing from the stomach to the anus, consisting of the small and large intestine divisions MP:0013917 persistent right 6th pharyngeal arch artery failure of right 6th pharyngeal arch artery regression MP:0013918 abnormal endolymphatic sac topology abnormal position of the dilated blind extremity of the endolymphatic duct, which lies external to the dura on the posterior aspect of the petrous part of the temporal bone MP:0013919 abnormal response to electrical stimuli ny deviation from the expected reflex action normally induced by an electrical stimulus MP:0013920 hyperresponsive to electrical stimuli lower threshold to exhibit an expected reflex action normally induced by an electrical stimulus MP:0013921 hyporesponsive to electrical stimuli higher threshold to exhibit an expected reflex action normally induced by an electrical stimulus MP:0013922 unresponsive to electrical stimuli inability to exhibit an expected reflex action normally induced by an electrical stimulus MP:0013923 small prevertebral sympathetic ganglia decreased size of the sympathetic ganglia located in front of the vertebral column and are associated with the major branches of the abdominal aorta; these include the celiac, aorticorenal, superior and inferior mesenteric ganglia MP:0013924 abnormal dural venous sinus morphology any structural anomaly of the endothelium-lined venous channels in the dura mater MP:0013925 abnormal vascular plexus formation any anomaly in the development of a vascular network formed by frequent anastomoses between the blood vessels MP:0013926 absent neurohypophysis absence of the posterior lobe of the pituitary gland MP:0013927 abnormal facial nerve topology abnormal position of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue MP:0013928 thin motoric part of trigeminal nerve slender appearance of the portion of the trigeminal nerve containing motor fibers, motor fibers are only found in the mandibular branch of the trigeminal nerve and derive from the basal plate of the embryonic pons MP:0013929 absent eye muscles absence of the muscles of the eye MP:0013930 abnormal digastric muscle connection any anomaly in the attachment of the digastric muscles MP:0013931 abnormal olfactory bulb position anomaly in the location or orientation of the olfactory bulb MP:0013932 fragmented Meckel's cartilage the Meckel's carilage is broken into separate pieces MP:0013933 short Meckel's cartilage length reduction or truncation of the cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible and gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments MP:0013934 supratentorial ventricles enlargement increase in size of the ventricles located above the tentorium cerebelli in the cerebrum MP:0013935 basal brain tissue herniation protrusion of the tissue from the base of the brain through rigid dural folds or the skull MP:0013936 abnormal thymus topology abnormal position of the primary lymphoid organ that is required for maturation of T cells and secretion of thymosins, hormones that stimulate the development of antibodies MP:0013937 absent lobe of thyroid gland absence of one or more of the conical shaped sections of the thyroid gland MP:0013938 abnormal esophagus topology abnormal position of the part of the digestive canal through which food passes from the pharynx to the stomach MP:0013939 abnormal plasmablast morphology any structural anomaly of an activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative MP:0013940 abnormal plasmablast number anomaly in the number of an activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative MP:0013941 abnormal enthesis morphology any structural anomaly of the connective tissue between tendon and bone insertion sites; the area which acts to transmit tensile load from soft tissues to bone; they may be of the dense fibrous connective tissue or fibrocartilage type; fibrous entheses attach directly to bone or periosteum primarily via fibrous tissue, and fibrocartilaginous entheses attach to bone through a transitional layer of fibrocartilage from the fibrous tendon tissue MP:0013942 enthesitis inflammation of the entheses, the sites where tendons or ligaments insert into the bone; the entheses are any point of attachment of skeletal muscles to the bone, where recurring stress or inflammatory autoimmune disease can cause inflammation or occasionally fibrosis and calcification MP:0013943 abnormal ureter topology abnormal position of the tube that conducts the urine from the renal pelvis to the bladder MP:0013944 persistent cloacal membrane failure of the cloacal membrane proper to rupture and regress during development MP:0013945 abnormal elbow joint morphology any structural anomaly of the joint that connects the forelimb zeugopod and stylopod skeletons MP:0013946 abnormal perirectal tissue morphology any structural anomaly of the tissue(s) surrounding the rectum MP:0013947 abnormal paraaortic body morphology any structural anomaly of the chromaffin paraganglion located at the bifurcation of the aorta or at the origin of the inferior mesenteric artery MP:0013948 intraembryonal intestine elongation MP:0013949 fusion of axis and occipital bones union of elements of the second cervical vertebra (axis, C2) and the bone at the lower, posterior part of the skull into one structure MP:0013950 abnormal dorsal root ganglion topology abnormal position of the dorsal root ganglion in relation to other structures MP:0013951 abnormal descending aorta topology abnormal position of the descending aorta in relation to other structures MP:0013952 retroesophageal left subclavian artery the left subclavian artery arises from the descending portion of the aortic arch, crossing over to the left upper extremity behind the esophagus MP:0013953 left sided brachiocephalic trunk the brachiocephalic trunk arises on the left side of the body, often seen in conjunction with right aortic arch MP:0013954 increased intestine length increased length of the digestive tube passing from the stomach to the anus, consisting of the small and large intestine divisions MP:0013955 increased colon length increased length of the portion of the large intestine between the cecum and the rectum MP:0013956 decreased colon length reduced length of the portion of the large intestine between the cecum and the rectum MP:0013957 increased small intestine length increased length of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum MP:0013958 decreased small intestine length reduced length of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum MP:0013959 increased large intestine length increased length of the portion of the digestive tube extending from the ileocecal valve to the anus, consisting of the cecum, colon, rectum and anal canal MP:0013960 decreased large intestine length reduced length of the portion of the digestive tube extending from the ileocecal valve to the anus, consisting of the cecum, colon, rectum and anal canal MP:0013961 abnormal Hensen stripe morphology any structural anomaly of the dark, nonstriated, V-shaped band (ridge) found on the underside of the tectorial membrane (TM) in the basal region of the cochlea, from which fine gelatinous trabeculae extend to fix the TM to the border cells, i.e. cells directly adjacent to the inner phalangeal cells; Hensen's stripe is continuous with a more external homogeneous basal layer, from which a marginal band of an amorphous substance originates; the marginal net extends from the marginal band and attaches the lateral border of the TM to Hensen's cells of the organ of Corti. Hensen's stripe and the homogeneous basal layers display interruptions through which the fibrillar structure of the TM is visible MP:0013962 absent Hensen stripe absence of the dark, nonstriated, V-shaped band (ridge) that is normally found on the underside of the tectorial membrane (TM) in the basal region of the cochlea, from which fine gelatinous trabeculae extend to fix the TM to the border cells, i.e. cells directly adjacent to the inner phalangeal cells MP:0013963 jugular vein stenosis abnormal narrowing or constriction of any of the veins that bring deoxygenated blood from the head back to the heart via the superior vena cava MP:0013964 absent tongue muscles absence of any or all of the extrinsinc or intrinsic muscles of the tongue MP:0013965 abnormally deep median sulcus of tongue increased depth of the median groove that extends from the tip of the tongue to the foramen cecum and divides the dorsum of the tongue into right and left halves MP:0013966 abnormal infrahyoid muscle morphology any structural anomaly of any of the four paired muscles located in the anterior neck below the hyoid bone, within the muscular triangle; these muscles are long and flat in shape, similar to a belt or strap, and are responsible for depressing the hyoid during swallowing; they either originate from or insert on to the hyoid bone and include the sternohyoid, sternothyroid, thyrohyoid and omohyoid muscles MP:0013967 abnormal infrahyoid muscle connection any anomaly in the attachment of the infrahyoid muscle MP:0013968 multiple persisting craniopharyngeal ducts presence of multiple openings in midline sphenoid body from the sellar floor to the nasopharynx MP:0013969 reduced sympathetic cervical ganglion size decreased size of one or more of the 3 paravertebral sympathetic ganglia, the superior, middle, and inferior cervical ganglia that provide sympathetic innervation to the smooth muscle, glands, and mucosa of the head MP:0013970 absent connection between subcutaneous lymph vessels and lymph sac absence of the attachment or communication between the subcutaneous lymph vessels and lymph sacs MP:0013971 blood in lymph vessels abnormal presence of constituents of blood not normally found in lymph vessels MP:0013972 occipital vertebra rare anatomical variants resulting from incomplete or aberrant fusion of occipital bone ossification centers; most common occipital vertebrae variations include third condyle (condylus tertius), basilar process, paracondylar process and prebasioccipital arch MP:0013973 abnormal hepatic vein connection any anomaly in the attachment of the hepatic vein to other vessels MP:0013974 abnormal coronary vein connection any anomaly in the attachment of the coronary vein to other vessels MP:0013975 abnormal coronary sinus connection any anomaly in the attachment of the coronary sinus to the cardiac veins or heart MP:0013976 abnormal left vena cava superior connection any anomaly in the connection formed by the left common cardinal vein and the left superior cardinal vein; this connection usually regresses during development MP:0013977 symmetric azygos veins presence of a pair of similar caliber azygos veins on the left and right sides MP:0013978 abnormal carotid artery origin any anomaly in the location from which the carotid artery arises MP:0013979 abnormal subclavian artery origin any anomaly in the location from which the subclavian artery arises MP:0013980 abnormal pulmonary artery origin any anomaly in the location from which the pulmonary artery arises MP:0013981 double lumen aortic arch interuption of the 4th aortic arch and persistence of the 5th arch resulting in the presence of two lumens MP:0013982 inverse situs of great intrathoracic arteries anomaly in the asymmetry of the large arteries of the thoracic region (aorta, pulmonary arteries, common carotid arteries, subclavian arteries) such that these structures on both the left and right side have the morphology normally seen on the opposite side of the body MP:0013983 abnormal superior mesenteric vein morphology any structural anomaly of the blood vessel that drains blood from the small intestine, it combines with the splenic vein to form the hepatic portal vein MP:0013984 abnormal superior mesenterial vein connection MP:0013985 abnormal umbilical vein topology abnormal position of the umbilical vein in relationship to other umbilical cord structures MP:0013986 abnormal vitelline vein topology abnormal position of the paired veins that carry blood from the yolk sac back to the embryo MP:0013987 absent intrahepatic inferior vena cava segment absence of the portion of the of inferior vena cava that connects to the hepatic veins MP:0013988 absent portal vein segment absence of part but not all of the portal vein MP:0013989 symmetric hepatic veins MP:0013990 abnormal common iliac artery morphology any structural anomaly of the two large arteries that originate from the aortic bifurcation of the abdomainal aorta; the right and left common iliac arteries run along each side of the body towards the edges of the pelvis, where they each split again into internal and external iliac arteries at the pelvic inlet MP:0013991 abnormal common iliac artery origin any anomaly in the location from which the common iliac arteries arise; normally, these two large arteries originate from the aortic bifurcation of the abdomainal aorta MP:0013992 persistent dorsal ophthalmic artery the artery originates from the cavernous segment of the internal carotid artery and enters the orbit via the superior orbital fissure MP:0013993 anastomosis between basilar artery and common carotid artery any anomalous cross-connection between the basilar artery and the common carotid artery MP:0013994 abnormal parasellar internal carotid artery branch morphology any structural anomaly of the branches of the segment of the internal carotid artery located in region in the brain next to the hollow in the skull bone that contains the pituitary gland running from the superomedial petrous apex to the proximal dural ring MP:0013995 abnormal external carotid artery origin any anomaly in the location from which the external carotid artery arises MP:0013996 abnormal vertebral artery origin any anomaly in the location from which the vertebral artery arises; each vertebral artery usually arises from the supraposterior aspect of the first part of the subclavian artery MP:0013997 abnormal internal carotid artery topology abnormal position of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes MP:0013998 absent canalicular internal carotid artery segment absence of the segment of the internal carotid artery that passes through the carotid canal MP:0013999 absent parasellar internal carotid artery absence of the segment of the internal carotid artery located in region in the brain next to the hollow in the skull bone that contains the pituitary gland running from the superomedial petrous apex to the proximal dural ring MP:0014000 anastomosis between internal carotid artery and basilar artery any anomalous cross-connection between the basilar artery and the internal carotid artery MP:0014001 abnormal vertebral artery topology abnormal position of the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck MP:0014002 absent extracranial vertebral artery segment absence of a segment of a vertebral artery when the absent segment would normally be located outside the skull MP:0014003 additional anastomosis between intracranial vertebral arteries greater than the expected number of connections between the segments of the vertebral arteries located within the skull MP:0014004 absent basilar artery segment absence of a portion of the basilar artery MP:0014005 abnormal posterior communicating artery morphology any structural anomaly of one or both of the pair of right-sided and left-sided blood vessels in the circle of Willis that connect the three cerebral arteries of the same side MP:0014006 absent posterior communicating artery missing the pair of right-sided and left-sided blood vessels in the circle of Willis that connect the three cerebral arteries of the same side MP:0014007 abnormal labyrinthine artery morphology any structural anomaly of the long slender branch of the anterior inferior cerebellar artery (85%-100% cases) or basilar artery (<15% cases) that arises from near the middle of the artery; it accompanies the vestibulocochlear nerve through the internal acoustic meatus, and is distributed to the internal ear MP:0014008 absent labyrinthine artery missing the long slender branch of the anterior inferior cerebellar artery (85%-100% cases) or basilar artery (<15% cases) that arises from near the middle of the artery MP:0014009 anastomosis between middle cerebral arteries any anomalous cross-connection between the middle cerebral arteries MP:0014010 abnormal peroxisome morphology any structural anomaly of a small cytoplasmic organelle enclosed by a single membrane that contains peroxidases and other enzymes which are important for a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism MP:0014011 abnormal ovary tissue architecture any anomaly in the texture of the ovarian tissue MP:0014012 abnormal cranial blood vasculature morphology any structural anomaly of blood vasculature that is part of a head MP:0014013 abnormal cerebellar artery morphology any structural artery of an artery that supplies blood to the cerebellum MP:0014014 abnormal anterior inferior cerebellar artery morphology any structural anomaly of a basilar artery branch that supplies the anterior portion of the inferior surface of the cerebellum MP:0014015 abnormal superior cerebellar artery morphology any structural anomaly of the artery that arises near the termination of the basilar artery and passes lateralward immediately below the oculomotor nerve arriving at the upper surface of the cerebellum where it divides into branches which ramify in the pia mater and anastomose with those of the inferior cerebellar arteries MP:0014016 abnormal circle of Willis morphology any structural anomaly of the circle of arteries that supply blood to the brain MP:0014017 abnormal Wolffian duct connection aberrant attachment or incomplete connection of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) to the cloaca MP:0014018 embryo tumor presence of an unspecified tumor or aberrant growth in a prenatal organism MP:0014019 embryo cyst presence of one or more abnormal membranous sacs in any portion of embryonic tissue MP:0014020 intramural bleeding in blood vessel wall leakage of blood through the innermost layer of the blood vessel and flowing between the inner and outer vessel walls MP:0014021 heterochrony a developmental change in the timing or rate of events resulting in changes in size or shape to a tissue or anatomical part MP:0014022 abnormal duodenum topology abnormal position of the first division of the small intestine that extends from the pyloris to the junction with the jejunum MP:0014023 abnormal intestine placement different location or arrangement of the digestive tube passing from the stomach to the anus MP:0014024 increased subchondral bone mineral content increased amount (usually in grams/cm) of bone mineral divided by a bone-scanned area in the bone region of the epiphysis that provides underlying mechanical and physiological support for the cartilage of joint articular surfaces MP:0014025 decreased subchondral bone mineral content decreased amount (usually in grams/cm) of bone mineral divided by a bone-scanned area in the bone region of the epiphysis that provides underlying mechanical and physiological support for the cartilage of joint articular surfaces MP:0014026 abnormal respiratory epithelial transmembrane transport any anomaly in the directed movement of a substance from one side of the respiratory epithelial cell membrane to the other MP:0014027 abnormal respiratory epithelial chloride transmembrane transport any anomaly in the directed movement of a chloride from one side of the respiratory epithelial cell membrane to the other MP:0014028 decreased respiratory epithelial chloride transmembrane transport decrease in the directed movement of a chloride from one side of the respiratory epithelial cell membrane to the other MP:0014029 increased respiratory epithelial chloride transmembrane transport increase in the directed movement of a chloride from one side of the respiratory epithelial cell membrane to the other MP:0014030 abnormal mucous gland physiology any functional anomaly of any exocrine gland in which the principal secretory cells are mucus-secreting cells; mucus is a slippery secretion with lubricating or protective function produced by, and covering, mucous membranes; mucous fluid is typically produced from cells found in mucous glands, but may also originate from mixed glands, which contain both serous and mucous cells; mucous cells secrete products that are rich in glycoproteins and water; mucus is a viscous colloid containing antiseptic enzymes (such as lysozyme), immunoglobulins, inorganic salts, proteins such as lactoferrin, and glycoproteins known as mucins that are produced by goblet cells in the mucous membranes and submucosal glands MP:0014031 abnormal submucosal gland physiology any functional anomaly of the mucous-secreting glands located in the dense irregular connective tissue that lines organs and supports the mucosal membrane MP:0014032 abnormal mucous gland morphology any structural anomaly of any exocrine gland in which the principal secretory cells are mucus-secreting cells; mucus is a slippery secretion with lubricating or protective function produced by, and covering, mucous membranes; mucous glands typically stain lighter than serous glands during standard histological preparation; most are multicellular, but goblet cells are single-celled glands MP:0014033 abnormal submucosal gland morphology any structural anomaly of the mucous-secreting glands located in the dense irregular connective tissue that lines organs and supports the mucosal membrane MP:0014034 abnormal submucosal gland secretion any anomaly in the secretion of mucous and other substances from a submucosal gland MP:0014035 decreased submucosal gland secretion a reduction in the rate or amount of secretion of mucous and other substances from a submucosal gland MP:0014036 meconium ileus obstruction of the intestine due to abnormally thick meconium in the fetus and neonate MP:0014037 stranguria difficulty in micturition in which the urine is passed intermittently or drop by drop, and is associated with pain and tenesmus MP:0014038 increased hepatocyte number greater than normal number of parenchymal liver cells MP:0014039 abnormal sheltering behavior deviation from the usual behavior of visiting a shelter or nest used for resting/sleeping MP:0014040 increased cellular sensitivity to DNA damaging agents greater incidence of cell death following exposure to agents that cause DNA damage MP:0014041 increased cellular sensitivity to cisplatin greater incidence of cell death following exposure to cisplatin MP:0014042 decreased cellular sensitivity to DNA damaging agents reduced incidence of cell death following exposure to agents that cause DNA damage MP:0014043 decreased cellular sensitivity to cisplatin reduced incidence of cell death following exposure to cisplatin MP:0014044 absent cardiac outflow tract absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions MP:0014045 Mallory bodies stereotypical manifestations of hepatocyte injury that present as cytoplasmic inclusion bodies consisting of intermediate filament components (e.g., modified cytokeratins, chaperones and protein degradation machinery) MP:0014046 abnormal mitophagy any anomaly in the autophagic process in which mitochondria are delivered to the vacuole and degraded in response to changing cellular conditions MP:0014047 abnormal gut-associated lymphoid tissue physiology any functional anomaly of the regional immune system located in the gut MP:0014048 abnormal Peyer's patch physiology any functional anomaly of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles MP:0014049 increased T cell acute lymphoblastic leukemia incidence an aggressive (fast-growing) type of leukemia (blood cancer) in which too many T-cell lymphoblasts (immature white blood cells) are found in the bone marrow and blood MP:0014050 increased B cell acute lymphoblastic leukemia incidence an aggressive (fast-growing) type of leukemia (blood cancer) in which too many B-cell lymphoblasts (immature white blood cells) are found in the bone marrow and blood; it is the most common type of acute lymphoblastic leukemia (ALL) MP:0014051 abnormal maxillary-premaxillary suture morphology any structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla) MP:0014052 increased male germ cell apoptosis increase in the number of male germ cells undergoing programmed cell death MP:0014053 dry hair hair characterized by the lack of natural or normal moisture MP:0014054 abnormal sebocyte physiology any functional anomaly of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation (holocrine secretion); these cells are most commonly found in the skin in association with hair follicles (forming the pilosebaceous unit), where they arise from hair follicle keratinocytes, but there are also sebaceous glands not associated with a hair follicle; the latter have special functions as secretion of pheromones or corneal protection MP:0014055 abnormal sebocyte proliferation any anomaly in the expansion rate of sebocytes by cell division MP:0014056 increased sebocyte proliferation increase in the expansion rate of sebocytes by cell division MP:0014057 abnormal mammary gland stroma morphology any structural anomaly of the complex non-epithelial mammary gland tissue composed of fibrous connective tissue extracellular matrix (ECM) proteins, and a wide variety of cell types, including inter- and intralobular fibroblasts, adipocytes, endothelial cells, and innate immune cells (both macrophages and mast cells); the mammary gland stroma is the support network for the epithelium, providing both nutrients and blood supply, and immune defenses, as well as physical structure to the gland; each of the different stromal cell types secrete instructive signals that are crucial for various aspects of the development and function of the epithelium MP:0014058 abnormal mammary gland stroma physiology any functional anomaly of the complex non-epithelial mammary gland tissue composed of fibrous connective tissue extracellular matrix (ECM) proteins, and a wide variety of cell types, including inter- and intralobular fibroblasts, adipocytes, endothelial cells, and innate immune cells (both macrophages and mast cells); the mammary gland stroma is the support network for the epithelium, providing both nutrients and blood supply, and immune defenses, as well as physical structure to the gland; each of the different stromal cell types secrete instructive signals that are crucial for various aspects of the development and function of the epithelium MP:0014059 abnormal photoreceptor connecting cilium morphology any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments MP:0014060 abnormal platelet alpha-granule morphology any structural anomaly of the most abundant secretory organelle found in blood platelets, and which store adhesive molecules such as von Willebrand factor and fibrinogen, growth factors and inflammatory and angiogenic mediators, which play crucial roles in inflammatory responses and tumor genesis MP:0014061 ethmocephaly the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain; ethmocephaly presents with a proboscis situated above hypoteloric orbits in the midline, microphthalmos, absent nasal structures (arrhinia) and lowset malformed ears MP:0014062 nervous system inclusion bodies nuclear or cytoplasmic aggregates of stainable substances within cells of the nervous system MP:0014063 Lafora bodies abnormal presence of insoluble periodic acid-Schiff-positive deposits that contain polyglucosan, a poorly branched form of glycogen, seen in familial myoclonic epilepsy; Lafora bodies develop in many tissues, including muscle, liver, and neurons, but it is generally believed that Lafora body accumulation ultimately leads to neuronal cell death MP:0014064 argyrophilic inclusion bodies presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue MP:0014065 Lewy bodies Intracytoplasmic eosinophilic neuronal inclusions seen especially in pigmented brainstem neurons and in the cortex; brainstem Lewy bodies consist of a dense core surrounded by a halo of 10-nm-wide radiating fibrils, the primary structural component of which is alpha-synuclein; cortical Lewy bodies are also composed of alpha-synuclein fibrils, but are less defined and lack halos; Lewy bodies are seen in Parkinson disease, Lewy body dementia and other forms of dementia MP:0014066 Rosenthal fibers thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders MP:0014067 Hirano bodies eosinophilic intracytoplasmic inclusions which have a highly characteristic crystalloid fine structure; these inclusions occur predominantly in the neuronal processes of the CA1 area in Ammon's horn but have been noted in other areas of the nervous system; these bodies contain epitopes of actin, actin-associated proteins, tau, middle molecular weight neurofilaments subunit and a C-terminal fragment of beta-amyloid precursor protein; these inclusions have been observed in amyotrophic lateral sclerosis and parkinsonism-dementia complex on Guam, Alzheimer's disease, Pick's disease and 'normal' elderly individuals and animal models MP:0014068 abnormal muscle glycogen level any anomaly in the concentration of a readily converted carbohydrate reserve in any muscle tissue MP:0014069 abnormal skeletal muscle glycogen level any anomaly in the normal concentration of a readily converted carbohydrate reserve in skeletal muscle tissue MP:0014070 abnormal cardiac muscle glycogen level any anomaly in the concentration of a readily converted carbohydrate reserve in heart muscle MP:0014071 increased cardiac muscle glycogen level greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle MP:0014072 decreased cardiac muscle glycogen level less than the normal concentration of a readily converted carbohydrate reserve in heart muscle MP:0014073 abnormal brain glycogen level any anomaly in the concentration of a readily converted carbohydrate reserve in brain MP:0014074 increased brain glycogen level greater than the normal concentration of a readily converted carbohydrate reserve in brain MP:0014075 decreased brain glycogen level less than the normal concentration of a readily converted carbohydrate reserve in brain MP:0014076 absent Paneth cells absence or loss of the large secretory cells containing coarse granules normally confined to the base of the crypts of Lieberkuhn in the small intestine MP:0014077 ectopic Paneth cells abnormal position of the large secretory cells containing coarse granules normally confined to the base of the crypts of Lieberkuhn in the small intestine MP:0014078 small intestinal villus atrophy erosion or abnormal flattening of the surface secondary to the shortening and blunting of the small intestinal villi; villus atrophy is a non-specific reaction of the intestinal mucosa to a variety of injuries; the pathogenesis is either associated with a hyper-regenerative increase in crypt cell mitoses leading to crypt elongation or it results from hyporegeneration, that is, reduced mitotic rate with shortened crypts MP:0014079 decreased small intestinal villus number fewer than normal numbers of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall MP:0014080 fused small intestinal villi partial or complete fusion of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall MP:0014081 branched small intestinal villi atypical formation of branched tree-like structures in the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; branching may occur in association with increased or ectopic epithelial proliferation MP:0014082 decreased small intestinal villus height decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hyperplasia MP:0014083 blunted small intestinal villi abnormal flattening of the surface of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually due to intestinal damage or injury MP:0014084 clubbed small intestinal villi club-shaped small intestinal villi with tips broader than the base; usually accompanied by cytoplasmic swelling and vacuolization MP:0014085 stomach non-glandular epithelium hyperkeratosis abnormal thickening of the stratum corneum in the stratified squamous epithelium lining the distinct rodent non-glandular region of the stomach, i.e. the forestomach (aka anterior or proximal stomach); hyperkeratosis frequently accompanies epithelial hyperplasia MP:0014086 obsolete hemangioma OBSOLETE. a benign tumor characterized by blood-filled spaces lined by benign endothelial cells MP:0014087 retrolental blood presence of blood behind the lens MP:0014088 abnormal Kimura membrane morphology any structural anomaly of the thickening of the lower surface of the tectorial membrane into which the hair bundles of the outer hair cells are imbedded MP:0014089 abnormal tectorial membrane marginal band morphology any structural anomaly of the dense thickening of the lateral edge of the tectorial membrane MP:0014090 abnormal tectorial membrane covernet morphology any structural anomaly of the anastomosing network of large caliber fibrils that run predominantly longitudinally over the upper surface of the tectorial membrane; in mice, the covernet fibrils are continuous with the underlying striated-sheet matrix of the TM, and appear as electron-dense rods that can be a micron or more in diameter MP:0014091 abnormal tectorial membrane striated-sheet matrix morphology any structural anomaly of the laminated, striated-sheet matrix within which collagen fibrils of the TM are imbedded; the striated sheet matrix is formed by two types of fine-diameter collagen filaments, a light and a dark staining type that lie in parallel within the plane of each sheet and are extensively linked along their length by staggered cross bridges; it originates medially within the sulcal zone, extends to the marginal band and is particularly evident in apical regions of the cochlea, where it has a less compressed appearance MP:0014092 abnormal pancreatic primary cilium morphology any structural anomaly of the nonmotile primary cilia that assemble in the normal duct, islet, and centroacinar cells of the pancreas and function in sensing and signal transduction MP:0014093 decreased pancreatic primary cilium length reduced length of the nonmotile primary cilia that are found in the normal duct, islet, and centroacinar cells of the pancreas and function in sensing and signal transduction MP:0014094 decreased pancreatic primary cilium number reduced number of the nonmotile primary cilia that are found in the normal duct, islet, and centroacinar cells of the pancreas and function in sensing and signal transduction MP:0014095 decreased pancreatic acinar cell zymogen granule number fewer than the expected number of membrane-bounded, cytoplasmic secretory granules found in pancreatic acinar cells that contain inactive digestive enzyme precursors MP:0014096 abnormal pancreatic amylase secretion anomaly in the production and/or release of alpha-amylase, the main starch digesting enzyme component of pancreatic juice, from the acinar cells of the exocrine pancreas; pancreatic alpha-amylase is released into pancreatic ducts in its active form and acts at random locations along the starch chain to break down long-chain carbohydrates, ultimately yielding maltotriose and maltose from amylose, or maltose, glucose and limit dextrin from amylopectin MP:0014097 increased pancreatic amylase secretion greater production and/or release of alpha-amylase, the main starch digesting enzyme component of pancreatic juice, from the acinar cells of the exocrine pancreas; pancreatic alpha-amylase is released into pancreatic ducts in its active form and acts at random locations along the starch chain to break down long-chain carbohydrates, ultimately yielding maltotriose and maltose from amylose, or maltose, glucose and limit dextrin from amylopectin MP:0014098 decreased pancreatic amylase secretion reduction in the production and/or release of alpha-amylase, the main starch digesting enzyme component of pancreatic juice, from the acinar cells of the exocrine pancreas; pancreatic alpha-amylase is released into pancreatic ducts in its active form and acts at random locations along the starch chain to break down long-chain carbohydrates, ultimately yielding maltotriose and maltose from amylose, or maltose, glucose and limit dextrin from amylopectin MP:0014099 abnormal chondrocyte proliferation any anomaly in multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population MP:0014100 increased chondrocyte proliferation increased amount of multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population MP:0014101 decreased chondrocyte proliferation decreased amount of multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population MP:0014102 abnormal chondrocyte apoptosis change in the timing or the number of chondrocytes undergoing programmed cell death MP:0014103 increased chondrocyte apoptosis increased number of chondrocytes undergoing programmed cell death MP:0014104 decreased chondrocyte apoptosis reduced number of chondrocytes undergoing programmed cell death MP:0014105 abnormal chondrocyte differentiation any anomaly in the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte MP:0014106 delayed chondrocyte differentiation delay in the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte MP:0014107 premature chondrocyte differentiation early occurance of the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte MP:0014108 calcified pancreas pathologic deposition of calcium salts in the pancreas; commonly seen in chronic pancreatitis MP:0014109 increased pancreatic alpha cell proliferation increase in the ability of the glucagon-producing cells of the islets of Langerhans in the endocrine pancreas to undergo expansion by cell division MP:0014110 absent ventral pancreas absence of the transient embryonic structure that fuses with the dorsal pancreas during development to form a single organ; the ventral pancreatic bud gives rise to the pancreatic head and uncinate process MP:0014111 small ventral pancreas reduced size of the transient embryonic structure that fuses with the dorsal pancreas during development to form a single organ; the ventral pancreatic bud gives rise to the pancreatic head and uncinate process MP:0014112 absent dorsal pancreas absence of the transient embryonic structure that fuses with the ventral pancreas during development to form a single organ; the dorsal pancreatic bud gives rise to the body, tail, and isthmus of the pancreas MP:0014113 small dorsal pancreas reduced size of the transient embryonic structure that fuses with the ventral pancreas during development to form a single organ; the dorsal pancreatic bud gives rise to the body, tail, and isthmus of the pancreas MP:0014114 abnormal cognition any anomaly in the operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory MP:0014115 cognitive inflexibility inability to change attention or a cognitive behavior as an adaptation to the demands of external stimuli MP:0014116 abnormal pancreatic beta cell apoptosis change in the timing or the number of pancreatic beta cells undergoing programmed cell death MP:0014117 increased pancreatic beta cell apoptosis increase in the number of pancreatic beta cells undergoing programmed cell death MP:0014118 decreased pancreatic beta cell apoptosis decrease in the number of pancreatic beta cells undergoing programmed cell death MP:0014119 abnormal mandibular nerve innervation pattern any changes in the placement, morphology or number of mandibular nerve fibers providing motor and sensory nerve supply from the auricle, the external acoustic meatus, tympanic membrane, temporal region, the cheek, the skin overlying the mandible, the anterior portion of the tongue, the floor of the mouth, lower teeth and gingiva and transmits motor information from the muscles of mastication, the mylohyoid muscle and digastric muscle and the muscles tensor tympani and tensor veli palatini MP:0014120 focal seizures seizures characterized by localized cerebral ictal onset MP:0014121 increased pancreatic islet cell apoptosis increase in the number of pancreatic islet cells undergoing programmed cell death MP:0014122 decreased pancreatic islet cell apoptosis decrease in the number of pancreatic islet cells undergoing programmed cell death MP:0014123 abnormal amylin secretion any anomaly in the production or release of the polypeptide hormone that is co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety agent MP:0014124 increased amylin secretion greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety agent MP:0014125 decreased amylin secretion reduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety agent MP:0014126 increased mammary gland apoptosis increase in the number of any cells of a mammary gland undergoing programmed cell death MP:0014127 increased thymoma incidence greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseases MP:0014128 increased Harderian gland adenocarcinoma incidence greater than the expected number of a malignant neoplasm of acinar epithelial cells in the Harderian gland, occurring in a specific population in a given time period; these usually are larger than adenomas and may cause facial selling and/or exophthalmos; they are highly cellular and disorganized compared to adenomas, with piling up of pleomorphic cells; areas of medullary or solid growth patterns are common; there may necrosis or hemorrhage, invasion beyond the orbit, and distant metastasis to the lungs, local lymph nodes, thymus or liver MP:0014129 thymus fibrosis invasion of fibrous connective tissue into the thymus, often resulting from inflammation or injury MP:0014130 thymus cyst presence of one or more fluid-filled spaces lined by epithelium within the thymus MP:0014131 abnormal tear film morphology any alteration in the structure, biochemical composition, or stability of the thin acellular fluid layer that adheres to the most superficial layer of the corneal epithelium and lubricates and protects the ocular surface; the film is generally composed of three layers: (i) an inner mucous layer, secreted largely by the conjunctival goblet cells with contributions from the lacrimal glands, which coats the cornea, provides a hydrophobic layer, and allows for even distribution of the tear film; (ii) a middle aqueous layer, secreted by the lacrimal glands, which keeps the corneal surface moist, and provides a mechanism for oxygenation and nutrient exchange with the avascular anterior corneal tissue; and (iii) an outer lipid layer, secreted principally by the Meibomian (tarsal) glands although lipid tear elements also are contributed by the Harderian glands; tear film lipids form a monolayer on the tear surface, and function by enhancing the surface tension which supports the integrity of the tear film against collapse due to gravity and also slows down the loss of the tear film by evaporation; in addition , the lipid layer provides a glassy, smooth interface between the air and the transparent cornea MP:0014132 abnormal tear film physiology any functional anomaly of the thin acelullar fluid layer that covers the anterior surface of the mammalian eye and has a variety of constituents that are essential for the maintenance of the avascular transparent corneal epithelium; this film keeps the cornea wet, thus allowing gas exchange between the air and the epithelium, it cleans debris from the transparent surface, providing a clear optical path to the retina, and protects the ocular surface from invasion by bacteria and viruses; the tear film also provides essential metabolites such as retinol, which serves to preserve the transparent nature of the epithelium MP:0014133 obsolete abnormal Pavlovian conditioned approach any anomaly in propensity to attribute motivational properties to stimuli which predict reward; critical component of drug addition MP:0014134 abnormal embryo morphology any structural anomaly of an embryo MP:0014135 abnormal extraembryonic mesoderm morphology any structural anomaly of the mesoderm of the extraembryonic tissue that is involved in forming the amnion, chorion, yolk sac, and body stalk MP:0014136 abnormal extraembryonic endoderm morphology any structural anomaly of the derivative of the hypoblast cells that migrate into the blastocyst cavity, and line the cavity, giving rise to the primary and definitive yolk sacs; the extraembryonic endoderm fills the remaining cavity of the blastocyst MP:0014137 abnormal preimplantation embryo morphology any structural anomaly of an embryo between fertilization and implantation MP:0014138 abnormal germ layer morphology any structural anomaly of the layer of cells produced during the process of gastrulation during the early development of the animal embryo, which is distinct from other such layers of cells, as an early step of cell differentiation MP:0014139 abnormal ectoderm morphology primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue MP:0014140 abnormal endoderm morphology any structural anomaly of the primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut MP:0014141 abnormal mesoderm morphology any structural anomaly of the middle germ layer of the embryo, between the endoderm and ectoderm MP:0014142 increased body fat mass increased physical bulk or volume of fat in the whole body MP:0014143 decreased body fat mass decreased physical bulk or volume of fat in the whole body MP:0014144 abnormal white adipose tissue mass aberrant physical bulk or volume of white adipose tissue MP:0014145 increased white adipose tissue mass increased physical bulk or volume of white adipose tissue MP:0014146 decreased white adipose tissue mass decreasd physical bulk or volume of white adipose tissue MP:0014147 lacrimal gland necrosis morphological changes resulting from pathological death of lacrimal gland tissue; usually due to irreversible damage MP:0014148 lacrimal gland degeneration a retrogressive impairment of function or destruction of the tubuloacinar exocrine glands that secrete the aqueous layer of the tear film (tears); mice have two lacrimal glands (intra- and exorbital) MP:0014149 abnormal lacrimal gland innervation pattern any structural or position anomaly of the supply of nerve fibers that connect to the tubuloacinar exocrine glands that secrete the aqueous layer of the tear film (tears) MP:0014150 lacrimal gland hyperplasia increase in the number of normal cells in normal arrangement in the lacrimal gland, typically resulting in increased size MP:0014151 lacrimal gland hypoplasia decrease in the number of normal cells in normal arrangement in the lacrimal gland, typically resulting in decreased size MP:0014152 absent exorbital lacrimal gland absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland MP:0014153 absent intraorbital lacrimal gland absence of the small intra-orbital lacrimal gland that, in mice, is normally located superficially at the lateral canthus, where both the lacrimal gland and Harderian gland ducts open MP:0014154 Meibomian gland degeneration a retrogressive impairment of function or destruction of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate MP:0014155 absent olfactory epithelium absence of the epithelial cells that line the interior of the nose MP:0014156 abnormal lacrimal gland myoepithelium morphology any structural anomaly of the stellate-shaped contractile cells with flattened nuclei and long slender processes that surround the secretory acini and intralobular ducts of the lacrimal gland, located between the epithelium and the basement membrane; myoepithelial cells not only exhibit characteristics of other epithelial cells, such as expression of cytokeratin, but also exhibit properties of smooth muscle cells, such as expression of alpha-smooth muscle actin; their contraction might aid in the expulsion of fluid out of the secretory tubules or help maintain the patency of acinar and ductal lumens MP:0014157 alacrima absence of tear production; may occur in association with other disorders or as an isolated congenital defect MP:0014158 esophagus fibrosis invasion of fibrous connective tissue into the esophagus, often resulting from inflammation or injury MP:0014159 stomach fibrosis invasion of fibrous connective tissue into the stomach, often resulting from inflammation or injury MP:0014160 abnormal circulating cortisol level any anomaly in the blood concentration of the principal glucocorticoid produced by the zona fasciculata of the adrenal cortex within the adrenal gland; cortisol is released in response to stress and a low level of blood glucose; it functions to increase blood sugar through gluconeogenesis, to suppress the immune system, and to aid the metabolism of fat, protein, and carbohydrate; it also decreases bone formation MP:0014161 increased circulating cortisol level greater than the normal blood concentration of the principal glucocorticoid produced by the zona fasciculata of the adrenal cortex within the adrenal gland and released in response to stress and a low level of blood glucose MP:0014162 decreased circulating cortisol level less than the normal blood concentration of the principal glucocorticoid produced by the zona fasciculata of the adrenal cortex within the adrenal gland and released in response to stress and a low level of blood glucose MP:0014163 abnormal ciliary muscle morphology any structural anomaly of the ring of smooth muscle in the eye's vascular layer that forms the main part of the ciliary body, controls accommodation for viewing objects at varying distances, and regulates the flow of aqueous humor into the canal of Schlemm MP:0014164 abnormal ciliary process morphology any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the external border of the iris, and together with the folds (plicae) in the furrows between them, constitute the corona ciliaris; ciliary processes produce aqueous humor MP:0014165 absent ciliary process absence or loss of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; ciliary processes produce aqueous humor MP:0014166 ectopic cranial bone the appearance of an extra bone structure at an atypical location in or near the cranium MP:0014167 ectopic bone the appearance of an extra bone structure at an atypical location MP:0014168 abnormal brown adipose tissue mass aberrant physical bulk or volume of brown adipose tissue MP:0014169 decreased brown adipose tissue mass decreased physical bulk or volume of brown adipose tissue MP:0014170 increased brown adipose tissue mass increased physical bulk or volume of brown adipose tissue MP:0014171 increased fatty acid oxidation increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen MP:0014172 decreased fatty acid oxidation decreased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen MP:0014173 increased fatty acid beta-oxidation increased rate or incidence of the process that results in the complete oxidation of a long-chain fatty acid, beginning with the addition of coenzyme A to a fatty acid, with successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively) MP:0014174 decreased fatty acid beta-oxidation decreased rate or incidence of the process that results in the complete oxidation of a long-chain fatty acid, beginning with the addition of coenzyme A to a fatty acid, with successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively) MP:0014175 abnormal ciliary epithelium morphology any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of low cuboidal cells and is adjacent to the stroma and continuous with the retinal pigmented epithelium; the inner layer is formed by non-pigmented epithelium, a columnar epithelium, adjacent to the aqueous humor in the posterior chamber and continuous with the retina; these two layers of the epithelium are appositioned in their apical surfaces MP:0014176 abnormal cilary zonule morphology any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigmented ciliary epithelium; this fibrous rigging ensures lens centration; in species that accommodate, the zonule transmits the forces that flatten the lens, allowing the eye to focus on distant objects MP:0014177 abnormal Weber's gland morphology any structural anomaly of the lingual glands located on the lateral margins of the tongue, at the level of the foliate papillae and in the root of the tongue behind the circumvallate papillae; in humans, the ducts of posterior superficial lingual glands open into the crypts of lingual tonsils; mucous supplied by these glands may help to cleanse the crypts and aid in deglutition MP:0014178 increased brain apoptosis increase in the number of cells of the brain undergoing programmed cell death MP:0014179 abnormal blood-retina barrier function anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal circulation and tight-junctions between retinal epithelial cells preventing passage of large molecules from choriocapillaris into the retina; the BRB barrier becomes more leaky in patients with diabetic retinopathy MP:0014180 abnormal thymus apoptosis change in the timing or the number of cells located in the thymus that are undergoing programmed cell death MP:0014181 abnormal respiratory epithelial sodium ion transmembrane transport any anomaly in the directed movement of a sodium from one side of the respiratory epithelial cell membrane to the other MP:0014182 decreased respiratory epithelial sodium ion transmembrane transport decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other MP:0014183 increased respiratory epithelial sodium ion transmembrane transport increase in the directed movement of sodium ion from one side of the respiratory epithelial cell membrane to the other MP:0014184 hindbrain atrophy acquired diminution of the size of the hindbrain associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0014185 cerebellum atrophy acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0014186 epididymis hypertrophy increase in the bulk size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens due to cell enlargement MP:0014187 spermatocele a retention cyst of a tubule of the rete testis or the head of the epididymis distended with barely watery fluid that contains spermatozoa MP:0014188 epididymis fibrosis invasion of fibrous connective tissue into the epididymis, often resulting from inflammation or injury MP:0014189 testis fibrosis invasion of fibrous connective tissue into the testis, often resulting from inflammation or injury MP:0014190 abnormal epididymis physiology any functional anomaly of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens MP:0014191 abnormal epididymal cell proliferation anomaly in the expansion rate of any epididymal cell population by cell division MP:0014192 increased epididymal cell proliferation increase in the expansion rate of any epididymal cell population by cell division MP:0014193 decreased epididymal cell proliferation decrease in the expansion rate of any epididymal cell population by cell division MP:0014194 increased epididymal epithelium cell proliferation increase in the expansion rate of the cells of the epididymal epithelium by cell division MP:0014195 abnormal endocrine pancreas secretion anomaly in the synthesis and/or release of any of the hormones produced by different types of cells in the islets of Langerhans of the endocrine pancreas and secreted directly into the blood stream to regulate blood glucose homeostasis; these hormones include glucagon secreted by alpha cells, insulin and amylin (also known as Islet Amyloid Polypeptide or IAPP) co-secreted by beta cells, somatostatin secreted by delta cells, gherlin secreted by epsilon cells, and pancreatic polypeptide secreted by PP cells (also known as F cells MP:0014198 absent pituitary infundibular stalk absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland MP:0014199 abnormal parotid gland myoepithelium morphology any structural anomaly of the stellate-shaped contractile cells with long dendritic processes that surround the secretory acini and intercalated ducts of the parotid gland, usually found in the glandular epithelium as a thin layer above the basement membrane but generally beneath the luminal cells; they display features of both smooth muscle and epithelium, such as numerous microfilaments with focal densities in the cytoplasmic processes, and desmosomes which attach them to the epithelial cells; their functions include contraction when the gland is stimulated to secrete, compressing or reinforcing the underlying parenchymal cells, thus aiding in the expulsion of saliva and preventing damage to the other cells MP:0014200 abnormal respiratory epithelium physiology any functional anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi MP:0014201 abnormal intestinal epithelium physiology any functional anomaly of the cellular avascular layer of the digestive tube passing from the stomach to the anus MP:0014202 abnormal intestinal epithelial transmembrane transport any anomaly in the process in which a solute is transported across the lipid bilayer of an intestinal cell, from one side of a membrane to the other MP:0014203 abnormal intestinal epithelial chloride transmembrane transport any anomaly in the process in which a calcium ion is transported from one side of a membrane of an intestinal epithelial cell to the other by means of some agent such as a transporter or pore MP:0014204 abnormal intestinal epithelial sodium ion transmembrane transport any anomaly in the process in which a sodium ion is transported from one side of a membrane of an intestinal epithelial cell to the other by means of some agent such as a transporter or pore MP:0014205 increased intestinal epithelial sodium ion transmembrane transport increase in the directed movement of a sodium ions from one side of the intestinal epithelial cell membrane to the other MP:0014206 decreased intestinal epithelial sodium ion transmembrane transport decrease in the directed movement of a sodium ions from one side of the intestinal epithelial cell membrane to the other MP:0014207 increased intestinal epithelial chloride transmembrane transport increase in the directed movement of a chloride from one side of the intestinal epithelial cell membrane to the other MP:0014208 decreased intestinal epithelial chloride transmembrane transport decrease in the directed movement of a chloride from one side of the intestinal epithelial cell membrane to the other MP:0014209 abnormal pancreatic duct epithelium physiology any functional anomaly of the epithelial layer of the pancreatic duct MP:0014210 abnormal pancreatic duct epithelial transmembrane transport any anomaly in the directed movement of a substance from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other MP:0014211 abnormal pancreatic duct epithelial chloride transmembrane transport any anomaly in the directed movement of chloride from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other MP:0014212 decreased pancreatic duct epithelial chloride transmembrane transport reduction in the directed movement of chloride from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other MP:0014213 increased pancreatic duct epithelial chloride transmembrane transport increase in the directed movement of chloride from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other MP:0014214 abnormal pancreatic duct epithelial sodium ion transmembrane transport any anomaly in the directed movement of sodium ions from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other MP:0014215 increased pancreatic duct epithelial sodium ion transmembrane transport increase in the directed movement of sodium ions from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other MP:0014216 decreased pancreatic duct epithelial sodium ion transmembrane transport reduction in the directed movement of sodium ions from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other MP:0014217 abnormal intestinal mucosa thickness anomaly in the width of the mucosal layer that lines the intestine MP:0014218 increased intestinal mucosa thickness increase in the width of the mucosal layer that lines the intestine MP:0014219 decreased intestinal mucosa thickness decrease in the width of the mucosal layer that lines the intestine MP:0014220 abnormal colon goblet cell number any anomaly in the number of goblet cells in the colon MP:0014221 increased colon goblet cell number increase in the number of goblet cells in the colon MP:0014222 decreased colon goblet cell number reduction in the number of goblet cells in the colon MP:0014223 abnormal ileal goblet cell number any anomaly in the number of goblet cells in the ileum MP:0014224 increased ileal goblet cell number increase in the number of goblet cells in the ileum MP:0014225 decreased ileal goblet cell number reduction in the number of goblet cells in the ileum MP:0014226 abnormal alveolar macrophage physiology any functional anomaly of the round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells MP:0014227 abnormal alveolar macrophage number any anomaly in the number of round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells MP:0014228 increased alveolar macrophage number increase in the number of round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells MP:0014229 decreased alveolar macrophage number reduction in the number of round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells MP:0014230 dilated crypt of Lieberkuhn an expansion in the volume or area of the lumen of one or more of the crypts of Lieberkuhn MP:0014231 intestinal mucus accumulation increase in the amount of mucus contained within the lumin of the intestine MP:0014232 dilated pancreatic acinus the luminal space of one or more of the pancreatic acini are increased in volume or area, usually with an increase in contained fluid MP:0014233 bile duct epithelium hyperplasia increase in the number of normal cells in normal arrangement in the bile duct epithelium, typically resulting in increased size MP:0014234 decreased enterocyte apoptosis reduction in the timing or the number of enterocytes undergoing programmed cell death MP:0014235 abnormal tumor-free survival time any anomaly in the span of life of an organism or population of organisms spends free from the signs, symptoms, or occurrence of neoplasms MP:0014236 increased tumor-free survival time increase in the length of time an organism or population of organisms spends free from the signs, symptoms, or occurrence of neoplasms MP:0014237 decreased tumor-free survival time decrease in the length of time an organism or population of organisms spends free from the signs, symptoms, or occurrence of neoplasms MP:0014238 abnormal ribosome morphology any anomaly in the structure of the intracellular organelle consisting of RNA and protein that is the site of protein biosynthesis resulting from translation of messenger RNA MP:0014239 abnormal intracellular organelle morphology any anomaly in the structure of the organized components of distincive morphology and function that occur within a cell MP:0014240 abnormal ribosome physiology any functional anomaly in the intracellular organelle consisting of RNA and protein that is the site of protein biosynthesis resulting from translation of messenger RNA MP:0014241 abnormal intracellular organelle physiology any functional anomaly in the organized components of distincive morphology and function that occur within a cell MP:0014242 abnormal ribosome biogenesis any anomaly in the process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits; including transport to the sites of protein synthesis MP:0014243 abnormal ribosome assembly any anomaly in the process that results in the aggregation, arrangement and bonding together of the mature ribosome and of its subunits MP:0014244 abnormal cellular ATP level anomaly in the amount of the major energy source adenosine triphosphate inside cells MP:0014245 increased cellular ATP level elevated concentration of the major energy source adenosine triphosphate inside cells MP:0014246 decreased cellular ATP level reduced concentration of the major energy source adenosine triphosphate inside cells MP:0014247 long photoreceptor inner segment increased length of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region MP:0014248 thin retina nerve fiber layer decreased thickness of the retinal layer formed by expansion of the fibers of the optic nerve MP:0014249 thick retina nerve fiber layer increased thickness of the retinal layer formed by expansion of the fibers of the optic nerve MP:0014250 disorganized retina nerve fiber layer derangement of the normal pattern of the retinal layer formed by expansion of the fibers of the optic nerve MP:0014251 absent retina nerve fiber layer absence of the retinal layer formed by expansion of the fibers of the optic nerve MP:0014252 abnormal paired-pulse ratio any anomaly in the response of central synapses when activated twice in rapid succession as expressed by the ratio of the amplitude of the second response to the first response MP:0014253 decreased paired-pulse ratio decrease in the ratio of the amplitude of the second response to the first response in central synapses following activation twice in rapid succession MP:0014254 increased paired-pulse ratio increase in the ratio of the amplitude of the second response to the first response in central synapses following activation twice in rapid succession MP:0014255 increased paired-pulse inhibition elevation in the suppressive response of central synapses when activated twice in rapid succession MP:0014256 decreased paired-pulse inhibition reduction in the suppressive response of central synapses when activated twice in rapid succession MP:0014257 embryonic lethality prior to tooth bud stage, complete penetrance death of all organisms prior to the appearance of tooth buds (Mus: E12-E12.5) MP:0014258 embryonic lethality prior to tooth bud stage, incomplete penetrance the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms prior to the appearance of tooth buds (Mus: E12-E12.5) MP:0014259 embryonic lethality prior to organogenesis, complete penetrance death of all organisms prior to the completion of embryo turning (Mus: E9-9.5) MP:0014260 embryonic lethality prior to organogenesis, incomplete penetrance the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms prior to the completion of embryo turning (Mus: E9-9.5) MP:0014261 abnormal spleen B cell follicle number any anomaly in the number of areas of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur MP:0014262 increased spleen B cell follicle number increase in the number of areas of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur MP:0014263 decreased spleen B cell follicle number reduction in the number of areas of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur MP:0014264 abnormal perivascular vein cell coverage any anomaly in the extent to which the cells residing around veins surround the vessel, these cells include vascular smooth muscle cells and pericytes MP:0014265 thick retina inner plexiform layer increased thickness of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites MP:0014266 thick retina outer plexiform layer increased thickness of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites) MP:0014267 decreased sex gland secretion a reduction in the production and/or release of hormones from a cell or a gland of the reproductive system MP:0014268 increased sex gland secretion an increase in the production and/or release of hormones from a cell or a gland of the reproductive system MP:0014269 decreased testes secretion reduction in the production and/or release of hormones from testicular tissue MP:0014270 decreased ovary secretion reduction in the production and/or release of hormones from ovarian tissue MP:0014271 increased testes secretion elevation in the production and/or release of hormones from testicular tissue MP:0014272 increased ovary secretion elevation in the production and/or release of hormones from ovarian tissue MP:0014273 abnormal skin vasculature morphology any structural anomaly of the network of tubes that carries blood through the skin MP:0014274 decreased respiration decrease in the movement of gases into and out of the lung MP:0014275 increased respiration increase in the movement of gases into and out of the lung MP:0014276 lobar holoprosencephaly the least severe form of holosprosencephaly, most of the brain is separated into two hemispheres but the division is incomplete with the cerebral hemispheres fused in the frontal cortex MP:0014277 alobar holoprosencephaly the most severe forme of holoprosencaphaly with complete failure of the brain to separate into two hemispheres MP:0014278 semilobar holoprosencephaly a type of holoprosencephaly with partial division of the brain into two hemispheres, fusion of the hemispheres is present in the frontal and parietal lobes with the interhemispheric fissure present only in the back of the brain MP:0014279 abnormal intestinal rotation any anomaly in the normal turning and fixation of the intestine during development potentially resulting in twisting of the intestine MP:0014280 forelimb oligodactyly congenital condition in which some digits or parts of digits are missing from the autopods of the forelimbs MP:0014281 hindlimb oligodactyly congenital condition in which some digits or parts of digits are missing from the autopods of the hindlimbs MP:0014282 forelimb syndactyly any degree of webbing or fusion of the digits of the forelimb autopod, may involve only soft tissues or also can include bone MP:0014283 hindlimb syndactyly any degree of webbing or fusion of the digits of the hindlimb autopod, may involve only soft tissues or also can include bone MP:0014284 abnormal adrenal gland zona fasciculata size anomaly in the size of the wide middle zone of the adrenal cortex that produces cortisol MP:0014285 disorganized adrenal gland zona fasciculata derangement of the pattern of the cells in the wide middle zone of the adrenal cortex MP:0014286 increased adrenal gland zona fasciculata size increase in the size of the wide middle zone of the adrenal cortex that produces cortisol MP:0014287 decreased adrenal gland zona fasciculata size decrease in the size of the wide middle zone of the adrenal cortex that produces cortisol MP:0014288 rhizomelic limb the proximal portion of the limbs are dispropotionately shortened MP:0014289 decreased distal limb length the distal portion of the limbs are dispropotionately shortened MP:0014290 abnormal autopod size anomaly in the size of the distal elements of the limb MP:0014291 decreased autopod size reduced size of the distal elements of the limb of vertebrates MP:0014292 decreased internal diameter of tibia reduced cross-sectional distance that extends from one lateral edge of the tibia long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the tibia MP:0014293 increased internal diameter of tibia increased cross-sectional distance that extends from one lateral edge of the tibia long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the tibia MP:0014294 abnormal skeletal maturation any anomaly in the series of characteristic changes in size, shape, and calcification occuring in the skeleton from fetal life until puberty that result in the skeleton reaching its full maturity MP:0014295 premature skeletal maturation earlier than expected age at which the skeleton reaches specific stages of maturation MP:0014296 delayed skeletal maturation later than expected age at which the skeleton reaches specific stages of maturation MP:0014297 abnormal cochlea size anomaly in the size of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound MP:0014298 abnormal cochlear width any anomaly in the side to side dimension of the cochlea MP:0014299 increased cochlea size increased size of the cochlea MP:0014300 decreased cochlea size reduced size of the cochlea MP:0014301 decreased cochlea width reduction in the side to side dimension of the cochlea MP:0014302 increased cochlea width increase in the side to side dimension of the cochlea MP:0014303 abnormal cochlea length any anomaly in the end to end length of the cochlea MP:0014304 increased cochlea length increase in the end to end length of the cochlea MP:0014305 decreased cochlea length decrease in the end to end length of the cochlea MP:0014306 increased cochlea coiling an increase in cochlear coiling or number of turns; in wild-type mice, the cochlea most commonly exhibits one and three-fourth turns MP:0014307 decreased femor compact bone volume less than normal amount of space occupied by compact bone tissue in the femor MP:0014308 decreased tibia compact bone volume less than normal amount of space occupied by compact bone tissue in the tibia MP:0014309 increased femor compact bone volume greater than normal amount of space occupied by compact bone tissue in the femor MP:0014310 increased tibia compact bone volume greater than normal amount of space occupied by compact bone tissue in the tibia MP:0014311 increased primordial germ cell proliferation increase in the ability of the primordial germ cell population to undergo rapid expansion by cell division MP:0014312 thick lower lip lower lip has an abundance and often an excess of soft tissue MP:0014313 thin lower lip lower lip has a reduced amount of soft tissue MP:0014314 irregular cerebellar foliation pattern derangement of the normal organized pattern of the folia into one lacking uniformity MP:0014315 decreased heart left ventricle anterior wall thickness decrease in the depth of the cardiac wall on the anterior side of the heart left ventricle MP:0014316 decreased heart left ventricle posterior wall thickness decrease in the depth of the cardiac wall on the posterior side of the heart left ventricle MP:0014317 decreased heart left ventricle septal wall thickness decrease in the depth of the cardiac septal wall of the heart left ventricle MP:0014318 abnormal oligodendrocyte differentiation anomaly in the process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte MP:0014319 abnormal heart atrium arrangement any anomaly in the spatial relationship of the atria to other compartments of the heart MP:0014320 abnormal autopod rotation any anomaly in the rotational alignment of the autopods relative to the limbs MP:0014321 short forelimb reduced average length of the forelimbs MP:0014322 short hindlimb reduced average length of the hindlimbs MP:0014323 long hindlimb increased average length of the hindlimbs MP:0014324 long forelimb increased average length of the forelimbs MP:0014325 abnormal oligodendrocyte progenitor morphology any structural anomaly in the cells that differentiate into oligodendrocytes or type-2 astrocytes in the central nervous system MP:0014326 abnormal Purkinje cell size any anomaly in the size of the inhibitory neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex MP:0014327 decreased Purkinje cell size decrease in the size of Purkinje cells MP:0014328 increased Purkinje cell size increase in the size of Purkinje cells MP:0014329 abnormal Purkinje cell axon morphology any structural anomaly of the single process of a Purkinje cell that normally conducts impulses away from the cell body MP:0014330 abnormal Purkinje cell focal axonal swelling any anomaly in localized enlargements of the axon of a Purkinje cell MP:0014331 abnormal Purkinje cell mitochondrial morphology any structural anomaly of the semiautonomous, self replicating organelles in the Purkinje cells MP:0014332 long retina cone cell outer segment increased length of the retinal cone cell outer segment MP:0014333 short retina cone cell outer segment decreased length of the retinal cone cell outer segment MP:0014334 short retina cone cell inner segment decreased length of the retinal cone cell inner segment MP:0014335 long retina cone cell inner segment increased length of the retinal cone cell inner segment MP:0014336 short retina rod cell outer segment decreased length of the retinal rod cell outer segment MP:0014337 long retina rod cell outer segment increased length of the retinal rod cell outer segment MP:0014338 abnormal spleen B cell follicle size deviation from the normal size of the B cell follicles in the spleen MP:0014339 long retina rod cell inner segment increased length of the retinal rod cell inner segment MP:0014340 short retina rod cell inner segment decreased length of the retinal rod cell inner segment MP:0014341 abnormal hepatocyte mitochondrial morphology any structural anomaly of the semiautonomous, self replicating organelles in the hepatocytes MP:0014342 abnormal muscle fiber mitochondrial morphology any structural anomaly of the semiautonomous, self replicating organelles in muscle fibers MP:0014343 abnormal myocardial fiber mitochondrial morphology any structural anomaly of the semiautonomous, self replicating organelles in myocardial fibers MP:0014344 abnormal skeletal muscle fiber mitochondrial morphology any structural anomaly of the semiautonomous, self replicating organelles in skeletal muscle fibers MP:0014345 abnormal neuron mitochondrial morphology any structural anomaly of the semiautonomous, self replicating organelles in neurons MP:0014346 abnormal motor neuron mitochondrial morphology any structural anomaly of the semiautonomous, self replicating organelles in motor neurons MP:0014347 increased spleen B cell follicle size larger than normal size of the B cell follicles in the spleen MP:0014348 decreased spleen B cell follicle size smaller than normal size of the B cell follicles in the spleen MP:0014349 absent spleen B cell follicles absence of all the B cell follicles in the spleen MP:0014350 disorganized spleen B cell follicle derangement of the normal pattern of B cells within the follicles of the spleen MP:0014351 abnormal spleen B cell follicle shape any anomaly in the characteristic surface outline or contour of the B cell follicles in the spleen MP:0014352 abnormal brush cell morphology any structural anomaly in cells characterized by a tuft of blunt, squat microvilli found in the gastrointestinal and respiratory tracts MP:0014353 abnormal gastrointestinal brush cell morphology any structural anomaly in cells characterized by a tuft of blunt, squat microvilli typically found in the gastrointestinal tract MP:0014354 abnormal respiratory tract brush cell morphology any structural anomaly in cells characterized by a tuft of blunt, squat microvilli typically found in the respiratory tract MP:0014355 abnormal programmed cell death any anomaly in a process which begins when a cell receives an internal or external signal and activates a series of biochemical eventsthat ends with the death of the cell MP:0014356 abnormal necroptotic process any anomaly in the process which begins when a cell receives a signal and proceeds through a series of biochemical events, characterized by activation of receptor-interacting serine/threonine-protein kinase 1 and/or 3 (RIPK1/3, also called RIP1/3) and by critical dependence on mixed lineage kinase domain-like (MLKL), and which typically lead to common morphological features of necrotic cell death MP:0014357 abnormal pyroptosis any anomaly in the caspase-1-dependent cell death subroutine that is associated with the generation of pyrogenic mediators such as IL-1beta and IL-18 MP:0014358 abnormal ferroptosis any anomaly in the process characterized morphologically by the presence of smaller than normal mitochondria with condensed mitochondrial membrane densities, reduction or vanishing of mitochondria crista, and outer mitochondrial membrane rupture MP:0014359 increased ferroptosis more than the expected amount or rate of ferroptosis in the whole organism, tissue, or cell population MP:0014360 decreased ferroptosis less than the expected amount or rate of ferroptosis in the whole organism, tissue, or cell population MP:0014361 increased necroptotic process more than the expected amount or rate of necroptotic processes in the whole organism, tissue, or cell population MP:0014362 decreased necroptotic process less than the expected amount or rate of necroptotic processes in the whole organism, tissue, or cell population MP:0014363 increased pyroptosis more than the expected amount or rate of pyroptosis in the whole organism, tissue, or cell population MP:0014364 decreased pyroptosis less than the expected amount or rate of pyroptosis in the whole organism, tissue, or cell population MP:0014365 impaired short-term object recognition memory impaired ability of short-term memory to recognize objects during the first few minutes after training MP:0014366 enhanced short-term object recognition memory enhanced ability of short-term memory to recognize objects during the first few minutes after training MP:0014367 impaired long-term object recognition memory impairment of the long-term memory for objects that is consolidated over hours and days after training MP:0014368 enhanced long-term object recognition memory enhancement of the long-term memory for objects that is consolidated over hours and days after training MP:0014369 enhanced spatial working memory enhamced ability to spontaneously process spatial location information in order to navigate or perform other behavior using such location cues, without previous encounters or training at that location MP:0014370 impaired spatial working memory impaired ability to spontaneously process spatial location information in order to navigate or perform other behavior using such location cues, without previous encounters or training at that location MP:0014371 abnormal miniature excitatory postsynaptic current amplitude anomaly in the size (height or maximum displacement) or shape of the miniature excitatory postsynaptic current wave MP:0014372 decreased miniature excitatory postsynaptic current amplitude decrease in the size (height or maximum displacement) of the miniature excitatory postsynaptic current wave MP:0014373 increased miniature excitatory postsynaptic current amplitude increase in the size (height or maximum displacement) of the miniature excitatory postsynaptic current wave MP:0014374 abnormal miniature excitatory postsynaptic current frequency any anomaly in the number of occurrences of miniature excitatory postsynaptic currents per unit time MP:0014375 increased miniature excitatory postsynaptic current frequency increase in the number of occurrences of miniature excitatory postsynaptic currents per unit time MP:0014376 decreased miniature excitatory postsynaptic current frequency decrease in the number of occurrences of miniature excitatory postsynaptic currents per unit time MP:0014377 abnormal excitatory postsynaptic current frequency any anomaly in the number of occurrences of excitatory postsynaptic currents per unit time MP:0014378 increased excitatory postsynaptic current frequency increase in the number of occurrences of excitatory postsynaptic currents per unit time MP:0014379 decreased excitatory postsynaptic current frequency decrease in the number of occurrences of excitatory postsynaptic currents per unit time MP:0014380 abnormal miniature inhibitory postsynaptic current amplitude anomaly in the size (height or maximum displacement) or shape of the miniature inhibitory postsynaptic current wave MP:0014381 abnormal miniature inhibitory postsynaptic current frequency any anomaly in the number of occurrences of miniature inhibitory postsynaptic currents per unit time MP:0014382 increased miniature inhibitory postsynaptic current frequency increase in the number of occurrences of miniature inhibitory postsynaptic currents per unit time MP:0014383 decreased miniature inhibitory postsynaptic current frequency decrease in the number of occurrences of miniature inhibitory postsynaptic currents per unit time MP:0014384 increased miniature inhibitory postsynaptic current amplitude increase in the size (height or maximum displacement) of the miniature inhibitory postsynaptic current wave MP:0014385 decreased miniature inhibitory postsynaptic current amplitude decrease in the size (height or maximum displacement) of the miniature inhibitory postsynaptic current wave MP:0014386 decreased muscle fiber mitochondrial DNA content less than expected amount of DNA contained within the mitochondria of a muscle fiber MP:0014387 decreased neuron mitochondrial DNA content less than expected amount of DNA contained within the mitochondria of a neuron MP:0014388 decreased hepatocyte mitochondrial DNA content less than expected amount of DNA contained within the mitochondria of a hepatocyte MP:0014389 decreased skeletal muscle fiber mitochondrial DNA content less than expected amount of DNA contained within the mitochondria of a skeletal muscle fiber MP:0014390 decreased myocardial fiber mitochondrial DNA content less than expected amount of DNA contained within the mitochondria of a myocardial fiber MP:0014391 increased hepatocyte mitochondrial DNA content greater than expected amount of DNA contained within the mitochondria of a hepatocyte MP:0014392 increased neuron mitochondrial DNA content greater than expected amount of DNA contained within the mitochondria of a neuron MP:0014393 increased muscle fiber mitochondrial DNA content greater than expected amount of DNA contained within the mitochondria of a muscle fiber MP:0014394 increased skeletal muscle fiber mitochondrial DNA content greater than expected amount of DNA contained within the mitochondria of a skeletal muscle fiber MP:0014395 increased myocardial fiber mitochondrial DNA content greater than expected amount of DNA contained within the mitochondria of a myocardial fiber MP:0014396 decreased fat cell mitochondrial DNA content less than expected amount of DNA contained within the mitochondria of an adipocyte MP:0014397 increased fat cell mitochondrial DNA content greater than expected amount of DNA contained within the mitochondria of an adipocyte MP:0014398 abnormal fat cell mitochondrial morphology any structural anomaly of the semiautonomous, self replicating organelles in fat cells MP:0014399 decreased hematopoietic precursor cell number less than the expected number of a hematopoietic cell that is a precursor of some other hematopoietic cell type MP:0014400 increased hematopoietic precursor cell number greater than the expected number of a hematopoietic cell that is a precursor of some other hematopoietic cell type MP:0014401 absent hematopoietic precursor cells absence of all hematopoietic cells that are a precursor of some other hematopoietic cell type MP:0014402 abnormal Reissner's fiber morphology any structural anomaly in the acellular strand that runs from subcommissural organ caudally through the ventricular system and central canal to the ampulla caudalis MP:0014403 decreased early pro-B cell number reduced number of cells in the B lymphocyte lineage that undergo D-J rearrangement of the immunoglobulin heavy chain MP:0014404 decreased late pro-B cell number reduced number of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain MP:0014405 abnormal distortion product otoacoustic emission threshold any anomaly in the sound pressure required to evoke distortion product emission signal reliably above the noise noise level MP:0014406 increased or absent distortion product otoacoustic emission threshold elevation in the sound pressure required to evoke distortion product emission signal reliably above the noise noise level or failure to evoke a response at the highest sound pressue tested MP:0014407 decreased distortion product otoacoustic emission threshold decrease in the sound pressure required to evoke distortion product emission signal reliably above the noise noise level MP:0014408 abnormal distortion product otoacoustic emission amplitude anomaly in the size (height or maximum displacement) or shape of the sound wave produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies MP:0014409 decreased distortion product otoacoustic emission amplitude reduction in the size (height or maximum displacement) of the sound wave produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies MP:0014410 increased distortion product otoacoustic emission amplitude increase in the size (height or maximum displacement) of the sound wave produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies MP:0014411 abnormal outer hair cell stereocilia length MP:0014412 long outer hair cell stereocilia increased length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cell MP:0014413 decreased depression-related behavior reduced responses to a stressful situation or stimulus, or increased tendency to seek pleasurable stimuli MP:0014414 increased depression-related behavior elevated responses to a stressful situation or stimulus, or decreased tendency to seek pleasurable stimuli MP:0014415 increased social novelty preference increase in the time spent with or preference for interactions with a novel individual of the same species versus with a familiar individual of the same species MP:0014416 decreased social novelty preference reduction in the time spent with or preference for interactions with a novel individual of the same species versus with a familiar individual of the same species MP:0014417 abnormal liver secretion any anomaly in the production or release of substances by cells of the liver MP:0014418 decreased liver secretion reduction in the production or release of substances by cells of the liver MP:0014419 increased liver secretion increase in the production or release of substances by cells of the liver MP:0014420 abnormal liver triglyceride secretion any anomaly in the production or release of triglycerides by cells of the liver MP:0014421 abnormal liver apolipoprotein B secretion any anomaly in the production or release of apolipoprotein B by cells of the liver MP:0014422 increased liver apolipoprotein B secretion increase in the production or release of apolipoprotein B by cells of the liver MP:0014423 decreased liver apolipoprotein B secretion reduction in the production or release of apolipoprotein B by cells of the liver MP:0014424 increased liver triglyceride secretion increase in the production or release of triglycerides by cells of the liver MP:0014425 decreased liver triglyceride secretion reduction in the production or release of triglycerides by cells of the liver MP:0014426 abnormal hyaluronic acid level any anomaly in the amount of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine MP:0014427 increased circulating hyaluronic acid level more than the expected amount in the blood of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine MP:0014428 decreased circulating hyaluronic acid level less than the expected amount in the blood of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine MP:0014429 increased hyaluronic acid level more than the expected amount of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine MP:0014430 decreased hyaluronic acid level less than the expected amount of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine MP:0014431 increased chemokine level more than the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes MP:0014432 decreased chemokine level less than the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes MP:0014433 increased cytokine level more than the normal levels of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells MP:0014434 decreased cytokine level less than the normal levels of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells MP:0014435 increased interferon level more than the normal levels of of interferons MP:0014436 decreased interferon level less than the normal levels of of interferons MP:0014437 increased interleukin level more than the normal levels of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types MP:0014438 decreased interleukin level less than the normal levels of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types MP:0014439 abnormal response to leptin any anomaly in the ability of leptin to modulate energy intake and energy expenditure MP:0014440 increased response to leptin greater than the expected ability of leptin to modulate energy intake and energy expenditure MP:0014441 decreased response to leptin less than the expected ability of leptin to modulate energy intake and energy expenditure MP:0014442 abnormal polar body extrusion any anomaly in the cell cycle process in which two small cells are generated, as byproducts destined to degenerate, as a result of the first and second meiotic divisions of a primary oocyte during its development to a mature ovum MP:0014443 impaired polar body extrusion impaired or reduced function of the cell cycle process in which two small cells are generated, as byproducts destined to degenerate, as a result of the first and second meiotic divisions of a primary oocyte during its development to a mature ovum MP:0014444 enhanced polar body extrusion enhanced or increased function of the cell cycle process in which two small cells are generated, as byproducts destined to degenerate, as a result of the first and second meiotic divisions of a primary oocyte during its development to a mature ovum MP:0014445 abnormal spindle assembly in female meiosis any anomaly in the aggregation, arrangement and bonding together of a set of components to form the spindle during a meiotic cell cycle in females MP:0014446 enhanced spindle assembly in female meiosis enhancement of the aggregation, arrangement and bonding together of a set of components to form the spindle during a meiotic cell cycle in females MP:0014447 impaired spindle assembly in female meiosis impairment of the aggregation, arrangement and bonding together of a set of components to form the spindle during a meiotic cell cycle in females MP:0014448 increased enzyme/coenzyme level elevated level of any enzyme or their cofactors, that act as catalysts to induce chemical changes in other substances MP:0014449 decreased enzyme/conezyme level reduced level of any enzyme or their cofactors, that act as catalysts to induce chemical changes in other substances MP:0014450 increased circulating enzyme level elevated concentration in the blood of any of the proteins that act as catalysts for biological reactions MP:0014451 decreased circulating enzyme level reduced concentration in the blood of any of the proteins that act as catalysts for biological reactions MP:0014452 increased nitric oxide synthase level increase in the concentration of the enzyme(s) that catalyzes the synthesis of nitric oxide from L-arginine MP:0014453 decreased nitric oxide synthase level decrease in the concentration of the enzyme(s) that catalyzes the synthesis of nitric oxide from L-arginine MP:0014454 increased hormone level elevation in the tissue or circulating concentration of any substance, usually a peptide or steroid, that has a specific metabolic regulatory effect on the activity or behavior of cells expressing a receptor for the hormone MP:0014455 decreased hormone level reduction in the tissue or circulating concentration of any substance, usually a peptide or steroid, that has a specific metabolic regulatory effect on the activity or behavior of cells expressing a receptor for the hormone MP:0014456 increased circulating hormone level increase in the blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organ MP:0014457 decreased circulating hormone level reduction in the blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organ MP:0014458 increased urine hormone level elevation in the urine amount of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs MP:0014459 decreased urine hormone level reduction in the urine amount of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs MP:0014460 increased lipid level increase in the concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body MP:0014461 decreased lipid level reduction in the concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body MP:0020000 abnormal response to antigen anomaly in the immune response after exposure to an antigen MP:0020001 decreased response to antigen decreased or weak immune response after exposure to an antigen MP:0020002 increased response to antigen increased immune response after exposure to an antigen MP:0020003 abnormal sulfolipid level an anomaly in the concentration of lipids that possess a sulfur-containing functional group MP:0020004 obsolete abnormal sulfatide level anomaly in the concentration of the sulfolipids that contribute to myelin function and stability MP:0020005 decreased sulfoglycosphingolipid level decreased concentration or amount of the sulfolipids that contribute to myelin function and stability MP:0020006 increased sulfoglycosphingolipid level increased concentration or amount of the sulfolipids that contribute to myelin function and stability MP:0020007 decreased brain sulfoglycosphingolipid level decreased brain concentration of the sulfolipids that contribute to myelin function and stability MP:0020008 increased brain sulfoglycosphingolipid level increased brain concentration of the sulfolipids that contribute to myelin function and stability MP:0020009 abnormal bone mineral density of femur anomaly in the quantitative measurment of mineral content of bone in the long bone of the thigh MP:0020010 decreased bone mineral density of femur reduction in the quantitative measurment value of mineral content of bone in the long bone of the thigh MP:0020011 increased bone mineral density of femur elevation in the quantitative measurement value of mineral content of bone in the long bone of the thigh MP:0020012 abnormal arylsulphatase activity anomaly in the ability to catalyze the reaction: a phenol sulfate + H2O = a phenol + sulfate MP:0020013 decreased arylsulphatase activity decreased ability to catalyze the reaction: a phenol sulfate + H2O = a phenol + sulfate MP:0020014 increased arylsulphatase activity increased ability to catalyze the reaction: a phenol sulfate + H2O = a phenol + sulfate MP:0020015 abnormal aldehyde dehydrogenase activity anomaly in the ability to catalyze the oxidation (dehydrogenation) of aldehydes. MP:0020016 decreased aldehyde dehydrogenase activity increased ability to catalyze the oxidation (dehydrogenation) of aldehydes. MP:0020017 increased aldehyde dehydrogenase activity decreased ability to catalyze the oxidation (dehydrogenation) of aldehydes. MP:0020018 abnormal phenylalanine decarboxylase activity anomaly in the ability to catalyze the reaction: L-phenylalanine = phenylethylamine + CO2 MP:0020019 decreased phenylalanine decarboxylase activity decreased ability to catalyze the reaction: L-phenylalanine = phenylethylamine + CO2 MP:0020020 increased phenylalanine decarboxylase activity increased ability to catalyze the reaction: L-phenylalanine = phenylethylamine + CO2 MP:0020021 abnormal delta-aminolaevulinate dehydratase activity anomaly in the ability to catalyze the reaction: 2 5-aminolevulinate = 2 H(2)O + H(+) + porphobilinogen MP:0020022 decreased delta-aminolaevulinate dehydratase activity decreased ability to catalyze the reaction: 2 5-aminolevulinate = 2 H(2)O + H(+) + porphobilinogen MP:0020023 decreased hepatic delta-aminolaevulinate dehydratase activity decreased ability to catalyze the reaction in the liver: 2 5-aminolevulinate = 2 H(2)O + H(+) + porphobilinogen MP:0020024 increased delta-aminolaevulinate dehydratase activity increased ability to catalyze the reaction: 2 5-aminolevulinate = 2 H(2)O + H(+) + porphobilinogen MP:0020025 increased hepatic delta-aminolaevulinate dehydratase activity increased ability to catalyze the reaction in the liver: 2 5-aminolevulinate = 2 H(2)O + H(+) + porphobilinogen MP:0020026 abnormal aldehyde oxidase activity anomaly in the ability to catalyze the reaction: an aldehyde + H2O + O2 = a carboxylic acid + hydrogen peroxide MP:0020027 decreased aldehyde oxidase activity decreased ability to catalyze the reaction:an aldehyde + H2O + O2 = a carboxylic acid + hydrogen peroxide MP:0020028 increased aldehyde oxidase activity increased ability to catalyze the reaction: an aldehyde + H2O + O2 = a carboxylic acid + hydrogen peroxide MP:0020029 abnormal cholinesterase activity aberrant activity of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid MP:0020030 abnormal circulating cholinesterase activity aberrant activity of the blood of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid MP:0020031 decreased circulating cholinesterase activity decreased activity of the blood of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid MP:0020032 increased circulating cholinesterase activity increased activity of the blood of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid MP:0020033 increased cholinesterase activity increased activity of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid MP:0020034 decreased cholinesterase activity decreased activity of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid MP:0020035 abnormal coumarin hydroxylase activity anomaly in the ability to catalyze the reaction: coumarin + O2 + NADPH + H+ = hydroxycoumarin + H2O + NADP+ MP:0020036 decreased coumarin hydroxylase activity decreased ability to catalyze the reaction: coumarin + O2 + NADPH + H+ = hydroxycoumarin + H2O + NADP+ MP:0020037 increased coumarin hydroxylase activity increased ability to catalyze the reaction: coumarin + O2 + NADPH + H+ = hydroxycoumarin + H2O + NADP+ MP:0020038 retina macular degeneration retrogressive pathological change of the macula lutea MP:0020039 increased bone ossification increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance MP:0020040 decreased bone ossification decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance MP:0020041 decreased susceptibility to pulmonary hyaline membrane formation decreased likelihood of the presence of an eosinophilic hyaline (glass-like) material composed of fibrin, proteinaceous exudate and cellular debris, and lining or filling the alveoli, alveolar ducts and bronchioles MP:0020042 abnormal glucose-6-phosphate dehydrogenase activity anomaly in the ability to catalyze the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ MP:0020043 decreased glucose-6-phosphate dehydrogenase activity decreased ability to catalyze the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ MP:0020044 increased glucose-6-phosphate dehydrogenase activity increased ability to catalyze the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ MP:0020045 abnormal tyrosine aminotransferase activity anomaly in the ability to catalyze the transfer of an amino group from L-tyrosine to an acceptor, usually a 2-oxo acid MP:0020046 decreased tyrosine aminotransferase activity decreased ability to catalyze the transfer of an amino group from L-tyrosine to an acceptor, usually a 2-oxo acid MP:0020047 increased tyrosine aminotransferase activity increased ability to catalyze the transfer of an amino group from L-tyrosine to an acceptor, usually a 2-oxo acid MP:0020048 abnormal maltase activity anomaly in the ability to catalyze the reaction: alpha-maltose + H2O = 2 alpha-D-glucose MP:0020049 decreased maltase activity decreased ability to catalyze the reaction:alpha-maltose + H2O = 2 alpha-D-glucose MP:0020050 increased maltase activity increased ability to catalyze the reaction:alpha-maltose + H2O = 2 alpha-D-glucose MP:0020051 abnormal procollagen-proline 4-dioxygenase activity anomaly in the ability to catalyze the reaction: procollagen L-proline + 2-oxoglutarate + O2 = procollagen trans-4-hydroxy-L-proline + succinate + CO2 MP:0020052 decreased procollagen-proline 4-dioxygenase activity decreased ability to catalyze the reaction: procollagen L-proline + 2-oxoglutarate + O2 = procollagen trans-4-hydroxy-L-proline + succinate + CO2 MP:0020053 increased procollagen-proline 4-dioxygenase activity increased ability to catalyze the reaction: procollagen L-proline + 2-oxoglutarate + O2 = procollagen trans-4-hydroxy-L-proline + succinate + CO2 MP:0020054 abnormal beta-glucuronidase activity anomaly in the ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate MP:0020055 abnormal spermatazoal beta-glucuronidase activity anomaly in the ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate in the spermatozoa MP:0020056 decreased beta-glucuronidase activity reduced ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate MP:0020057 decreased spermatazoal beta-glucuronidase activity reduced ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate in the spermatozoa MP:0020058 increased beta-glucuronidase activity greater ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate MP:0020059 increased spermatazoal beta-glucuronidase activity greater ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate in the spermatozoa MP:0020060 abnormal hypoxanthine phosphoribosyltransferase activity anomaly in the ability to catalyze the reaction: IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate MP:0020061 decreased hypoxanthine phosphoribosyltransferase activity decreased ability to catalyze the reaction: IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate MP:0020062 increased hypoxanthine phosphoribosyltransferase activity increased ability to catalyze the reaction: IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate MP:0020063 abnormal thiopurine S-methyltransferase activity anomaly in the ability to catalyze the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether MP:0020064 decreased thiopurine S-methyltransferase activity decreased ability to catalyze the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether MP:0020065 increased thiopurine S-methyltransferase activity increased ability to catalyze the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether MP:0020066 abnormal neocortex size deviation from the average range of neocortex size compared to normal MP:0020067 increased neocortex size greater than average size of the neocortex MP:0020068 increased neocortex volume increase from the average range of neocortex volume compared to normal MP:0020069 decreased neocortex size size reduction or truncation of the neocortex MP:0020070 decreased neocortex volume decrease from the average range of neocortex volume compared to normal MP:0020071 decreased blood catalase activity reduced ability of the catalase enzyme in the blood to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O MP:0020072 increased blood catalase activity increased ability of the catalase enzyme in the blood to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O MP:0020073 abnormal tyrosine 3-monooxygenase activity anomaly in the ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine MP:0020074 abnormal brain tyrosine 3-monooxygenase activity anomaly in the ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine in the brain MP:0020075 increased tyrosine 3-monooxygenase activity greater ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine MP:0020076 increased brain tyrosine 3-monooxygenase activity greater ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine in the brain MP:0020077 decreased tyrosine 3-monooxygenase activity reduction in the ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine MP:0020078 decreased brain tyrosine 3-monooxygenase activity reduction in the ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine in the brain MP:0020079 increased incidence of epicardial mineralization increased incidence of mineral deposits in the epicardial tissue MP:0020080 increased bone mineralization increase in the rate at which minerals are deposited into bone MP:0020081 myocardium degeneration deterioration or the inflammation of the myocardium often caused by oxygen deprivation. It generally occurs as a result of obstruction of the blood supply and can trigger a heart attack MP:0020082 increased hippocampus volume deviation from the average range of the hippocampus volume compared to normal MP:0020083 decreased hippocampus volume decrease from the average range of the hippocampus volume compared to normal MP:0020084 short ears reduced length of the ears MP:0020085 long ears increased length of the ears MP:0020086 abnormal susceptibility to non-insulin-dependent diabetes an anomaly in the likelihood to develop non-insulin-dependent diabetes MP:0020087 increased susceptibility to non-insulin-dependent diabetes increased likelihood to develop non-insulin-dependent diabetes MP:0020088 decreased susceptibility to non-insulin-dependent diabetes decreased likelihood to develop non-insulin-dependent diabetes MP:0020089 increased susceptibility to diet-induced non-insulin dependent diabetes increased likelihood to develop diet-induced non-insulin-dependent diabetes MP:0020090 decreased susceptibility to diet-induced non-insulin dependent diabetes decreased likelihood to develop diet-induced non-insulin-dependent diabetes MP:0020091 abnormal susceptibility to diet-induced non-insulin dependent diabetes an anomaly in the likelihood to develop diet-induced non-insulin-dependent diabetes MP:0020092 abnormal susceptibility to aortic cartilaginous metaplasia an anomaly in the susceptibility to the transformation of cells comprising the aorta epithelium to arterial chondrocytes that express type II collagen, resulting in heterotopic formation of cartilage and may lead to calcification in the aorta MP:0020093 decreased susceptibility to aortic cartilaginous metaplasia decreased susceptibility to the transformation of cells comprising the aorta epithelium to arterial chondrocytes that express type II collagen, resulting in heterotopic formation of cartilage and may lead to calcification in the aorta MP:0020094 increased susceptibility to aortic cartilaginous metaplasia increased susceptibility to the transformation of cells comprising the aorta epithelium to arterial chondrocytes that express type II collagen, resulting in heterotopic formation of cartilage and may lead to calcification in the aorta MP:0020095 abnormal mean heart rate adaptation an anomaly in the mean of the physiological adaptations of the organisms heart rate in response to long term endurance training MP:0020096 high mean heart rate adaptation higher than normal mean of the physiological adaptations of the organisms heart rate in response to long term endurance training MP:0020097 low mean heart rate adaptation lower than normal mean of the physiological adaptations of the organisms heart rate in response to long term endurance training MP:0020098 abnormal susceptibility to diet-induced aortic fatty streak lesions an anomaly in the susceptibility to development of diet-induced fatty streak lesions, the earliest lesions seen with athersclerosis in arteries MP:0020099 increased susceptibility to diet-induced aortic fatty streak lesions increased susceptibility to development of diet-induced fatty streak lesions, the earliest lesions seen with athersclerosis in arteries MP:0020100 decreased susceptibility to diet-induced aortic fatty streak lesions decreased susceptibility to development of diet-induced fatty streak lesions, the earliest lesions seen with athersclerosis in arteries MP:0020101 abnormal hepatic glucose production an anomaly in the production of glucose in the liver MP:0020102 increased hepatic glucose production increased production of glucose in the liver MP:0020103 decreased hepatic glucose production decreased production of glucose in the liver MP:0020104 abnormal nitrate level altered level of nitrate ion in fluids and tissues MP:0020105 increased nitrate level increased level of nitrate ion in fluids and tissues MP:0020106 decreased nitrate level decreased level of nitrate ion in fluids and tissues MP:0020107 abnormal nitrite level altered level of nitrite ion in fluids and tissues MP:0020108 increased nitrite level increased level of nitrite ion in fluids and tissues MP:0020109 decreased nitrite level decreased level of nitrite ion in fluids and tissues MP:0020110 increased thromboxane level increased concentrations of thromboxane, a lipid that has a role in clot formation (thrombosis) MP:0020111 decreased thromboxane level decreased concentrations of thromboxane, a lipid that has a role in clot formation (thrombosis) MP:0020112 abnormal carcass lipid any anomaly in the total lipid content on the carcass of an organism MP:0020113 high carcass lipid increased total lipid content on the carcass of an organism MP:0020114 low carcass lipid decreased total lipid content on the carcass of an organism MP:0020115 abnormal sphingosine level any anomaly in the concentrations of sphingosine, an 18-carbon amino alcohol with an unsaturated hydrocarbon chain, which forms a primary part of sphingolipids, a class of cell membrane lipids that include sphingomyelin, an important phospholipid MP:0020116 increased sphingosine level increased concentrations of sphingosine, an 18-carbon amino alcohol with an unsaturated hydrocarbon chain, which forms a primary part of sphingolipids, a class of cell membrane lipids that include sphingomyelin, an important phospholipid MP:0020117 decreased sphingosine level decreased concentrations of sphingosine, an 18-carbon amino alcohol with an unsaturated hydrocarbon chain, which forms a primary part of sphingolipids, a class of cell membrane lipids that include sphingomyelin, an important phospholipid MP:0020118 abnormal alcohol dehydrogenase activity anomaly in the ability to catalyze the reaction: a primary alcohol + acceptor = an aldehyde + reduced acceptor MP:0020119 decreased alcohol dehydrogenase activity decreased ability to catalyze the reaction: a primary alcohol + acceptor = an aldehyde + reduced acceptor MP:0020120 increased alcohol dehydrogenase activity increased ability to catalyze the reaction: a primary alcohol + acceptor = an aldehyde + reduced acceptor MP:0020121 obsolete abnormal tyrosine 3-monooxygenase activity anomaly in the ability to catalyze the reaction: L-tyrosine + tetrahydrobiopterin + O2 = 3,4-dihydroxy-L-phenylalanine + 4-alpha-hydroxytetrahydrobiopterin + H2O MP:0020122 obsolete decreased tyrosine 3-monooxygenase activity decreased ability to catalyze the reaction: L-tyrosine + tetrahydrobiopterin + O2 = 3,4-dihydroxy-L-phenylalanine + 4-alpha-hydroxytetrahydrobiopterin + H2O MP:0020123 obsolete increased tyrosine 3-monooxygenase activity increased ability to catalyze the reaction: L-tyrosine + tetrahydrobiopterin + O2 = 3,4-dihydroxy-L-phenylalanine + 4-alpha-hydroxytetrahydrobiopterin + H2O MP:0020124 abnormal circulating HDL phospholipid level any anomaly in the amount of the complex of high density lipoprotein and phospholipid in the blood, serum, or plasma MP:0020125 increased circulating HDL phospholipid level increase in the concentration in the blood of HDL phospholipid MP:0020126 decreased circulating HDL phospholipid level decrease in the concentration in the blood of HDL phospholipid MP:0020127 abnormal circulating non-HDL phospholipid level any anomaly of the amount of phospholipid not complexed to high density lipropoteins in the blood, serum, or plasma MP:0020128 increased circulating non-HDL phospholipid level increase in the concentration in the blood of non-HDL phospholipid MP:0020129 decreased circulating non-HDL phospholipid level decrease in the concentration in the blood of non-HDL phospholipid MP:0020130 abnormal total fat pad weight anomaly in average total weight of the fat pad compared to controls MP:0020131 abnormal gallbladder volume any anomaly in the amount of space occupied by gallbladder lumen in the body MP:0020132 increased gallbladder volume greater than average amount of space occupied by gallbladder in the body MP:0020133 decreased gallbladder volume less than average amount of space occupied by gallbladder in the body MP:0020134 abnormal gallbladder size an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile MP:0020135 abnormal heart ventricle wall thickness anomaly in the depth of the cardiac wall of the heart ventricles MP:0020136 abnormal interventricular septum thickness an anomaly in the thickness of the wall between the two lower chambers of the heart compared to the control MP:0020137 decreased bone mineralization decrease in the rate at which minerals are deposited into bone MP:0020138 delayed bone mineralization late onset of the process by which minerals are deposited into bone MP:0020139 abnormal brain external capsule morphology any structural anomaly of the series of white matter fiber tracts in the brain that run between the most lateral segment of the lentiform nucleus and the claustrum; the white matter of the external capsule contains fibers known as corticocortical association fibers which are responsible for connecting the cerebral cortex to another cortical area; the capsule appears as a thin white sheet of white matter and provides a route for cholinergic fibers from the basal forebrain to the cerebral cortex; it eventually joins the internal capsule around the lentiform nucleus MP:0020140 increased brain external capsule size larger than the normal physical proportions of the series of white matter fiber tracts in the brain that run between the most lateral segment of the lentiform nucleus and the claustrum MP:0020141 decreased brain external capsule size smaller than the normal physical proportions of the series of white matter fiber tracts in the brain that run between the most lateral segment of the lentiform nucleus and the claustrum MP:0020142 increased anti-sperm antibody level elevated level of antibodies to sperm antigens, usually due to compromised Sertoli cell barrier (blood-testis barrier) function; ASAs may be found in the circulation, either free or as immune complexes, in seminal fluid and/or attached to various antigenic sites on the sperm surface (head, midpiece or tail) MP:0020143 abnormal adrenal gland x-zone size an anomaly in the size of the x-zone compared to the average on the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla MP:0020144 small adrenal gland x-zone reduced size of the x-zone compared to the average on the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla MP:0020145 enlarged adrenal gland x-zone increased size of the x-zone compared to the average on the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla MP:0020146 abnormal vascular endothelial cell proliferation anomaly in the ability of the cells that line the vasculature to undergo expansion by cell division MP:0020147 abnormal defecation amount anomaly in the amount of discharge of feces from the body compared to the control MP:0020148 abnormal susceptibility to induced morbidity/mortality anomaly in the amount of an external agent required to cause death or diseased state MP:0020149 abnormal mortality induced by ionizing radiation anomaly in the sensitivity to doses of ionizing radiation that include ultraviolet light, X-rays, or gamma rays, resulting in death MP:0020150 abnormal timing of vaginal opening anomaly in the age of the opening of the genital canal in a female compared to the control MP:0020151 abnormal circulating non-HDL cholesterol level any anomaly in the amount in the blood of non-HDL cholesterol MP:0020152 abnormal oocyte number anomaly in the number of germ cells in the female compared to the control MP:0020153 abnormal urine albumin level anomaly in the amount of albumin in the urine MP:0020154 impaired humoral immune response impaired response of the immune system that mediates secreted antibodies produced in B cells MP:0020155 enhanced humoral immune response enhanced response of the immune system that mediates secreted antibodies produced in B cells MP:0020156 multinucleated pancreatic acinar cells pancreatic acinar cells contain multiple nuclei MP:0020157 abnormal behavioral response to alcohol any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior MP:0020158 abnormal behavioral response to cocaine any anomaly in the behavioral response induced by cocaine, such as induced hyperactivity or stereotypic behavior MP:0020159 abnormal behavioral response to morphine any anomaly in the behavioral response induced by morphine, such as induced hyperactivity or stereotypic behavior MP:0020160 abnormal behavioral response to nicotine any anomaly in the behavioral response induced by nicotine, such as induced hyperactivity or stereotypic behavior MP:0020161 increased vascular endothelial cell proliferation increase in the expansion rate of any vascular endothelial cell population by cell division MP:0020162 decreased susceptibility to virus induced diabetes reduced likelihood that an organism will develop diabetes from a viral infection or from components of or toxins produced by a virus MP:0020163 increased susceptibility to virus induced diabetes increased likelihood that an organism will develop diabetes from a viral infection or from components of or toxins produced by a virus MP:0020164 abnormal quadriceps weight anomaly in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint MP:0020165 abnormal soleus weight anomaly in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot MP:0020166 abnormal tibialis anterior weight anomaly in the weight of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot MP:0020167 abnormal vertical activity altered ability or desire to jump or rear MP:0020168 decreased thyroid gland weight lower than average weight of the thyroid gland MP:0020169 increased thyroid gland weight higher than average weight of the thyroid gland MP:0020170 vacuolated thymus epithelium the presence of clear, sharply defined vacuoles in the thymus epithelium MP:0020171 abnormal IgA level deviation from the normal levels of immunoglobulin class A level MP:0020172 abnormal IgD level deviation from the normal levels of immunoglobulin class D level MP:0020173 abnormal IgE level deviation from the normal levels of immunoglobulin class E level MP:0020174 abnormal IgG level deviation from the normal levels of immunoglobulin class G level MP:0020175 abnormal IgG1 level deviation from the normal levels of immunoglobulin class G1 level MP:0020176 abnormal IgG2a level deviation from the normal levels of immunoglobulin class G2a level MP:0020177 abnormal IgG2b level deviation from the normal levels of immunoglobulin class G2b level MP:0020178 abnormal IgG2c level deviation from the normal levels of immunoglobulin class G2c level MP:0020179 abnormal IgG3 level deviation from the normal levels of immunoglobulin class G3 level MP:0020180 abnormal IgM level deviation from the normal levels of immunoglobulin class M level MP:0020181 obsolete abnormal body weight anomaly in the average weight compared to the control MP:0020182 abnormal body mass index anomaloy in the average of a measure of weight for height compared to the control MP:0020183 abnormal susceptibility to fungal infection a change in the likelihood that an organism will develop ill effects from a fungal infection or from components of or toxins produced by a fungi MP:0020184 abnormal susceptibility to parasitic infection a change in the likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by a parasite MP:0020185 abnormal susceptibility to viral infection a change in the likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus MP:0020186 abnormal susceptibility to bacterial infection a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria MP:0020187 abnormal susceptibility to prion infection altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is a major and necessary component MP:0020188 abnormal classified tumor incidence an anomaly in the expected number of tumors with a specific classification type in a given population in a given time period MP:0020189 abnormal adenoma incidence an anomaly in the expected number of a benign epithelial neoplasm with a glandular organization, occurring in a specific population in a given time period; this tumor type usually does not invade or infiltrate surrounding tissue but may remain a benign tumor or progress to malignancy MP:0020190 abnormal lung adenoma incidence an anomaly in the expected number of a benign epithelial neoplasm with a glandular organization arising in the lung, occurring in a specific population in a given time period MP:0020191 abnormal lymphocyte activation involved in immune response an anomaly in the morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response MP:0020192 decreased lymphocyte activation involved in immune response decreased change in the morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response MP:0020193 increased lymphocyte activation involved in immune response Increased change in the morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response MP:0020194 abnormal glycosphingolipid level any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body MP:0020195 obsolete increased sulphatide level increased concentrations of sulfatides, a class of sulfated galactosylceramides, in the body MP:0020196 obsolete decreased sulphatide level decreased concentrations of sulfatides, a class of sulfated galactosylceramides, in the body MP:0020197 decreased reticular tumor incidence less than the expected number of neoplams in the reticulum, usually in the form of a distinct mass, in a specific population in a given time period MP:0020198 decreased mononuclear phagocyte tumor incidence less than the expected number of neoplams in mononuclear phagocyte cells, in a specific population in a given time period MP:0020199 increased reticular tumor incidence greater than the expected number of neoplams in the reticulum, usually in the form of a distinct mass, in a specific population in a given time period MP:0020200 increased mononuclear phagocyte tumor incidence more than the expected number of neoplams in mononuclear phagocyte cells, in a specific population in a given time period MP:0020201 abnormal granulocyte number an anomaly in the number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils MP:0020202 abnormal macrophage cell number an anomaly in the number of macrophages MP:0020203 abnormal mast cell number an anomaly in the number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation MP:0020204 abnormal heart left ventricle weight anomaly in the average weight of the left ventricle compared to the control MP:0020205 abnormal heart right ventricle weight anomaly in the average weight of the right ventricle compared to the control MP:0020206 abnormal heart left atrium weight anomaly in the average weight of the heart left atrium compared to the control MP:0020207 abnormal heart right atrium weight anomaly in the average weight of the heart right atrium compared to the control MP:0020208 abnormal withers abnormal height of the ridge between the shoulder blades of a four-legged mammal MP:0020209 low withers low height of the ridge between the shoulder blades of a four-legged mammal MP:0020210 high withers high height of the ridge between the shoulder blades of a four-legged mammal MP:0020211 slow movement decreased rate or speed of the coordinated movements executed with a purpose MP:0020212 impaired leukocyte migration impaired ability of blood leukocytes to move within or between different tissues and organs of the body by binding to high endothelial venules (HEV), then tethering and rolling along the luminal aspects of HEV MP:0020213 enhanced leukocyte migration enhanced ability of blood leukocytes to move within or between different tissues and organs of the body by binding to high endothelial venules (HEV), then tethering and rolling along the luminal aspects of HEV MP:0020214 increased susceptibility to malignant hyperthermia increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine MP:0020215 impaired blood coagulation impaired ability of the blood to clot MP:0020216 decreased circulating complement protein level less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes MP:0020217 increased circulating complement protein level more than the normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes MP:0020218 abnormal tear production an anomaly in the amount of fluid produced in the eye MP:0020219 increased tear production increased production of the amount of fluid produced in the eye MP:0020220 decreased tear production decreased production of the amount of fluid produced in the eye MP:0020221 reduced foot pad pigmentation lack of color in the body of fat on the foot MP:0020222 abnormal alertness anomaly in the level of awareness or attentiveness MP:0020223 increased alertness increased or heightened awareness or attentiveness MP:0020224 decreased alertness decreased level of awareness or attentiveness MP:0020225 bone necrosis pathological death of cells or a portion of the bone; usually due to irreversible damage MP:0020226 decreased hemangioma incidence fewer than the expected number of benign tumors characterized by blood-filled spaces lined by benign endothelial cells, occurring in a specific population in a given time period; a cavernous hemangioma is characterized by large endothelial spaces (caverns), and a capillary hemangioma is characterized by small endothelial spaces MP:0020227 abnormal proline oxidase activity altered ability of proline oxidase to catalyze the reaction: L-proline + O2 + H2O = L-delta1-pyrroline-5-carboxylate + H2O2 MP:0020228 decreased proline oxidase activity decreased ability of proline oxidase to catalyze the reaction: L-proline + O2 + H2O = L-delta1-pyrroline-5-carboxylate + H2O2 MP:0020229 increased proline oxidase activity increased ability of proline oxidase to catalyze the reaction: L-proline + O2 + H2O = L-delta1-pyrroline-5-carboxylate + H2O2 MP:0020230 subcutaneous adipose tissue degeneration a retrogressive impairment of function or destruction of the adipose tissue layer beneath the skin MP:0020231 abnormal tyrosine aminotransferase level anomaly in the level of the enzyme present in the liver that catalyzes the conversion of tyrosine to 4-hydroxyphenylpyruvate MP:0020232 increased tyrosine aminotransferase level increased level of the enzyme present in the liver that catalyzes the conversion of tyrosine to 4-hydroxyphenylpyruvate MP:0020233 decreased tyrosine aminotransferase level decreased level of the enzyme present in the liver that catalyzes the conversion of tyrosine to 4-hydroxyphenylpyruvate MP:0020234 decreased basal metabolism decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state MP:0020235 black belted the appearance of a stripe of black fur around the circumference of the abdomen MP:0020236 abnormal proline level abnormal concentration of proline and/or its metabolic derivatives, derived from the amino acid L-glutamate MP:0020237 increased proline level higher than normal concentration of proline and its metabolic derivatives, derived from the amino acid L-glutamate MP:0020238 decreased proline level lower than normal concentration of proline and its metabolic derivatives, derived from the amino acid L-glutamate MP:0020239 abnormal skeletal muscle cell apoptosis change in the timing or the number of skeletal muscle cells undergoing programmed cell death MP:0020240 increased skeletal muscle cell apoptosis increase in the number of skeletal muscle cells undergoing programmed cell death MP:0020241 decreased skeletal muscle cell apoptosis decrease in the number of skeletal muscle cells undergoing programmed cell death MP:0020242 increased autopod size larger than average size of the autopod MP:0020243 abnormal pyruvate kinase activity anomaly in the ability to transfer of a phosphate group from phosphoenolpyruvate to ADP, yielding one molecule of pyruvate and one molecule of ATP MP:0020244 increased pyruvate kinase activity increased ability to transfer of a phosphate group from phosphoenolpyruvate to ADP, yielding one molecule of pyruvate and one molecule of ATP MP:0020245 decreased pyruvate kinase activity reduced ability to the transfer of a phosphate group from phosphoenolpyruvate to ADP, yielding one molecule of pyruvate and one molecule of ATP MP:0020246 abnormal circulating arginase level aberrant concentration in the blood of the enzyme that catalyzes the conversion of arginine + H2O to ornithine + urea MP:0020247 increased circulating arginase level increased concentration in the blood of the enzyme that catalyzes the conversion of arginine + H2O to ornithine + urea MP:0020248 decreased circulating arginase level decreased concentration in the blood of the enzyme that catalyzes the conversion of arginine + H2O to ornithine + urea MP:0020249 abnormal argininosuccinate synthetase level aberrant concentration of the enzyme that catalyzes the synthesis of argininosuccinate from citrulline and aspartate. MP:0020250 increased argininosuccinate synthetase level increased concentration of the enzyme that catalyzes the synthesis of argininosuccinate from citrulline and aspartate. MP:0020251 decreased argininosuccinate synthetase level decreased concentration of the enzyme that catalyzes the synthesis of argininosuccinate from citrulline and aspartate. MP:0020252 abnormal collagen level abnormal level of the main structural protein of the various connective tissues in animals MP:0020253 increased collagen level increased level of the main structural protein of the various connective tissues in animals MP:0020254 decreased collagen level decreased level of the main structural protein of the various connective tissues in animals MP:0020255 absent circulating factor XII protein undetectable levels in the blood of the enzyme that is part of the coagulation cascade and activates factor XI and prekallikrein in vitro MP:0020256 abnormal circulating factor XII level aberrant concentration in the blood of the enzyme that is part of the coagulation cascade and activates factor XI and prekallikrein in vitro MP:0020257 increased circulating factor XII level increased concentration in the blood of the enzyme that is part of the coagulation cascade and activates factor XI and prekallikrein in vitro MP:0020258 decreased circulating factor XII level decreased concentration in the blood of the enzyme that is part of the coagulation cascade and activates factor XI and prekallikrein in vitro MP:0020259 abnormal beta-galactosidase level abnormal level of the hydrolase enzyme that catalyzes the hydrolysis of beta-galactosides into monosaccharides MP:0020260 absent beta-galactosidase protein undetectable levels of the hydrolase enzyme that catalyzes the hydrolysis of beta-galactosides into monosaccharides MP:0020261 increased beta-galactosidase level increased level of the hydrolase enzyme that catalyzes the hydrolysis of beta-galactosides into monosaccharides MP:0020262 decreased beta-galactosidase level decreased level of the hydrolase enzyme that catalyzes the hydrolysis of beta-galactosides into monosaccharides MP:0020263 abnormal galactosylceramidase level abnormal level of the enzyme that removes galactose from ceramide derivatives (galactocerebrosides) MP:0020264 increased galactosylceramidase level increased level of the enzyme that removes galactose from ceramide derivatives (galactocerebrosides). MP:0020265 decreased galactosylceramidase level decreased level of the enzyme that removes galactose from ceramide derivatives (galactocerebrosides). MP:0020266 absent galactosylceramidase undetectable level of the enzyme that removes galactose from ceramide derivatives (galactocerebrosides). MP:0020267 abnormal beta-mannosidase level abnormal level of the enzyme that catalyses the reaction: hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides MP:0020268 increased beta-mannosidase level increased level of the enzyme that catalyses the reaction: hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides MP:0020269 decreased beta-mannosidase level decreased level of the enzyme that catalyses the reaction: hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides MP:0020270 abnormal branched-chain alpha-keto acid dehydrogenase level abnormal level of the enzyme that catalyzes the oxidative decarboxylation of branched, short-chain alpha-ketoacids MP:0020271 increased branched-chain alpha-keto acid dehydrogenase level increased level of the enzyme that catalyzes the oxidative decarboxylation of branched, short-chain alpha-ketoacids MP:0020272 decreased branched-chain alpha-keto acid dehydrogenase level decreased level of the enzyme that catalyzes the oxidative decarboxylation of branched, short-chain alpha-ketoacids MP:0020273 abnormal N-acetylgalactosamine-4-sulfatase level abnormal level of the enzyme that catalyzes the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate MP:0020274 increased N-acetylgalactosamine-4-sulfatase protein level increased level of the enzyme that catalyzes the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate MP:0020275 decreased N-acetylgalactosamine-4-sulfatase protein level decreased level of the enzyme that catalyzes the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate MP:0020276 abnormal glycogen debranching enzyme level abnormal level of the enzyme that helps facilitate the breakdown of glycogen by mobilize glucose reserves from glycogen deposits in the muscles and liver MP:0020277 increased glycogen debranching enzyme level increased level of the enzyme that helps facilitate the breakdown of glycogen by mobilize glucose reserves from glycogen deposits in the muscles and liver MP:0020278 decreased glycogen debranching enzyme level decreased level of the enzyme that helps facilitate the breakdown of glycogen by mobilize glucose reserves from glycogen deposits in the muscles and liver MP:0020279 abnormal creatine kinase level abnormal level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine MP:0020280 increased creatine kinase level increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine MP:0020281 decreased creatine kinase level decreased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine MP:0020282 abnormal hydroxymethylbilane synthase level abnormal level of the enzyme that catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane while releasing four ammonia molecules MP:0020283 increased hydroxymethylbilane synthase level increased level of the enzyme that catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane while releasing four ammonia molecules MP:0020284 decreased hydroxymethylbilane synthase level decreased level of the enzyme that catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane while releasing four ammonia molecules MP:0020285 abnormal palmitoyl-(protein) hydrolase level abnomal level of the enzyme that removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation MP:0020286 increased palmitoyl-(protein) hydrolase level increased level fo the enzyme that removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation MP:0020287 decreased palmitoyl-(protein) hydrolase level reduced level fo the enzyme that removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation MP:0020288 ectopic limbs more than the expected number of limbs differentiate during early embryogenesis MP:0020289 astasia the inability to stand due to muscular incoordination MP:0020290 floppy ears ears that are limp or hanging loosely MP:0020291 abnormal dystrophin level deviation from the normal level of the cytoplasmic protein that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane MP:0020292 decreased dystrophin level reduced level of the cytoplasmic protein that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane MP:0020293 increased dystrophin level greater level of the cytoplasmic protein that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane MP:0020294 abnormal guanylate cyclase activating protein-2 level abnormal level of the enzyme that accelerates the recovery of rods and cones from excitation by light in response to calcium proteins MP:0020295 decreased guanylate cyclase activating protein-2 level decreased level of the enzyme that accelerates the recovery of rods and cones from excitation by light in response to calcium proteins MP:0020296 increased guanylate cyclase activating protein-2 level increased level of the enzyme that accelerates the recovery of rods and cones from excitation by light in response to calcium proteins MP:0020297 abnormal UDP-N-acetylglucosamine-1-phosphotransferase level abnormal level of the enzyme that catalyzes the chemical reaction: UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose to UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose MP:0020298 decreased UDP-N-acetylglucosamine-1-phosphotransferase level decreased level of the enzyme that catalyzes the chemical reaction: UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose to UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose MP:0020299 increased UDP-N-acetylglucosamine-1-phosphotransferase level increased level of the enzyme that catalyzes the chemical reaction: UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose to UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose MP:0020300 long tongue increased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor MP:0020301 short tongue decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor MP:0020302 large horns increased size of the one or more of the hard pointed parts that grows on the head of some animals MP:0020303 small horns decreased size of the one or more of the hard pointed parts that grows on the head of some animals MP:0020304 abnormal horn morphology any structural anomaly of the hard pointed parts that grows on the head of some animals MP:0020305 abnormal horn pigmentation irregular or unusual pigmentation of the hard pointed parts that grows on the head of some animals MP:0020306 absent horns lack of the hard pointed parts that grows on the head of some animals MP:0020307 abnormal creatine kinase activity altered ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). MP:0020308 decreased creatine kinase activity reduced ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). MP:0020309 increased creatine kinase activity increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). MP:0020310 abnormal hydroxymethylbilane synthase activity altered ability of to catalyze the reaction: H(2)O + 4 porphobilinogen = hydroxymethylbilane + 4 NH(4)(+). MP:0020311 decreased hydroxymethylbilane synthase activity reduced ability of to catalyze the reaction: H(2)O + 4 porphobilinogen = hydroxymethylbilane + 4 NH(4)(+). MP:0020312 increased hydroxymethylbilane synthase activity increased ability of to catalyze the reaction: H(2)O + 4 porphobilinogen = hydroxymethylbilane + 4 NH(4)(+). MP:0020313 abnormal palmitoyl-(protein) hydrolase activity altered ability of to catalyze the reaction: palmitoyl-protein + H2O = palmitate + protein. MP:0020314 decreased palmitoyl-(protein) hydrolase activity reduced ability of to catalyze the reaction: palmitoyl-protein + H2O = palmitate + protein. MP:0020315 increased palmitoyl-(protein) hydrolase activity increased ability of to catalyze the reaction: palmitoyl-protein + H2O = palmitate + protein. MP:0020316 decreased vascular endothelial cell proliferation decrease in the expansion rate of any vascular endothelial cell population by cell division MP:0020317 abnormal vascular endothelial cell adhesion altered ability of an endothelial cell in the vasculature to adhere to another cell or to a non-cellular component of the environment MP:0020318 increased vascular endothelial cell adhesion greater than expected ability of an endothelial cell in the vasculature to adhere to another cell or to a non-cellular component of the environment MP:0020319 decreased vascular endothelial cell adhesion less than expected ability of an endothelial cell in the vasculature to adhere to another cell or to a non-cellular component of the environment MP:0020320 abnormal vascular endothelial cell apoptosis change in the timing or the number of vascular endothelial cells undergoing programmed cell death MP:0020321 increased vascular endothelial cell apoptosis increase in the timing or the number of vascular endothelial cells undergoing programmed cell death MP:0020322 decreased vascular endothelial cell apoptosis decrease in the timing or the number of vascular endothelial cells undergoing programmed cell death MP:0020323 abnormal heart apex size any anomaly in the proportions of the lowest superficial part of the heart, normally directed downward, forward, and to the left, and overlapped by the left lung and pleura; the heart apex is formed by the inferolateral part of the left ventricle and responsible for regulating ventricle contraction MP:0020324 jejunum polyps development of numerous growths that are connected to and protrude from the mucous membrane of the jejunum MP:0020325 abnormal beige fat cell morphology any structural anomaly of fat cells that are beige in color, thermogenic, and which differentiates in white fat tissue from a Myf5-negative progenitor MP:0020326 dilated capillary stretched or widened aperture of the luminal space of one or more of the small branching blood vessels that form a network between the arterioles and venules MP:0020327 abnormal capillary branching pattern any changes in the placement, morphology or number of divisions of the capillaries MP:0020328 abnormal capillary density any anomaly in the number of capillaries in a given cross-sectional area of a tissue MP:0020329 decreased capillary density reduction in the number of capillaries in a given cross-sectional area of a tissue MP:0020330 increased capillary density increase in the number of capillaries in a given cross-sectional area of a tissue MP:0020331 increased capillary tortuosity increase in the degree of twisting of capillaries MP:0020332 impaired leukocyte tethering or rolling reduced ability or inability in the transient adhesive interactions between leukocytes and endothelial cells lining blood vessels mediated primarily by selectins and which are typically the first step in cellular extravasation MP:0020333 enhanced leukocyte tethering or rolling enhancement of the transient adhesive interactions between leukocytes and endothelial cells lining blood vessels mediated primarily by selectins and which are typically the first step in cellular extravasation MP:0020334 abnormal melanophage morphology any structural anomaly in the melanin-containing macrophages that obtain the pigment by phagocytosis of melanosomes MP:0020335 abnormal dentate gyrus neuron dendrite morphology any structural anomaly of the highly branched tree-like process of a neuron in one of two interlocking gyri of the hippocampus formation MP:0020336 abnormal motor neuron dendrite morphology any structural anomaly of the highly branched tree-like process of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses MP:0020337 abnormal pyramidal neuron dendrite morphology structural anomaly of the highly branched tree-like process of the neurons that have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base MP:0020338 abnormal hippocampal pyramidal neuron dendrite morphology structural anomaly of the highly branched tree-like process of the hippocampal neurons that have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base MP:0020339 abnormal retina ganglion cell dendrite morphology any structural anomaly of the highly branched tree-like process of neurons in the retina that receive neural inputs via bipolar, horizontal and amacrine cells MP:0020340 abnormal inhibitory learning anomaly in the process by which a subject learns to suppress a prior learned response MP:0020341 abnormal circulating hyaluronic acid level any anomaly in the amount in the blood of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine MP:0020342 small optic nerve decreased size of the second cranial nerve which is responsible for conveying visual information from the retina to the brain; it extends from the retina to the optic chiasma where part of its fibers become the optic tract and cross to the opposite side and pass to the geniculate bodies MP:0020343 abnormal ureteric bud number anomaly in the number of the epithelial swelling on the metanephric duct that elongates to invade the adjacent metanephric mesenchyme MP:0020344 abnormal susceptibility to injury induced morbidity/mortality differences from the expected moribund state caused by trauma, especially that by physical means MP:0020345 abnormal myocardial fiber currents any anomaly in the electrical currents produced by cardiac ion channels, typically measured using whole-cell patch-clamp techniques MP:0020346 abnormal myocardial fiber calcium currents any anomaly in the electrical currents produced by cardiac calcium ion channels, typically measured using whole-cell patch-clamp techniques MP:0020347 abnormal myocardial fiber sodium currents any anomaly in the electrical currents produced by cardiac sodium ion channels, typically measured using whole-cell patch-clamp techniques MP:0020348 decreased olfactory sensory neuron number decreased number of the neurons in the olfactory epithelium that are activated by specific odorants MP:0020349 abnormal dendritic cell migration any anomaly in the movement of dendritic cells from one site to another MP:0020350 fused pharyngeal arches failure of two or more pharyngeal arches to fully separate MP:0020351 decreased vocalization decrease in the production of vocal sound MP:0020352 abnormal endoplasmic reticulum physiology any functional anomaly of the irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells MP:0020353 abnormal endoplasmic reticulum stress any anomaly in the accumulation of misfolded or unfolded proteins in the endoplasmic reticulum lumen; this accumulation maybe stimulated by genetic or enviromental factors MP:0020354 increased endoplasmic reticulum stress increase in the accumulation of misfolded or unfolded proteins in the endoplasmic reticulum lumen; this accumulation may be stimulated by genetic or environmental factors MP:0020355 abnormal Sertoli cell barrier morphology any structural anomaly of the physical barrier found between adjacent Sertoli cells within the seminiferous tubules; the sertoli cell barrier consists of several types of cellular junctions including tight junctions, gap junctions and adhesion junctions, and divides the seminiferous tubules into the basal and apical (adluminal) compartments MP:0020356 abnormal Sertoli cell barrier function any functional anomaly of the physical barrier found between the blood vessels and the seminiferous tubules of the testes; this barrier between Sertoli cells is composed of tight junctions, basal ectoplasmic specializations, and desmosome-like junctions MP:0020357 abnormal excitatory synapse morphology any structural anomaly of a synapse in which an action potential in the presynaptic cell increases the probability of an action potential occurring in the postsynaptic cell MP:0020358 abnormal inhibitory synapse morphology any structural anomaly in a synapse in which an action potential in the presynaptic cell reduces the probability of an action potential occurring in the postsynaptic cell MP:0020359 abnormal ribbon synapse morphology any structural anomaly in a synapse characterized by an electron-dense ribbon, lamella (bar) or spherical body in the presynaptic process cytoplasm MP:0020360 abnormal asymmetric synapse morphology any structural anomaly in a type of synapse occurring between an axon and a dendritic spine or dendritic shaft; asymmetric synapses, the most abundant synapse type in the central nervous system, involve axons that contain predominantly spherical vesicles and contain a thickened postsynaptic density MP:0020361 abnormal symmetric synapse morphology any structurla anomaly in synapse that lacks an electron dense postsynaptic specialization; in vertebtrates, these occur primarily on dendrite shafts and neuronal cell bodies and involve persynapses containing clusters of predominantly flattened or elongated vesicles and are typcially inhibitory MP:0020362 abnormal male germ cell physiology any functional anomaly of male germ cells whether they are undifferentiated or fully differentiated MP:0020363 abnormal germ cell physiology any functional anomaly of the germ cell, that is, any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated MP:0020364 abnormal female germ cell physiology any functional anomaly female germ cells whether they are undifferentiated or fully differentiated MP:0020365 increased brain iron level increase in the amount of iron present in the brain tissue MP:0020366 decreased brain iron level reduction in the amount of iron present in the brain tissue MP:0020367 increased heart iron level increase in the amount of iron present in the heart tissue MP:0020368 decreased heart iron level reduction in the amount of iron present in the heart tissue MP:0020369 increased intestinal iron level increase in the amount of iron present in the large or small intestinal tissue MP:0020370 abnormal glymphatic system morphology any structural anomaly in the macroscopic waste clearance system that utilizes a unique system of perivascular tunnels, formed by astroglial cells, to promote efficient elimination of soluble proteins and metabolites from the central nervous system MP:0020371 abnormal glymphatic system physiology any functional anomaly in the macroscopic waste clearance system that utilizes a unique system of perivascular tunnels, formed by astroglial cells, to promote efficient elimination of soluble proteins and metabolites from the central nervous system MP:0020372 abnormal tetrachloroethene metabolism altered ability to metabolize tetrachloroethene, a chlorinated olefin solvent with a variety of industrial applications, a ubiquitous contaminant of ground water, soil, ambient and urban air, and is one of the most common pollutants present in many hazardous waste sites MP:0020373 abnormal blood vessel lumen formation any anomaly in the process in which a developing blood vessel forms an endothelial lumen through which blood will flow; in vertebrates, the lumen of all blood vessels is lined and formed by endothelial cells; in both vasculogenesis and angiogenesis, lumen formation takes place in a cord of endothelial cells and involves a complex mechanism composed of endothelial cell repulsion at the cell-cell contacts within the endothelial cell cords, junctional rearrangement, and endothelial cell shape change MP:0020374 abnormal nocifensive behavior any anomaly in a behavioral response to a noxious signal typically mediated by nociception MP:0020375 abnormal costotransverse joint morphology any anomaly in the structure of the articulation between the facet of the tubercle of a rib and the transverse process of a thoracic vertebra MP:0020376 abnormal starburst amacrine cell morphology any structural anomaly of the retinal amacrine cells with a characteristic starburst shape of the dendritic arbor and that secrete both the the inhibitory neurotransmitter gamma-aminobutyric acid and the excitatory neurotransmitter acetylcholine MP:0020377 abnormal dopaminergic amacrine cell morphology any structural anomaly of the retinal amacrine cells that express dopamine and are often identified by immunostaining for expression of tyrosine hydroxylase MP:0020378 abnormal cell cytoskeleton morphology any anomaly in the structure of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm MP:0020379 abnormal sucrose solution preference any anomaly in the desire to drink water containing sucrose compared to consuming straight water MP:0020380 abnormal galactolipid level any anomaly in the concentrations of the glycolipids whose sugar group is galactose and that do not have nitrogen in their composition in the body MP:0020381 muscle gating pore current an anomalous non-selective cation current that is unaffected by the normal pore blockers and therefore represents ion movement through a permeation pathway in voltage-sensor domain of the protein rather than through the central pore MP:0020382 increased kidney epithelial cell primary cilium length increased length of the cilia on cells of the renal tubule or collecting duct MP:0020383 decreased kidney epithelial cell primary cilium length decreased length of the cilia on cells of the renal tubule or collecting duct MP:0020384 absent kidney epithelial cell primary cilium absence of non-motile cilia on cells of the renal tubule or collecting duct MP:0020385 decreased intestinal iron level reduction in the amount of iron present in the large or small intestinal tissue MP:0020386 adipose tissue inflammation local accumulation of fluid, plasma proteins, and leukocytes in adipose tissue MP:0020387 abnormal radial glial cell number anomaly in the number of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult MP:0020388 decreased radial glial cell number reduction in the number of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult MP:0020389 increased radial glial cell number increase in the number of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult MP:0020390 abnormal radial glial cell endfoot morphology any structural anomaly of the tip of the elongated basal process that extends from the cell body of a radial glial cell through the entire cortical wall; the tip of the basal process, known as the basal endfoot, attaches to the pial basement membrane MP:0020391 radial glial endfoot detachment detachment of the radial glia cell endfoot from the pial basement membrane MP:0020392 abnormal radial glial cell apoptosis change in the timing or the number of radial glial cells undergoing programmed cell death MP:0020393 increased neuronal precursor proliferation increase in the ability of a neuroblast population to undergo rapid expansion by cell division MP:0020394 decreased neuronal precursor proliferation reduction in the ability of a neuroblast population to undergo rapid expansion by cell division MP:0020395 abnormal response to social novelty any anomaly in the interaction of an individual with a familiar versus a novel individual of the same species; in mouse the typical behavior is for increased interaction with the novel individual MP:0020396 abnormal social recognition any anomaly in the ability of an individual to recognize another individual of the same species during repeated encounters MP:0020397 abnormal megakaryocyte physiology any functional anomaly in the giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm MP:0020398 abnormal megakaryocyte emperipolesis any anomaly in the process by which a a megakaryocyte is penetrated by another living cell; unlike in phagocytosis the engulfed cell remains viable and may exit the megakaryocyte without damage to either cell MP:0020399 enhanced megakaryocyte emperipolesis an increase in the process by which a a megakaryocyte is penetrated by another living cell MP:0020400 cystinuria excretion of excessive amounts of cystine in the urine MP:0020401 argininuria excretion of excessive amounts of arginine in the urine MP:0020402 ornithinuria excretion of excessive amounts of ornithine in the urine MP:0020403 lysinuria excretion of excessive amounts of lysine in the urine MP:0020404 prolinuria excretion of excessive amounts of proline in the urine MP:0020405 taurinuria excretion of excessive amounts of taurine in the urine MP:0020406 hyperthreoninuria excretion of excessive amounts of threonine in the urine MP:0020407 abnormal placental thrombosis any anomaly in the formation or presence of one or more thrombi within the blood vessel network of the placenta MP:0020408 abnormal susceptibility to induced thrombosis any anomaly in the formation of thrombi following stimulation of thrombosis by an external agent MP:0020409 abnormal cardiac thrombosis any anomaly in the formation or presence of one or more thrombi in the heart MP:0020410 increased liposarcoma incidence greater than the expected number of malignant tumors derived from primitive or embryonal lipoblastic cells; these may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid, round-celled, or pleomorphic MP:0020411 increased abdominal adipose tissue amount increase in amount of adipose tissue associated with internal organs MP:0020412 abnormal amnion physiology any functional anomaly of the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected MP:0020413 increased amnion apoptosis increase in the number of cells of the amnion undergoing programmed cell death MP:0020414 abnormal fibroblast physiology any functional anomaly in the cellular physiological processes carried out by a fibroblast cell population MP:0020415 abnormal fibroblast chemotaxis any anomaly in the directed movement of a fibroblast cell population guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) MP:0020416 decreased fibroblast chemotaxis reduction in the directed movement response of a fibroblast cell population guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) MP:0020417 increased fibroblast chemotaxis increase in the directed movement response of a fibroblast cell population guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) MP:0020418 increased cardiac muscle relaxation greater than the normal ability of the cardiac/heart muscle to lengthen following contractions, often measured by dP/dt min MP:0020419 decreased cardiac muscle relaxation inability or reduced ability of the cardiac/heart muscle to lengthen following contractions, often measured by dP/dt min MP:0020420 abnormal freezing behavior any anomaly in the behavior defined as total cessation of movement apart from respiration or eye movement with the animal remaining alert with strong muscle tone; typically a response to potential danger MP:0020421 increased freezing behavior an elevated display, frequency, or duration of freezing behavior MP:0020422 decreased freezing behavior a decreased display, frequency, or duration of freezing behavior MP:0020423 abnormal mitochondrial biogenesis Any anomaly in the the growth and division of pre-existing mitochondria. MP:0020424 increased kindling response increased epileptogenic changes, normally induced by daily sub threshold electrical brain stimulation MP:0020425 abnormal retinal bipolar cell electrophysiology any functional anomaly of the retinal biopolar cells as determined through electrophysiological recordings from single cells or summary recordings from multiple cells MP:0020426 abnormal beige fat cell physiology any functional anomaly of fat cells that are beige in color, thermogenic, and which differentiates in white fat tissue from a Myf5-negative progenitor MP:0020427 increased hepatocyte karyomegaly an increase in the number or proportion of liver cells with enlarged nuclei MP:0020428 abnormal conditioned place aversion behavior anomaly in the ability of an animal to learn and remember an association between an unpleasant or punishing stimuli with a neutral, unchanging environment MP:0020429 abnormal platelet alpha-granule number altered number of the most abundant secretory organelle found in blood platelets, and which store adhesive molecules such as von Willebrand factor and fibrinogen, growth factors and inflammatory and angiogenic mediators, which play crucial roles in inflammatory responses and tumor genesis MP:0020430 increased platelet alpha-granule number increased number of platelet alpha-granules MP:0020431 decreased platelet alpha-granule number decreased number of platelet alpha-granules MP:0020432 decreased platelet dense granule number decreased number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin MP:0020433 increased platelet dense granule number increased number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin MP:0020434 increased astrocyte size increase in the size of the large neuroglial (macroglial) cells in the central nervous system MP:0020435 decreased astrocyte size decrease in the size of the large neuroglial (macroglial) cells in the central nervous system MP:0020436 abnormal astrocyte size anomaly in the size of the large neuroglial (macroglial) cells in the central nervous system MP:0020437 abnormal social play behavior behavior performed in the absence of normal stimuli or behavior elicited by normal stimuli but not followed to the completion of the ritualized behavior pattern that is associated with the socialization of an individual into the group MP:0020438 decreased papilloma incidence fewer than the expected number of benign tumors consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic epithelial cells occurring in a specific population in a given time period MP:0020439 absent b-wave absence of the wave in the electroretinogram that reflects the health of the inner layers of the retina, including the ON bipolar cells and the Muller cells MP:0020440 abnormal front foot hair pigmentation an anomaly in the expected color gradient of hair covering the metacarpals and phalanges MP:0020441 rhegmatogenous retina detachment a retinal detachment resulting from a break in the retina that allows vitreal fluid to pass into and accumulate in the subretinal space MP:0020442 serous retina detachment a retinal detachment resulting from accumulation of fluid between the retina and retinal pigment epithelium in the absence of a retinal tear MP:0020443 tractional retina detachment a retinal detachment caused by fibrous or fibrovascular tissue pulling the neuroretina away from the retinal pigment epithelium MP:0020444 abnormal intestine apoptosis change in the timing or the number of intestinal cells undergoing programmed cell death MP:0020445 abnormal NAD(P)H oxidase activity any anomaly in the ability to catalyze the reaction: NAD(P)H + H+ + O2 = NAD(P)+ + hydrogen peroxide MP:0020446 increased NAD(P)H oxidase activity greater ability to catalyze the reaction: NAD(P)H + H+ + O2 = NAD(P)+ + hydrogen peroxide MP:0020447 decreased NAD(P)H oxidase activity reduced ability to catalyze the reaction: NAD(P)H + H+ + O2 = NAD(P)+ + hydrogen peroxide MP:0020448 increased microglial cell activation increase in the change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form MP:0020449 decreased microglial cell activation decrease in the change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form MP:0020450 abnormal sperm progressive motility any anomaly in the ability of sperm to move in a more or less straight line MP:0020451 decreased sperm progressive motility decrease in the ability of sperm to move in a more or less straight line MP:0020452 abnormal axon radial sorting any anomaly in the process by which immature Schwann cells surround axons of mixed caliber and send cytoplasmic processes that resemble lamellipodia between axons, to progressively choose and segregate the larger axons at the periphery of the bundle MP:0020453 abnormal erythrocyte aggregation any anomaly in the ability of an erythrocyte to adhere to one or more other erythrocytes via adhesion molecules MP:0020454 decreased erythrocyte aggregation decrease in the ability of an erythrocyte to adhere to one or more other erythrocytes via adhesion molecules MP:0020455 increased erythrocyte aggregation increase in the ability of an erythrocyte to adhere to one or more other erythrocytes via adhesion molecules MP:0020456 decreased myelin sheath amount reduction in the amount of myelin surrounding nerve fibers or axons MP:0020457 abnormal myelin sheath amount any anomaly in the amount of myelin surrounding nerve fibers or axons MP:0020458 increased myelin sheath amount increase in the amount of myelin surrounding nerve fibers or axons MP:0020459 abnormal gum morphology any structural anomaly of the fibrous investing tissue, covered by keratinized epithelium, that immediately surrounds a tooth and is contiguous with its periodontal ligament and with the mucosal tissues of the mouth MP:0020460 abnormal gum epithelium morphology any structural anomaly in the stratified squamous epithelium of the gums MP:0020461 superior semicircular canal dehiscence absence of part of the temporal bone overlying the superior semicircular canal facing toward the dura of the middle cranial fossa creating a third mobile window MP:0020462 abnormal megakaryocyte progenitor cell number any anomaly in the number of the progenitor cells of the thrombocytic (platelet) line of cells MP:0020463 increased megakaryocyte progenitor cell number increase in the number of the progenitor cells of the thrombocytic (platelet) line of cells MP:0020464 decreased megakaryocyte progenitor cell number decrease in the number of the progenitor cells of the thrombocytic (platelet) line of cells MP:0020465 abnormal megakaryocyte progenitor cell physiology any functional anomaly in the earliest cytologically identifiable precursor in the thrombocytic series MP:0020466 increased megakaryocyte progenitor cell proliferation anomaly in the ability of the progenitor cells of the thrombocytic (platelet) line of cells to undergo expansion by cell division MP:0020467 abnormal circadian behavior any anomaly in the specific behavior of an organism that recurs with a regularity of approximately 24 hours MP:0020468 abnormal circadian behavior period any change in the cycle length of a behavior expressed when exposed to constant conditions without temporal cues MP:0020469 prolonged circadian behavior period increase in the cycle length of a behavior expressed when exposed to constant conditions without temporal cues MP:0020470 shortened circadian behavior period decrease in the cycle length of a behavior expressed when exposed to constant conditions without temporal cues MP:0020471 abnormal circadian behavior persistence anomaly in the ability for an animal to retain a circadian behavior when time cues are removed MP:0020472 arrhythmic circadian behavior persistence loss of a behavioral rhythmic pattern upon removal of time cues MP:0020473 abnormal circadian behavior phase anomaly in the phase relationship between a temporal synchronizing event (such as light cycle) and a behavioral phase reference point of an animal (such as activity onset) MP:0020474 advanced circadian behavior phase increase in the phase relationship between a temporal synchronizing event (such as light cycle) and a behavioral phase reference point of an animal (such as activity onset) MP:0020475 delayed circadian behavior phase decrease in the phase relationship between a temporal synchronizing event (such as light cycle) and a behavioral phase reference point of an animal (such as activity onset) MP:0020476 abnormal circardian behavior entrainment anomaly in the synchronization of a circadian behavior to environmental time cues such as light MP:0020477 abnormal locomotor circadian rhythm any anomaly in the rhythm of the locomotor activity of an organism during its 24 hour activity cycle MP:0020478 abnormal circadian sleep/wake cycle any anomaly in the cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm MP:0020479 abnormal circadian hormone homeostasis any anomaly in the process in which an organism modulates its hormone levels at different values with a regularity of approximately 24 hours MP:0020480 abnormal ultradian rhythm behavior any anomaly in the specific behavioral actions or reactions of an organism that recur with a regularity more frequent than every 24 hours MP:0020481 abnormal basilar artery development aberrant formation or patterning or incomplete differentiation of the unpaired artery that is formed by the union of the two vertebral arteries, runs forward within the skull just under the pons, divides into the two posterior cerebral arteries, and supplies the pons, cerebellum, posterior part of the cerebrum, and the inner ear MP:0020482 abnormal brain vascular topology abnormal position of the blood vessels of the brain in relation to other structures MP:0020483 abnormal brain artery topology abnormal position of the arteries of the brain in relation to other structures MP:0020484 abnormal brain internal capsule topology abnormal position of the brain internal capsule MP:0020485 abnormal inferior vena cava topology abnormal position of the inferior vena cava MP:0020486 abnormal lens topology abnormal position or orientation of the lens in relation to other structures of the eye MP:0020487 abnormal middle cerebral artery morphology any structural anomaly of the major paired arteries that arise from the internal carotid artery and supply blood to a portion of the frontal lobe and the lateral surface of the temporal and parietal lobes MP:0020488 abnormal middle cerebral artery origin any anomaly in the position from which the middle cerebral artery arises MP:0020489 abnormal ophthalmic artery morphology any structural anomaly in the artery that arises from the internal carotic artery medial to the anterior clinoid process which branches to supply the eye and other structures in the orbit with blood MP:0020490 abnormal ophthalmic artery origin any anomaly in the position from which the opthalmic artery arises MP:0020491 abnormal ovary topology any anomaly in the position of the ovary in relation to other structures MP:0020492 abnormal superior mesenteric vein topology any anomaly in the position of the superior mesenteric vein in relation to other structures MP:0020493 absent inferior vena cava absence of the entire length of the principal vein draining blood from the lower portion of the body MP:0020494 left sided inferior vena cava the infrarenal segment of the inferior vena cava is present on the left side of the body instead of on the right side; typically as a result of regression of the right supracardinal vein and persistence of the left supracardinal vein MP:0020495 abnormal embryonic lymph sac morphology any structural anomaly of the population of lymphatic endothelial cell precursors that will form the lymph vessels MP:0020496 absent motoric part of trigeminal nerve absence of the part of the trigeminal nerve containing motor fibers, this derives from the basal plate of the embryonic pons and goes into the mandibular branch of the trigeminal nerve MP:0020497 absent splanchnic nerve absence of the splanchnic nerve MP:0020498 heterochrony of entire embryo a change in the timing or rate of events that alters the size or shape of the entire embryo MP:0020499 persistent right umbilical vein failure of the right umbilical vein to regress MP:0020500 persistent trigeminal artery failure of the trigeminal artery, the artery that supplies the basilar artery with blood during development, to regress MP:0020501 thin mandibular nerve a slender apperance of the mandibular nerve MP:0020502 abnormal physiological umbilical hernia morphology any structural anomaly in the developmental umbilical hernia that occurs when the elongating intestine herniates into the base of the umbilical cord, this normally resolves when the size of the abdomen increases MP:0020503 abnormal sympathetic trunk morphology any structural anomaly of the two long ganglionated nerve strands that run lateral to the vertebral column and extend from the base of the skull to the coccyx; MP:0020504 abnormal cervical sympathetic trunk morphology any structural anomaly of the portion of the sympathetic trunk located in front of the front of the transverse processes of cervical vertebrae and neck of the 1st rib behind the carotid sheaths and in front of prevertebral fascia MP:0020505 absent cervical sympathetic trunk absence of the cervical section of the sympathetic trunk MP:0020506 abnormal dendritic spine density any anomaly in the number of dendritic spines in a given cross-sectional area of a dendrite MP:0020507 increased dendritic spine density increase in the number of dendritic spines in a given cross-sectional area of a dendrite MP:0020508 decreased dendritic spine density decrease in the number of dendritic spines in a given cross-sectional area of a dendrite MP:0020509 abnormal dendritic spine length any anomaly in the distance from the base to head of a dendritic spine MP:0020510 increased dendritic spine length increase in the distance from the base to head of a dendritic spine MP:0020511 decreased dendritic spine length decrease in the distance from the base to head of a dendritic spine MP:0020512 abnormal dendritic mushroom spine morphology any structural anomaly of the dendritic spines that have a thin neck and large bulbous head MP:0020513 abnormal dendritic stubby spine morphology any structural anomaly of the dendritic spines that have a bulbous head but lack a thin neck; these are typically prominent in postnatal development MP:0020514 abnormal dendritic thin spine morphology any structural anomaly of the dendritic spines that have a long, thin neck and a small bulbous head MP:0020515 abnormal visceral yolk sac endoderm morphology any structural anomaly of the portion of the visceral yolk sac consisting of endoderm-derived cells that is responsible for absorption of nutrients MP:0020516 abnormal visceral yolk sac mesenchyme morphology any structural anomaly of the portion of the visceral yolk sac that is derived from mesoderm and consists of mesenchyme MP:0020517 abnormal visceral yolk sac physiology any functional anomaly of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo; the yolk that it contains is the site of embryonic hematopoiesis and vitelline circulation is involved in early embryonic circulation; it is the origin of the primordial germ cells MP:0020518 renal glomerular protein deposits any anomalous accumulation of protein in the renal glomerulus MP:0020519 renal glomerular immunoglobulin deposits any anomalous accumulation of immunoglobulins in the renal glomerulus MP:0020520 whitened brown adipose tissue morphology brown adipose tissue displays a morphology more closely resembling white adipose tissue (eg. unilocular lipid droplets, decreased lipid droplet numbers) MP:0020521 browned white adipose tissue morphology white adipose tissue displays a morphology more closely resembling brown adipose tissue (eg. multilocular droplets, decreased lipid droplet size) including the emergence or brown or beige adipocytes in white adipose tissue; this may represent adaptation to increased thermogenic demand, exercise, injury (thermal injury), and/or disease (cancer) MP:0020522 decreased susceptibility to xenobiotic induced hyperthermia reduction in the expected increase in body temperature following xenobiotic treatment to induced hyperthermia (eg. isopropanol) MP:0020523 decreased susceptibility to induced hypothermia smaller than expected drop in body temperature in response to treatment (cold-exposure, dietary restriction, ethanol treatment, etc..) designed to induce hypothermia MP:0020524 abnormal behavioral response to methylenedioxymethamphetamine anomaly in the behavioral response induced by methylenedioxymethamphetamine such as induced hyperactivity or stereotypic behavior MP:0020525 abnormal thalamus size anomaly in the average size of the large ovoid mass of paired bodies containing mostly grey matter and forming part of the lateral wall of the third ventricle of the brain MP:0020526 enlarged thalamus increased size of the thalamus MP:0020527 small thalamus decreased size of the thalamus MP:0020528 thalamus hypoplasia decrease in the number of normal cells in normal arrangement in the thalamus, typically resulting in decreased size MP:0020529 ectopic thalamus abnormal position of the thalamus MP:0020530 disorganized thalamus derangement of the pattern of thalamic tissues MP:0020531 increased cerebellar foliation the cerebellar lobules are increased in size or number MP:0020532 abnormal pons size a deviation from the normal size of the pons MP:0020533 decreased pons size decreased size of or number of the nerve fibers in the pons MP:0020534 increased pons size increased size of or number of the nerve fibers in the pons MP:0020535 abnormal subiculum size a deviation from the normal size of the subiculum MP:0020536 increased subiculum size increase in the size of the subiculum MP:0020537 decreased subiculum size decreased size of the subiculum MP:0020538 abnormal cerebellum fastigial nucleus size a deviation from the normal size of the cerebellum fastigial nucleus MP:0020539 increased cerebellum fastigial nucleus size increased size of the cerebellum fastigial nucleus MP:0020540 decreased cerebellum fastigial nucleus size decreased size of the cerebellum fastigial nucleus MP:0020541 abnormal substantia nigra size a deviation from the normal size of the substantia nigra MP:0020542 increased substantia nigra size increased size of the substantia nigra MP:0020543 decreased substantia nigra size decreased size of the substantia nigra MP:0020544 abnormal hippocampal fornix size a deviation from the normal size of the hippocampal fornix MP:0020545 decreased hippocampal fornix size decreased size of the hippocampal fornix MP:0020546 increased hippocampal fornix size increased size of the hippocampal fornix MP:0020547 abnormal optic chiasm size a deviation from the normal size of the optic chiasm MP:0020548 decreased optic chiasm size decreased size of the optic chiasm MP:0020549 increased optic chiasm size increased size of the optic chiasm MP:0020550 multinucleated giant male germ cells presence of large cells containing multiple nuclei formed abnormal opening of the cytoplasmic bridges that are part of normal germ cell division MP:0020551 abnormal postsynaptic density morphology any structural anomaly of the electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse MP:0020552 abnormal stria medullaris morphology any structural anomaly of a bundle of afferent fibers that form a ridge over the thalamus and project from the telensephalon to the habenular nucleus MP:0020553 abnormal stria medullaris size a deviation from the normal size of the stria medullaris MP:0020554 decreased stria medullaris size decrease in the size of the stria medullaris MP:0020555 increased stria medullaris size increase in the size of the stria medullaris MP:0020556 abnormal ventromedial hypothalamic nucleus morphology any structural anomaly of a circumscript ovoid group of small neurons in the medial zone of the tuberal region of the hypothalamus delineated by a narrow, cell-sparse zone; this region regulates feeding, fear, thermoregulation and sexual activity MP:0020557 abnormal ventromedial hypothalamic nucleus size a deviation from the normal size of the ventromedial hypothalamic nucleus MP:0020558 decreased ventromedial hypothalamic nucleus size decrease in the size of the ventromedial hypothalamic nucleus MP:0020559 increased ventromedial hypothalamic nucleus size increase in the size of the ventromedial hypothalamic nucleus MP:0020560 abnormal pontine nuclei morphology any structural anomaly of nuclei in the basal pons, intermingled among the descending axons from the cortex, that receive neocortcial input and give rise to many axons that cross the midline to enter the contralateral cerebellum MP:0020561 abnormal pontine nuclei size a deviation from the normal size of the pontine nuclei MP:0020562 decreased pontine nuclei size a decrease in the size of the pontine nuclei MP:0020563 increased pontine nuclei size an increase in the size of the pontine nuclei MP:0020564 abnormal pontocerebellar fibers morphology any structural anomaly of the fiber pathway in the metencephalon that project from the pons to the contralateral cerebellum MP:0020565 abnormal pontocerebellar fibers size a deviation from the normal size of the pontocerebellar fibers MP:0020566 decreased pontocerebellar fibers size decrease in the size of the pontocerebellar fibers MP:0020567 increased pontocerebellar fibers size increase in the size of the pontocerebellar fibers MP:0020568 abnormal premotor cortex morphology any structural anomaly of the part of the motor cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord; the premotor cortex influences movements of the face, neck and trunk, and upper and lower extremities MP:0020569 abnormal premotor cortex size any deviation from the normal size of the premotor cortex MP:0020570 decreased premotor cortex size decrease in the size of the premotor cortex MP:0020571 increased premotor cortex size increase in the size of the premotor cortex MP:0020572 abnormal corpus callosum cell number any anomaly of the number of cells (mainly oligodendrocytes) of the corpus callosum MP:0020573 abnormal corpus callosum size deviation from the average range of corpus callosum size compared to normal MP:0020574 abnormal corpus callosum cell density any anomaly of the density of cells (mainly oligodendrocytes) of the corpus callosum MP:0020575 increased corpus callosum cell number increase in the number of cells (mainly oligodendrocytes) of the corpus callosum MP:0020576 decreased corpus callosum cell number decrease in the number of cells (mainly oligodendrocytes) of the corpus callosum MP:0020577 abnormal pancreatic alpha cell number anomaly in the number of the cells of the pancreas that secrete glucagon MP:0020578 abnormal pancreatic beta cell number anomaly in the number of the cells of the pancreas that secrete insulin MP:0020579 abnormal pancreatic delta cell number any anomaly in the number of the cells of the pancreas that secrete somatostatin MP:0020580 abnormal pancreatic epsilon cell number any anomaly in the number of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin MP:0020581 abnormal neuron polarity any anomaly in the normal orientation or arrangement of the axon(s) and dendrite(s) in relation to the neuronal cell body MP:0020582 increased ceramide level increased concentrations of ceramide MP:0020583 decreased ceramide level decreased concentrations of ceramide MP:0020584 decreased corpus callosum cell density decrease in the density of cells (mainly oligodendrocytes) of the corpus callosum MP:0020585 increased corpus callosum cell density increase in the density of cells (mainly oligodendrocytes) of the corpus callosum MP:0020586 abnormal corpus callosum total cell area any anomaly in the measurement of all areas of cells contained in the corpus callosum MP:0020587 abnormal corpus callosum average cell area any anomaly in the measurement of all areas of cells contained in the corpus callosum divided by the total number of cells present in the corpus callosum MP:0020588 increased corpus callosum average cell area increase in the average of the total cell area contained in the corpus callosum MP:0020589 decreased corpus callosum average cell area decrease in the average of the total cell area contained in the corpus callosum MP:0020590 decreased corpus callosum total cell area decrease in the total area of all cells in the corpus callosum MP:0020591 increased corpus callosum total cell area increase in the total area of all cells in the corpus callosum MP:0020592 abnormal cerebral cortex cell number any anomaly of the number of cells of the cerebral cortex MP:0020593 increased cerebral cortex cell number increase in the number of cells of the cerebral cortex MP:0020594 decreased cerebral cortex cell number decrease in the number of cells of the cerebral cortex MP:0020595 abnormal cerebral cortex total cell area any anomaly in the measurement of all areas of cells contained in the cerebral cortex MP:0020596 decreased cerebral cortex total cell area decrease in the total area of all cells contained in the cerebral cortex MP:0020597 increased cerebral cortex total cell area increase in the total area of all cells contained in the cerebral cortex MP:0020598 abnormal cerebral cortex cell density any anomaly of the density of cells of the cerebral cortex MP:0020599 increased cerebral cortex cell density increase of the density of cells of the cerebral cortex MP:0020600 decreased cerebral cortex cell density decrease of the density of cells of the cerebral cortex MP:0020601 abnormal cerebral cortex average cell area any anomaly in the measurement of all areas of cells contained in the cerebral cortex divided by the total number of cells present in the cerebral cortex MP:0020602 decreased cerebral cortex average cell area decrease in the average of the total cell area contained in the cerebral cortex MP:0020603 increased cerebral cortex average cell area increase in the average of the total cell area contained in the cerebral cortex MP:0020604 abnormal thalamus cell number any anomaly of the number of cells of the thalamus MP:0020605 increased thalamus cell number increase in the number of cells in the thalamus MP:0020606 decreased thalamus cell number decrease in the number of cells of the thalamus MP:0020607 abnormal thalamus total cell area any anomaly in the measurement of all areas of cells contained in the thalamus MP:0020608 decreased thalamus total cell area decrease in the total area of all cells contained in the thalamus MP:0020609 increased thalamus total cell area increase in the total area of all cells contained in the thalamus MP:0020610 abnormal thalamus cell density any anomaly of the density of cells of the thalamus MP:0020611 increased thalamus cell density increase of the density of cells of the thalamus MP:0020612 decreased thalamus cell density decrease of the density of cells of the thalamus MP:0020613 abnormal thalamus average cell area any anomaly in the measurement of all areas of cells contained in the thalamus divided by the total number of cells present in the thalamus MP:0020614 decreased thalamus average cell area decrease in the average of the total cell area contained in the thalamus MP:0020615 increased thalamus average cell area increase in the average of the total cell area contained in the thalamus MP:0020616 abnormal dorsal striatum cell number any anomaly of the number of cells of the dorsal striatum MP:0020617 decreased dorsal striatum cell number decrease in the number of cells of the dorsal striatum MP:0020618 increased dorsal striatum cell number increase in the number of cells of the dorsal striatum MP:0020619 abnormal dorsal striatum total cell area any anomaly in the measurement of all areas of cells contained in the dorsal striatum MP:0020620 increased dorsal striatum total cell area increase in the total area of all cells contained in dorsal striatum MP:0020621 decreased dorsal striatum total cell area decrease in the total area of all cells contained in dorsal striatum MP:0020622 abnormal dorsal striatum cell density any anomaly of the density of cells of the dorsal striatum MP:0020623 increased dorsal striatum cell density increase of the density of cells of the dorsal striatum MP:0020624 decreased dorsal striatum cell density decrease of the density of cells of the dorsal striatum MP:0020625 abnormal dorsal striatum average cell area any anomaly in the measurement of all areas of cells contained in the dorsal striatum divided by the total number of cells present in the dorsal striatum MP:0020626 decreased dorsal striatum average cell area decrease in the average of the total cell area contained in the dorsal striatum MP:0020627 increased dorsal striatum average cell area increase in the average of the total cell area contained in the dorsal striatum MP:0020628 abnormal hippocampus cell number any anomaly of the number of cells of the hippocampus MP:0020629 decreased hippocampus cell number decrease in the number of cells of the hippocampus MP:0020630 increased hippocampus cell number increase in the number of cells of the hippocampus MP:0020631 abnormal hippocampus total cell area any anomaly in the measurement of all areas of cells contained in the hippocampus MP:0020632 decreased hippocampus total cell area decrease in the total area of all cells contained in the hippocampus MP:0020633 increased hippocampus total cell area increase in the total area of all cells contained in the hippocampus MP:0020634 abnormal hippocampus cell density any anomaly of the density of cells of the hippocampus MP:0020635 decreased hippocampus cell density decrease of the density of cells of the hippocampus MP:0020636 increased hippocampus cell density increase of the density of cells of the hippocampus MP:0020637 abnormal hippocampus average cell area any anomaly in the measurement of all areas of cells contained in the hippocampus divided by the total number of cells present in the hippocampus MP:0020638 decreased hippocampus average cell area decrease in the average of the total cell area contained in the hippocampus MP:0020639 increased hippocampus average cell area increase in the average of the total cell area contained in the hippocampus MP:0020640 abnormal hippocampal fimbria cell number any anomaly of the number of cells of the hippocampal fimbria MP:0020641 decreased hippocampal fimbria cell number decrease in the number of cells of the hippocampal fimbria MP:0020642 increased hippocampal fimbria cell number increase in the number of cells of the hippocampal fimbria MP:0020643 abnormal hippocampal fimbria total cell area any anomaly in the measurement of all areas of cells contained in the hippocampal fimbria MP:0020644 decreased hippocampal fimbria total cell area decrease in the total area of all cells contained in the hippocampal fimbria MP:0020645 increased hippocampal fimbria total cell area increase in the total area of all cells contained in the hippocampal fimbria MP:0020646 abnormal hippocampal fimbria cell density any anomaly of the density of cells of the hippocampal fimbria MP:0020647 decreased hippocampal fimbria cell density decrease of the density of cells of the hippocampal fimbria MP:0020648 increased hippocampal fimbria cell density increase of the density of cells of the hippocampal fimbria MP:0020649 abnormal hippocampal fimbria average cell area any anomaly in the measurement of all areas of cells contained in the hippocampal fimbria divided by the total number of cells present in the hippocampal fimbria MP:0020650 decreased hippocampal fimbria average cell area decrease in the average of the total cell area contained in the hippocampal fimbria MP:0020651 increased hippocampal fimbria average cell area increase in the average of the total cell area contained in the hippocampal fimbria MP:0020652 abnormal anterior commissure cell number any anomaly of the number of cells of the anterior commissure MP:0020653 decreased anterior commissure cell number decrease in the number of cells of the anterior commissure MP:0020654 increased anterior commissure cell number increase in the number of cells of the anterior commissure MP:0020655 abnormal anterior commissure total cell area any anomaly in the measurement of all areas of cells contained in the anterior commissure MP:0020656 decreased anterior commissure total cell area decrease in the total area of all cells contained in the anterior commissure MP:0020657 increased anterior commissure total cell area increase in the total area of all cells contained in the anterior commissure MP:0020658 abnormal anterior commissure cell density any anomaly of the density of cells of the anterior commissure MP:0020659 decreased anterior commissure cell density decrease of the density of cells of the anterior commissure MP:0020660 increased anterior commissure cell density increase of the density of cells of the anterior commissure MP:0020661 abnormal anterior commissure average cell area any anomaly in the measurement of all areas of cells contained in the anterior commissure divided by the total number of cells present in the anterior commissure MP:0020662 decreased anterior commissure average cell area decrease in the average of the total cell area contained in the anterior commissure MP:0020663 increased anterior commissure average cell area increase in the average of the total cell area contained in the anterior commissure MP:0020664 abnormal stria medullaris cell number any anomaly of the number of cells of the stria medullaris MP:0020665 decreased stria medullaris cell number decrease in the number of cells of the stria medullaris MP:0020666 increased stria medullaris cell number increase in the number of cells of the stria medullaris MP:0020667 abnormal stria medullaris total cell area any anomaly in the measurement of all areas of cells contained in the stria medullaris MP:0020668 decreased stria medullaris total cell area decrease in the total area of all cells contained in the stria medullaris MP:0020669 increased stria medullaris total cell area increase in the total area of all cells contained in the stria medullaris MP:0020670 abnormal stria medullaris cell density any anomaly of the density of cells of the stria medullaris MP:0020671 decreased stria medullaris cell density decrease of the density of cells of the stria medullaris MP:0020672 increased stria medullaris cell density increase of the density of cells of the stria medullaris MP:0020673 abnormal stria medullaris average cell area any anomaly in the measurement of all areas of cells contained in the stria medullaris divided by the total number of cells present in the stria medullaris MP:0020674 decreased stria medullaris average cell area decrease in the average of the total cell area contained in the stria medullaris MP:0020675 increased stria medullaris average cell area increase in the average of the total cell area contained in the stria medullaris MP:0020676 abnormal hippocampal fornix cell number any anomaly of the number of cells of the hippocampal fornix MP:0020677 decreased hippocampal fornix cell number decrease in the number of cells of the hippocampal fornix MP:0020678 increased hippocampal fornix cell number increase in the number of cells of the hippocampal fornix MP:0020679 abnormal hippocampal fornix total cell area any anomaly in the measurement of all areas of cells contained in the hippocampal fornix MP:0020680 decreased hippocampal fornix total cell area decrease in the total area of all cells contained in the hippocampal fornix MP:0020681 increased hippocampal fornix total cell area increase in the total area of all cells contained in the hippocampal fornix MP:0020682 abnormal hippocampal fornix cell density any anomaly of the density of cells of the hippocampal fornix MP:0020683 decreased hippocampal fornix cell density decrease of the density of cells of the hippocampal fornix MP:0020684 increased hippocampal fornix cell density increase of the density of cells of the hippocampal fornix MP:0020685 abnormal hippocampal fornix average cell area any anomaly in the measurement of all areas of cells contained in the hippocampal fornix divided by the total number of cells present in the hippocampal fornix MP:0020686 decreased hippocampal fornix average cell area decrease in the average of the total cell area contained in the hippocampal fornix MP:0020687 increased hippocampal fornix average cell area increase in the average of the total cell area contained in the hippocampal fornix MP:0020688 abnormal optic chiasm cell number any anomaly of the number of cells of the optic chiasm MP:0020689 decreased optic chiasm cell number decrease in the number of cells of the optic chiasm MP:0020690 increased optic chiasm cell number increase in the number of cells of the optic chiasm MP:0020691 abnormal optic chiasm total cell area any anomaly in the measurement of all areas of cells contained in the optic chiasm MP:0020692 decreased optic chiasm total cell area decrease in the total area of all cells contained in the optic chiasm MP:0020693 increased optic chiasm total cell area increase in the total area of all cells contained in the optic chiasm MP:0020694 abnormal optic chiasm cell density any anomaly of the density of cells of the optic chiasm MP:0020695 decreased optic chiasm cell density decrease of the density of cells of the optic chiasm MP:0020696 increased optic chiasm cell density increase of the density of cells of the optic chiasm MP:0020697 abnormal optic chiasm average cell area any anomaly in the measurement of all areas of cells contained in the optic chiasm divided by the total number of cells present in the optic chiasm MP:0020698 decreased optic chiasm average cell area decrease in the average of the total cell area contained in the optic chiasm MP:0020699 increased optic chiasm average cell area increase in the average of the total cell area contained in the optic chiasm MP:0020700 abnormal ventromedial hypothalamic nucleus cell number any anomaly of the number of cells of the ventromedial hypothalamic nucleus MP:0020701 decreased ventromedial hypothalamic nucleus cell number decrease in the number of cells of the ventromedial hypothalamic nucleus MP:0020702 increased ventromedial hypothalamic nucleus cell number increase in the number of cells of the ventromedial hypothalamic nucleus MP:0020703 abnormal ventromedial hypothalamic nucleus total cell area any anomaly in the measurement of all areas of cells contained in the ventromedial hypothalamic nucleus MP:0020704 decreased ventromedial hypothalamic nucleus total cell area decrease in the total area of all cells contained in the ventromedial hypothalamic nucleus MP:0020705 increased ventromedial hypothalamic nucleus total cell area increase in the total area of all cells contained in the ventromedial hypothalamic nucleus MP:0020706 abnormal ventromedial hypothalamic nucleus cell density any anomaly of the density of cells of the ventromedial hypothalamic nucleus MP:0020707 decreased ventromedial hypothalamic nucleus cell density decrease of the density of cells of the ventromedial hypothalamic nucleus MP:0020708 increased ventromedial hypothalamic nucleus cell density increase of the density of cells of the ventromedial hypothalamic nucleus MP:0020709 abnormal ventromedial hypothalamic nucleus average cell area any anomaly in the measurement of all areas of cells contained in the ventromedial hypothalamic nucleus divided by the total number of cells present in the ventromedial hypothalamic nucleus MP:0020710 decreased ventromedial hypothalamic nucleus average cell area decrease in the average of the total cell area contained in the ventromedial hypothalamic nucleus MP:0020711 increased ventromedial hypothalamic nucleus average cell area increase in the average of the total cell area contained in the ventromedial hypothalamic nucleus MP:0020712 abnormal pontine nuclei cell number any anomaly of the number of cells of the pontine nuclei MP:0020713 decreased pontine nuclei cell number decrease in the number of cells of the pontine nuclei MP:0020714 increased pontine nuclei cell number increase in the number of cells of the pontine nuclei MP:0020715 abnormal pontine nuclei total cell area any anomaly in the measurement of all areas of cells contained in the pontine nuclei MP:0020716 decreased pontine nuclei total cell area decrease in the total area of all cells contained in the pontine nuclei MP:0020717 increased pontine nuclei total cell area increase in the total area of all cells contained in the pontine nuclei MP:0020718 abnormal pontine nuclei cell density any anomaly of the density of cells of the pontine nuclei MP:0020719 decreased pontine nuclei cell density decrease of the density of cells of the pontine nuclei MP:0020720 increased pontine nuclei cell density increase of the density of cells of the pontine nuclei MP:0020721 abnormal pontine nuclei average cell area any anomaly in the measurement of all areas of cells contained in the pontine nuclei divided by the total number of cells present in the pontine nuclei MP:0020722 decreased pontine nuclei average cell area decrease in the average of the total cell area contained in the pontine nuclei MP:0020723 increased pontine nuclei average cell area increase in the average of the total cell area contained in the pontine nuclei MP:0020724 thick retina inner nuclear layer increased thickness of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells MP:0020725 abnormal substantia nigra cell number any anomaly of the number of cells of the substantia nigra MP:0020726 decreased substantia nigra cell number decrease of the number of cells of the substantia nigra MP:0020727 increased substantia nigra cell number increase of the number of cells of the substantia nigra MP:0020728 abnormal substantia nigra total cell area any anomaly in the measurement of all areas of cells contained in the substantia nigra MP:0020729 decreased substantia nigra total cell area decrease in the total area of all cells contained in the substantia nigra MP:0020730 increased substantia nigra total cell area increase in the total area of all cells contained in the substantia nigra MP:0020731 abnormal substantia nigra cell density any anomaly of the density of cells of the substantia nigra MP:0020732 decreased substantia nigra cell density decrease of the density of cells of the substantia nigra MP:0020733 increased substantia nigra cell density increase of the density of cells of the substantia nigra MP:0020734 abnormal substantia nigra average cell area any anomaly in the measurement of all areas of cells contained in the substantia nigra divided by the total number of cells present in the substantia nigra MP:0020735 decreased substantia nigra average cell area decrease in the measurement of all areas of cells contained in the substantia nigra divided by the total number of cells present in the substantia nigra MP:0020736 increased substantia nigra average cell area increase in the measurement of all areas of cells contained in the substantia nigra divided by the total number of cells present in the substantia nigra MP:0020737 abnormal pontocerebellar fibers cell number any anomaly of the number of cells of the pontocerebellar fibers MP:0020738 decreased pontocerebellar fibers cell number decrease of the number of cells of the pontocerebellar fibers MP:0020739 increased pontocerebellar fibers cell number increase of the number of cells of the pontocerebellar fibers MP:0020740 abnormal pontocerebellar fibers total cell area any anomaly of the total area of cells of the pontocerebellar fibers MP:0020741 decreased pontocerebellar fibers total cell area decrease of the total area of cells of the pontocerebellar fibers MP:0020742 increased pontocerebellar fibers total cell area increase of the total area of cells of the pontocerebellar fibers MP:0020743 abnormal pontocerebellar fibers cell density any anomaly of the density of cells of the pontocerebellar fibers MP:0020744 decreased pontocerebellar fibers cell density decrease of the density of cells of the pontocerebellar fibers MP:0020745 increased pontocerebellar fibers cell density increase of the density of cells of the pontocerebellar fibers MP:0020746 abnormal pontocerebellar fibers average cell area any anomaly in the measurement of all areas of cells contained in the pontocerebellar fibers divided by the total number of cells present in the pontocerebellar fibers MP:0020747 decreased pontocerebellar fibers average cell area decrease in the measurement of all areas of cells contained in the pontocerebellar fibers divided by the total number of cells present in the pontocerebellar fibers MP:0020748 increased pontocerebellar fibers average cell area increase in the measurement of all areas of cells contained in the pontocerebellar fibers divided by the total number of cells present in the pontocerebellar fibers MP:0020749 abnormal cingulate cortex morphology any structural anomaly of the thick belt of cortex encircling the corpus callosum that responsible for producing emotional responses to physical sensations of pain and for cognitive control MP:0020750 abnormal cingulate cortex cell number any anomaly of the number of cells of the cingulate cortex MP:0020751 decreased cingulate cortex cell number a decrease of the number of cells of the cingulate cortex MP:0020752 increased cingulate cortex cell number an increase of the number of cells of the cingulate cortex MP:0020753 abnormal cingulate cortex total cell area any anomaly in the measurement of all areas of cells contained in the cingulate cortex MP:0020754 decreased cingulate cortex total cell area decrease in the measurement of all areas of cells contained in the cingulate cortex MP:0020755 increased cingulate cortex total cell area increase in the measurement of all areas of cells contained in the cingulate cortex MP:0020756 abnormal cingulate cortex cell density any anomaly of the density of cells of the cingulate cortex MP:0020757 decreased cingulate cortex cell density decrease of the density of cells of the cingulate cortex MP:0020758 increased cingulate cortex cell density increase of the density of cells of the cingulate cortex MP:0020759 abnormal cingulate cortex average cell area any anomaly in the measurement of all areas of cells contained in the cingulate cortex divided by the total number of cells present in cingulate cortex MP:0020760 decreased cingulate cortex average cell area decrease in the measurement of all areas of cells contained in the cingulate cortex divided by the total number of cells present in cingulate cortex MP:0020761 increased cingulate cortex average cell area increase in the measurement of all areas of cells contained in the cingulate cortex divided by the total number of cells present in cingulate cortex MP:0020762 abnormal dorsal subiculum morphology the dorsal division of the subiculum; thought to play a role in the processing of spatial, mnemonic and movement information MP:0020763 abnormal dorsal subiculum cell number any anomaly of the number of cells of the dorsal subiculum MP:0020764 decreased dorsal subiculum cell number decrease in the number of cells of the dorsal subiculum MP:0020765 increased dorsal subiculum cell number increase in the number of cells of the dorsal subiculum MP:0020766 abnormal dorsal subiculum total cell area any anomaly in the measurement of all areas of cells contained in the dorsal subiculum MP:0020767 decreased dorsal subiculum total cell area decrease in the total area of all cells contained in the dorsal subiculum MP:0020768 increased dorsal subiculum total cell area increase in the total area of all cells contained in the dorsal subiculum MP:0020769 abnormal dorsal subiculum cell density any anomaly of the density of cells of the dorsal subiculum MP:0020770 decreased dorsal subiculum cell density decrease of the density of cells of the dorsal subiculum MP:0020771 increased dorsal subiculum cell density increase of the density of cells of the dorsal subiculum MP:0020772 abnormal dorsal subiculum average cell area any anomaly in the measurement of all areas of cells contained in the dorsal subiculum divided by the total number of cells present in the dorsal subiculum MP:0020773 decreased dorsal subiculum average cell area decrease in the average of the total cell area contained in the dorsal subiculum MP:0020774 increased dorsal subiculum average cell area increase in the average of the total cell area contained in the dorsal subiculum MP:0020775 abnormal inferior colliculus cell number any anomaly of the number of cells of the inferior colliculus MP:0020776 decreased inferior colliculus cell number decrease in the number of cells of the inferior colliculus MP:0020777 increased inferior colliculus cell number increase in the number of cells of the inferior colliculus MP:0020778 abnormal inferior colliculus total cell area any anomaly in the measurement of all areas of cells contained in the inferior colliculus MP:0020779 decreased inferior colliculus total cell area decrease in the total area of all cells contained in the inferior colliculus MP:0020780 increased inferior colliculus total cell area increase in the total area of all cells contained in the inferior colliculus MP:0020781 abnormal inferior colliculus cell density any anomaly of the density of cells of the inferior colliculus MP:0020782 decreased inferior colliculus cell density decrease of the density of cells of the inferior colliculus MP:0020783 increased inferior colliculus cell density increase of the density of cells of the inferior colliculus MP:0020784 abnormal inferior colliculus average cell area any anomaly in the measurement of all areas of cells contained in the inferior colliculus divided by the total number of cells present in the inferior colliculus MP:0020785 decreased inferior colliculus average cell area decrease in the average of the total cell area contained in the inferior colliculus MP:0020786 increased inferior colliculus average cell area increase in the average of the total cell area contained in the inferior colliculus MP:0020787 abnormal superior colliculus cell number any anomaly of the number of cells of the superior colliculus MP:0020788 decreased superior colliculus cell number decrease in the number of cells of the superior colliculus MP:0020789 increased superior colliculus cell number increase in the number of cells of the superior colliculus MP:0020790 abnormal superior colliculus total cell area any anomaly in the measurement of all areas of cells contained in the superior colliculus MP:0020791 decreased superior colliculus total cell area decrease in the total area of all cells contained in the superior colliculus MP:0020792 increased superior colliculus total cell area increase in the total area of all cells contained in the superior colliculus MP:0020793 abnormal superior colliculus cell density any anomaly of the density of cells of the superior colliculus MP:0020794 decreased superior colliculus cell density decrease of the density of cells of the superior colliculus MP:0020795 increased superior colliculus cell density increase of the density of cells of the superior colliculus MP:0020796 abnormal superior colliculus average cell area any anomaly in the measurement of all areas of cells contained in the superior colliculus divided by the total number of cells present in the superior colliculus MP:0020797 decreased superior colliculus average cell area decrease in the average of the total cell area contained in the superior colliculus MP:0020798 increased superior colliculus average cell area increase in the average of the total cell area contained in the superior colliculus MP:0020799 abnormal cerebellum fastigial nucleus cell number any anomaly of the number of cells of the cerebellum fastigial nucleus MP:0020800 increased cerebellum fastigial nucleus cell number increase in the number of cells of the cerebellum fastigial nucleus MP:0020801 decreased cerebellum fastigial nucleus cell number decrease in the number of cells of the cerebellum fastigial nucleus MP:0020802 abnormal cerebellum fastigial nucleus total cell area any anomaly in the measurement of all areas of cells contained in the cerebellum fastigial nucleus MP:0020803 increased cerebellum fastigial nucleus total cell area increase in the total area of all cells contained in the cerebellum fastigial nucleus MP:0020804 decreased cerebellum fastigial nucleus total cell area decrease in the total area of all cells contained in the cerebellum fastigial nucleus MP:0020805 abnormal cerebellum fastigial nucleus cell density any anomaly of the density of cells of the cerebellum fastigial nucleus MP:0020806 increased cerebellum fastigial nucleus cell density increase of the density of cells of the cerebellum fastigial nucleus MP:0020807 decreased cerebellum fastigial nucleus cell density decrease of the density of cells of the cerebellum fastigial nucleus MP:0020808 abnormal cerebellum fastigial nucleus average cell area any anomaly in the measurement of all areas of cells contained in the cerebellum fastigial nucleus divided by the total number of cells present in the cerebellum fastigial nucleus MP:0020809 increased cerebellum fastigial nucleus average cell area increase in the average of the total cell area contained in the cerebellum fastigial nucleus MP:0020810 decreased cerebellum fastigial nucleus average cell area decrease in the average of the total cell area contained in the cerebellum fastigial nucleus MP:0020811 abnormal photoreceptor outer segment size deviation from the average range of photoreceptor outer segment size for an organism MP:0020812 long photoreceptor outer segment increased length of the photoreceptor region that is rich in the visual pigment rhodopsin MP:0020813 abnormal photoreceptor outer segment disc membrane morphology any structural anomaly of the membranous stack located inside the photoreceptor outer segment, and containing densely packed molecules of the photoreceptor protein rhodopsin that traverse the lipid bilayer MP:0020814 abnormal photoreceptor outer segment diameter any anomaly in the width of the cross-sectional distance that extends from one lateral edge of the photoreceptor outer segment through its center and to the opposite lateral edge MP:0020815 abnormal photoreceptor outer segment number deviation from the normal number of the photoreceptor outer segments MP:0020816 decreased photoreceptor outer segment number decreased number of photoreceptor outer segments MP:0020817 increased photoreceptor outer segment number increased number of photoreceptor outer segments MP:0020818 abnormal anterior cerebral artery topology abnormal position of the anterior cerebral artery in relation to other structures MP:0020819 abnormal common carotid artery topology abnormal position of the common carotid artery in relation to other structures MP:0020820 absent segment of superior cerebellar artery absence of a portion of the superior cerebellar artery MP:0020821 abnormal oculomotor nerve topology abnormal position of the oculomotor nerve in relation to other structures MP:0020822 absent masticatory muscles absence of all the muscles responsible for the movement of the jaws during mastication, including the masseter, temporal, and medial and lateral pterygoid muscles MP:0020823 absent pubic symphysis absence of the firm fibrocartilaginous joint in the median plane between the two opposing surfaces of the pubic bones MP:0020824 abnormal testis tissue architecture any anomaly in the texture of the testicular tissue MP:0020825 ectopic spleen a spleen located outside of its normal position MP:0020826 increased oculomotor nerve neuroma incidence greater than the expected incidence of a tumor derived from cells of the oculomotor nerve MP:0020827 single Mullerian duct presence of only one Mullerian duct instead of the usual 2 ducts MP:0020828 abnormal axon course any anomaly in the path taken by a process from the nerve cell body to a target MP:0020829 abnormal forebrain tissue architecture any anomaly in the texture of the forebrain tissue MP:0020830 abnormal jugular lymph sac morphology any structural anomaly in an embryonic lymph sac that forms at the junction of the future internal jugular/anterior cardinals and subclavian veins MP:0020831 decreased jugular lymph sac number fewer than the expected number of jugular lymph sacs; typically there are two of these MP:0020832 absent jugular lymph sacs absence of both of the jugular lymph sacs MP:0020833 increased jugular lymph sac number greater than the expected number of jugular lymph sacs; typically there are two of these MP:0020834 abnormal citrulline metabolism any anomaly in the chemical reactions and pathways involving citrulline, including metabolic, catabolic and biosynthetic processes MP:0020835 abnormal circulating citrulline level aberrant concentration in the blood of citrulline, N5-carbamoyl-L-ornithine, an alpha amino acid not found in proteins MP:0020836 increased circulating citrulline level increase in the amount per unit of blood of citrulline MP:0020837 decreased circulating citrulline level reduction in the amount per unit of blood of citrulline MP:0020838 increased acute myeloid leukemia incidence higher than normal incidence of cancer characterized by rapid onset of abnormal leukocyte proliferation, manifesting as a severe bleeding disorder from coagulation abnormalities, and bone marrow infiltration of abnormal myelocytes MP:0020839 increased acute undifferentiated leukemia incidence higher than normal incidence of cancer characterized by rapid onset of abnormal leukocyte proliferation where the leukocytes are too immature to be able to be classified; manifesting as a severe bleeding disorder from coagulation abnormalities, and bone marrow infiltration of abnormal myelocytes MP:0020840 abnormal type I cell of carotid body morphology any structural anomaly of the round or oval neuroepithelial cells in the carotid body that contact other type I cells or capillaries and are capable of secreting a number of neurotransmitters MP:0020841 abnormal supporting cell of carotid body morphology any structural anomaly of the supporting cells of the carotid body that have characteristics of glial cells and with processes that envelope the junctions between glomus cells and nerve endings MP:0020842 abnormal supporting cell of carotid body physiology any functional anomaly of the supporting cells of the carotid body that have characteristics of glial cells and with processes that envelope the junctions between glomus cells and nerve endings MP:0020843 abnormal type I cell of carotid body physiology any functional anomaly of the round or oval neuroepithelial cells in the carotid body that contact other type I cells or capillaries and are capable of secreting a number of neurotransmitters MP:0020844 abnormal pulmonary respiratory rate response any anomaly in the change in the number of breaths per minute induced by a stimulus MP:0020845 abnormal DNA-templated transcription any anomaly in the cellular synthesis of RNA on a template of DNA MP:0020846 abnormal cell motility any anomaly in a process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another MP:0020847 abnormal peroxisome physiology any functional anomaly of the small organelle enclosed by a single membrane that contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism MP:0020848 abnormal exocytosis any anomaly in the process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle MP:0020849 abnormal actin cytoskeleton morphology any anomaly in the structure of the part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins MP:0020850 abnormal microtubule cytoskeleton morphology any structural anomaly of the part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins MP:0020851 abnormal vacuole morphology any structural anomaly in the closed structures, found only in eukaryotic cells, that are completely surrounded by unit membrane and contain liquid material MP:0020852 abnormal olfactory behavior any anomaly in the actions, reactions, or performance of an organism in response to an odor MP:0020853 abnormal cornea epithelium thickness anomaly in the width or number of cell layers of the smooth stratified squamous epithelium that covers the outer surface of the cornea MP:0020854 increased cornea epithelium thickness increase in the width or number of cell layers of the smooth stratified squamous epithelium that covers the outer surface of the cornea MP:0020855 decreased cornea epithelium thickness decrease in the width or number of cell layers of the smooth stratified squamous epithelium that covers the outer surface of the cornea MP:0020856 absent cornea epithelium absence of the smooth stratified squamous epithelium that covers the outer surface of the cornea MP:0020857 cornea epithelium hyperplasia increase in the number of normal cells in normal arrangement in the corneal epithelium, typically resulting in increased size MP:0020858 cornea epithelium hypoplasia decrease in the number of normal cells in normal arrangement in the corneal epithelium, typically resulting in decreased size MP:0020859 disorganized cornea epithelium derangement of the pattern of the smooth stratified squamous epithelium that covers the outer surface of the cornea MP:0020860 abnormal cornea physiology any functional anomaly of the transparent anterior portion of the fibrous coat of the eye that covers the iris, pupil, and anterior chamber; together with the lens, the cornea refracts light MP:0020861 abnormal cornea wound healing aberrant process of repair of trauma to the cornea, especially that caused by physical means MP:0020862 increased cornea fragility increase in the susceptibility of the cornea to damage or rupture MP:0020863 abnormal suckling reflex any anomaly in the ability to orient and open/close mouth in sucking pattern in response to external light touching or stroking of the chin MP:0020864 premature suckling reflex loss cessation of the suckling reflex occurs earlier in development compared to controls MP:0020865 delayed suckling reflex loss cessation of the suckling reflex occurs later in development compared to controls MP:0020866 abnormal lipogenesis any anomaly in the chemical reactions and pathways resulting in the formation of lipids MP:0020867 increased lipogenesis any anomaly in the chemical reactions and pathways resulting in the formation of lipids that results in increased formation of lipids MP:0020868 decreased lipogenesis any anomaly in the chemical reactions and pathways resulting in the formation of lipids that results in decreased formation of lipids MP:0020869 immotile sperm complete absence of sperm motility MP:0020870 decreased thigmotaxis less than average preference for staying at the perimeter walls of an open area or in an enclosed versus exposed area; may be used as an indicator of increased anxiety response MP:0020871 abnormal locomotor response to cocaine any anomaly in locomotor activity following an acute or repeated exposure to the psychostimulant cocaine MP:0020872 abnormal hypothalamic nucleus morphology any structural anomaly of one or more of the nuclei of the brain that are part of the hypothalamus MP:0020873 abnormal arcuate nucleus of hypothalamus morphology any structural anomaly of the aggregation of neurons in the mediobasal hypothalamus, adjacent to the third ventricle and the median eminence MP:0020874 abnormal nervous system dopamine level aberrant concentration of dopamine in the one or more tissues or fluids of the nervous system MP:0020875 decreased nervous system dopamine level reduced concentration of dopamine in the one or more tissues or fluids of the nervous system MP:0020876 increased nervous system dopamine level elevated concentration of dopamine in the one or more tissues or fluids of the nervous system MP:0020877 decreased circulating dopamine level less than the normal blood amount of dopamine MP:0020878 abnormal milk mineral level any anomaly in the concentration of one or more minerals in the milk MP:0020879 abnormal calcium level any anomaly in the concentration of calcium in the body or bodily fluids MP:0020880 abnormal milk calcium level any anomaly in the concentration in the milk of calcium MP:0020881 abnormal milk copper level any anomaly in the concentration of copper in the milk MP:0020882 abnormal milk iron level any anomaly in the concentration of iron in the milk MP:0020883 abnormal magnesium level any anomaly in the concentration of magnesium in the body MP:0020884 abnormal milk magnesium level any anomaly in the concentration of magnesium in milk MP:0020885 abnormal phosphate level any anomaly in the concentration of phosphate (salt or ester of phosphoric acid) in the body MP:0020886 abnormal milk phosphate level any anomaly in the milk concentrations of the salt or ester of phosphoric acid MP:0020887 abnormal potassium level any anomaly in the concentration of potassium in the body MP:0020888 abnormal milk potassium level any anomaly in the concentration of potassium in milk MP:0020889 abnormal sodium level any anomaly in the concentration of sodium in the body MP:0020890 abnormal milk sodium level any anomaly in the concentration of sodium in milk MP:0020891 abnormal sulfate level any anomaly in the concentration of sulfate (sulfur) in the body MP:0020892 abnormal milk sulfate level any anomaly in the concentration of sulfate (sulfur) in milk MP:0020893 abnormal zinc level any anomaly in the concentration of zinc in the body MP:0020894 abnormal milk zinc level any anomaly in the concentration of zinc in milk MP:0020895 abnormal acute locomotor response to cocaine any anomaly in the expected locomotor response to a single exposure to cocaine in a drug-naive animal MP:0020896 abnormal locomotor sensitization to cocaine any anomaly in the expected increase in locomotor activation to cocaine upon repeated exposures MP:0020897 abnormal initiation of locomotor sensitization to cocaine any anomaly in the expected increase in locomotor activation after second exposure to cocaine MP:0020898 abnormal expression of locomotor sensitization to cocaine any anomaly in the maintenance of locomotor sensitization to cocaine after a period of no exposure MP:0020899 abnormal cocaine conditioned locomotor activation any anomaly in the locomotor response to a cocaine-paired environment in the absence of the cocaine MP:0020900 abnormal middle ear epithelium morphology any structural anomaly of the epithelial layer of the middle ear MP:0020901 abnormal middle ear goblet cell morphology any structural anomaly of the mucin secreting cells located in the middle ear epithelium MP:0020902 abnormal middle ear goblet cell number any anomaly in the number of goblet cells in the middle ear epithelium MP:0020903 increased middle ear goblet cell number greater than the expected number of goblet cells in the middle ear epithelium MP:0020904 decreased middle ear goblet cell number fewer than the expected number of goblet cells in the middle ear epithelium MP:0020905 abnormal cocaine self-administration any anomaly in the volitional intake of cocaine MP:0020906 abnormal acquisiton of operant behavior for a cocaine reinforcer any anomaly in the expression of a behavior associated with obtaining cocaine MP:0020907 abnormal extinction of cocaine self-administration any anomaly in the reduction of cocaine seeking behavior in the absence of cocaine following acquisition of a learned response for cocaine MP:0020908 abnormal reinstatement of an extinguished operant behavior for a cocaine reinforcer any anomaly in the restoration of extinguished cocaine seeking behavior MP:0020909 abnormal cue-induced reinstatement of an extinguished operant behavior for a cocaine reinforcer any anomaly in the restoration of extinguished cocaine seeking behavior in response to cocaine associated cues MP:0020910 abnormal stress-induced reinstatement of an extinguished operant behavior for a cocaine reinforcer any anomaly in the restoration of extinguished cocaine seeking behavior in response to stress associated cues MP:0020911 abnormal drug-induced reinstatement of an extinguished operant behavior for a drug reinforcer any anomaly in the restoration of extinguished cocaine seeking behavior in response to a drug MP:0020912 abnormal susceptibility to Riboviria infection any anomaly in the likelihood that an organism will develop ill effects from infection with an RNA virus or viroid or from components of or toxins produced by a an RNA virus or viroid MP:0020913 increased susceptibility to Riboviria infection increase in the likelihood that an organism will develop ill effects from infection with an RNA virus or viroid or from components of or toxins produced by a an RNA virus or viroid MP:0020914 decreased susceptibility to Riboviria infection decrease in the likelihood that an organism will develop ill effects from infection with an RNA virus or viroid or from components of or toxins produced by a an RNA virus or viroid MP:0020915 abnormal susceptibility to Herpesvirales infection any anomaly in the likelihood that an organism will develop ill effects from infection with a linear, double-stranded DNA virus contained within a T=16 icosahedral capsid surrounded by a proteinaceous matrix (tegument) and then by a lipid envelope containing membrane-associated proteins or from components of or toxins produced by a virus from this Order MP:0020916 increased susceptibility to Herpesvirales infection increase in the likelihood that an organism will develop ill effects from infection with a Herpesvirales virus or from components of or toxins produced by a Herpesvirales virus MP:0020917 decreased susceptibility to Herpesvirales infection decrease in the likelihood that an organism will develop ill effects from infection with a Herpesvirales virus or from components of or toxins produced by a Herpesvirales virus MP:0020918 abnormal susceptibility to Ortervirales infection any anomaly in the likelihood that an organism will develop ill effects from infection with a reverse-transcribing virus (defined by expression of a viral reverse transcriptases) or from components of or toxins produced by a virus from this Order MP:0020919 increased susceptibility to Ortervirales infection increase in the likelihood that an organism will develop ill effects from infection with an Ortervirales virus or from components of or toxins produced by a virus from this Order MP:0020920 decreased susceptibility to Ortervirales infection decrease in the likelihood that an organism will develop ill effects from infection with an Ortervirales virus or from components of or toxins produced by a virus from this Order MP:0020921 abnormal susceptibility to Parvoviridae infection any anomaly in the likelihood that an organism will develop ill effects from infection with a non-enveloped, T=1 icosahedral capsid, linear, single-stranded DNA virus or from components of or toxins produced by a virus from this Family MP:0020922 increased susceptibility to Parvoviridae infection increase in the likelihood that an organism will develop ill effects from infection with a Parvoviridae virus or from components of or toxins produced by a virus from this Family MP:0020923 decreased susceptibility to Parvoviridae infection decrease in the likelihood that an organism will develop ill effects from infection with a Parvoviridae virus or from components of or toxins produced by a virus from this Family MP:0020924 abnormal susceptibility to Hepadnaviridae infection any anomaly in the likelihood that an organism will develop ill effects from infection with a reverse-transcribing virs with a spherical, occasionally pleomorphic shape, a 42-50 nm diameter, and no evident surface projections after negative staining virus or from components of or toxins produced by a virus from this Family MP:0020925 increased susceptibility to Hepadnaviridae infection increase in the likelihood that an organism will develop ill effects from infection with a Hepadnaviridae virus or from components of or toxins produced by a Hepadnaviridae virus MP:0020926 decreased susceptibility to Hepadnaviridae infection decrease in the likelihood that an organism will develop ill effects from infection with a Hepadnaviridae virus or from components of or toxins produced by a Hepadnaviridae virus MP:0020927 abnormal susceptibility to Poxviridae infection any anomaly in the likelihood that an organism will develop ill effects from infection with a single strand DNA virus that replicate entirely in the cytoplasm or from components of or toxins produced by a virus from this Family MP:0020928 increased susceptibility to Poxviridae infection increase in the likelihood that an organism will develop ill effects from infection with a Poxviridae virus or from components of or toxins produced by a Poxviridae virus MP:0020929 decreased susceptibility to Poxviridae infection decrease in the likelihood that an organism will develop ill effects from infection with a Poxviridae virus or from components of or toxins produced by a Poxviridae virus MP:0020930 abnormal susceptibility to Adenoviridae infection any anomaly in the likelihood that an organism will develop ill effects from infection with a nonenveloped double stranded DNA virus of 70-90 nm in diameter, with an icosahedral capsid consisting of 240 nonvertex capsomers and 12 vertex capsomers virus or from components of or toxins produced by a virus from this Family MP:0020931 increased susceptibility to Adenoviridae infection increase in the likelihood that an organism will develop ill effects from infection with an Adenoviridae virus or from components of or toxins produced by a Adenoviridae virus MP:0020932 decreased susceptibility to Adenoviridae infection decrease in the likelihood that an organism will develop ill effects from infection with an Adenoviridae virus or from components of or toxins produced by a Adenoviridae virus MP:0020933 abnormal susceptibility to Retroviridae infection any anomaly in the likelihood that an organism will develop ill effects from infection with an enveloped (about 100 nm in diameter), icosahedral reverse-transcribing virus that possess an RNA of about 7-10 kb or from components of or toxins produced by a virus from this Family MP:0020934 increased susceptibility to Retroviridae infection increase in the likelihood that an organism will develop ill effects from infection with a Retroviridae virus or from components of or toxins produced by a Retroviridae virus MP:0020935 decreased susceptibility to Retroviridae infection decrease in the likelihood that an organism will develop ill effects from infection with a Retroviridae virus or from components of or toxins produced by a Retroviridae virus MP:0020936 abnormal susceptibility to Picornaviridae infection any anomaly in the likelihood that an organism will develop ill effects from infection with one of the small, icosahedral viruses with a single-stranded, highly diverse positive-sense, non-segemented RNA genomes or from components of or toxins produced by a virus from this Family MP:0020937 increased susceptibility to Picornaviridae infection increase in the likelihood that an organism will develop ill effects from infection with a Picornaviridae virus or from components of or toxins produced by a Picornaviridae virus MP:0020938 decreased susceptibility to Picornaviridae infection decrease in the likelihood that an organism will develop ill effects from infection with a Picornaviridae virus or from components of or toxins produced by a Picornaviridae virus MP:0020939 abnormal susceptibility to Togaviridae infection any anomaly in the likelihood that an organism will develop ill effects from infection with one of the small, enveloped viruses with single-stranded, positive-sense, non-segmented RNA genomes of 10-12 kb or from components of or toxins produced by a virus from this Family MP:0020940 increased susceptibility to Togaviridae infection increase in the likelihood that an organism will develop ill effects from infection with a Togaviridae virus or from components of or toxins produced by a Togaviridae virus MP:0020941 decreased susceptibility to Togaviridae infection decrease in the likelihood that an organism will develop ill effects from infection with a Togaviridae virus or from components of or toxins produced by a Togaviridae virus MP:0020942 abnormal susceptibility to Flaviviridae infection any anomaly in the likelihood that an organism will develop ill effects from infection with one of the small enveloped viruses with positive-sense, non-segmented RNA genomes of approximately 9.0-13 kb or from components of or toxins produced by a virus from this Family MP:0020943 increased susceptibility to Flaviviridae infection increase in the likelihood that an organism will develop ill effects from infection with a Flaviviridae virus or from components of or toxins produced by a Flaviviridae virus MP:0020944 decreased susceptibility to Flaviviridae infection decrease in the likelihood that an organism will develop ill effects from infection with a Flaviviridae virus or from components of or toxins produced by a Flaviviridae virus MP:0020945 abnormal susceptibility to Orthomyxoviridae infection any anomaly in the likelihood that an organism will develop ill effects from infection with one of the viruses whose genomes are composed of several (six to eight) segments of single-stranded RNA or from components of or toxins produced by a virus from this Family MP:0020946 increased susceptibility to Orthomyxoviridae infection increase in the likelihood that an organism will develop ill effects from infection with a Orthomyxoviridae virus or from components of or toxins produced by a Orthomyxoviridae virus MP:0020947 decreased susceptibility to Orthomyxoviridae infection decrease in the likelihood that an organism will develop ill effects from infection with a Orthomyxoviridae virus or from components of or toxins produced by a Orthomyxoviridae virus MP:0020948 abnormal susceptibility to Coronaviridae infection any anomaly in the likelihood that an organism will develop ill effects from infection with one of the enveloped positive-sense single-stranded RNA viruses with a genome of up to 32kb in length or from components of or toxins produced by a virus from this Family MP:0020949 increased susceptibility to Coronaviridae infection increase in the likelihood that an organism will develop ill effects from infection with a Coronaviridae virus or from components of or toxins produced by a Coronaviridae virus MP:0020950 decreased susceptibility to Coronaviridae infection decrease in the likelihood that an organism will develop ill effects from infection with a Coronaviridae virus or from components of or toxins produced by a Coronaviridae virus MP:0020951 abnormal susceptibility to Paramyxoviridae infection any anomaly in the likelihood that an organism will develop ill effects from infection with one of the large enveloped, negative-sense, single-stranded RNA viruses or from components of or toxins produced by a virus from this Family MP:0020952 increased susceptibility to Paramyxoviridae infection increase in the likelihood that an organism will develop ill effects from infection with a Paramyxoviridae virus or from components of or toxins produced by a Paramyxoviridae virus MP:0020953 decreased susceptibility to Paramyxoviridae infection decrease in the likelihood that an organism will develop ill effects from infection with a Paramyxoviridae virus or from components of or toxins produced by a Paramyxoviridae virus MP:0020954 decreased mechanical nociceptive threshold a lower than average point at which mechanical pain sensation is first detectable MP:0020955 increased mechanical nociceptive threshold a higher than average point at which mechanical pain sensation is first detectable MP:0020956 absent mechanical nociception inability to sense mechanical pain MP:0020957 abnormal meiotic drive any anomaly in the process that results in the unequal transmission of alleles, haplotypes, or chromosomes from a parental genome to gametes MP:0020958 abnormal c-wave implicit time anomaly in the time from the onset of light stimulus to the peak of the c-wave MP:0020959 decreased c-wave implicit time decrease in the time from the onset of light stimulus to the peak of the c-wave MP:0020960 increased c-wave implicit time increase in the time from the onset of light stimulus to the peak of the c-wave MP:0020961 abnormal c-wave amplitude anomaly in the size (height or maximum displacement) of the c-wave as measured in the electroretinogram MP:0020962 increased c-wave amplitude increase in the size (height or maximum displacement) of the c-wave as measured in the electroretinogram MP:0020963 decreased c-wave amplitude reduction in the size (height or maximum displacement) of the c-wave as measured in the electroretinogram MP:0020964 abnormal platelet dense granule secretion any anomaly in the regulated release of any of the contents of platelet dense granules, such as cations (Ca2+, Mg2+, K+), polyphosphates, nucleotides (ADP, ATP, GTP) or bioactive amines (serotonin and histamine) MP:0020965 increased platelet dense granule secretion increase in the regulated release of any of the contents of platelet dense granules, such as cations (Ca2+, Mg2+, K+), polyphosphates, nucleotides (ADP, ATP, GTP) or bioactive amines (serotonin and histamine) MP:0020966 decreased platelet dense granule secretion decrease in the regulated release of any of the contents of platelet dense granules, such as cations (Ca2+, Mg2+, K+), polyphosphates, nucleotides (ADP, ATP, GTP) or bioactive amines (serotonin and histamine) MP:0020967 absent platelet dense granule secretion absence of the regulated release of any of the contents of platelet dense granules, such as cations (Ca2+, Mg2+, K+), polyphosphates, nucleotides (ADP, ATP, GTP) or bioactive amines (serotonin and histamine) MP:0020968 enhanced conditioned taste aversion behavior increase in the ability of an animal to learn to avoid food sources that were previously associated with aversive internal stimuli or sickness such as a drug that induces sickness MP:0020969 impaired conditioned taste aversion behavior decrease in the ability of an animal to learn to avoid food sources that were previously associated with aversive internal stimuli or sickness such as a drug that induces sickness MP:0020970 abnormal neurotransmitter turnover any anomaly in the process by which neurotransmitters are renewed, frequently measured as a ratio of metabolite(s) of the neurotransmitter to the neurotransmitter itself MP:0020971 increased neurotransmitter turnover increase in the process by which neurotransmitters are renewed, frequently measured as a ratio of metabolite(s) of the neurotransmitter to the neurotransmitter itself MP:0020972 decreased neurotransmitter turnover reduction in the process by which neurotransmitters are renewed, frequently measured as a ratio of metabolite(s) of the neurotransmitter to the neurotransmitter itself MP:0020973 abnormal gland development any anomaly in the process whose specific outcome is the progression of a gland over time, from its formation to the mature structure MP:0020974 abnormal FO-wave shape any anomaly in the graphical representation of the FO-wave in the electroretinogram; the ERG FO-wave can be used to assess the functional integrity of the photoreceptors, the pigment epithelial cells and the interactions between them MP:0020975 abnormal FO-wave amplitude anomaly in the size (height or maximum displacement) of the FO-wave as measured in the electroretinogram MP:0020976 increased FO-wave amplitude increase in the size (height or maximum displacement) of the FO-wave as measured in the electroretinogram MP:0020977 decreased FO-wave amplitude decrease in the size (height or maximum displacement) of the FO-wave as measured in the electroretinogram MP:0020978 abnormal FO-wave implicit time anomaly in the time from the onset of light stimulus to the peak of the FO-wave MP:0020979 decreased FO-wave implicit time decrease in the time from the onset of light stimulus to the peak of the FO-wave MP:0020980 increased FO-wave implicit time increase in the time from the onset of light stimulus to the peak of the FO-wave MP:0020981 abnormal immune system development any anomaly in the process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure MP:0020982 abnormal skin adnexa development any anomaly in the process whose specific outcome is the progression of the tissues or structures associated with or embedded in the skin over time, from formation to the mature structure MP:0020983 abnormal circulating factor XI level any anomaly in the concentration in the blood of factor XI, also known as plasma thromboplastin antecedent, one of the serine proteases of the coagulation cascade MP:0020984 decreased circulating factor XI level decrease in the concentration in the blood of factor XI, also known as plasma thromboplastin antecedent, one of the serine proteases of the coagulation cascade MP:0020985 increased circulating factor XI level increase in the concentration in the blood of factor XI, also known as plasma thromboplastin antecedent, one of the serine proteases of the coagulation cascade MP:0020986 abnormal circulating ceruloplasmin level any anomaly in the concentration in the blood of ceruloplasmin, a ferroxidase enzyme that contains copper atoms in its structure and is the major carrier of copper in the blood MP:0020987 abnormal urine lipocalin 2 level any anomaly in the amount in the urine of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores MP:0020988 decreased urine lipocalin 2 level reduction in the amount in the urine of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores MP:0020989 increased urine lipocalin 2 level increase in the amount in the urine of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores MP:0020990 abnormal urine HAVCR1 level any anomaly in the amount in the urine of HAVCR1, a membrane receptor for both human hepatitis A virus (HHAV) and Timd4 that is frequently upregulated in response to kidney injury MP:0020991 decreased urine HAVCR1 level reduction in the amount in the urine of HAVCR1, a membrane receptor for both human hepatitis A virus (HHAV) and Timd4 that is frequently upregulated in response to kidney injury MP:0020992 increased urine HAVCR1 level increase in the amount in the urine of HAVCR1, a membrane receptor for both human hepatitis A virus (HHAV) and Timd4 that is frequently upregulated in response to kidney injury MP:0020993 abnormal urine cytokine level any anomaly in the amount in the urine of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells MP:0020994 abnormal urine osteopontin level any anomaly in the amount in the urine of osteopontin, a proinflammatory cytokine that upregulates expression of interferon-gamma and interleukin-12 and is a key factor in tissue repair after injury MP:0020995 decreased urine osteopontin level reduction in the amount in the urine of osteopontin, a proinflammatory cytokine that upregulates expression of interferon-gamma and interleukin-12 and is a key factor in tissue repair after injury MP:0020996 increased urine osteopontin level increase in the amount in the urine of osteopontin, a proinflammatory cytokine that upregulates expression of interferon-gamma and interleukin-12 and is a key factor in tissue repair after injury MP:0020997 abnormal subcutaneous adipose tissue amount anomaly in the quantity of adipose tissue beneath the skin MP:0020998 abnormal epididymal fat pad weight any anomaly in the weight of the encapsulated adipose tissue associated with the epididymis MP:0020999 abnormal small intestine length any anomaly in the length of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum MP:0021000 abnormal cecum weight any anomaly in the weight of the large sac at the ileum and large intestine junction MP:0021001 impaired neuron physiology any anomaly resulting in reduced function of a neuron MP:0021002 brain lesion focal pathological changes characterized by alteration in the size, shape and organization of the cellular components of the brain tissue MP:0021003 cerebral infarct a necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors MP:0021004 cerebral microinfarct an infarct found in the cerebrum that can only be observed microscopically MP:0021005 cerebral cortex microinfarct an infarct located on the outer layer of the cerebrum that can only be observed microscopically MP:0021006 hippocampal microinfarct an infarct located in the hippocampus that can only be observed microscopically MP:0021007 amygdala microinfarct an infarct located in the amygdala that can only be observed microscopically MP:0021008 temporal lobe atrophy acquired diminution of the size of the lower lateral part of the cerebral hemisphere MP:0021009 abnormal synaptic physiology any functional anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means MP:0021010 impaired synaptic physiology any functional impairment of a synapse MP:0021011 parietal cortex atrophy acquired diminution of the size of the upper central part of the cerebral hemisphere associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0021012 decreased acetylcholine level less than the normal amount of acetylcholine MP:0021013 abnormal synaptic vesicle endocytosis any anomaly in the vesicle-mediated transport process in which neuronal cells form a new membrane-bounded vesicle by the invagination of a small region of the synaptic plasma membrane MP:0021014 abnormal tau protein phosphorylation any anomaly in the process by which a phosphate group is introduced to the tau protein MP:0021015 increased tau protein phosphorylation increase in the process by which a phosphate group is introduced to the tau protein MP:0021016 decreased tau protein phosphorylation decrease in the process by which a phosphate group is introduced to the tau protein MP:0021017 abnormal dendritic spine number any anomaly in the number of spines on a dendrite MP:0021018 decreased dendritic spine number fewer than the expected number of spines on a given dendrite MP:0021019 increased dendritic spine number greater than the expected number of spines on a given dendrite MP:0021020 neurite dystrophy degenerated neurite(s) that may be the end result of genetic abnormalities or inadequate or faulty metabolism MP:0021021 abnormal adipose tissue noradrenaline turnover any anomaly in the process by which noradrenaline is broken down and renewed in the adipose tissue MP:0021022 decreased adipose tissue noradrenaline turnover any reduction in the process by which noradrenaline is broken down and renewed in the adipose tissue MP:0021023 increased adipose tissue noradrenaline turnover any increase in the process by which noradrenaline is broken down and renewed in the adipose tissue MP:0021024 abnormal cerebrospinal fluid physiology any functional anomaly of the fluid that the occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord and/or its suspended elements MP:0021025 increased cerebrospinal fluid amyloid beta 40 isoform level increase in the amount of amyloid beta 40 found in cerebrospinal fluid MP:0021026 decreased cerebrospinal fluid amyloid beta 40 isoform level reduction in the amount of amyloid beta 40 found in cerebrospinal fluid MP:0021027 abnormal cerebrospinal fluid amyloid beta 40 isoform level any anomaly in the amount of amyloid beta 40 found in cerebrospinal fluid MP:0021028 abnormal tumor necrosis factor (ligand) superfamily member 11 level anomaly in the amount of TNF superfamily member 11 protein MP:0021029 increased tumor necrosis factor (ligand) superfamily member 11 level increase in the amount of TNF superfamily member 11 protein MP:0021030 decreased tumor necrosis factor (ligand) superfamily member 11 level decrease in the amount of TNF superfamily member 11 protein MP:0021031 abnormal tumor necrosis factor receptor superfamily member 11b level anomaly in the amount of tumor necrosis factor receptor superfamily member 11b protein MP:0021032 increased tumor necrosis factor receptor superfamily member 11b level increase in the amount of tumor necrosis factor receptor superfamily member 11b protein MP:0021033 decreased tumor necrosis factor receptor superfamily member 11b level decrease in the amount of tumor necrosis factor receptor superfamily member 11b protein MP:0021034 abnormal circulating cartilage oligomeric matrix protein level any anomaly in the amount of cartilage oligomeric matrix protein, often used as a marker for cartilage turnover, in the blood, plasma, or serum MP:0021035 decreased circulating cartilage oligomeric matrix protein level decrease in the amount of cartilage oligomeric matrix protein in the blood, plasma, or serum MP:0021036 increased circulating cartilage oligomeric matrix protein level increase in the amount of cartilage oligomeric matrix protein in the blood, plasma, or serum MP:0021037 abnormal circulating orosomucoid 1 protein level any anomaly in the amount of the acute phase protein orosomucoid 1 in the blood, serum, or plasma MP:0021038 increased circulating orosomucoid 1 protein level increase in the amount of the acute phase protein orosomucoid 1 in the blood, serum, or plasma MP:0021039 decreased circulating orosomucoid 1 protein level decrease in the amount of the acute phase protein orosomucoid 1 in the blood, serum, or plasma MP:0021040 abnormal circulating LDL phospholipid level any anomaly in the amount of the complex of low density lipoproteins, small (18-25 nm) and low density (1.019-1.063 g/ml) particles, and phospholipids in the blood, plasma, or serum MP:0021041 abnormal circulating VLDL phospholipid level any anomaly in the amount of the complex of very low density lipoproteins, large (30-80 nm) and very low density (0.93-1.006 g/ml) particles, and phospholipids in the blood, plasma, or serum MP:0021042 increased circulating LDL phospholipid level increase in the amount of the complex of low density lipoproteins and phospholipids in the blood, plasma, or serum MP:0021043 decreased circulating LDL phospholipid level decrease in the amount of the complex of low density lipoproteins and phospholipids in the blood, plasma, or serum MP:0021044 increased circulating VLDL phospholipid level increase in the amount of the complex of very low density lipoproteins and phospholipids in the blood, plasma, or serum MP:0021045 decreased circulating VLDL phospholipid level decrease in the amount of the complex of very low density lipoproteins and phospholipids in the blood, plasma, or serum MP:0021046 abnormal circulating HDL triglyceride level any anomaly in the amount of the complex of high density lipoproteins, small (4-13 nm) and dense (greater than 1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum MP:0021047 abnormal circulating LDL triglyceride level any anomaly in the amount of the complex of low density lipoproteins, small (18-25 nm) and low density (1.019-1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum MP:0021048 increased circulating LDL triglyceride level increase in the amount of the complex of low density lipoproteins, small (18-25 nm) and low density (1.019-1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum MP:0021049 decreased circulating LDL triglyceride level decrease in the amount of the complex of low density lipoproteins, small (18-25 nm) and low density (1.019-1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum MP:0021050 increased circulating HDL triglyceride level increase in the amount of the complex of high density lipoproteins, small (4-13 nm) and dense (greater than 1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum MP:0021051 decreased circulating HDL triglyceride level decrease in the amount of the complex of high density lipoproteins, small (4-13 nm) and dense (greater than 1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum MP:0021052 abnormal renal arterial blood pressure regulation any anomaly in the processes that modulate the force with which blood travels through the renal circulatory system MP:0021053 abnormal renal arterial blood pressure any anomaly in the tension of the blood within the renal arteries or arterioles MP:0021054 increased renal arterial blood pressure increase in the tension of the blood within the renal arteries or arterioles MP:0021055 decreased renal arterial blood pressure decrease in the tension of the blood within the renal arteries or arterioles MP:0021056 abnormal tumor vascular morphology any structural anomaly of the network of tubes that carries blood within and/or around tumors MP:0021057 abnormal tumor perivascular space morphology any anomaly in the structure of the extracellular space bounded by capillary endothelium on one side and parenchymal basement membrane on the other side in tumor blood vessels MP:0021058 increased tumor perivascular space size increase in the size of the perivascular space in tumors MP:0021059 decreased tumor perivascular space size decrease in the size of the perivascular space in tumors MP:0021060 abnormal tumor pericyte morphology any structural anomaly of the connective tissue cells that occur around capillaries or other small blood vessels within a tumor MP:0021061 abnormal tumor pericyte number any anomaly in the number of pericytes found in the perivascular area of a tumor MP:0021062 increased tumor pericyte number increase in the number of pericytes found in the perivascular area of a tumor MP:0021063 decreased tumor pericyte number decrease in the number of pericytes found in the perivascular area of a tumor MP:0021064 decreased tumor nonattached pericyte number decrease in the number of pericytes that have not formed attachments to tumor blood vessels MP:0021065 decreased tumor attached pericyte number decrease in the number of pericytes that have formed attachments to tumor blood vessels MP:0021066 increased tumor nonattached pericyte number increase in the number of pericytes that have not formed attachments to tumor blood vessels MP:0021067 increased tumor attached pericyte number increase in the number of pericytes that have formed attachments to tumor blood vessels MP:0021068 abnormal nitric oxide synthase level any anomaly in the concentration of the enzyme(s) that catalyzes the synthesis of nitric oxide from L-arginine MP:0021069 decreased nitric oxide synthase 1 level reduction in the concentration of the constitutive neuronal enzyme that catalyzes the synthesis of nitric oxide from L-arginine MP:0021070 increased nitric oxide synthase 1 level elevated concentration of the constitutive neuronal enzyme that catalyzes the synthesis of nitric oxide from L-arginine MP:0021071 decreased nitric oxide synthase 2 level reduction in the concentration of the inducible enzyme that catalyzes the synthesis of nitric oxide from L-arginine MP:0021072 increased nitric oxide synthase 2 level elevated concentration of the inducible enzyme that catalyzes the synthesis of nitric oxide from L-arginine MP:0021073 decreased nitric oxide synthase 3 level reduction in the concentration of the constitutive endothelial enzyme that catalyzes the synthesis of nitric oxide from L-arginine MP:0021074 increased nitric oxide synthase 3 level increase in the concentration of the constitutive endothelial enzyme that catalyzes the synthesis of nitric oxide from L-arginine MP:0021075 abnormal nitric oxide synthase 3 level any anomaly in the concentration of the constitutive endothelial enzyme that catalyzes the synthesis of nitric oxide from L-arginine MP:0021076 abnormal nitric oxide synthase 1 level any anomaly in the concentration of the constitutive neuronal enzyme that catalyzes the synthesis of nitric oxide from L-arginine MP:0021077 abnormal nitric oxide synthase 2 level any anomaly in the concentration of the inducible enzyme that catalyzes the synthesis of nitric oxide from L-arginine MP:0021078 abnormal nitric oxide synthase 2 to nitric oxide synthase 3 ratio any anomaly in the ratio of the concentrations of nitric oxide synthase 2 to nitric oxide synthase 3, two of the enzymes that catalyze the synthesis of nitric oxide from L-arginine MP:0021079 increased nitric oxide synthase 2 to nitric oxide synthase 3 ratio increase in the ratio of the concentrations of nitric oxide synthase 2 and nitric oxide synthase 3, two of the enzymes that catalyze the synthesis of nitric oxide from L-arginine MP:0021080 decreased nitric oxide synthase 2 to nitric oxide synthase 3 ratio decrease in the ratio of the concentrations of nitric oxide synthase 2 and nitric oxide synthase 3, two of the enzymes that catalyze the synthesis of nitric oxide from L-arginine MP:0021081 abnormal ribosomal stalling any anomaly in the ability of cells to clear a ribosomal complex that has become stuck in the process of translational elongation MP:0021082 abnormal cerebrospinal fluid amyloid beta 42 isoform level any anomaly in the amount of amyloid beta 42 found in cerebrospinal fluid MP:0021083 increased cerebrospinal fluid amyloid beta 42 isoform level increase in the amount of amyloid beta 42 found in cerebrospinal fluid MP:0021084 decreased cerebrospinal fluid amyloid beta 42 isoform level reduction in the amount of amyloid beta 42 found in cerebrospinal fluid MP:0021085 increased DNA replication any anomaly in the chemical reactions and pathways resulting an increase in new strands of DNA being synthesized MP:0021086 decreased DNA replication any anomaly in the chemical reactions and pathways resulting a decrease in new strands of DNA being synthesized MP:0021087 abnormal spatial memory extinction any anomaly in the process by which a previously acquired spatial memory is lost by learned suppression MP:0021088 impaired spatial memory extinction decrease in or deceleration of the process by which a previously acquired spatial memory is lost by learned suppression MP:0021089 enhanced spatial memory extinction increase in or acceleration of the process by which a previously acquired spatial memory is lost by learned suppression MP:0021090 abnormal dendrite arborization pattern any anomaly in the structure of the tree-like branching pattern of the dendritic arbor MP:0021091 abnormal dorsal interneuron morphology any structural anomaly spinal cord interneurons that arise from the dorsal pool of progenitor cells and are associated primarily with sensory processing MP:0021092 abnormal dorsal interneuron 1 morphology any structural anomaly of the dorsal interneurons that migrate to the deep dorsal horn and intermediate gray tissue, recieve proprioceptive input from the periphery, form commissural projections of dorsal and ventral spinaocerebellar tracts, and are characterized by expression of Atoh1, Brn3a, Barhl1, and Lhx9 MP:0021093 abnormal dorsal interneuron 2 morphology any structural anomaly of the dorsal interneurons that are ascending, contralaterally projecting, relay interneurons, migrate to the intermediate spinal cord and ventral horn, and are characterized by expression of Olig3, Nlgn1, Brn3a, Foxd3, Lhx1, and Lhx5 MP:0021094 abnormal dorsal interneuron 3 morphology any structural anomaly of the dorsal interneurons that are excitatory, located in the deep dorsal horn and intermediate spinal cord, target motor neurons monosynaptically, have axons projecting rostrally, ipsilaterally, and longitudinally, and are characterized by expression of Acsl1, Gsh2, Brn3a, Tlx3, Isl1, and Drg11 MP:0021095 abnormal dorsal interneuron 4 morphology any structural anomaly of the dorsal interneurons that are GABAergic, project ipsilaterally, are somatosensory associative, migrate to the deep dorsal horn, and are characterized by expression of Msx1, Ascl1, Gsh1, Gsh2, Lbx1, Pax2, Lhx1, Lhx5, and Ptf1a MP:0021096 abnormal dorsal interneuron 5 morphology any structural anomaly of the dorsal interneurons that are roof-plate independent, glutamatergic, somatosensory, project contralaterally, and are characterized by expression of Pax6, Irx3, Dbx2, Ascl1, Lbx1, Tlx3, Lmxb1b, and Brn3a MP:0021097 abnormal dorsal interneuron 6 morphology any structural anomaly of the dorsal interneurons that are roof-plate independent, commissural, inhibitory, and are characterized by expression of Pax6, Pax7, Irx3, Dbx2, Ngn1, Ngn2, Wt1, and Lbx1 MP:0021098 abnormal late-born dorsal interneuron morphology any structural anomaly of the dorsal interneurons that are born during a second wave of neurogenesis, are located in the superficial dorsal horn, and are characterized by expression of Ascl1, Gsh1, Gsh2, Ptf1, and Lbx1 MP:0021099 abnormal dorsal interneuron LA morphology any structural anomaly of the late-born dorsal interneurons that are roof-plate independent, and are dependent on expression of Ptf1a MP:0021100 abnormal dorsal interneuron LB morphology any structural anomaly of the late-born dorsal interneurons that project ipsilaterally, integrate input from cutaneous sensory neurons that detect noxious stimuli, and are characterized by expression of Drg11, Tlx3, and Slc17a6 MP:0021101 abnormal ventral interneuron morphology any structural anomaly spinal cord interneurons that arise from the ventral pool of progenitor cells, are mostly found in the ventral cord and are grossly associated with motor function MP:0021102 abnormal ventral interneuron 0 morphology any structural anomaly of the ventral interneurons that are primarily contralateral, receive inputs from ipsilateral projecting V2a interneurons, and are characterized by expression of Evx1, Dbx1, Dbx2, Pax6 and Irx3 MP:0021103 abnormal ventral interneuron 1 morphology any structural anomaly of the ventral interneurons that appear to control burst durations and are characterized by expression of En1, Foxd3, Dbx2, Pax6, and Irx3 MP:0021104 abnormal ventral interneuron 2 morphology any structural anomaly of the ventral interneurons that project ipsilaterally, extend axons caudally across several segments, have both excitatory (V2a) and inhibitory (V2b) subclasses, and are characterized by expression of Chx10, Gata3, Irx3, and Lhx3 MP:0021105 abnormal ventral interneuron 3 morphology any structural anomaly of the ventral interneurons that are glutamatergic, predominantly project contralaterally and caudally, form connections with V1, V2 and lamina VIII interneurons, and are characterized by expression of Nkx2-2, Nkx601, Ngn3, and Sim1 MP:0021106 abnormal secondary ovarian follicle morphology any structural anomaly in a maturing ovarian follicle that has two or more layers of granulosa cells but lacks antra MP:0021107 retina fold presence of one or more wrinkles projecting outward from the surface of the retina MP:0021108 intestinal epithelium hyperplasia increase in the number of normal cells in normal arrangement in the intestinal epithelium, typically resulting in increased size MP:0021109 intestinal epithelium hypoplasia decrease in the number of normal cells in normal arrangement in the intestinal epithelium, typically resulting in increased size MP:0021110 increased social investigation increase in the tendency for animals to approach and examine conspecifics MP:0021111 decreased social investigation decrease in the tendency for animals to approach and examine conspecifics MP:0021112 impaired social recognition reduction in the ability of an individual to recognize another individual of the same species during repeated encounters MP:0021113 enhanced social recognition increase in the ability of an individual to recognize another individual of the same species during repeated encounters MP:0021114 social amnesia inability of an individual to recognize another individual of the same species during repeated encounters MP:0021115 abnormal aggression towards conspecific any anomaly in the level of domineering, assaultive posture and/or hostile physical action displayed toward another individual(s) of the same species MP:0021116 abnormal heterospecific interaction behavior any anomaly in the normal behavior of a mammal(s) in response to encountering or engaging with a member(s) of another species MP:0021117 abnormal huddling behavior any anomaly in the tendency of a group of mammals to congregate together maintaining close body contact MP:0021118 abnormal paternal behavior any anomaly in any response from the father or attending male related to the ability of young to thrive MP:0021119 abnormal auditory behavior any anomaly in a behavior related to the actions or reactions of an organism in response to a sound MP:0021120 abnormal visual behavior any anomaly in a behavior related to the actions or reactions of an organism in response to a visual stimulus MP:0021121 abnormal rhythmic behavior any anomaly in any specific action or reaction of an organism that recurs with measured regularity MP:0021122 abnormal trimethylamine N-oxide level any anomaly in the amount of the tertiary amine oxide resulting from the oxidation typically by gut bacteria of the amino group of trimethylamine MP:0021123 increased trimethylamine N-oxide level elevation in the amount of the tertiary amine oxide resulting from the oxidation typically by gut bacteria of the amino group of trimethylamine MP:0021124 decreased trimethylamine N-oxide level reduction in the amount of the tertiary amine oxide resulting from the oxidation typically by gut bacteria of the amino group of trimethylamine MP:0021125 abnormal phosphocholine level any anomaly in the amount of the phosphate of choline an intermediate in the synthesis of phosphatidylcholine MP:0021126 increased phosphocholine level greater than the normal amount of the phosphate of choline an intermediate in the synthesis of phosphatidylcholine MP:0021127 decreased phosphocholine level less than the normal amount of the phosphate of choline an intermediate in the synthesis of phosphatidylcholine MP:0021128 increased choline level greater than the normal amount of choline (2-hydroxyethyltrimethylammonium), an amino alcohol that occurs widely in living organisms as a constituent of certain types of phospholipids and in the neurotransmitter acetylcholine MP:0021129 abnormal glycerophosphocholine level any anomaly in the amount of the glycerol phosphate ester of a phosphocholine, one of two major forms of choline storage (the other is phosphocholine) in the cytosol MP:0021130 decreased glycerophosphocholine level less than the normal amount of the glycerol phosphate ester of a phosphocholine, one of two major forms of choline storage (the other is phosphocholine) in the cytosol MP:0021131 increased glycerophosphocholine level greater than the normal amount of the glycerol phosphate ester of a phosphocholine, one of two major forms of choline storage (the other is phosphocholine) in the cytosol MP:0021132 abnormal amino acid betaine level any anomaly in the amount of the amino acid-derived zwitterion in which the ammonium nitrogen carries methyl substituents and bears no hydrogen atoms; often serving as methyl donor for various metabolic pathways MP:0021133 increased amino acid betaine level greater than the normal amount of the amino acid-derived zwitterion in which the ammonium nitrogen carries methyl substituents and bears no hydrogen atoms MP:0021134 decreased amino acid betaine level less than the normal amount of the amino acid-derived zwitterion in which the ammonium nitrogen carries methyl substituents and bears no hydrogen atoms MP:0021135 abnormal annulus fibrosus morphology any structural anomaly of the sturdy tire-like structure consisting of water and sturdy elastic collagen fibers that encases the gel-like center of the disk MP:0021136 abnormal vertebrae shape any anomaly in the characteristic surface outline or contour of the vertebrae MP:0021137 abnormal wedge-shaped vertebrae any anomaly in the angle between the upper endplate and the lower endplate of the vertebra such that one side is thicker than the other MP:0021138 abnormal multifidus muscle morphology any structural anomaly in the small, triangular muscular and tendinous bundles located on either side of the spinal column that fill the groove between the transverse and spinous processes of the vertebrae MP:0021139 abnormal cardiac muscle calcium level any anomaly in the amount of calcium in the heart muscle MP:0021140 increased cardiac muscle calcium level increase in the amount of calcium in the heart muscle MP:0021141 decreased cardiac muscle calcium level decrease in the amount of calcium in the heart muscle MP:0021142 abnormal brain N-acetyl-L-aspartic acid level any anomaly in the amount of the derivative of the amino acid aspartic acid in which the acyl group is acetyl and has the chemical formula C6H9NO5 in the brain tissue MP:0021143 increased brain N-acetyl-L-aspartic acid level an increase in the amount of N-acetyl-L-aspartic acid in the brain tissue MP:0021144 decreased brain N-acetyl-L-aspartic acid level a decrease in the amount of N-acetyl-L-aspartic acid in the brain tissue MP:0021145 abnormal amino acid derivative level any anomaly in the amount of a compound derived from an amino acid from reaction at an amino group, carboxy group, side-chain functional group, or from the replacement of any hydrogen by a heteroatom MP:0021146 AA amyloidosis an accumulation of extracellular serum amyloid A deposits in tissues of the body MP:0021147 renal amyloidosis an accumulation of extracellular amyloid deposits in tissues of the kidney MP:0021148 cardiac amyloidosis an accumulation of extracellular amyloid deposits in tissues of the heart MP:0021149 abnormal amyloid beta protein level any anomaly in the amount of the cleaved APP amyloid beta protein fragment MP:0021150 increased amyloid beta protein level increase in the amount of the cleaved APP amyloid beta protein fragment MP:0021151 decreased amyloid beta protein level decrease in the amount of the cleaved APP amyloid beta protein fragment MP:0021152 abnormal amyloid deposition any anomaly in the formation of extracellular amyloid deposits in tissues of the body MP:0021153 decreased amyloid deposition reduction in the formation of extracellular amyloid deposits in tissues of the body MP:0021154 hepatic amyloidosis an accumulation of extracellular amyloid deposits in tissues of the liver MP:0021155 abnormal heart left ventricle wall thickness anomaly in the depth of the cardiac wall of the heart left ventricle MP:0021156 abnormal heart right ventricle wall thickness anomaly in the depth of the cardiac wall of the heart right ventricle MP:0021157 increased heart left ventricle wall thickness increase in the depth of the cardiac wall of the heart left ventricle MP:0021158 decreased heart left ventricle wall thickness decrease in the depth of the cardiac wall of the heart left ventricle MP:0021159 increased heart right ventricle wall thickness increase in the depth of the cardiac wall of the heart right ventricle MP:0021160 decreased heart right ventricle wall thickness decrease in the depth of the cardiac wall of the heart right ventricle MP:0021161 increased heart left ventricle posterior wall thickness increase in the depth of the cardiac wall on the posterior side of the heart left ventricle MP:0021162 increased heart left ventricle anterior wall thickness increase in the depth of the cardiac wall on the anterior side of the heart left ventricle MP:0021163 increased heart left ventricle septal wall thickness increase in the depth of the cardiac septal wall of the heart left ventricle MP:0021164 oral cleft fissure in the tissues of the upper lip and/or roof of the mouth MP:0021165 behavioral developmental delay late onset of the appearance or disappearance of a behavior or behavioral milestone during the development of an organism compared to controls MP:0021166 delayed palatal shelf elevation delay in the timing of the process in which the palatal shelves move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue MP:0021167 abnormal behavioral response to oxycodone anomaly in the behavioral response induced by the semisynthetic opioid of formula C18H21NO4 that is derived from thebaine MP:0021168 enhanced behavioral response to oxycodone increased sensitivity to oxycodone resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response MP:0021169 impaired behavioral response to oxycodone decreased sensitivity to oxycodone resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response MP:0021170 spinal stenosis abnormal narrowing or constriction of the spaces within the vertebral column MP:0021171 abnormal granulocyte nuclear morphology any structural anomaly in the nucleus of granulocytes MP:0021172 abnormal neutrophil nuclear morphology any structural anomaly in the nucleus of neutrophils MP:0021173 abnormal neutrophil nuclear segmentation any anomaly in the number or structure of the lobes of the nucleus of neutrophils MP:0021174 decreased neutrophil nuclear segmentation reduced number of lobes of the neutrophil nucleus MP:0021175 symmetrical hyposegmentation of neutrophil nuclei reduced number of lobes of the neutrophil nucleus and the remaining lobes have a symmetrical morphology MP:0021176 asymmetrical hyposegmentation of neutrophil nuclei reduced number of lobes of the neutrophil nucleus and the remaining lobes have an asymmetrical morphology MP:0021177 increased neutrophil nuclear segmentation elevated number of lobes of the neutrophil nucleus MP:0021178 abnormal eosinophil nuclear morphology any structural anomaly in the nucleus of eosinophils MP:0021179 abnormal eosinophil nuclear segmentation any anomaly in the number or structure of the lobes of the nucleus of eosinophils MP:0021180 decreased eosinophil nuclear segmentation reduced number of lobes of the eosinophil nucleus MP:0021181 increased eosinophil nuclear segmentation elevated number of lobes of the eosinophil nucleus MP:0021182 decreased femoral compact bone area reduction in the total amount of cross-sectional area of compact bone tissue in the femur MP:0021183 increased femoral compact bone area increase in the total amount of cross-sectional area of compact bone tissue in the femur MP:0021184 decreased bone mineral density of humerus reduction in the quantitative measurement value of mineral content of bone in the upper bone of the forelimb MP:0021185 increased bone mineral density of humerus elevation in the quantitative measurement value of mineral content of bone in the upper bone of the forelimb MP:0021186 decreased bone mineral density of vertebrae reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the spinal column MP:0021187 increased bone mineral density of vertebrae elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the spinal column MP:0021188 decreased bone mineral density of presacral vertebrae reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located anterior to the sacrum MP:0021189 increased bone mineral density of presacral vertebrae elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located anterior to the sacrum MP:0021190 decreased bone mineral density of lumbar vertebrae reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae MP:0021191 increased bone mineral density of lumbar vertebrae elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae MP:0021192 decreased bone mineral density of sacral vertebrae reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae MP:0021193 increased bone mineral density of sacral vertebrae elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae MP:0021194 decreased bone mineral density of caudal vertebrae reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the coccyx or tail MP:0021195 increased bone mineral density of caudal vertebrae elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the coccyx or tail MP:0021196 decreased bone mineral density of cervical vertebrae reduction in the quantitative measurement value of mineral content of bone in any of the bony segments located anterior to the thoracic vertebrae and caudal to the skull MP:0021197 increased bone mineral density of cervical vertebrae elevation in the quantitative measurement value of mineral content of bone in any of the bony segments located anterior to the thoracic vertebrae and caudal to the skull MP:0021198 abnormal sleep duration any anomaly in the amount of time spent asleep in a defined period of time MP:0021199 abnormal susceptibility to glomerulonephritis a change in the likelihood or extent of inflammation and scarring damage to the glomerulus usually resulting from an autoimmune response MP:0021200 decreased susceptibility to glomerulonephritis a diminished likelihood or extent of inflammation and scarring damage to the glomerulus usually resulting from an autoimmune response MP:0021201 increased susceptibility to glomerulonephritis an increased likelihood or extent of inflammation and scarring damage to the glomerulus usually resulting from an autoimmune response MP:0021202 abnormal palatopharyngeus muscle morphology any structural anomaly in the small muscle in the roof of the mouth that is a long, fleshy fasciculus that forms, with the mucous membrane covering its surface, the palatopharyngeal arch MP:0021203 abnormal palatine aponeurosis morphology any structural anomaly in the thin, firm fibrous lamella attached to the posterior border of the hard palate that serves as the insertion point for the tensor veli palatini and levator veli palatini muscles and provides support for the soft palate MP:0021204 abnormal superior pharyngeal constrictor muscle morphology any structural anomaly in the uppermost of the pharyngeal constrictors and is a quadrilateral muscle that is thinner and paler than the middle and inferior pharyngeal constrictor muscles MP:0021205 effusion an abnormal collection of fluid in cavities or between tissues in the body MP:0021206 abnormal limb muscle morphology any structural anomaly in the muscles that are part of a limb MP:0021207 abnormal autopod muscle morphology any structural anomaly of the muscles of the autopod region MP:0021208 median cleft palate fissure along the midline of the palate MP:0021209 non-midline cleft palate fissure of the palate that is not located along the midline MP:0021210 bilateral cleft palate non-midline fissures of the palate on both the left and right sides MP:0021211 unilateral cleft palate fissure of the palate located on either the left or right side but not both MP:0021212 abnormal primary and secondary palatal fusion any anomaly in the process by which the primary and secondary palates fuse to form the definite palate MP:0021213 complete cleft palate fissure of the palate that involves the full length of both the primary and secondary palates MP:0021214 anterior cleft palate fissure of the palate formed by the failure of fusion between the primary and secondary palates MP:0021215 abnormal palatal mesenchymal cell proliferation any anomaly in the ability of the cranial neural crest derived mesenchymal cells located in the palate to undergo expansion by cell division MP:0021216 abnormal palatal mesenchymal cell differentiation atypical formation of or inability to produce the cranial neural crest derived mesenchymal cells located in the palate MP:0021217 abnormal palatal shelf bone ossification any anomaly in the ossification of the the osteogenic blastemata of the palatal processes of the maxillary and palatine bones formed in the mesenchyme of the hard palate MP:0030000 abnormal subglottis morphology any structural anomaly of the lower portion of the larynx, extending from just beneath the vocal cords down to the top of the trachea; the structures in the subglottis are implicated in the regulation of the temperature of the breath MP:0030001 subglottis stenosis congenital or acquired narrowing or constriction of the subglottic airway, extending from just beneath the vocal cords down to the top of the trachea MP:0030002 increased lung apoptosis acceleration in the timing or in the number of cells of the lung undergoing programmed cell death MP:0030003 hippocampus atrophy acquired diminution of the size of the hippocampus associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal change MP:0030004 hippocampus hypoplasia decrease in the number of normal cells in normal arrangement in the hippocampus, typically resulting in decreased size MP:0030005 increased retina apoptosis increase in the number of cells in the retina undergoing programmed cell death MP:0030006 decreased retina apoptosis decrease in the number of cells in the retina undergoing programmed cell death MP:0030007 abnormal bone marrow adipose tissue morphology any structural anomaly of the functionally distinct adipose depot that is located within the skeleton and has the potential to exert both local and systemic effects on metabolic homeostasis, skeletal remodeling, hematopoiesis, and the development of bone metastases MP:0030008 abnormal bone marrow adipose tissue amount anomaly in the quantity of the bone marrow fat-storing cells/tissue MP:0030009 increased bone marrow adipose tissue amount increased quantity of the bone marrow fat-storing cells/tissue MP:0030011 small cervical lymph nodes reduced size of the lymph nodes found near the neck and shoulders MP:0030012 impaired central nervous system regeneration decrease in the renewal, repair, and/or regrowth of central nervous system tissue following injury or disease MP:0030013 enhanced central nervous system regeneration increase in the renewal, repair, and/or regrowth of central nervous system tissue following injury or disease MP:0030014 calcified brain pathologic deposition of calcium salts in the brain MP:0030016 increased adipocyte glucose uptake increased ability of adipocytes to take in glucose MP:0030017 decreased adipocyte glucose uptake reduced ability of adipocytes to take in glucose MP:0030018 increased cardiac muscle cell glucose uptake increased ability of the cells of the heart muscle to take in glucose MP:0030020 decreased cardiac muscle cell glucose uptake reduced ability of the cells of the heart muscle to take in glucose MP:0030021 increased muscle cell glucose uptake increased ability of muscle cells to take in glucose MP:0030022 decreased muscle cell glucose uptake reduced ability of muscle cells to take in glucose MP:0030023 abnormal meiotic telomere clustering any anomaly in the cell cycle process in which the dynamic reorganization of telomeres occurs in early meiotic prophase, during which meiotic chromosome ends are gathered in a bouquet arrangement at the inner surface of the nuclear envelope proximal to the spindle pole body; this process plays an important role in progression through meiosis and precedes synapsis MP:0030024 abnormal meiotic attachment of telomere to nuclear envelope any anomaly in the meiotic cell cycle process in which physical connections are formed between telomeric heterochromatin and the nuclear envelope, facilitating bouquet formation MP:0030025 giant platelets presence of abnormally enlarged platelets that are as large as or larger than the red blood cells in the microscopic field; giant platelets may be seen in myeloproliferative and myelodysplastic conditions, autoimmune thrombocytopenia, in association with severe leukemoid reactions, and in rare inherited conditions such as Bernard-Soulier syndrome MP:0030026 small Meckel's cartilage reduced size of the cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible and gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments MP:0030027 basioccipital bone hypoplasia decrease in the number of normal cells in normal arrangement in the basioccipital bone, typically resulting in decreased size MP:0030028 absent exoccipital bone absence of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young MP:0030029 wide cranial sutures an abnormally increased width of one or more cranial sutures for age-related norms, generally resulting from delayed suture closure MP:0030030 Wormian bones presence of small extra bone segments, usually of irregular shape and variable size, arising in fontanelles and/or adjacent to or along the cranial sutures, and formed from additional and separate centers of ossification of the cranium; in humans, Wormian bones are most frequently located in the lambdoid or coronal suture, and have been seen in the fontanelles, particularly the posterior fontanelle MP:0030031 abnormal forehead morphology any structural anomaly of the part of the face above the eyes; in human anatomy, the forehead is the fore part of the head, an area of the head bounded by three features, two of the skull and one of the scalp; the top of the forehead is marked by the hairline, the edge of the area where hair on the scalp grows while the bottom of the forehead is marked by the supraorbital ridge, the bone feature of the skull above the eyes; the two sides of the forehead are marked by the temporal ridge, a bone feature that links the supraorbital ridge to the coronal suture line and beyond MP:0030032 high forehead an abnormally increased height of the forehead MP:0030033 abnormal nasal bridge morphology any structural anomaly of the saddle-shaped area that includes the nasal root and the lateral aspects of the nose; it lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi MP:0030034 depressed nasal bridge posterior positioning of the saddle-shaped area that includes the nasal root and the lateral aspects of the nose in relation to the overall facial profile for age; normally, it lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi MP:0030035 small nasal bridge reduced size of the saddle-shaped area that includes the nasal root and the lateral aspects of the nose; it lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi MP:0030036 short nasal bridge reduced length of the saddle-shaped area that includes the nasal root and the lateral aspects of the nose; it lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi MP:0030037 prominent nasal bridge anterior positioning of the saddle-shaped area that includes the nasal root and the lateral aspects of the nose in comparison to the usual positioning for age MP:0030038 abnormal periorbital region morphology any structural anomaly of the region around the eye socket MP:0030039 abnormal facial muscle morphology any structural anomaly of any of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) that, among other things, control facial expression; facial muscles are derived from the second branchial/pharyngeal arch MP:0030040 absent facial muscle absence of any of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) that, among other things, control facial expression; facial muscles are derived from the second branchial/pharyngeal arch MP:0030041 abnormal forehead size deviation from the average range of forehead size for an organism MP:0030042 large forehead presence of an abnormally large forehead MP:0030043 small forehead presence of an abnormally small forehead MP:0030044 short forehead an abnormally decreased height of the forehead MP:0030045 abnormal forehead shape any anomaly in the characteristic surface outline or contour of the forehead MP:0030046 round forehead forehead appearance is more circular than usual as viewed from the front MP:0030047 flat forehead abnormal flatness of the forehead MP:0030048 sloping forehead apparently excessive posterior sloping of the forehead in a lateral view MP:0030049 prominent forehead forward prominence of the entire forehead, due to protrusion of the frontal bone; not to be confused with frontal bossing MP:0030050 large mandible increased size of the lower bony framework of the mouth where the inferior teeth are held MP:0030051 increased foot pigmentation darker color of the foot surface due to excess pigment MP:0030052 abnormal forehead pigmentation anomaly in the coloration of the skin of the forehead due to changes in the amount, shape, or distribution of cells producing pigment MP:0030053 increased forehead pigmentation visually detectable excess of pigment present in the forehead MP:0030054 decreased forehead pigmentation visually detectable dilution of pigment present in the forehead MP:0030055 small lacrimal bone reduced size of the thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla MP:0030056 lacrimal bone hypoplasia decrease in the number of normal cells in normal arrangement in the lacrimal bone, typically resulting in decreased size MP:0030057 absent lacrimal bone absence of the thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla MP:0030058 erythrodontia reddish, brown opalescent discoloration of teeth in normal light MP:0030059 absent ethmoturbinates absence of the conchae of the ethmoid bone which normally occupy the caudal part of the nasal fossae and form the lateral and superior portions of the turbinate bones in mammals MP:0030060 absent nasal pit absence of one or both of a pair of depressions formed in the developing face that give rise to the rostral portion of the nasal meatus; the nasal pits indent the frontonasal process and divide it into a medial and two lateral nasal processes MP:0030061 absent otic pit absence of the paired depression of thickened otic placode epithelium marking the location of the future otic vesicles MP:0030062 choanal stenosis abnormal narrowing or constriction of either of the pair of posterior apertures of the nasal cavity that open into the nasopharynx MP:0030063 abnormal face size deviation from the average range of face size for an organism MP:0030064 small face presence of an abnormally small face MP:0030065 face hypoplasia decrease in the number of normal cells in normal arrangement in the face, typically resulting in decreased size MP:0030066 short face an abnormally decreased height (length) of the face MP:0030067 narrow face a reduction in the width of the upper and lower face MP:0030068 large face presence of an abnormally large face MP:0030069 broad face increased width of the upper and lower face MP:0030070 long face an abnormally increased height (length) of the face MP:0030071 abnormal face shape any anomaly in the characteristic surface outline or contour of the face MP:0030072 round face facial appearance is more circular than usual as viewed from the front MP:0030073 square face facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance MP:0030074 coarse facial features absence of fine and sharp appearance of facial features, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues MP:0030075 hairy ears excessive hair growth on the external ear; may involve the meatal opening, pinnae or external rim MP:0030076 abnormal cranial cavity morphology any anomaly of the space formed within the skull and occupied by the brain, pineal and hypophysis cerebri, parts of the cranial and spinal nerves, blood vessels, meninges and cerebrospinal fluid MP:0030077 small cranial cavity reduced size of the space formed within the skull and occupied by the brain, pineal and hypophysis cerebri, parts of the cranial and spinal nerves, blood vessels, meninges and cerebrospinal fluid MP:0030078 synotia fusion or abnormal approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw MP:0030079 small incisors reduced size of the set of long teeth that are the most anterior and prominent in the jaw MP:0030080 small lower incisors reduced size of the lower set of long teeth that are the most anterior and prominent in the jaw MP:0030081 small upper incisors reduced size of the upper set of long teeth that are the most anterior and prominent in the jaw MP:0030082 long lower incisors increased length or overgrowth of the lower set of long teeth that are the most anterior and prominent in the jaw MP:0030083 long upper incisors increased length or overgrowth of the upper set of long teeth that are the most anterior and prominent in the jaw MP:0030084 tympanic ring hypoplasia decrease in the number of normal cells in normal arrangement in the tympanic ring, typically resulting in decreased size MP:0030085 syngnathia fusion of the upper and lower jaw; fusion can range from simple mucosal bands (synechiae) to complete bony fusion (synostosis); syngnathia can occur in the midline, or laterally, and it can be uni- or bilateral MP:0030086 bony syngnathia bony fusion of the upper and lower jaw MP:0030087 fibrous syngnathia complete or nearly complete soft tissue fusion of the alveolar ridges MP:0030088 microdontia abnormal reduction in the size of one or more teeth MP:0030089 short lower incisors reduced length of the lower set of long teeth that are the most anterior and prominent in the jaw MP:0030090 short upper incisors reduced length of the upper set of long teeth that are the most anterior and prominent in the jaw MP:0030091 macrodontia abnormal increase in the size of one or more teeth MP:0030092 abnormal outer ear helix morphology any structural anomaly of the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe MP:0030093 absent maxillary sinus absence of the largest of the paranasal sinuses, a paired pyramid-shaped air sinus located within the maxillary bone which drains via the maxillary ostium into the infundibulum, then through the hiatus semilunaris into the middle meatus of the nose MP:0030094 foramen magnum stenosis abnormal narrowing or constriction of the large orifice in the occipital bone through which the spinal cord passes to the cranial cavity and becomes continuous with the medulla oblongata MP:0030095 abnormal midface morphology any structural anomaly of the midface region which extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base; it is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region; traditionally, the nose and premaxilla are not included in the midface MP:0030096 abnormal periauricular region morphology any structural anomaly of the region around the ear MP:0030097 preauricular pit small indentation anterior to the insertion of the ear MP:0030098 periorbital fullness increase in periorbital soft tissue MP:0030099 facial asymmetry an abnormal difference between the left and right sides of the face MP:0030100 hemifacial hypoplasia unilateral decrease in the number of normal cells in normal arrangement in the facial tissues, including muscles and bones, typically resulting in decreased size of one side of the face MP:0030101 carious teeth formation of cavities in the teeth due to a multifactorial bacterial infection that causes demineralization and destruction of the hard tissues of the teeth (enamel, dentin and cementum), usually by production of acid by bacterial fermentation of the food debris accumulated on the tooth surface MP:0030102 absent orbitosphenoid bone missing the bone that is situated in the orbit on either side of the presphenoid; it generally forms a part of the sphenoid in the adult, and may be independent in the young MP:0030103 abnormal orbit shape any anomaly in the characteristic surface outline or contour of the orbits of an organism MP:0030104 round orbits orbits present a more circular rather than the ususal oval appearance MP:0030105 bushy muzzle excessive hair growth on or around the muzzle MP:0030106 small incus reduced size of the anvil-shaped, central bone of the three auditory ossicles which articulates with the head of the malleus anteromedially and the stapes inferomedially MP:0030107 incus hypoplasia decrease in the number of normal cells in normal arrangement in the incus, typically resulting in decreased size MP:0030108 abnormal incudostapedial joint morphology any structural anomaly of the small synovial joint located between the lenticular process on the long crus of the incus and the head of the stapes MP:0030109 abnormal incudomalleolar joint morphology any structural anomaly of the saddle-shaped synovial joint located between the incus and the malleus MP:0030110 incudomalleolar fusion bony fusion of the incus and the malleus into a single structure MP:0030111 absent temporomandibular joint absence of the synovial articulation between the head of the mandibular condoyloid process and the mandibular fossa and articular tubercle of the temporal bones MP:0030112 zygomatic bone hypoplasia decrease in the number of normal cells in normal arrangement in the zygomatic bone, typically resulting in decreased size MP:0030113 maxillary sinus inflammation local accumulation of fluid, plasma proteins, and leukocytes in the maxillary sinuses MP:0030114 abnormal nasal columella morphology any structural anomaly of the tissue that links the nasal tip to the nasal base, and separates the nares; it is the inferior margin of the nasal septum MP:0030115 abnormal nasal tip morphology any structural anomaly of the tip of the nose located at the junction of the inferior margin of the nasal ridge and the columella MP:0030116 bifid nasal tip a splitting of the nasal tip; visually assessable vertical indentation, cleft, or depression of the nasal tip MP:0030117 bifid nose visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip MP:0030118 rhinosinusitis local accumulation of fluid, plasma proteins, and leukocytes in the mucous membranes of the nose and in one or more paranasal sinuses MP:0030119 abnormal retrotympanic process morphology any structural anomaly of the posterior extension of the squamosal bone that lies just above the incus MP:0030120 absent retrotympanic process absence of the posterior extension of the squamosal bone that normally lies just above the incus MP:0030121 small temporal bone squamous part reduced size of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault MP:0030122 temporal bone squamous part hypoplasia decrease in the number of normal cells in normal arrangement in the temporal bone squamous part, typically resulting in decreased size MP:0030123 small middle ear ossicles reduced size of the three bones of the middle ear MP:0030124 middle ear ossicle hypoplasia decrease in the number of normal cells in normal arrangement in the middle ear ossicle, typically resulting in decreased size MP:0030125 small gonial bone reduced size of the investing bone that lies on the surface of the malleus MP:0030126 torticollis involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head MP:0030127 small stapes reduced size of the stirrup-shaped ossicle that is the smallest and innermost of the three auditory ossicles MP:0030128 stapes hypoplasia decrease in the number of normal cells in normal arrangement in the stapes, typically resulting in decreased size MP:0030129 tongue inflammation local accumulation of fluid, plasma proteins and leukocytes in the tongue MP:0030130 gum inflammation local accumulation of fluid, plasma proteins, and leukocytes in the gums MP:0030131 abnormal periodontium morphology any structural anomaly of the specialized tissues that both surround and support the teeth, maintaining them in the maxillary and mandibular bones; it consists of four principal components: the gums (gingiva), periodontal ligament, cementum, and alveolar bone proper MP:0030132 periodontium inflammation local accumulation of fluid, plasma proteins, and leukocytes in the periodontium (including the gums and supporting structures of the teeth) MP:0030133 small third pharyngeal arch reduced size of the third branchial arch MP:0030134 small fourth pharyngeal arch reduced size of the fourth branchial arch MP:0030135 small sixth pharyngeal arch reduced size of the sixth branchial arch MP:0030136 abnormal lower incisor morphology any structural anomaly of the lower set of long teeth that are the most anterior and prominent in the jaw MP:0030137 abnormal upper incisor morphology any structural anomaly of the upper set of long teeth that are the most anterior and prominent in the jaw MP:0030138 abnormal lower incisor color anomaly in the color and shading of the lower incisors, which normally presents in shades of white MP:0030139 abnormal upper incisor color anomaly in the color and shading of the upper incisors, which normally presents in shades of white MP:0030140 facial muscle atrophy acquired diminution of facial muscle tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation MP:0030141 facial paralysis severe or complete loss of power of voluntary movement in muscles of the face through injury or disease of it or its nerve supply; facial muscles are innervated by the facial nerve (i.e., the seventh cranial nerve) MP:0030142 facial muscle degeneration pathological deterioration of facial muscle tissue, often accompanied by loss of function MP:0030143 facial muscle spasm sudden, repetitive, nonrhythmic motor movements (spasms) involving the muscles of the face; common types of facial spasms include rapid, repetitive squinting or blinking, grimacing, mouth twitching, and nose twitching MP:0030144 abnormal facial muscle physiology any functional anomaly of any of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) that, among other things, control facial expression MP:0030145 abnormal digastric anterior belly morphology any structural anomaly of the anterior belly of the digastric muscle which arises from a depression on the inner side of the lower border of the mandible called the digastric fossa, close to the symphysis, and passes downward and backward; the anterior body originates from the first pharyngeal arch and is supplied by the trigeminal via the mylohyoid nerve, a branch of the inferior alveolar nerve, itself a branch of the mandibular division of the trigeminal nerve MP:0030146 abnormal digastric posterior belly morphology any structural anomaly of the longer, posterior belly of the digastric muscle arising from the mastoid notch which is on the inferior surface of the skull, medial to the mastoid process of the temporal bone; the posterior belly is supplied by the digastric branch of facial nerve MP:0030147 abnormal digastric muscle physiology any functional anomaly of the digastric muscle whose action elevates the hyoid when the mandible is fixed and depresses the mandible when the hyoid is fixed; when the two bellies of the digastric contract, they pull upward on the hyoid bone; but if the hyoid is fixed from below, the digastric assists in extreme opening of the mouth such as yawning or taking a large bite MP:0030148 abnormal mylohyoid muscle morphology any structural anomaly of the flat and triangular paired muscle that runs from the mandible to the hyoid bone forming the muscular floor of the oral cavity of the mouth; it is a suprahyoid muscle derived from the first pharyngeal arch that is situated immediately superior to the anterior belly of the digastric muscle MP:0030149 abnormal stylohyoid muscle morphology any structural anomaly of the slender suprahyoid muscle lying anterior and superior of the posterior belly of the digastric muscle; it arises from the styloid process of the temporal bone and inserts into the body of the hyoid bone; it is perforated, near its insertion, by the intermediate tendon of the digastric muscle; the stylohyoid elevates and retracts the hyoid bone, elongating the floor of the mouth during swallowing MP:0030150 absent stylohyoid muscle absence of the slender suprahyoid muscle lying anterior and superior of the posterior belly of the digastric muscle that elevates and retracts the hyoid bone, elongating the floor of the mouth during swallowing MP:0030151 abnormal buccinator muscle morphology any structural anomaly of the thin quadrilateral muscle occupying the interval between the maxilla and the mandible at the side of the face that forms the anterior part of the cheek or the lateral wall of the oral cavity; it compresses the cheeks against the teeth and is used in acts such as blowing; it is an assistant muscle of mastication and in neonates it is used to suckle MP:0030152 abnormal depressor anguli oris muscle morphology any structural anomaly of the facial muscle that originates from the mandible and inserts into the angle of the mouth; it is innervated by the marginal mandibular branch of the facial nerve and receives its blood supply from the facial artery; the muscle depresses the corners of the mouth which is associated with frowning MP:0030153 dental pulp inflammation local accumulation of fluid, plasma proteins, and leukocytes in dental pulp tissue; commonly associated with a bacterial infection but can also be due to other insults such as repetitive trauma or in rare cases periodontitis MP:0030154 abnormal tympanic cavity morphology any structural anomaly of the small, air-filled, mucosa-lined cavity that is located in the petrous portion of the temporal bone and houses the auditory ossicles and intratympanic muscles (tensor tympani and stapedius) as well as the chorda tympani and the tympanic plexus of nerves; it is split into two parts: the tympanic cavity proper (the space directly internal to the tympanic membrane) and the epitympanic recess or attic (the space superior to the tympanic membrane) MP:0030155 absent tympanic cavity absence of the small, air-filled, mucosa-lined cavity that is located in the petrous portion of the temporal bone and houses the auditory ossicles and intratympanic muscles (tensor tympani and stapedius) as well as the chorda tympani and the tympanic plexus of nerves MP:0030156 abnormal tympanic cavity muscle morphology any structural anomaly of either of the two tiny striated muscles (tensor tympani and stapedius) located within the tympanic cavity; these muscles contract in response to loud noise, inhibiting the vibrations of the malleus, incus and stapes, and reducing the transmission of sound to the inner ear MP:0030157 abnormal stapedius muscle morphology any structural anomaly of the tiny striated muscle found in the pyramidal eminence on the posterior wall of the tympanic cavity, whose tendon inserts onto the neck of the stapes; like the tensor tympani, it helps to dampen loud sounds; it is innervated by a small branch from the facial nerve MP:0030158 absent stapedius muscle missing the tiny muscle normally found in the pyramidal eminence on the posterior wall of the tympanic cavity, whose tendon inserts onto the neck of the stapes MP:0030159 abnormal tensor tympani muscle morphology any structural anomaly of the tiny striated muscle that originates superior to the pharyngotympanic tube, the sphenoid, and the temporal bone and inserts into the handle of the malleus; it tenses the tympanic membrane and dampens the movements of the auditory ossicles to prevent ear damage from loud sounds; it is innervated by the trigeminal nerve MP:0030160 abnormal auditory bulla morphology any structural anomaly of the hollow bony structure on the ventral, posterior portion of the skull that encloses parts of the middle and inner ear; in most species, it is formed by the tympanic part of the temporal bone MP:0030161 absent auditory bulla absence of the hollow bony structure normally found on the ventral, posterior portion of the skull that encloses parts of the middle and inner ear; in most species, it is formed by the tympanic part of the temporal bone MP:0030162 absent hyoid bone body absence of the main curve of the hyoid bone from which the horns extend MP:0030163 abnormal canthus morphology any structural anomaly of either corner of the eye where the upper and lower eyelids meet; more specifically, the inner and outer canthi are, respectively, the medial and lateral ends/angles of the palpebral fissure MP:0030164 abnormal inner canthus morphology any structural anomaly of the inner corner of the eye where the upper and lower eyelids meet, i.e. the medial end/angle of the palpebral fissure MP:0030165 abnormal outer canthus morphology any structural anomaly of the outer corner of the eye where the upper and lower eyelids meet, i.e. the lateral end/angle of the palpebral fissure MP:0030166 increased inner canthal distance increased distance between the inner corners (medial canthi) of the eyes where the eyelids meet; may be present without or with ocular hypertelorism (where interpupillary distance is increased) MP:0030167 decreased inner canthal distance decreased distance between the inner corners (medial canthi) of the eyes where the eyelids meet MP:0030168 thin upper lip upper lips having a reduced amount of soft tissue MP:0030169 thick upper lip upper lips having an abundance and often an excess of soft tissue MP:0030170 absent mandibular symphysis absence of the fibrocartilagenous union of the two halves of the mandible (embryonic stages) MP:0030171 absent extraocular muscles missing the striated muscles that are located within the orbit but are extrinsic and separate from the eyeball itself and control the movements of the eyeball and the superior eyelid MP:0030172 abnormal eyelid muscle morphology any structural anomaly of any of the muscles that attach to an eyelid MP:0030173 abnormal orbicularis oculi muscle morphology any structural anomaly of the ring-like (sphincter) facial muscle composed of skeletal muscle fibers and arranged in concentric bands around the upper and lower eyelids; its function is to close the eyelids, and to help in the passing and draining of tears through the punctum, canaliculi, and lacrimal sac, all parts of the tear drainage system MP:0030174 absent orbicularis oculi muscle absence of the ring-like (sphincter) facial muscle composed of skeletal muscle fibers and arranged in concentric bands around the upper and lower eyelids; its primary function is to close the eyelids MP:0030175 orbicularis oculi muscle hypoplasia decrease in the number of normal cells in normal arrangement in the orbicularis oculi muscle, typically resulting in decreased size MP:0030176 abnormal levator labii superioris muscle morphology any structural anomaly of the facial muscle that is shaped like a broad, flat sheet, the origin of which extends from the side of the nose to the zygomatic bone; its main function is to elevate the upper lip MP:0030177 absent levator labii superioris muscle missing the facial muscle that is shaped like a broad, flat sheet, the origin of which extends from the side of the nose to the zygomatic bone; its main function is to elevate the upper lip MP:0030178 abnormal scalp morphology any structural anomaly of the soft tissue envelope of the cranial vault that extends from the external occipital protuberance and superior nuchal lines to the supraorbital margins; it consists of 5 layers: the skin (and head hair), connective tissue, epicranial aponeurosis, loose areolar tissue, and pericranium; the first 3 layers are bound together as a single unit that can move along the loose areolar tissue over the pericranium, which is adherent to the calvaria MP:0030179 abnormal oral epithelium morphology any structural anomaly of the stratified squamous epithelium that forms part of the oral mucosa and lines the inner aspect of the oral cavity; depending on the mouth region, the epithelium may be non-keratinized or keratinized; non-keratinized squamous epithelium covers the soft palate, inner lips, inner cheeks, and the floor of the mouth, and ventral surface of the tongue; keratinized squamous epithelium is present in the attached gingiva and hard palate as well as areas of the dorsal surface of the tongue MP:0030180 abnormal nasal fin morphology any structural anomaly of the transient epithelial seam that develops by fusion between the epithelial linings of the medial and lateral nasal swellings; shortly after its formation the nasal fin regresses and is replaced by mesenchyme, with exception of its most posterior portion which remains as the bucconasal membrane MP:0030181 persistent nasal fins failure of the nasal fins to rupture during development leading to choanal obstruction/atresia MP:0030182 abnormal oronasal membrane morphology any structural anomaly of the thin, transient epithelial sheet which separates the primordial nasal cavity from the stomatodeum; in mammals, bucconasal membranes demarcate the locations of the paired primitive choanae MP:0030183 persistent oronasal membrane failure of the oronasal membrane to rupture during development leading to choanal obstruction MP:0030184 abnormal zygomaticus muscle morphology any structural anomaly of the zygomaticus major and/or minor facial muscles that originate from the body of the zygoma and pass downwards to insert into the corner of the mouth and lateral aspect of the upper lip, respectively; these muscles receive their nerve supply on their deep surface from the zygomatic and buccal branches of the facial nerve and lift the corners of the mouth MP:0030185 abnormal minor zygomaticus muscle morphology any structural anomaly of the slender band of muscle on each side of the face that arises from the zygomatic bone, inserts into the upper lip between the zygomaticus major and the levator labii superioris, and acts to raise the upper lip upward and laterally MP:0030186 abnormal major zygomaticus muscle morphology any structural anomaly of the slender band of muscle on each side of the face that arises from the zygomatic bone, inserts into the orbicularis oris and skin at the corner of the mouth, and acts to pull the corner of the mouth upward and backward when smiling or laughing MP:0030187 abnormal epitympanic recess morphology any structural anomaly of the upper portion of the tympanic cavity located above the tympanic membrane; it contains the head of the malleus and the body of the incus MP:0030188 round snout appearance of the anterior facial part of the face or muzzle containing the oral and nasal regions is more circular than usual MP:0030189 broad snout increased width of the anterior facial part of the face or muzzle containing the oral and nasal regions MP:0030190 small snout decreased size of the anterior facial part of the face or muzzle containing the oral and nasal regions MP:0030191 narrow snout decreased width of the anterior facial part of the face or muzzle containing the oral and nasal regions MP:0030192 downturned snout muzzle has a curve or tilt such that the tip points downwards MP:0030193 short philtrum decreased length of the vertical groove found on the median line of the upper lip MP:0030194 abnormal intermaxillary suture morphology any structural anomaly of the anterior median suture between the two maxillae of the upper jawbone, located between the inferior border of the nasal aperture and the central incisor teeth; it usually ossifies later in life and becomes a synostosis MP:0030195 abnormal internasal suture morphology any structural anomaly of the cranial suture found between the left and right nasal bones MP:0030196 abnormal nasomaxillary suture morphology any structural anomaly of the cranial suture found between the nasal bone and the frontal process of the maxilla MP:0030197 small nasal septum reduced size of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils MP:0030198 nasal septum hypoplasia decrease in the number of normal cells in normal arrangement in the nasal septum, typically resulting in decreased size MP:0030199 deviated nasal septum displacement of the nasal septum in which the top of the cartilaginous ridge leans to the left or the right, causing obstruction of the affected nasal passage; normally, the septum lies centrally, and thus the nasal passages are symmetrical MP:0030200 abnormal nasal septum cartilage morphology any structural anomaly of the hyaline cartilage of the nasal septum that is somewhat quadrilateral in shape, thicker at its margins than at its center, and completes the separation between the nasal cavities MP:0030201 absent nasal septum cartilage absence of the hyaline cartilage of the nasal septum that is somewhat quadrilateral in shape, thicker at its margins than at its center, and completes the separation between the nasal cavities MP:0030202 nasal septum cartilage hypoplasia decrease in the number of normal cells in normal arrangement in the nasal septum cartilage, typically resulting in decreased size MP:0030203 short nasal septum reduced length of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils MP:0030204 large nasal septum increased size of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils MP:0030205 thick nasal septum increased width of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils MP:0030206 thin nasal septum decreased width of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils MP:0030207 absent zygomaticus muscle absence of the zygomaticus major and/or minor facial muscles that originate from the body of the zygoma and pass downwards to insert into the corner of the mouth and lateral aspect of the upper lip, respectively MP:0030208 abnormal intrinsic tongue muscle morphology any structural anomaly of any of the four paired muscles that originate and insert within the tongue, running along its length; these muscles alter the shape of the tongue by lengthening and shortening it, curling and uncurling its apex and edges, and flattening and rounding its surface; they include the superior longitudinal muscle, the inferior longitudinal muscle, the vertical muscle, and the transverse muscle MP:0030209 abnormal extrinsic tongue muscle morphology any structural anomaly of any of the four paired muscles that originate outside of and insert into the tongue and act to alter the position of the tongue, allowing for protrusion, retraction, and side-to-side movement; these muscles include the genioglossus, the hyoglossus (often including the chondroglossus), the styloglossus, and the palatoglossus MP:0030210 abnormal genioglossus muscle morphology any structural anomaly of the paired, fan-shaped extrinsic tongue muscle which forms the majority of the body of the tongue, arises from the mental spine of the mandible and inserts into the hyoid bone and the bottom of the tongue; its action protracts and depresses the tongue MP:0030211 abnormal styloglossus muscle morphology any structural anomaly of the paired extrinsic tongue muscle that arises from the anterior surface of the styloid process of the mastoid bone and the proximal quarter of the stylohyoid ligament; it passes inferiorly and anteriorly to insert into the side and inferior aspects of the tongue; the muscle fibers of styloglossus merge with those of the hyoglossus; its action aids to retract the tongue and draw up the sides of the tongue to create a trough for swallowing MP:0030212 abnormal hyoglossus muscle morphology any structural anomaly of the thin, quadrilateral extrinsic tongue muscle that arises from the side of the body and from the whole length of the greater cornu of the hyoid bone, and passes almost vertically upward to enter the side of the tongue, between the styloglossus and the inferior longitudinal muscle of the tongue; its action depresses and retracts the tongue and makes the dorsum more convex MP:0030213 gonial bone hyperplasia increase in the number of normal cells in normal arrangement in the gonial bone, typically resulting in increased size MP:0030214 muscle fasciculation small, local, involuntary muscle contractions affecting a small number of muscle fibers, often causing a flicker of movement visible under the skin; fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron); this leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units MP:0030215 facial muscle fasciculation fasciculations affecting the musculature of the face MP:0030216 tongue muscle fasciculation fasciculations affecting the tongue muscle MP:0030217 abnormal piriform aperture morphology any structural anomaly of the pear-shaped bony inlet comprising the most anterior and narrowest bony portion of the nasal airway, formed by the nasal and maxillary bones; the maxillary spines mark the inferior margin of the piriform aperture MP:0030218 piriform aperture stenosis abnormal narrowing or constriction of the pear-shaped bony inlet comprising the most anterior and narrowest bony portion of the nasal airway MP:0030219 jaw cyst presence of one or more saccular lesions lined with epithelium and contained within pathologically formed cavities in the jaw; also non-epithelial cysts (pseudocysts) as they apply to the jaw, e.g., traumatic or solitary cyst, static bone cavity, and aneurysmal bone cyst; true jaw cysts are classified as odontogenic or non-odontogenic MP:0030220 mandibular cyst presence of one or more saccular lesions lined with epithelium and contained within pathologically formed cavities in the mandible MP:0030221 maxillary cyst presence of one or more saccular lesions lined with epithelium and contained within pathologically formed cavities in the maxilla MP:0030222 hyperostosis excessive growth or abnormal thickening of bone tissue; it may lead to exostosis MP:0030223 mandibular hyperostosis hyperostosis (bony overgrowth) of the mandible MP:0030224 abnormal soft palate muscle morphology any structural anomaly of any of the five paired muscles of the soft palate that play important roles in swallowing and breathing; these muscles include the tensor veli palatini, palatoglossus, palatopharyngeus, levator veli palatini, and the musculus uvulae muscles MP:0030225 abnormal cranial vertex morphology any structural anomaly of the midline bony landmark at the most superior part of the calvaria, near the midpoint of the sagittal suture (i.e. between the bregma and lambda) MP:0030226 middle ear polyps development of numerous growths that are connected to and protrude from the mucous membrane of the middle ear MP:0030227 abnormal tubotympanic recess morphology any structural morphology of the elongate recess derived from the first pharyngeal pouch; its distal part contributes to the formation of the tympanic membrane, its proximal part elongates to form the auditory tube, and its cavity gives rise to the tympanic cavity and mastoid antrum MP:0030228 absent tubotympanic recess absence of the elongate recess derived from the first pharyngeal pouch; its distal part contributes to the formation of the tympanic membrane, its proximal part elongates to form the auditory tube, and its cavity gives rise to the tympanic cavity and mastoid antrum MP:0030229 abnormal craniofacial suture morphology any structural anomaly of any of the dense, fibrous connective tissue joints between cranial and/or facial bones MP:0030230 abnormal facial suture morphology any structural anomaly of any of the dense, fibrous connective tissue joints between facial bones MP:0030231 abnormal zygomaticomaxillary suture morphology any structural anomaly of the suture between the zygomatic process of the maxilla and the maxillary margin of the zygomatic bone MP:0030232 abnormal mandibular canal morphology any structural anomaly of the canal located within the internal aspect of the mandible which contains the inferior alveolar nerve, artery and the vein; it starts at the mandibular foramen, on the lingual side of the ramus, continues on the buccal surface of the body of the mandible, and ends at the mental foramen MP:0030233 absent mandibular canal absence of the canal that is normally located within the internal aspect of the mandible and contains the inferior alveolar nerve, artery and the vein MP:0030234 abnormal mandibular foramen morphology any structural anomaly of the opening located on the medial surface of the ramus of the mandible that is the entrance to the mandibular canal; it transmits the inferior alveolar nerve, a branch of the posterior division of the mandibular division of the trigeminal nerve that supplies all the ipsilateral teeth up to the midline MP:0030235 absent mandibular foramen absence of the opening that is normally located on the medial surface of the ramus of the mandible and forms the entrance to the mandibular canal MP:0030236 abnormal mental foramen morphology any structural anomaly of the small opening located on the anterior surface of the mandible; the mental nerve, a terminal branch of inferior alveolar nerve, and the mental artery leave the mandibular canal through it MP:0030237 absent mental foramen absence of the small opening located on the anterior surface of the mandible; normally, the mental nerve, a terminal branch of inferior alveolar nerve, and the mental artery leave the mandibular canal through it MP:0030238 abnormal extraocular muscle development any anomaly in the differentiation of any of the striated muscles that are located within the orbit but are extrinsic and separate from the eyeball and control the movements of the eyeball and the superior eyelid; these include the superior rectus, inferior rectus, medial rectus, lateral rectus, inferior oblique, superior oblique, and levator palpebrae superioris MP:0030239 abnormal intraocular muscle development any anomaly in the differentiation of any of the smooth muscles located within the eye MP:0030240 abnormal suprahyoid muscle morphology any structural anomaly of any of the four muscles located above the hyoid bone in the neck; these muscles include the digastric, stylohyoid, geniohyoid, and mylohyoid muscles and are all pharyngeal muscles, with the exception of the geniohyoid muscle; they have different actions but in general assist in elevating the hyoid bone and widening the esophagus during swallowing MP:0030241 absent optic pit absence of either or both of the two pits that appear bilaterally in the region destined to become the forebrain as the cranial neural folds fuse; these optic pits or sulci continue to deepen laterally and bulge from the two sides of the forebrain to become the optic vesicles MP:0030242 small optic pit reduced size of either or both of the two pits that appear bilaterally in the region destined to become the forebrain as the cranial neural folds fuse; these optic pits or sulci continue to deepen laterally and bulge from the two sides of the forebrain to become the optic vesicles MP:0030243 abnormal chin morphology any structural anomaly of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw MP:0030244 short chin decreased vertical dimension of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw MP:0030245 round head overall shape of the head is more circular than usual as viewed from the front MP:0030246 abnormal cheek morphology any anomaly of the cheek - one of two bilateral soft tissue structures located in the midface region between the zygoma and the mandible MP:0030247 prominent cheeks increased prominence or roundness of the soft tissues between the zygomata and the mandible MP:0030248 narrow maxilla reduced width of the upper bony framework of the mouth where the superior teeth are held MP:0030249 small frontonasal prominence reduced size of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout MP:0030250 frontonasal prominence hypoplasia decrease in the number of normal cells in normal arrangement in the frontonasal prominence, typically resulting in decreased size MP:0030251 broad frontonasal prominence increased width of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout MP:0030252 narrow frontonasal prominence decreased width of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout MP:0030253 vertical orbital dystopia the orbits do not lie on the same horizontal plane, that is, one eye is lower than the other MP:0030254 abnormal dental arch morphology any structural anomaly of either of the two arches (crescent arrangements) of teeth, one on each jaw, that together constitute the dentition MP:0030255 abnormal maxillary dental arch morphology any structural anomaly of the dental arch formed by the teeth of the maxilla (upper jaw bone) MP:0030256 abnormal mandibular dental arch morphology any structural anomaly of the dental arch formed by the teeth of the mandible (lower jaw bone) MP:0030257 increased tongue papilloma incidence greater than the expected number of benign tumors consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic epithelial cells in the tongue MP:0030258 small mandibular condyloid process reduced size of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint MP:0030259 mandibular condyloid process hypoplasia decrease in the number of normal cells in normal arrangement in the mandibular condyloid process, typically resulting in decreased size MP:0030260 abnormal palatomaxillary suture morphology any structural anomaly of the transverse suture across the back of the hard palate that separates the maxillary shelf of the palate from the horizontal plates of the palatine bones MP:0030261 abnormal temporal bone zygomatic process morphology any structural anomaly of the long, arched process that projects from the lower region of the squamous part of the temporal bone and articulates with the zygomatic bone; this process is at first directed lateralward, its two surfaces looking upward and downward; it then appears as if twisted inward upon itself, and runs forward, its surfaces now looking medialward and lateralward MP:0030262 frontal bossing bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline; this is not the same as prominent forehead MP:0030263 cranial bossing abnormal prominence or protrusion of various bones of the skull; most often occurs in the frontal bones beneath the forehead MP:0030264 occipital bossing an area of marked prominence or protrusion in the occipital region at the back of the skull MP:0030265 parietal bossing an area of marked prominence or protrusion in the parietal region MP:0030266 small vomer bone reduced size of the triangular flat bone of the nasal septum MP:0030267 decreased basicranium angle a decrease in the expected angle formed by a line representing the floor of the anterior cranial fossa intersecting a line representing the axis of the clivus of the base of the skull MP:0030268 agnathia congenital, complete or partial, absence of one or both jaws; total absence of the maxilla and/or mandible is extremely rare in mammals; when agnathia occurs, it may be combined with cyclopia or synotia MP:0030269 absent mandibular ramus absence of the upturned perpendicular extremity of the mandible MP:0030270 retrogenia abnormal posterior-shifted positioning of the chin in relation to the rest of the facial skeleton; occlusion is normal MP:0030271 abnormal foramen rotundum morphology any structural anomaly of the circular aperture (foramen) located in the middle cranial fossa, inferomedial to the superior orbital fissure at the base of greater wing of sphenoid; its medial border is formed by the lateral wall of the sphenoid sinus; it runs downwards and laterally in an oblique path and joins the middle cranial fossa with the pterygopalatine fossa; it transmits the maxillary branch of trigeminal nerve, artery of foramen rotundum, and emissary veins MP:0030272 abnormal cranial foramen ovale morphology any structural anomaly of the oval-shaped opening in the middle cranial fossa located at the posterior base of the greater wing of the sphenoid bone, lateral to the lingual; it transmits the mandibular division of the trigeminal nerve, accessory meningeal artery, emissary veins between the cavernous sinuses and pterygoid plexus, otic ganglion, and occasionally the nervus spinosus and lesser petrosal nerve MP:0030273 mandibular retrognathia abnormal posterior-shifted positioning of the lower jaw (mandible) relative to the facial skeleton and soft tissues MP:0030274 maxillary retrognathia abnormal posterior-shifted positioning of the upper jaw (maxilla) relative to the facial skeleton and soft tissues MP:0030275 thin frontal bone reduced thickness of the single bone forming the forehead and roof of the eye orbit MP:0030276 anterior cranium occultum presence of an abnormal skin-covered gap in the front of the head, usually due to increased distance between the frontal bones MP:0030277 thin interparietal bone reduced thickness of the bone of the cranium that lies above and anterior to the occipital bone in some mammals MP:0030278 thick neurocranium increased thickness of the bones of the skull enclosing the brain MP:0030279 thin neurocranium decreased thickness of the bones of the skull enclosing the brain MP:0030280 short parietal bone length reduction of the paired membranous bones located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium MP:0030281 thin parietal bone reduced thickness of the paired membranous bones located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium MP:0030282 broad supraoccipital bone increased width of the bone on the dorsal side of the great foramen of the skull, which usually forms a part of the occipital in the adult, but is distinct in the young MP:0030283 small mandibular coronoid process reduced size of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion) MP:0030284 short mandibular coronoid process length reduction or truncation of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion) MP:0030285 mandibular coronoid process hypoplasia decrease in the number of normal cells in normal arrangement in the mandibular coronoid process, typically resulting in decreased size MP:0030286 occipital bone hypoplasia decrease in the number of normal cells in normal arrangement in the occipital bone, typically resulting in decreased size MP:0030287 enlarged occipital bone increased size of the bone at the lower, posterior part of the skull MP:0030288 broad occipital bone increased width of the bone at the lower, posterior part of the skull MP:0030289 flat occipital bone abnormal flatness of the bone at the lower, posterior part of the skull MP:0030290 absent soft palate absence of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult MP:0030291 short soft palate reduced length of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult MP:0030292 abnormal tensor veli palatini muscle morphology any structural anomaly of the broad, thin, ribbon-like muscle that tenses the soft palate MP:0030293 small tensor veli palatini muscle reduced size of the broad, thin, ribbon-like muscle that tenses the soft palate MP:0030294 abnormal levator veli palatini muscle morphology any structural anomaly of the paired cylindrical muscle that forms a V-shaped sling behind and above the soft palate; it originates from the apex of the inferior surface of the petrous temporal bone and the medial rim of the auditory tube, and inserts into the palatine aponeurosis between the two heads of palatopharyngeus; it elevates and laterally deviates the soft palate; it also aids the tensor veli palatini in opening the auditory tube on swallowing to allow equalization of pressure between the middle ear and pharynx MP:0030295 small levator veli palatini muscle reduced size of the paired cylindrical muscle that forms a V-shaped sling behind and above the soft palate; it originates from the apex of the inferior surface of the petrous temporal bone and the medial rim of the auditory tube, and inserts into the palatine aponeurosis between the two heads of palatopharyngeus; it elevates and laterally deviates the soft palate; it also aids the tensor veli palatini in opening the auditory tube on swallowing to allow equalization of pressure between the middle ear and pharynx MP:0030296 abnormal infraorbital foramen morphology any structural anomaly of either of a pair of external openings (foramina) in the maxillary bone of the skull located below the infraorbital margin of the orbit; it transmits the infraorbital artery and vein, and the infraorbital nerve, a branch of the maxillary nerve MP:0030297 outer ear hypoplasia decrease in the number of normal cells in normal arrangement in the outer ear, typically resulting in decreased size MP:0030298 jaw transformation homeotic transformation of either jaw to adopt the fate of the other MP:0030299 lower jaw to upper jaw transformation homeotic transformation of lower jaw (mandibular) elements into upper jaw-like (maxillary) structures MP:0030300 upper jaw to lower jaw transformation homeotic transformation of upper jaw (maxillary) elements into lower jaw-like (mandibular) structures MP:0030301 abnormal maxillary frontal process morphology any structural anomaly of the upward extension from the body of the maxilla which articulates with the frontal bone; the frontal process has a vertical ridge which constitutes the medial border of the orbit (anterior lacrimal crest); posteriorly it forms the lacrimal groove together with the lacrimal bone; superomedially it is in close contact with the anterior ethmoidal sinuses MP:0030302 abnormal maxillary zygomatic process morphology any structural anomaly of the rough triangular eminence situated at the angle of separation of the anterior, zygomatic, and orbital surfaces; in front, it forms part of the anterior surface; behind, it is concave, and forms part of the infratemporal fossa; above, it is rough and serrated for articulation with the zygomatic bone; below, it presents the prominent arched border which marks the division between the anterior and infratemporal surfaces MP:0030303 small ethmoid bone reduced size of the single midline facial bone that separates the nasal cavity from the brain, located at the roof of the nose between the two orbits MP:0030304 abnormal cribriform plate morphology any structural anomaly of the sieve-like structure located between the anterior cranial fossa and the nasal cavity; it is a part of the ethmoid bone and supports the olfactory bulb, which lies in the olfactory fossa; it is perforated by foramina for the passage of the olfactory nerves and the anterior ethmoidal nerves to the upper part of the nasal septum, the latter of those to the superior nasal concha MP:0030305 small cribriform plate reduced size of the sieve-like structure located between the anterior cranial fossa and the nasal cavity; it is a part of the ethmoid bone and supports the olfactory bulb, which lies in the olfactory fossa MP:0030306 abnormal cranial fossa morphology any structural anomaly of any of the three large depressions in the posterior, middle, and anterior aspects of the floor of the cranial cavity; each cranial fossa accommodates a different part of the brain MP:0030307 abnormal anterior cranial fossa any structural anomaly of the depression in the floor of the cranial base which houses the projecting frontal lobes of the brain; it is formed by the orbital plates of the frontal, the cribriform plate of the ethmoid, and the small wings and front part of the body of the sphenoid; it is limited behind by the posterior borders of the small wings of the sphenoid and by the anterior margin of the chiasmatic groove; the lesser wings of the sphenoid separate the anterior and middle fossae MP:0030308 abnormal middle cranial fossa morphology any structural anomaly of the butterfly-shaped depression which is centrally located in the cranial floor, narrow in the middle and wider laterally, and houses the temporal lobes of the cerebrum and the pituitary gland; it is separated from the posterior fossa by the clivus and the petrous crest; it is bounded: in front, by the posterior margins of the lesser wings of the sphenoid bone, the anterior clinoid processes, and the ridge forming the anterior margin of the chiasmatic groove; behind, by the superior angles of the petrous portions of the temporal bones and the dorsum sellae; laterally, by the temporal squamae, sphenoidal angles of the parietals, and greater wings of the sphenoid; it is traversed by the squamosal, sphenoparietal, sphenosquamosal, and sphenopetrosal sutures MP:0030309 abnormal posterior cranial fossa morphology any structural anomaly of the most inferior and deepest of the cranial fossae, located between the foramen magnum and tentorium cerebelli, which houses the brainstem and cerebellum; it is bounded anteriorly and medially by the dorsum sellae of the sphenoid bone; anteriorly and laterally by the superior border of the petrous part of the temporal bone; and posteriorly by the internal surface of the squamous part of the occipital bone; its floor consists of the mastoid part of the temporal bone and the squamous, condylar and basilar parts of the occipital bone MP:0030310 abnormal cranial foramen morphology any structural anomaly of any of the openings or orifices (foramina) in the skull through which cranial nerves, arteries, veins and other structures pass into and out of the cranium MP:0030311 abnormal mandibular fossa morphology any structural anomaly of the depression in the temporal bone that articulates with the mandible; it is a part of the temporomandibular joint and lodges the condyle of the mandible; in the temporal bone, the mandibular fossa is bounded anteriorly by the articular tubercle and posteriorly by the tympanic portion of the temporal bone, which separates it from the external acoustic meatus; the fossa is divided into two parts by a narrow slit, the petrotympanic fissure MP:0030312 enlarged pharyngeal arch increased size of one or more of the transient structures of the embryo that develop into regions of the head, neck and ears MP:0030313 abnormal face development any anomaly in the process in which the anatomical structures of the face are generated and organized MP:0030314 absent primary palate missing the initial portion of the palate formed from the intermaxillary segment MP:0030315 small neurocranium decreased size of the bones of the skull enclosing the brain MP:0030316 enlarged neurocranium increased size of the bones of the skull enclosing the brain MP:0030317 absent maxillary zygomatic process absence of the rough triangular eminence situated at the angle of separation of the anterior, zygomatic, and orbital surfaces; in front, it forms part of the anterior surface; behind, it is concave, and forms part of the infratemporal fossa; above, it is rough and serrated for articulation with the zygomatic bone; below, it presents the prominent arched border which marks the division between the anterior and infratemporal surfaces MP:0030318 enlarged maxillary zygomatic process increased size of the rough triangular eminence situated at the angle of separation of the anterior, zygomatic, and orbital surfaces; in front, it forms part of the anterior surface; behind, it is concave, and forms part of the infratemporal fossa; above, it is rough and serrated for articulation with the zygomatic bone; below, it presents the prominent arched border which marks the division between the anterior and infratemporal surfaces MP:0030319 abnormal temporal bone petrous part morphology any structural anomaly of the dense, pyramid-shaped portion of the temporal bone that is wedged in at the base of the skull between the sphenoid and occipital bones; directed medially, forward, and a little upward, it presents a base, an apex, three surfaces, and three angles, and houses in its interior, the components of the inner ear; the petrous portion is among the most basal elements of the skull and forms part of the endocranium MP:0030320 abnormal temporal bone tympanic part morphology any structural anomaly of the curved plate of bone that is situated inferiorly to the squamous part and anteriorly to the mastoid part of the temporal bone; it surrounds the external auditory meatus, forming the anterior wall, floor and some of the posterior wall of the bony external acoustic meatus; its lateral border gives the attachment to the cartilaginous part of the external acoustic meatus; its anteroinferior surface forms the posterior boundary of the mandibular fossa MP:0030321 abnormal tegmen tympani morphology any structural anomaly of the thin plate of bone which separates the middle ear (tympanic) cavity from the dura of the middle cranial fossa and forms the roof of the middle ear cavity; it is formed in part by the petrous portion of the temporal bone, and the squamous portion of the temporal bone MP:0030322 styloid process hypoplasia decrease in the number of normal cells in normal arrangement in the styliod process, typically resulting in decreased size MP:0030323 short styloid process length reduction or truncation of the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments MP:0030324 abnormal anterior head development any anomaly in the process in which the anatomical structures of the anterior part of the head are generated and organized MP:0030325 abnormal periocular mesenchyme apoptosis change in the timing or the number of cells of the periocular mesenchyme undergoing programmed cell death MP:0030326 decreased periocular mesenchyme apoptosis reduction in the number of cells of the periocular mesenchyme undergoing programmed cell death MP:0030327 temporomandibular joint ankylosis fusion or adherence of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening; true ankylosis may be bony or fibrous; in bony ankylosis, the condyle or ramus is attached to the temporal or zygomatic bone by an osseous bridge; in fibrous ankylosis a soft tissue (fibrous) union of joint components occurs while the bone components appear normal MP:0030328 glossopalatal ankylosis presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge MP:0030329 absent temporal bone petrous part absence of the dense, pyramid-shaped portion of the temporal bone that is wedged in at the base of the skull between the sphenoid and occipital bones; directed medially, forward, and a little upward, it presents a base, an apex, three surfaces, and three angles, and houses in its interior, the components of the inner ear; the petrous portion is among the most basal elements of the skull and forms part of the endocranium MP:0030330 abnormal temporomandibular joint disk morphology any structural anomaly of the oval, biconcave, avascular fibrocartilaginous structure located between the condyle of the mandible and the mandibular (glenoid) fossa of the temporal bone; the disk provides the gliding surface for the mandibular condyle, resulting in smooth joint movement; it splits the temporomandibular joint into two synovial joint cavities, each lined by a synovial membrane, and separates translational and rotational motion MP:0030331 absent temporomandibular joint disk missing the oval, biconcave, avascular fibrocartilaginous structure located between the condyle of the mandible and the mandibular (glenoid) fossa of the temporal bone; the disk provides the gliding surface for the mandibular condyle, resulting in smooth joint movement; it splits the temporomandibular joint into two synovial joint cavities, each lined by a synovial membrane, and separates translational and rotational motion MP:0030332 accelerated temporomandibular joint osteoarthritis earlier onset or more rapid progression of a degenerative condition of the temporomandibular joint that results from breakdown of joint cartilage and underlying bone; erosive lesions and joint space narrowing usually indicate acute or early changes, whereas sclerosis, flattening, subchondral cysts, and osteophytes may indicate late changes MP:0030333 abnormal palatine bone perpendicular plate morphology any structural anomaly of the part of the palatine bone that extends vertically upward from the horizontal lamina; it forms part of the lateral wall of the nasal cavity MP:0030334 absent sixth pharyngeal arch artery failure to develop or absence of the sixth pharyngeal arch artery MP:0030335 absent third pharyngeal arch artery failure to develop or absence of the third pharyngeal arch artery MP:0030336 third pharyngeal arch artery hypoplasia decrease in the number of normal cells in normal arrangement in the third pharyngeal arch artery, typically resulting in decreased size MP:0030337 enlarged third pharyngeal arch artery increased size of the third pharyngeal arch artery MP:0030338 dilated third pharyngeal arch artery stretched or widened aperture of the luminal space of the third pharyngeal arch artery MP:0030339 absent second pharyngeal arch artery failure to develop or absence of the second pharyngeal arch artery MP:0030340 absent fourth pharyngeal arch artery failure to develop or absence of the fourth pharyngeal arch artery MP:0030341 fourth pharyngeal arch artery hypoplasia decrease in the number of normal cells in normal arrangement in the fourth pharyngeal arch artery, typically resulting in decreased size MP:0030342 small maxillary prominence reduced size of the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw MP:0030343 maxillary prominence hypoplasia decrease in the number of normal cells in normal arrangement in the maxillary prominence, typically resulting in decreased size MP:0030344 absent maxillary prominence absence of the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw MP:0030345 enlarged maxillary prominence increased size of the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw MP:0030346 small mandibular prominence reduced size of the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip MP:0030347 mandibular prominence hypoplasia decrease in the number of normal cells in normal arrangement in the mandibular prominence, typically resulting in decreased size MP:0030348 enlarged mandibular prominence increased size of the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip MP:0030349 absent coronal suture failure to form the dense, fibrous connective tissue joint between the parietal bones and the frontal bone MP:0030350 premature coronal suture closure early closure of the coronal suture of the skull MP:0030351 wide coronal suture an abnormally increased width of the coronal suture for age-related norms MP:0030352 absent sagittal suture failure to form the dense, fibrous connective tissue joint between the two parietal bones of the skull MP:0030353 wide sagittal suture an abnormally increased width of the sagittal suture for age-related norms MP:0030354 premature sagittal suture closure early closure of the sagittal suture of the skull; premature closure of this suture results in a long, narrow, and boat-shaped skull (scaphocephaly) MP:0030355 absent lambdoid suture failure to form the dense, fibrous connective tissue joint between the superior border of the occipital bone and the posterior borders of the right and left parietal bones MP:0030356 premature lambdoid suture closure early closure of the lambdoid suture of the skull MP:0030357 wide lambdoid suture an abnormally increased width of the lambdoid suture for age-related norms MP:0030358 premature squamoparietal suture closure early closure of the squamoparietal suture of the skull MP:0030359 cranial suture sclerosis an increased density in one or more cranial sutures following obliteration MP:0030360 coronal suture sclerosis an increased density in the coronal suture following obliteration MP:0030361 lambdoid suture sclerosis an increased density in the lambdoid suture following obliteration MP:0030362 sagittal suture sclerosis an increased density in the sagittal suture following obliteration MP:0030363 abnormal anterior fontanelle morphology any structural anomaly of the diamond-shaped membranous interval between the two frontal and two parietal bones of the developing fetal skull; it is the largest fontanelle, located at the bregma, at the junction of the coronal, sagittal and metopic (frontal) sutures of the cranium MP:0030364 abnormal posterior fontanelle morphology any structural anomaly of the triangle-shaped membranous interval between the pair of parietal bones and the occipital bone; it is located at the lambda, at the junction between the sagittal suture and the lambdoid suture MP:0030365 abnormal sphenoid fontanelle morphology any structural anomaly of the small membranous interval located on the side of the skull, at the site of apposition of the frontal, parietal, and squamous part of the temporal bone and sphenoid bone MP:0030366 abnormal mastoid fontanelle morphology any structural anomaly of the small membranous interval between the posterolateral angle of the parietal bone and the mastoid regions of the temporal and occipital bones in the developing skull MP:0030367 premature metopic suture closure early closure of the metopic suture of the skull; premature closure of this suture compromises the transverse growth of both the frontal bones and can cause a narrow, triangular shaped forehead (trigonocephaly) that is associated with orbital hypotelorism MP:0030368 trigonocephaly presence of a wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput; trigonocephaly can be caused by premature fusion of the metopic suture MP:0030369 abnormal jugum limitans morphology any structural anomaly of the bony ridge that, in rodents, runs paracoronally and divides the metopic (interfrontal) suture transversely into the anterior and posterior frontal sutures; it is a landmark between the posterior and anterior frontal sutures MP:0030370 absent jugum limitans missing the bony ridge that, in rodents, runs paracoronally and divides the metopic (interfrontal) suture transversely into the anterior and posterior frontal sutures MP:0030371 delayed sagittal suture closure late onset of fusion of the sagittal suture of the skull MP:0030372 enlarged Meckel's cartilage increased size of the cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible and gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments MP:0030373 Meckel's cartilage hyperplasia increase in the number of normal cells in normal arrangement in the Meckel's cartilage, typically resulting in increased size MP:0030374 Meckel's cartilage hypoplasia decrease in the number of normal cells in normal arrangement in the Meckel's cartilage, typically resulting in decreased size MP:0030375 short zygomatic arch decreased length of the bony arch that, in vertebrates, extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone MP:0030376 thick zygomatic arch increased thickness of the bony arch that, in vertebrates, extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone MP:0030377 zygomatic arch hypoplasia decrease in the number of normal cells in normal arrangement in the zygomatic arch, typically resulting in decreased size MP:0030378 abnormal frontal bone nasal part morphology any structural anomaly of the smallest part of the frontal bone which is connected to the frontal processes of the maxilla and the nasal bones, forming the stem (root) of the nose MP:0030379 abnormal frontal bone squamous part morphology any structural anomaly of the vertical and largest, flat part of the frontal bone which forms the forehead and comprises the frontal sinuses; this part contains the supraorbital notch, the superciliary arches, the glabella, and the zygomatic processes which arise caudolaterally from the squamous part and articulate with the zygomatic bone MP:0030380 abnormal frontal bone zygomatic process morphology any structural anomaly of the inferior extension of the squamous part of the frontal bone that joins with the frontal process of the zygomatic bone MP:0030381 abnormal frontal bone orbital part morphology any structural anomaly of the horizontal part of the frontal bone composed of two thin triangular plates, the orbital plates, which form the vaults of the orbits and the ethmoidal sinuses, and are separated from one another by a median gap, the ethmoidal notch; this part also comprises the anterior and posterior ethmoidal foramina MP:0030382 absent paranasal sinus missing one or more of the paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity MP:0030383 small presphenoid bone reduced size of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult MP:0030384 short facial bone length reduction or truncation of one or more facial bones MP:0030385 absent facial bone failure to develop or absence of one or more facial bones MP:0030386 facial bone hypoplasia decrease in the number of normal cells in normal arrangement in a facial bone, typically resulting in decreased size MP:0030387 large posterior fontanelle an abnormally increased size of the triangle-shaped membranous interval between the pair of parietal bones and the occipital bone for age-related norms; the posterior fontanelle is located at the lambda, at the junction between the sagittal suture and the lambdoid suture MP:0030388 large fontanelles an abnormally increased size of one or more fontanelles for age-related norms, generally resulting from delayed or incomplete fontanelle closure MP:0030389 small fontanelles an abnormally decreased size of one or more fontanelles for age-related norms MP:0030390 premature facial suture closure early closure of one or more of the joints (sutures) between facial bones MP:0030391 premature zygomaticomaxillary suture closure early closure of the suture between the zygomatic process of the maxilla and the maxillary margin of the zygomatic bone MP:0030392 premature fontanelle closure early closure of one or more of the membranous intervals at the margins of cranial bones; premature fontanelle closure can result from microcephaly, premature closure of the cranial sutures, or hyperthyroidism MP:0030393 delayed fontanelle closure late onset of closure of one or more of the membranous intervals at the margins of cranial bones MP:0030394 abnormal incus short process morphology any structural anomaly of the short limb (crus) of the incus that fits into a depression (fossa incudis) in the epitympanic recess; it is attached to the cavity wall by the posterior incudal ligament MP:0030395 absent incus short process missing the short limb (crus) of the incus that, normally, fits into a depression (fossa incudis) in the epitympanic recess MP:0030396 abnormal incus long process morphology any structural anomaly of the long limb (crus) of the incus; at the tip of the long crus there is a small knob, the lenticular process, that articulates with the head of the stapes MP:0030397 abnormal incus lenticular process morphology any structural anomaly of the ovoid end of the incus that articulates with the head of the stapes; it is attached to the long process by a thin strut or pedicle MP:0030398 absent incus lenticular process missing the ovoid end of the incus that articulates with the head of the stapes; normally, it is attached to the long process by a thin strut or pedicle MP:0030399 abnormal incus body morphology any structural anomaly of the flat, main part of the incus that articulates with the head of the malleus; two spines, the short and long processes, arise from the lower posterior part of the body and diverge from each other in a right angle MP:0030400 abnormal stapes annular ligament morphology any structural anomaly of the ring of fibrous tissue that connects the base of the stapes to the oval window (aka fenestra vestibuli) of the inner ear MP:0030401 absent stapes annular ligament missing the ring of fibrous tissue that connects the base of the stapes to the oval window (aka fenestra vestibuli) of the inner ear MP:0030402 abnormal stapes head morphology any structural anomaly of the concave portion of the stapes, located on top of the neck, which articulates with the lenticular process of the long limb of the incus through the incudostapedial joint MP:0030403 absent stapes head missing the concave portion of the stapes, located on top of the neck, which articulates with the lenticular process of the long limb of the incus through the incudostapedial joint MP:0030404 abnormal stapes obturator foramen morphology any structural anomaly of the central foramen (hole) located between the crura and the footplate of the stapes through which the stapedial artery passes MP:0030405 small stapes obturator foramen reduced size of the central foramen (hole) located between the crura and the footplate of the stapes through which the stapedial artery passes MP:0030406 absent stapes obturator foramen missing the central foramen (hole) located between the crura and the footplate of the stapes through which the stapedial artery passes MP:0030407 abnormal stapes crus morpholgy any structural anomaly of either of the two (anterior and posterior) limbs of the stapes that pass from the head to the base or footplate; in mice, the anterior crus is curved and the posterior crus is more straight whereas in humans, the anterior crus is more straight than the posterior crus MP:0030408 abnormal stapes posterior crus morphology any structural anomaly of the generally longer arching stem of the stapes that projects medially from the neck, forming the posterior border of the bone, and joins the flat, disc-like base MP:0030409 abnormal stapes anterior crus morphology any structural anomaly of the generally shorter stem of the stapes that projects medially from the neck, forming the anterior border of the bone, and joins the flat, disc-like base MP:0030410 middle ear effusion fluid accumulation in the middle ear cavity due to dysfunction of the Eustachian tube MP:0030411 decreased round window size less than average size of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; it serves to regulate fluid pressure in the inner ear MP:0030412 absent round window absence of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; it serves to regulate fluid pressure in the inner ear MP:0030413 tympanic membrane retraction a condition in which a segment of the tympanic membrane (eardrum) collapses inwards towards the middle ear space and lies more medially (deeper) than its normal position; the retracted segment is often known as a retraction pocket MP:0030414 tympanic membrane perforation presence of a hole or tear in the tympanic membrane (eardrum) MP:0030415 premature intermaxillary suture closure early closure of the anterior median suture between the two maxillae of the upper jawbone, located between the inferior border of the nasal aperture and the central incisor teeth MP:0030416 absent temporal bone zygomatic process missing the long, arched process that projects from the lower region of the squamous part of the temporal bone and articulates with the zygomatic bone MP:0030417 craniofacial hyperostosis excessive growth of the craniofacial bones MP:0030418 facial hyperostosis excessive growth of the facial bones MP:0030419 excessive cerumen excess buildup of cerumen, a yellowish waxy substance (earwax), in the external auditory canal MP:0030420 short basicranium decreased length of the anterior and/or posterior portions of the skull base MP:0030421 tongue muscle hypoplasia decrease in the number of normal cells in normal arrangement in the tongue muscle, typically resulting in decreased size MP:0030422 abnormal outer ear cartilage morphology any structural anomaly of the elastic cartilage components of the auricles and/or external acoustic meatus MP:0030423 abnormal pinna cartilage morphology any structural anomaly of the elastic cartilage component of the auricles MP:0030424 premature palatomaxillary suture closure early closure of the transverse suture across the back of the hard palate that separates the maxillary shelf of the palate from the horizontal plates of the palatine bones MP:0030425 wide intermaxillary suture an abnormally increased width of the anterior median suture between the two maxillae of the upper jawbone for age-related norms MP:0030426 facial muscle hypoplasia decrease in the number of normal cells in normal arrangement in the facial muscle, typically resulting in decreased size MP:0030427 abnormal neck muscle morphology any structural anomaly of any skeletal muscle that is part of the cervical (neck) region MP:0030428 abnormal scalene muscle morphology any structural anomaly of any of the three pairs of muscles in the lateral neck, namely the scalenus anterior, scalenus medius, and scalenus posterior; the scalenes are innervated by the cervical spinal nerves C4-C8, act as accessory muscles of respiration, and perform flexion at the neck MP:0030429 abnormal levator nasolabialis muscle morphology any structural anomaly of the flat, thin muscle lying beneath the skin on the lateral surface of the maxillary bone; it arises from the maxillary bone, over the dorsum of the nose, and runs cranioventrally to insert partly on the wing of the nostril and partly into the lateral part of the upper lip; it acts to dilate the nostrils and elevate and retract the upper lip MP:0030430 absent levator nasolabialis muscle missing the flat, thin muscle that lies beneath the skin on the lateral surface of the maxillary bone; it arises from the maxillary bone, over the dorsum of the nose, and runs cranioventrally to insert partly on the wing of the nostril and partly into the lateral part of the upper lip; it acts to dilate the nostrils and elevate and retract the upper lip MP:0030431 wide metopic suture an abnormally increased width of the metopic suture for age-related norms MP:0030432 large cranial foramen ovale increased size of the oval-shaped opening in the middle cranial fossa located at the posterior base of the greater wing of the sphenoid bone, lateral to the lingula of the mandible MP:0030433 large foramen rotundum increased size of the circular hole (foramen) in the sphenoid bone that connects the middle cranial fossa and the pterygopalatine fossa MP:0030434 premature maxillary-premaxillary suture closure early closure of the maxillary-premaxillary suture, the line of union of the two portions of the maxilla (pre- and postmaxilla) MP:0030435 premature craniofacial suture closure early closure of any joint (suture) between cranial and/or facial bones MP:0030436 premature frontonasal suture closure early closure of the joint (suture) between the frontal bone and the two nasal bones MP:0030437 abnormal osteoblast proliferation anomaly in the ability of osteoblasts to undergo expansion by cell division; osteoblasts are skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell MP:0030438 increased osteoblast proliferation increase in the expansion rate of osteoblasts by cell division; osteoblasts are skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell MP:0030439 decreased osteoblast proliferation reduction in the expansion rate of osteoblasts by cell division; osteoblasts are skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell MP:0030440 abnormal osteoblast apoptosis change in the timing or the number of osteoblasts undergoing programmed cell death; osteoblasts are skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell MP:0030441 increased osteoblast apoptosis increase in the number of osteoblasts undergoing programmed cell death MP:0030442 decreased osteoblast apoptosis reduction in the number of osteoblasts undergoing programmed cell death MP:0030443 abnormal cranial synchondrosis any anomaly in the development of cartilaginous joints or growth centers between bones of the skull base by the formation of hyaline cartilage which is abundant during the growth phase and ultimately ossifies during skeletal maturation; synchondroses are composed of mirror-image growth plates with a central resting zone, proliferative zones, and hypertrophic zones on both sides; in mouse, there are two synchondroses in the midline cranial base, the sphenooccipital and presphenoidal synchondroses MP:0030444 premature cranial synchondrosis closure early fusion or ossification of one or more cranial base synchondroses relative to age- and gender-matched controls; can lead to midface hypoplasia, as seen in patients with specific forms of syndromic craniosynostosis MP:0030445 abnormal sphenooccipital synchondrosis any anomaly in the development of the cartilaginous joint (growth center) between the basioccipital and basisphenoid bones that is an important driver of facial and cranial base growth; sphenooccipital synchondroses are among the last to fuse and may remain patent until early adulthood MP:0030446 premature sphenooccipital synchondrosis closure early closure or ossification of the sphenooccipital synchondrosis relative to age- and gender-matched controls; premature fusion has been associated with midface hypoplasia in animal models and patients with specific forms of syndromic craniosynostosis MP:0030447 abnormal presphenoid synchondrosis any anomaly in the development of the cartilaginous joint (growth center) between the presphenoid and basisphenoid bones of the skull base MP:0030448 premature presphenoid synchondrosis closure early closure or ossification of the presphenoid synchondrosis relative to age- and gender-matched controls MP:0030449 tooth ankylosis solid fixation of a tooth resulting from fusion of the dental cementum and alveolar bone, with obliteration of the periodontal ligament MP:0030450 abnormal enamel mineralization anomaly in the process by which calcium salts, mainly carbonated hydroxyapatite, are deposited into the dental enamel MP:0030451 abnormal dentin mineralization anomaly in the process by which calcium salts are deposited into dentin MP:0030452 abnormal cementum mineralization anomaly in the process by which calcium salts, mainly carbonated hydroxyapatite, are deposited into the initial acellular cementum MP:0030453 abnormal odontoblast morphology any structural anomaly of the skeletogenic cell on the outer surface of the dental pulp that secretes dentin matrix, is derived from the odontogenic papilla, and develops from a preodontoblast cell MP:0030454 abnormal odontoblast number deviation from the normal number of skeletogenic cells on the outer surface of the dental pulp that secrete dentin matrix, are derived from the odontogenic papilla, and develop from preodontoblast cells MP:0030455 increased odontoblast number greater than normal number of the skeletogenic cells on the outer surface of the dental pulp that secrete dentin matrix, are derived from the odontogenic papilla, and develop from preodontoblast cells MP:0030456 abnormal odontoblast differentiation anomaly in the process by which a relatively unspecialized cell of neural crest origin acquires the specialized features of an odontoblast, a skeletogenic cell on the outer surface of the dental pulp that secretes dentin matrix, is derived from the odontogenic papilla, and develops from a preodontoblast cell MP:0030457 abnormal molar cusp morphology any structural anomaly of an elevation or mound on the crown of a molar tooth making up a part of the occlusal (masticatory) surface MP:0030458 abnormal tooth wear change in the progression or severity of loss of tooth substance, usually resulting from abrasion, attrition and erosion acting singly or concurrently; tooth wear is a normal, age-dependent physiological process that leads to surface loss of dental hard tissues MP:0030459 abnormal tooth attrition change in the physiologic wearing away of tooth structure as a result of abnormal tooth-to-tooth contact, as in mastication, occurring only on the occlusal, incisal, and proximal surfaces MP:0030460 enamel pits presence of small depressions in the dental enamel MP:0030461 abnormal sphenosquamosal suture morphology any structural anomaly of the vertical cranial suture located between the sphenoid and temporal bones bilaterally; it is formed by the articulation between the posterior border of the greater wing of the sphenoid bone and the anterior border of the squamous part of the temporal bone MP:0030462 tooth abscess a pocket of pus localized within a region of a tooth, usually caused by a bacterial infection MP:0030463 apical tooth abscess a tooth abscess that occurs at or around the tip of the root (apex) of a tooth; may result from pulp infection due to carious lesion or pulp necrosis resulting from injury MP:0030464 abnormal cranial cartilage morphology any structural anomaly of any cartilage element that is part of the cranial skeleton MP:0030465 absent oval window missing the oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes MP:0030466 alveolar process atrophy acquired diminution of the size of the alveolar process associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0030467 abnormal cranial cartilage development anomaly in the formation of any cartilage element that is part of the cranial skeleton MP:0030468 abnormal carotid canal morphology any structural anomaly of the passageway within the petrous temporal bone that transmits the internal carotid artery and sympathetic plexus; its inferior opening is the carotid foramen situated anteriorly to the jugular fossa and medially to the tympanic plate; the carotid canal is initially directed superiorly, then turns anteromedially to reach up to the petrous apex, runs within the petrous bone, and opens into the middle cranial fossa superior to the foramen lacerum MP:0030469 optic canal stenosis abnormal narrowing or constriction of the short canal through the orbitosphenoid bone at the apex of the orbit that gives passage to the optic nerve and the ophthalmic artery MP:0030470 abnormal jugular foramen morphology any structural anomaly of the large irregular opening from the posterior cranial fossa that is bounded anteriorly by the petrous part of the temporal bone and posteriorly by the jugular notch of the occipital bone; it transmits the inferior petrosal sinus, the glossopharyngeal, vagus, and accessory nerves, and the internal jugular vein MP:0030471 abnormal ameloblast differentiation any anomaly in the process in which a relatively unspecialized cell acquires specialized features of a functional ameloblast, a tall, columnar, polarized epithelial cell in the innermost layer of the enamel organ of a developing tooth involved with the formation of enamel matrix MP:0030472 fused teeth union of two separately developing tooth germs typically leading to one less tooth than normal in the affected arch MP:0030473 fused molars union of two adjacent molar teeth in the maxilla and/or mandible MP:0030474 fused incisors union of two adjacent incisor teeth in the maxilla and/or mandible MP:0030475 fused lower incisors union of two adjacent incisor teeth in the mandible MP:0030476 fused upper incisors union of two adjacent incisor teeth in the maxilla MP:0030477 abnormal osteocyte physiology any functional anomaly of a mature osteoblast that has become embedded in the bone matrix (osteoid) in a small cavity called lacuna and that extends cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi MP:0030478 abnormal osteocyte apoptosis change in the timing or the number of osteocytes undergoing programmed cell death; an osteocyte is a mature osteoblast that has become embedded in the bone matrix (osteoid) in a small cavity called lacuna and that extends cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi MP:0030479 increased osteocyte apoptosis increase in the number of osteocytes undergoing programmed cell death MP:0030480 decreased osteocyte apoptosis reduction in the number of osteocytes undergoing programmed cell death MP:0030481 abnormal osteocyte number deviation from the average number of mature osteoblasts that have become embedded in the bone matrix (osteoid) in small cavities called lacunae and that extend cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi MP:0030482 increased osteocyte number greater than average number of mature osteoblasts that have become embedded in the bone matrix (osteoid) in small cavities called lacunae and that extend cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi MP:0030483 decreased osteocyte number reduction in the number of mature osteoblasts that have become embedded in the bone matrix (osteoid) in small cavities called lacunae and that extend cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi MP:0030484 abnormal osteocyte lacuna morphology any structural anomaly of the small cavity within the bone matrix that is occupied by an osteocyte cell body, and from which slender canaliculi radiate and penetrate the adjacent lamellae to anastomose with the canaliculi of neighboring lacunae, thus forming a system of cavities interconnected by minute canals MP:0030485 abnormal osteocyte lacunocanalicular system morphology any structural anomaly of the large network intercommunicating the lacunae and canaliculi which contain the osteocytes and their cytoplasmic processes within the mineralized bone matrix MP:0030486 abnormal osteocyte canaliculus morphology any structural anomaly of the slender canals situated between the lacunae of ossified bone where osteocyte cytoplasmic (dendritic) processes reside; osteocyte canaliculi are used for exchange of nutrients and waste products through gap junctions MP:0030487 abnormal osteocyte dendritic process morphology any structural anomaly of the long, slender cytoplasmic processes by which mature osteocytes communicate with one another, receive mechanosensory signals and participate in the regulation of bone turnover; these processes radiate from the osteocyte cell body, run along narrow canaliculi, and are linked to other neighboring osteocytes processes by gap junctions, as well as to cytoplasmic processes of osteoblasts and bone lining cells on the bone surface MP:0030488 abnormal tooth socket morphology any structural anomaly of any of the cavities or sockets in the alveolar process of the mandible or maxilla, in which the roots of the teeth are held by fibers of the periodontal ligament MP:0030489 abnormal molar socket morphology any structural anomaly of any of the cavities or sockets in the alveolar process of the mandible or maxilla, in which the roots of molar teeth are held by fibers of the periodontal ligament MP:0030490 periodontal pocket a pathologic deepening of the gingival sulcus as a result of apical migration of the junctional epithelium and the destruction of alveolar bone and periodontal ligament fiber bundles MP:0030491 dental pulp stones nodular, calcified masses appearing in either or both the coronal and root portion of the pulp organ in teeth MP:0030492 abnormal dentoalveolar joint morphology any structural anomaly of the specialized peg-in-socket fibrous joint between the root of a tooth and the socket in the maxilla or mandible; this type of joint permits very limited or no movement under normal conditions and is functionally classified as a synarthrosis MP:0030493 abnormal tooth root morphology any structural anomaly of the part of a tooth that is implanted in the gum; the root is located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone MP:0030494 abnormal molar root morphology any structural anomaly of the part of a molar tooth that is implanted in the gum MP:0030495 absent tooth root absence of or failure to develop the part of a tooth that is implanted in the gum; normally, the root is located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone MP:0030496 taurodontia a developmental anomaly involving molar teeth, whereby the body of the tooth and pulp chamber is enlarged vertically at the expense of the roots and the root canal length; characteristic features include an enlarged pulp chamber, absence of the usual constriction at the cemento-enamel junction, and apical shift of the pulp chamber floor and furcation area down the root MP:0030497 short tooth root decreased length of the part of a tooth that is implanted in the gum; the root is located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone MP:0030498 abnormal dental lamina morphology any structural anomaly of the U-shaped stripe of thickened oral epithelium marking the future tooth row; the primary dental lamina is the earliest morphological structure of the tooth formed in the embryo; local thickenings of the dental lamina from which individual teeth are initiated are known as tooth placodes MP:0030499 conical tooth a peg-shaped (coniform) tooth whose sides converge or taper together incisally MP:0030500 conical molar a molar tooth whose sides converge or taper together incisally forming a peg-shaped (coniform) crown MP:0030501 abnormal incisive canal morphology any structural anomaly of any of several bony canals leading from the floor of the nasal cavity into the incisive fossa on the palatal surface of the maxilla; they convey the nasopalatine nerves and branches of the greater palatine arteries that anastomose with the septal branch of the sphenopalatine artery MP:0030502 abnormal incisive foramen morphology any structural anomaly of any oral opening of the nasopalatine (incisive) canal; it is located in the maxilla in the incisive fossa, midline in the palate posterior to the central incisors, at the junction of the medial palatine and incisive sutures; it can be single or multiple; it transmits the greater palatine artery and vein from the oral to the nasal cavity and the nasopalatine nerve in the opposite direction MP:0030503 abnormal tooth neck morphology any structural anomaly of the slightly constricted part of a tooth between the crown and the root MP:0030504 abnormal cementoenamel junction morphology any anomaly of the interface between the cementum and enamel at the cervical region (neck) of a tooth; it represents the anatomic limit or line of division between the crown and root surface MP:0030505 tooth impaction cessation of eruption of a tooth caused by a clinically or radiographically detectable physical barrier in the eruption path or by an ectopic position of the tooth; an impacted tooth is one that is unable to fully erupt in its proper location because it is blocked by tissue, bone or another tooth MP:0030506 abnormal dental follicle morphology any structural anomaly of the loose ectomesenchyme-derived connective tissue sac that surrounds the enamel organ and the dental papilla of the developing tooth germ before eruption; it is believed that this tissue contains stem cells and lineage-committed progenitor cells or precursor cells for cementoblasts, periodontal ligament (PDL) cells and osteoblasts; dental follicle cells form the PDL by differentiating into PDL fibroblasts that secrete collagen and interact with fibers on the surface of adjacent bone and cementum MP:0030507 abnormal dental papilla morphology any structural anomaly of the condensation of ectomesenchymal cells called odontoblasts seen in histologic sections of a developing tooth; the dental papilla lies below a cellular aggregation known as the enamel organ and differentiates into the dentin and dental pulp MP:0030508 abnormal dental epithelium morphology any structural anomaly of the epithelium that is part of a developing tooth or dental (enamel) organ MP:0030509 increased number of epithelial cell rests of Malassez increased number of epithelial cell remnants derived from the fragmentation of Hertwig's epithelial root sheath during root development that persist in the periodontal ligament close to the cementum surface MP:0030510 abnormal tooth placode morphology any structural anomaly of the local thickening that is formed within the primary dental lamina and grows into a solid epithelial tooth bud that invades the underlying mesenchyme; the placodes consist of thickened epithelium and underlying neural crest derived mesenchyme, and they function as the first signaling centers of the tooth MP:0030511 abnormal dentinoenamel junction morphology any structural anomaly of the interface that joins two distinct calcified tissues, enamel and dentin; it presents a scalloped contour, with its concave side toward the enamel and the convex side toward the dentin, thought to increase adherence of the enamel to the dentin, especially in areas of occlusal stress; DEJ plays a key role in resisting crack propagation from enamel to dentin MP:0030512 abnormal Tomes' process morphology any structural anomaly of the pyramidal extension at the apical pole of a secretory ameloblast that plays an important role in organizing the enamel crystals into a complex network of rod (prism) and interrod enamel; Tomes' processes interdigitate with the surface of the forming enamel giving it a picket fence appearance and determine the orientation of the newly formed (nucleated) enamel hydroxyapatite crystals; as the secretory stage ends, Tomes' processes are lost and accordingly the last formed layers of enamel are rodless or prismless MP:0030513 short Tomes' process decreased length of the pyramidal extension at the apical pole of a secretory ameloblast that plays an important role in organizing the enamel crystals into a complex network of rod (prism) and interrod enamel MP:0030514 absent Tomes' process failure to form the pyramidal extension at the apical pole of a secretory ameloblast that plays an important role in organizing the enamel crystals into a complex network of rod (prism) and interrod enamel MP:0030515 periodontal ligament necrosis morphological changes resulting from pathological death of periodontal ligament tissue; usually due to irreversible damage MP:0030516 abnormal junctional epithelium morphology any structural anomaly of the collar-like band of non-keratinized squamous epithelium that attaches the gingival soft tissue to the tooth surface; the term epithelial attachment refers to the attachment apparatus, i.e. the internal basal lamina and hemidesmosomes, that connects the junctional epithelium (JE) to the tooth surface; in the initiation of periodontitis, JE detaches from the tooth surface and converts gradually, by sprouting laterally and migrating apically, to pathological pocket epithelium MP:0030517 detached junctional epithelium partial or complete detachment of the junctional epithelium from the tooth surface, typically leading to periodontal pocket formation MP:0030518 abnormal outer dental epithelium morphology any structural anomaly of the layer of cuboidal cells located on the periphery of the enamel organ in a developing tooth; this layer is first seen during the bell stage MP:0030519 abnormal inner dental epithelium morphology any structural anomaly of the inner layer of columnar cells of the enamel organ, located on the rim nearest the dental papilla; this layer is first seen during the cap stage of tooth development, in which inner enamel epithelium cells are pre-ameloblast cells; these will differentiate into ameloblasts which are responsible for secretion of enamel during tooth development MP:0030520 oral mucosa blisters localized pockets of fluid that form within or beneath the oral mucosa; may appear as pustules, vesicles, or bullae; color varies according to content of blister, which may include blood, serum, mucin, or suppuration MP:0030521 abnormal cervical loop morphology any structural anomaly of the most cervical part of an enamel organ where the inner enamel epithelium and the outer enamel epithelium merge in a loop, thus delineating the end of the anatomic crown and the site where root formation begins; to form the root region, the cervical loop begins to grow deeper into the surrounding ectomesenchyme of the dental sac, elongating and moving away from the newly completed crown area to enclose more of the dental papilla, forming Hertwig's epithelial root sheath (HERS) MP:0030522 abnormal stellate reticulum morphology any structural anomaly of the network of star-shaped cells found in the core of the dental (enamel) organ between the stratum intermedium and outer enamel epithelium which secrete hydrophilic glycosaminoglycans into the extracellular compartment; the stellate reticulum is most fully developed at the bell stage when intercellular spaces become fluid-filled, presumably related to osmotic effects arising from the high concentration of glycosaminoglycans; the main function of the stellate reticulum is mechanical, protecting the underlying dental tissues against physical disturbance and maintaining tooth shape MP:0030523 abnormal stratum intermedium morphology any structural anomaly of the layer of two or three flattened cells located between the inner enamel epithelium and the newly forming cells of the stellate reticulum; it first appears during the early bell stage of tooth development, has a notably high alkaline phosphatase activity, and forms a part of the dental (enamel) organ; this layer, along with the inner enamel epithelium, is responsible for the tooth enamel formation MP:0030524 abnormal tooth root resorption pathologic resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms MP:0030525 abnormal Hertwig epithelial root sheath morphology any structural anomaly of the bilayered epithelial sheath formed from the fusion of the inner and outer enamel epithelia below the level of the cervical margin of the crown; in mammals, HERS is a transient structure and fragments to form the epithelial cell rests of Malassez; HERS cells appear to be involved in the initiation of the root formation process, in root elongation, and in stimulating both cementogenesis and root dentinogenesis MP:0030526 abnormal enamel cord morphology any structural anomaly of the transient structure of the dental (enamel) organ present at the early cap stage of molar tooth development; the enamel cord is a strand of epithelial cells that runs from (links) the enamel knot to the outer dental epithelial cells, dividing the dental organ into two parts MP:0030527 absent enamel cord missing the transient structure of the dental (enamel) organ that is normally present at the early cap stage of molar tooth development; the enamel cord is a strand of epithelial cells that runs from (links) the enamel knot to the outer dental epithelial cells, dividing the dental organ into two parts MP:0030528 abnormal neck skin morphology any structural anomaly of a zone of skin that is part of the cervical (neck) region MP:0030529 abnormal head skin morphology any anomaly in a zone of skin that is part of the head MP:0030530 abnormal outer ear skin morphology any anomaly in a zone of skin that is part of an outer ear MP:0030531 abnormal facial skin morphology any anomaly in a zone of skin that is part of the face MP:0030532 abnormal periorbital skin morphology any anomaly in a zone of skin that is part of the periorbital region of the face MP:0030533 abnormal snout skin morphology any anomaly in a zone of skin that is part of the snout MP:0030534 abnormal forehead skin morphology any anomaly in a zone of skin that is part of the forehead MP:0030535 abnormal hypoglossal cord morphology any structural anomaly of the condensed mesenchymal band formed as migratory myoblasts arising from the myotomes of the occipital somites coalesce beside somite four and extend ventrally as an elongated column; the hypoglossal cord eventually becomes located ventral to the caudal region of the pharynx; most of the myoblasts of the hypoglossal cord remain ventral and shift cranially to form the intrinsic and extrinsic tongue muscles; some of these myoblasts shift dorsally to form the intrinsic laryngeal muscles MP:0030536 abnormal diastema morphology any anomaly of the space or gap between two adjacent teeth in the same dental arch; in rodents, the diastema is the toothless (edentulous) region that normally separates a continuously growing single incisor from a segment of three molars in each quadrant of the adult jaw; although tooth primordia develop in the rodent embryonic diastema, they undergo apoptosis and regress to ensure that this region remains tooth-free MP:0030537 abnormal notochordal process morphology any structural anomaly of the midline cellular cord formed from the migration of mesenchymal cells from the primitive knot; the notochordal process is a mesodermal hollow tube structure that grows cranially between the ectoderm and the endoderm until it reaches the prechordal plate MP:0030538 abnormal notochordal plate morphology any structural anomaly of the dorsal part of the notochordal process when the ventral portion breaks down; it is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube; the folding off of the notochordal plate gives rise to the notochord MP:0030539 abnormal head paraxial mesoderm morphology any structural anomaly of the paraxial mesoderm located on either side of the neural tube, anterior to the occipital somites; in the head region, the unsegmented cranial paraxial mesoderm contributes to the developing heart, specific skull bones and skeletal muscles of the head and neck region MP:0030540 misaligned teeth abnormal alignment, positioning, or spacing of the teeth MP:0030541 misaligned incisors abnormal alignment of the upper and lower incisor teeth, usually resulting in malocclusion; in gnawing rodents, where incisors are rootless and grow continually, signs of incisor malocclusion include uneven wear patterns, sloping of the cutting edges, fractured teeth, altered pigmentation, and obvious pathological overgrowth of the incisors MP:0030542 abnormal dentin development any anomaly in the process whose specific outcome is the formation of dentin, the hard portion of the tooth surrounding the pulp, covered by enamel on the crown and cementum on the root; dentinogenesis begins prior to enamel formation and is initiated by the odontoblasts of the dental pulp; dentin is derived from the dental papilla of the tooth germ; after apposition of predentin and maturation into dentin, the cell bodies of the odontoblasts remain in the pulp inside the tooth, along its outer wall; unlike enamel, dentin continues to form throughout life and can be initiated in response to stimuli, such as tooth decay or attrition MP:0030543 abnormal predentin morphology any structural anomaly of the initial type I collagen-rich unmineralized extracellular matrix synthesized and secreted by odontoblasts and located at the dentin-pulp interface; predentin is converted to dentin when hydroxyapatite crystals are deposited on the predentin MP:0030544 abnormal enamel development any anomaly in the process whose specific outcome is the formation of dental enamel, the hard outer coating of the exposed portion of the tooth; amelogenesis occurs after the first establishment of dentin, via cells known as ameloblasts, and can generally be divided into two broad stages: (i) a secretory stage that involves proteins and an organic matrix forming a partially mineralized enamel and (ii) a maturation stage which completes enamel mineralization MP:0030545 abnormal acellular cementum morphology any structural anomaly of the acellular layer of cementum, a living tissue that does not incorporate cells (cementocytes) into its structure, consisting only of extracellular matrix components and mineral; acellular cementum is the first cementum deposited on the dentin of the forming root, and is predominantly found on the cervical/coronal portion of the tooth root; it anchors the primary collagen fibers of the periodontal ligament, providing a strong attachment between the tooth and surrounding alveolar bone MP:0030546 abnormal cellular cementum morphology any structural anomaly of the layer of cementum that contains cementocytes in lacunae; it is most abundant on the apical portion of the tooth root and in the furcation areas of multirooted teeth, and has a role in posteruptive adjustment of tooth position MP:0030547 abnormal cementum development any anomaly in the process whose specific outcome is the formation of dental cementum, a bone-like rigid connective tissue covering the root of a tooth MP:0030548 abnormal cementoid morphology any structural anomaly of the organic matrix secreted by cementoblasts, which forms the most recent unmineralized layer covering the surface of cellular cementum MP:0030549 abnormal cementocyte lacunocanalicular system morphology any structural anomaly of the osteocyte-like network of lacunae and canaliculi housing the cementocytes and their cytoplasmic processes within the cellular cementum; although cementocytes resemble osteocytes, they show profound differences in terms of dendrite number, lacunar shape, and canalicular network density, suggesting less communication between, to, and from cementocytes compared with osteocytes MP:0030550 abnormal cementoblast morphology any structural anomaly of the large cuboidal cells differentiated from fibroblasts of the dental follicle (or possibly from Hertwig's epithelial root sheath cells by epithelial-mesenchymal transformation) that, during formation of cellular cementum, secrete a layer of unmineralized extracellular matrix called cementoid; as cementoid deposition progresses, some cementoblasts become embedded in cementoid matrix and become cementocytes MP:0030551 abnormal cementoblast number deviation from the average number of the large cuboidal cells differentiated from fibroblasts of the dental follicle (or possibly from Hertwig's epithelial root sheath cells by epithelial-mesenchymal transformation) that, during formation of cellular cementum, secrete a layer of unmineralized extracellular matrix called cementoid; as cementoid deposition progresses, some cementoblasts become embedded in cementoid matrix and become cementocytes MP:0030552 decreased cementoblast number fewer than the expected number of the large cuboidal cells differentiated from fibroblasts of the dental follicle (or possibly from Hertwig s epithelial root sheath cells by epithelial-mesenchymal transformation) that, during formation of cellular cementum, secrete a layer of unmineralized extracellular matrix called cementoid; as cementoid deposition progresses, some cementoblasts become embedded in cementoid matrix and become cementocytes MP:0030553 increased cementoblast number greater than the expected number of the large cuboidal cells differentiated from fibroblasts of the dental follicle (or possibly from Hertwig s epithelial root sheath cells by epithelial-mesenchymal transformation) that, during formation of cellular cementum, secrete a layer of unmineralized extracellular matrix called cementoid; as cementoid deposition progresses, some cementoblasts become embedded in cementoid matrix and become cementocytes MP:0030554 abnormal cementocyte morphology any structural anomaly of an apparently terminally differentiated cementoblast that has become embedded in the cellular cementum in a small cavity called lacuna and that extends long cytoplasmic (dendritic) processes away from the cell body toward other cementocytes and neighboring cells in small channels called canaliculi MP:0030555 abnormal cementocyte lacuna morphology any structural anomaly of the small cavity within the cellular cementum that is occupied by a cementocyte cell body; cementocyte lacunae are described as larger and more irregular in size and shape (from oval to tubular) and with rougher walls than the typical ellipsoid osteocyte lacunae; occasionally, empty lacunae or lacunae containing more than one cell are observed in cellular cementum, not typically observed in osteocyte lacunae MP:0030556 abnormal cementocyte canaliculus morphology any structural anomaly of the slender canals situated between lacunae of the cellular cementum where cementocyte cytoplasmic (dendritic) processes reside; cementocyte canaliculi appear to be less organized, more sparse, and do they radiate outward, with the majority of them oriented toward the vascular periodontal ligament for nutrition, unlike osteocyte canaliculi which are radiating, more dense and arranged in a complex network MP:0030557 abnormal cementocyte dendritic process morphology any structural anomaly of the long, slender cytoplasmic processes that extend from the cementocyte cell body, run along narrow canaliculi, and are linked to neighboring cementocytes processes via gap junctions; cementocytes harbor fewer dendritic processes than osteocytes MP:0030558 absent nasopharynx failure to form the section of the pharynx that lies above the soft palate MP:0030559 abnormal dental pulp canal morphology any structural anomaly of the portion of the dental pulp cavity within the root of a tooth MP:0030560 enlarged dental pulp canal increased size of the portion of the dental pulp cavity within the root of a tooth MP:0030561 abnormal dental pulp chamber morphology any structural anomaly of the portion of the dental pulp cavity within the crown of a tooth MP:0030562 enlarged dental pulp chamber increased size of the portion of the dental pulp cavity within the crown of a tooth MP:0030563 detached periodontal ligament partial or complete loss of attachment of the periodontal ligament to the cementum covering the root of a tooth MP:0030564 thick myocardium compact layer increased thickness of the outer, dense layer of the myocardium MP:0030565 decreased circulating ammonia level reduced concentration of ammonia or its compounds in the blood MP:0030566 abnormal A band morphology any structural anomaly of the dark-staining region of a sarcomere that is situated between two I bands and marked by partial overlapping of thin (actin) and thick (myosin) filaments; an A band is anisotropic to polarized light and contains the entire length of a single thick filament; its center is traversed by the paler H zone, which in turn contains the M line MP:0030567 abnormal I band morphology any structural anomaly of the light band on each side of the Z disc (aka Z line), comprising a region of the sarcomere where thin (actin) filaments are not overlapped by thick (myosin) filaments; the I band is isotropic to polarized light and contains actin, troponin, and tropomyosin; each sarcomere includes half of an I band at each end MP:0030568 abnormal H zone morphology any structural anomaly of the relatively pale zone traversing the center of the A band of a sarcomere, visible in relaxed muscle fibers; it consists of the central portion of thick (myosin) filaments that are not overlapped by thin (actin) filaments; within the H zone is a thin dark M line, the attachment site for the thick filaments in the center of the sarcomere MP:0030569 glomerular capillary endotheliosis a renal lesion characterized by glomerular endothelial swelling with glomerular hypertrophy, obliteration of endothelial fenestrae, and narrowing or occlusion of the capillary lumens MP:0030570 abnormal piliary canal morphology any structural anomaly of the tubular connection that is found between the epidermal surface and the most distal part of the hair follicle inner root sheath and contains the hair shaft MP:0030571 dilated piliary canal stretched or widened aperture of the luminal space of the tubular connection that is found between the epidermal surface and the most distal part of the hair follicle inner root sheath and contains the hair shaft; the infundibulum is the opening of the hair canal to the skin surface MP:0030572 abnormal pilosebaceous unit morphology any structural anomaly of an epidermal invagination consisting of hair, hair follicle, arrector pili muscle and sebaceous gland MP:0030573 abnormal hair follicle cell proliferation anomaly in the ability of any hair follicle cell population to undergo expansion by cell division MP:0030574 increased hair follicle cell proliferation increase in the expansion rate of a hair follicle cell population by cell division MP:0030575 decreased hair follicle cell proliferation reduction in the expansion rate of a hair follicle cell population by cell division MP:0030576 abnormal keratinocyte adhesion any anomaly in the adhesive properties of keratinocytes, resulting in abnormal cell to cell and cell to extracellular matrix (ECM) interactions MP:0030577 increased keratinocyte adhesion increased ability of a keratinocyte to adhere to another cell or to a non-cellular component of the environment MP:0030578 decreased keratinocyte adhesion decreased ability of a keratinocyte to adhere to another cell or to a non-cellular component of the environment MP:0030579 thoracoabdominoschisis a congenital fissure of both the thoracic and abdominal walls MP:0030580 abnormal hair follicle placode morphology any structural anomaly of any of the local epithelial thickenings in the embryonic epidermis that define the location of the hair follicles; in mouse, embryonic hair follicle development is initiated by the first dermal signal, originating from dermal fibroblasts, leading to the formation of placodes at ~E13.5; each placode sends a message back to underlying dermis, which results in the formation of an aggregate of mesenchymal cells known as the dermal condensate; the placodes then grow downward, giving rise to the hair germ by E15.5, the hair peg by E17.5, and the bulbous hair peg by E18.5 MP:0030581 absent hair follicle placode absence of the local epithelial thickening in the embryonic epidermis that normally gives rise to the hair follicle bud (aka hair germ) MP:0030582 abnormal hair follicle placode formation any anomaly in the developmental process in which a hair placode forms; in mouse, hair placode formation is initiated at ~E13.5 in response to the first dermal signal originating from dermal fibroblasts; the resulting primary hair placode cells signal to the underlying dermis, triggering formation of dermal condensates that will coordinate further differentiation of hair-forming cells; hair placode formation progresses through 3 successive waves (1) primary hair placodes form at E14.5 and produce guard hair, (2) secondary hair placodes form at E16-17 and produce awl hair, and (3) the third wave of hair follicle induction produces tertiary placodes and generate zig-zag hair MP:0030583 abnormal hair follicle peg morphology any structural anomaly of the solid column of keratinocytes growing into the dermis during embryonic hair follicle development; the concave proximal end starts to encase the dermal condensate, the future dermal papilla MP:0030584 skin atrophy acquired diminution of skin tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0030585 enhanced behavioral response to amphetamine increased sensitivity to amphetamine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response MP:0030586 impaired behavioral response to amphetamine decreased sensitivity to amphetamine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response MP:0030587 abnormal pancreatic alpha cell mass anomaly in the total physical bulk or volume of a pancreatic alpha cell compared to the normal state MP:0030588 decreased pancreatic alpha cell mass reduced total physical bulk or volume of a pancreatic alpha cell compared to the normal state MP:0030589 increased pancreatic alpha cell mass greater total physical bulk or volume of a pancreatic alpha cell compared to the normal state MP:0030590 abnormal sperm fibrous sheath morphology any structural anomaly of the unique cytoskeletal component in the principal-piece segment of the sperm flagellum which surrounds the axoneme and outer dense fibers and contains two longitudinal columns that are connected by closely organized semicircular transverse ribs; the fibrous sheath is believed to regulate the degree of flexibility, flagellar motion and shape of the flagellar beat during the lifespan of a sperm cell MP:0030591 absent sperm fibrous sheath missing the unique cytoskeletal component of the principal-piece segment of the sperm flagellum which surrounds the axoneme and outer dense fibers and contains two longitudinal columns that are connected by closely organized semicircular transverse ribs MP:0030592 abnormal manganese homeostasis anomaly in the processes involved in the maintenance of an internal steady state of manganese ions within an organism or cell; manganese ions function as cofactors for a large variety of enzymes with many functions; while the element is a required trace mineral for all known living organisms, it also acts as a neurotoxin in larger amounts MP:0030593 abnormal manganese level any anomaly in the concentration of manganese in the body MP:0030594 abnormal brain manganese level any anomaly in the amount of manganese present in brain tissue MP:0030595 increased brain manganese level a greater accumulation of manganese in brain tissue compared to controls MP:0030596 decreased brain manganese level a reduced amount of manganese in brain tissue compared to controls MP:0030597 abnormal liver manganese level any anomaly in the amount of manganese present in liver tissue MP:0030598 increased liver manganese level a greater accumulation of manganese in liver tissue compared to controls MP:0030599 decreased liver manganese level a reduced amount of manganese in liver tissue compared to controls MP:0030600 abnormal circulating manganese level any anomaly in the blood concentration of manganese MP:0030601 increased circulating manganese level greater than normal concentration of manganese in the blood MP:0030602 decreased circulating manganese level less than the normal concentration of manganese in the blood MP:0030603 increased sperm number increased concentration of spermatozoa in the seminal fluid MP:0030604 abnormal ammonia homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of ammonia in the fluids and tissues MP:0030605 abnormal corneocyte morphology any structural anomaly of the de-nucleated, dead keratin-filled squamous cell of the stratum corneum; a corneocyte is the last stage of development of a keratinocyte where the keratinocyte flattens, loses its nucleus and eventually delaminates from the epidermis MP:0030606 abnormal gingival sulcus moprhology any anomaly in the area of potential space between a tooth and the surrounding gingival tissue that is lined by sulcular epithelium; the depth of the sulcus is bounded by two entities: apically by the gingival fibers of the connective tissue attachment and coronally by the free gingival margin MP:0030607 abnormal sex cord morphology any structural anomaly of the cord-like masses of epithelial tissue that invaginate from the germinal epithelium of the gonad and give rise to seminiferous tubules and rete testes in the male, and primary ovarian follicles and rete ovarii in the female MP:0030608 decreased tooth number reduction in the number of the bony structures of the upper and lower jaws used in mastication MP:0030609 decreased incisor number reduction in the number of the long teeth, normally consisting of two pairs, top and bottom, that are the most anterior and prominent in the jaw MP:0030610 absent teeth absence of all of the bony structures of the upper and lower jaws used in mastication MP:0030611 abnormal tooth number anomaly in the number of the bony structures of the upper and lower jaws used in mastication MP:0030612 organic aciduria increased excretion of non-amino organic acids in urine MP:0030613 dicarboxylic aciduria an increased concentration of dicarboxylic acid in the urine, occurring during increased mobilization or inhibited beta-oxidation of fatty acids, where a number of 3-hydroxydicarboxylic acids are excreted in urine MP:0030614 methylmalonic aciduria increased concentration of methylmalonic acid in the urine MP:0030615 ethylmalonic aciduria increased concentration of ethylmalonic acid in the urine; ethylmalonic acid is a dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group MP:0030616 hyperglycinuria excretion of excessive amounts of glycine in the urine MP:0030617 hyperglutaminuria excretion of excessive amounts of glutamine in the urine MP:0030618 tryptophanuria excretion of excessive amounts of tryptophan in the urine MP:0030619 homogentisic aciduria excretion of excessive amounts of homogentisic acid (an intermediate in the tyrosine degradation pathway) and its oxidized form (benzoquinoneacetate) in the urine, giving it an unusually dark color on prolonged exposure to air MP:0030620 valinuria excretion of excessive amounts of valine in the urine MP:0030621 abnormal cysteine level anomaly in the amount of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3; the thiol side chain in cysteine is susceptible to oxidation to give the disulfide derivative cystine, which serves an important structural role in many proteins MP:0030622 increased cysteine level increase in the amount of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 MP:0030623 decreased cysteine level reduction in the amount of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 MP:0030624 abnormal circulating cysteine level anomaly in the amount per unit of blood of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 MP:0030625 increased circulating cysteine level increase in the amount per unit of blood of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 MP:0030626 decreased circulating cysteine level reduction in the amount per unit of blood of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 MP:0030627 abnormal methylmalonic acid level any anomaly in the amount of methylmalonic acid, a dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group MP:0030628 increased methylmalonic acid level increase in the amount of methylmalonic acid, a dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group MP:0030629 decreased methylmalonic acid level reduction in the amount of methylmalonic acid, a dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group MP:0030630 increased circulating methylmalonic acid level increased concentration in the blood of methylmalonic acid, a dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group MP:0030631 abnormal urine creatine level any change in the amount of creatine in the urine; creatine is a glycine derivative having methyl and amidino groups attached to the nitrogen MP:0030632 increased urine creatine level an increased concentration of creatine in the urine; creatine is a glycine derivative having methyl and amidino groups attached to the nitrogen MP:0030633 decreased urine creatine level a decreased concentration of creatine in the urine; creatine is a glycine derivative having methyl and amidino groups attached to the nitrogen MP:0030634 abnormal taurine level anomaly in the amount of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine metabolism MP:0030635 increased taurine level increase in the amount of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine metabolism MP:0030636 decreased taurine level reduction in the amount of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine metabolism MP:0030637 abnormal circulating taurine level anomaly in the amount per unit of blood of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine MP:0030638 increased circulating taurine level increase in the amount per unit of blood of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine MP:0030639 decreased circulating taurine level reduction in the amount per unit of blood of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine MP:0030640 abnormal methionine level anomaly in the amount of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins; methionine is butyric acid bearing an amino substituent at position 2 and a methylthio substituent at position 4 MP:0030641 increased methionine level increase in the amount of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins MP:0030642 decreased methionine level reduction in the amount of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins MP:0030643 abnormal circulating methionine level anomaly in the amount per unit of blood of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins MP:0030644 increased circulating methionine level increase in the amount per unit of blood of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins MP:0030645 decreased circulating methionine level reduction in the amount per unit of blood of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins MP:0030646 abnormal ornithine level anomaly in the amount of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis; ornithine is an alpha-amino acid that is pentanoic acid bearing two amino substituents at positions 2 and 5 MP:0030647 increased ornithine level increase in the amount of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis MP:0030648 decreased ornithine level reduction in the amount of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis MP:0030649 abnormal circulating ornithine level anomaly in the amount per unit of blood of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis MP:0030650 increased circulating ornithine level increase in the amount per unit of blood of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis MP:0030651 decreased circulating ornithine level reduction in the amount per unit of blood of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis MP:0030652 abnormal circulating glutathione level aberrant concentration in the blood of glutathione, a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine MP:0030653 increased circulating glutathione level increase in the amount per unit of blood of glutathione, a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine MP:0030654 abnormal circulating glycine level aberrant concentration in the blood of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain MP:0030655 increased circulating glycine level increase in the amount per unit of blood of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain MP:0030656 decreased circulating glycine level reduction in the amount per unit of blood of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain MP:0030657 abnormal glycine level anomaly in the amount of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain; glycine is a major inhibitory neurotransmitter in the mammalian central nervous system MP:0030658 increased glycine level increase in the amount of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain MP:0030659 decreased glycine level reduction in the amount of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain MP:0030660 abnormal circulating arginine level aberrant concentration in the blood of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group MP:0030661 increased circulating arginine level increase in the amount per unit of blood of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group; usually associated with a deficiency of arginase MP:0030662 decreased circulating arginine level reduction in the amount per unit of blood of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group MP:0030663 abnormal arginine level anomaly in the amount of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group MP:0030664 increased arginine level increase in the amount of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group MP:0030665 decreased arginine level reduction in the amount of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group MP:0030666 abnormal circulating proline level aberrant concentration in the blood of proline, an alpha-amino acid that is pyrrolidine bearing a carboxy substituent at position 2; proline is a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins MP:0030667 increased circulating proline level increase in the amount per unit of blood of proline, an alpha-amino acid that is pyrrolidine bearing a carboxy substituent at position 2; proline is a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins MP:0030668 decreased circulating proline level reduction in the amount per unit of blood of proline, an alpha-amino acid that is pyrrolidine bearing a carboxy substituent at position 2; proline is a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins MP:0030669 abnormal circulating phenylalanine level aberrant concentration in the blood of phenylalanine (2-amino-3-phenylpropanoic acid), an aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group; it is an essential alpha-amino acid and the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin MP:0030670 increased circulating phenylalanine level increase in the amount per unit of blood of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin MP:0030671 decreased circulating phenylalanine level reduction in the amount per unit of blood of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin MP:0030672 abnormal circulating alanine level aberrant concentration in the blood of alanine, an alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2 MP:0030673 increased circulating alanine level increase in the amount per unit of blood of alanine, an alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2 MP:0030674 decreased circulating alanine level reduction in the amount per unit of blood of alanine, an alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2 MP:0030675 abnormal acetylcholine level anomaly in the amount of acetylcholine, an ester of acetic acid and choline; acetylcholine is a major neurotransmitter and neuromodulator both in the central and peripheral nervous systems; it also acts as a paracrine signal in various non-neural tissues MP:0030676 increased acetylcholine level greater than the normal amount of acetylcholine, an ester of acetic acid and choline; acetylcholine is a major neurotransmitter and neuromodulator both in the central and peripheral nervous systems; it also acts as a paracrine signal in various non-neural tissues MP:0030677 abnormal hydroxyproline level anomaly in the amount of hydroxyproline, a proline derivative that is proline substituted by at least one hydroxy group; hydroxyproline is non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix MP:0030678 increased hydroxyproline level increase in the amount of hydroxyproline, a non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix MP:0030679 decreased hydroxyproline level reduction in the amount of hydroxyproline, a non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix MP:0030680 abnormal circulating hydroxyproline level anomaly in the amount per unit of blood of hydroxyproline, a non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix MP:0030681 increased circulating hydroxyproline level increase in the amount per unit of blood of hydroxyproline, a non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix MP:0030682 hydroxyprolinuria excretion of excessive amounts of hydroxyproline in the urine MP:0030683 abnormal cystathionine level anomaly in the amount of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine MP:0030684 increased cystathionine level increase in the amount of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine MP:0030685 decreased cystathionine level reduction in the amount of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine MP:0030686 abnormal circulating cystathionine level anomaly in the amount per unit of blood of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine MP:0030687 increased circulating cystathionine level increase in the amount per unit of blood of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine MP:0030688 decreased circulating cystathionine level reduction in the amount per unit of blood of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine MP:0030689 cystathioninuria excretion of excessive amounts of cystathionine in the urine MP:0030690 abnormal serine level anomaly in the amount of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group; serine participates in the biosynthesis of purines and pyrimidines, is the precursor to glycine and cysteine and to numerous metabolites including sphingolipids and folate, and is often a hydrogen donor in enzymes, such as trypsin and chymotrypsin, playing a key role in their function as catalysts MP:0030691 increased serine level increase in the amount of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group MP:0030692 decreased serine level reduction in the amount of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group MP:0030693 abnormal circulating serine level anomaly in the amount per unit of blood of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group MP:0030694 increased circulating serine level increase in the amount per unit of blood of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group MP:0030695 decreased circulating serine level reduction in the amount per unit of blood of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group MP:0030696 abnormal phenylalanine level anomaly in the amount of phenylalanine (2-amino-3-phenylpropanoic acid), an aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group; it is an essential alpha-amino acid and the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin MP:0030697 increased phenylalanine level increase in the amount of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin MP:0030698 decreased phenylalanine level reduction in the amount of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin MP:0030699 abnormal threonine level anomaly in the amount of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins MP:0030700 increased threonine level increase in the amount of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins MP:0030701 decreased threonine level reduction in the amount of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins MP:0030702 abnormal circulating threonine level anomaly in the amount per unit of blood of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins MP:0030703 increased circulating threonine level increase in the amount per unit of blood of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins MP:0030704 decreased circulating threonine level reduction in the amount per unit of blood of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins MP:0030705 abnormal glutamine level anomaly in the amount of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states; glutamine plays several important roles, including protein and glutathione synthesis, energy production, acid-base balance, maintenance of optimal antioxidant status, intestinal integrity, immune function, gluconeogenesis, nitrogen transport, and neurotransmitter, nucleotide and nucleic acid synthesis MP:0030706 increased glutamine level increase in the amount of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states MP:0030707 decreased glutamine level reduction in the amount of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states MP:0030708 abnormal circulating glutamine level anomaly in the amount per unit of blood of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states MP:0030709 increased circulating glutamine level increase in the amount per unit of blood of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states MP:0030710 decreased circulating glutamine level reduction in the amount per unit of blood of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states MP:0030711 abnormal isoleucine level anomaly in the amount of isoleucine, a 2-amino-3-methylpentanoic acid having either (2R,3R)- or (2S,3S)-configuration; it is an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels MP:0030712 increased isoleucine level increase in the amount of isoleucine, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels MP:0030713 decreased isoleucine level reduction in the amount of isoleucine, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels MP:0030714 abnormal circulating isoleucine level anomaly in the amount per unit of blood of isoleucine, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels MP:0030715 increased circulating isoleucine level increase in the amount per unit of blood of isoleucine, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels MP:0030716 decreased circulating isoleucine level reduction in the amount per unit of blood of isoleucine, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels MP:0030717 abnormal circulating lysine level aberrant concentration in the blood of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis; in humans, lysine plays additional roles in the crosslinking of collagen polypeptides, uptake of essential mineral nutrients, and in the production of carnitine, which is key in fatty acid metabolism; it is also involved in epigenetic regulation by means of histone modification MP:0030718 increased circulating lysine level increase in the amount per unit of blood of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis MP:0030719 decreased circulating lysine level reduction in the amount per unit of blood of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis MP:0030720 abnormal lysine level anomaly in the amount of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis; in humans, lysine plays additional roles in the crosslinking of collagen polypeptides, uptake of essential mineral nutrients, and in the production of carnitine, which is key in fatty acid metabolism; it is also involved in epigenetic regulation by means of histone modification MP:0030721 increased lysine level increase in the amount of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis MP:0030722 decreased lysine level reduction in the amount of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis MP:0030723 abnormal valine level anomaly in the amount of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair MP:0030724 increased valine level increase in the amount of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair MP:0030725 decreased valine level reduction in the amount of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair MP:0030726 abnormal circulating valine level aberrant concentration in the blood of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair MP:0030727 increased circulating valine level increase in the amount per unit of blood of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair MP:0030728 decreased circulating valine level reduction in the amount per unit of blood of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair MP:0030729 abnormal beta-alanine level anomaly in the amount of beta-alanine (3-aminopropanoic acid), an achiral amino acid and an isomer of alanine; it occurs free (e.g. in brain) and in combination (e.g. in pantothenate) but it is not a constituent of proteins MP:0030730 increased beta-alanine level increase in the amount of beta-alanine (3-aminopropanoic acid), an achiral amino acid and an isomer of alanine; it occurs free (e.g. in brain) and in combination (e.g. in pantothenate) but it is not a constituent of proteins MP:0030731 abnormal gamma-aminobutyric acid level anomaly in the amount of gamma-aminobutyric acid, a non-proteinogenic gamma-amino acid that is not incorporated into proteins and acts as the chief inhibitory neurotransmitter in the mammalian central nervous system MP:0030732 increased gamma-aminobutyric acid level increase in the amount of gamma-aminobutyric acid, a non-proteinogenic gamma-amino acid that is not incorporated into proteins and acts as the chief inhibitory neurotransmitter in the mammalian central nervous system MP:0030733 decreased gamma-aminobutyric acid level reduction in the amount of gamma-aminobutyric acid, a non-proteinogenic gamma-amino acid that is not incorporated into proteins and acts as the chief inhibitory neurotransmitter in the mammalian central nervous system MP:0030734 increased urine gamma-aminobutyric acid level excretion of excessive amounts of gamma-aminobutyric in the urine MP:0030735 abnormal glutamic acid level anomaly in the amount of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter MP:0030736 increased glutamic acid level increase in the amount of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter MP:0030737 decreased glutamic acid level reduction in the amount of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter MP:0030738 abnormal circulating glutamic acid level aberrant concentration in the blood of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter MP:0030739 increased circulating glutamic acid level increase in the amount per unit of blood of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter MP:0030740 decreased circulating glutamic acid level reduction in the amount per unit of blood of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter MP:0030741 abnormal aspartic acid level anomaly in the amount of aspartic acid (2-aminobutanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, aspartate, may play a role in excitatory neurotransmission MP:0030742 increased aspartic acid level increase in the amount of aspartic acid (2-aminobutanedioic acid) or its anion form, aspartate MP:0030743 decreased aspartic acid level reduction in the amount of aspartic acid (2-aminobutanedioic acid) or its anion form, aspartate MP:0030744 abnormal circulating homocitrulline level aberrant concentration in the blood of homocitrulline, an amino acid and a metabolite of ornithine in mammalian metabolism MP:0030745 increased circulating homocitrulline level increase in the amount per unit of blood of homocitrulline, an amino acid and a metabolite of ornithine in mammalian metabolism MP:0030746 abnormal leucine level anomaly in the amount of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins MP:0030747 increased leucine level increase in the amount of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins MP:0030748 decreased leucine level reduction in the amount of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins MP:0030749 abnormal circulating leucine level anomaly in the amount per unit of blood of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins MP:0030750 increased circulating leucine level increase in the amount per unit of blood of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins MP:0030751 decreased circulating leucine level reduction in the amount per unit of blood of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins MP:0030752 abnormal choline level any anomaly in the amount of choline (2-hydroxyethyltrimethylammonium), an amino alcohol that occurs widely in living organisms as a constituent of certain types of phospholipids and in the neurotransmitter acetylcholine MP:0030753 decreased choline level less than the normal amount of choline (2-hydroxyethyltrimethylammonium), an amino alcohol that occurs widely in living organisms as a constituent of certain types of phospholipids and in the neurotransmitter acetylcholine MP:0030754 abnormal histamine level anomaly in the amount of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching MP:0030755 increased histamine level increase in the amount of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching MP:0030756 decreased histamine level reduction in the amount of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching MP:0030757 abnormal circulating histamine level aberrant concentration in the blood of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching MP:0030758 increased circulating histamine level increase in the amount per unit of blood of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching MP:0030759 decreased circulating histamine level reduction in the amount per unit of blood of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching MP:0030760 increased circulating dopamine level greater than the normal blood amount of dopamine MP:0030761 increased adrenaline level greater than the normal amount of adrenaline, a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels MP:0030762 decreased adrenaline level less than the normal amount of adrenaline, a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels MP:0030763 abnormal anandamide level anomaly in the amount of anandamide, N-arachidonoylethanolamine, a fatty acid neurotransmitter derived from the non-oxidative metabolism of arachidonic acid; it is an endocannabinoid that binds to cannabinoid receptors and influences mood, appetite, motivation, perception of pain and pleasure, and memory MP:0030764 increased anandamide level increase in the amount of anandamide, N-arachidonoylethanolamine, a fatty acid neurotransmitter derived from the non-oxidative metabolism of arachidonic acid; it is an endocannabinoid that binds to cannabinoid receptors and influences mood, appetite, motivation, perception of pain and pleasure, and memory MP:0030765 decreased anandamide level reduction in the amount of anandamide, N-arachidonoylethanolamine, a fatty acid neurotransmitter derived from the non-oxidative metabolism of arachidonic acid; it is an endocannabinoid that binds to cannabinoid receptors and influences mood, appetite, motivation, perception of pain and pleasure, and memory MP:0030766 increased urine catecholamine level greater than the normal urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines act as hormones or neurotransmitters and are derived from the amino acid tyrosine MP:0030767 decreased urine catecholamine level less than the normal urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines act as hormones or neurotransmitters and are derived from the amino acid tyrosine MP:0030768 increased urine dopamine level an increased amount of dopamine in the urine compared to the normal state MP:0030769 decreased urine dopamine level a reduced amount of dopamine in the urine compared to the normal state MP:0030770 increased urine adrenaline level an increased amount of adrenaline in the urine compared to the normal state MP:0030771 decreased urine adrenaline level a reduced amount of adrenaline in the urine compared to the normal state MP:0030772 increased urine noradrenaline level an increased amount of noradrenaline in the urine compared to the normal state MP:0030773 decreased urine noradrenaline level a reduced amount of noradrenaline in the urine compared to the normal state MP:0030774 abnormal ischiofemoral ligament morphology any structural anomaly of the triangular band of strong fibers on the posterior side of the hip joint; its fibers span from the ischium at a point below and behind the acetabulum to blend with the circular fibers at the posterior end of the joint capsule and attach at the intertrochanteric line of the femur MP:0030775 abnormal calcaneal tendon morphology any structural anomaly of the large, strong tendon that serves to attach the plantaris, gastrocnemius (calf) and soleus muscles to the calcaneus (heel) bone MP:0030776 calcified calcaneal tendon pathologic deposition of calcium salts in the large, strong tendon that serves to attach the plantaris, gastrocnemius (calf) and soleus muscles to the calcaneus (heel) bone MP:0030777 abnormal urine citrate level any anomaly in the urinary amount of citrate, 2-hydroxy-1,2,3-propanetricarboyxlate, an important intermediate in the tricarboxylic acid cycle MP:0030778 increased urine citrate level greater than the normal urinary amount of citrate, 2-hydroxy-1,2,3-propanetricarboyxlate, an important intermediate in the tricarboxylic acid cycle MP:0030779 decreased urine citrate level less than the normal urinary amount of citrate, 2-hydroxy-1,2,3-propanetricarboyxlate, an important intermediate in the tricarboxylic acid cycle MP:0030780 increased urine glycerol level an increased amount of glycerol in the urine compared to the normal state MP:0030781 decreased urine glycerol level a reduced amount of glycerol in the urine compared to the normal state MP:0030782 abnormal urine glycerol level any change in the amount of glycerol in the urine MP:0030783 abnormal posterior longitudinal ligament morphology any structural anomaly of the ligament that runs within the vertebral canal along the posterior aspect of the vertebral bodies; it is attached mainly to the intervertebral (IV) discs and less so to the posterior aspects of the vertebral bodies from C2 (axis) to the sacrum, often bridging fat and vessels between the ligament and the bony surface; it weakly resists hyperflexion of the vertebral column and helps prevent or redirect posterior herniation of the nucleus pulposus of an IV disc; the posterior longitudinal ligament is well provided with nociceptive (pain) nerve endings and is a much narrower, somewhat weaker band than the anterior longitudinal ligament MP:0030784 abnormal iliofemoral ligament morphology any structural anomaly of the strong triangular ligament that is attached by its apex to the anterior inferior spine of the ilium and acetabular margin and by its base to the intertrochanteric line of the femur; it stabilizes the hip joint and limits extension and lateral rotation of the hip MP:0030785 abnormal falciform ligament morphology any structural anomaly of the broad and thin, sickle-shaped peritoneal ligament that attaches the liver to the anterior body wall and is a remnant of the ventral mesentery of the fetus; it is situated in an anteroposterior plane but lies obliquely so that one surface faces forward and is in contact with the peritoneum behind the right rectus abdominis and the diaphragm, while the other is directed backwards and is in contact with the left lobe of the liver MP:0030786 absent falciform ligament missing the broad and thin, sickle-shaped peritoneal ligament that attaches the liver to the anterior body wall and is a remnant of the ventral mesentery of the fetus; normally, it is situated in an anteroposterior plane but lies obliquely so that one surface faces forward and is in contact with the peritoneum behind the right rectus abdominis and the diaphragm, while the other is directed backwards and is in contact with the left lobe of the liver MP:0030787 abnormal cranial suspensory ligament morphology any structural anomaly of the ligament that connects the cranial tip of the future gonad to the dorsocranial abdominal cavity; during male embryogenesis, outgrowth of the gubernaculum and regression of the CSL result in transabdominal descent of the testes, whereas in the female, development of the CSL in conjunction with failure of the gubernaculum development holds the ovaries in a position lateral to the kidney MP:0030788 abnormal femur head morphology any structural anomaly of the highest, globular part of the thigh bone which comprises two-thirds of a sphere and articulates with the acetabulum in the pelvic bone forming the hip joint; the head is attached to the femoral body or shaft by the neck of the femur; its surface is smooth, coated with cartilage in the fresh state, except over an ovoid depression, the fovea capitis femoris, which is situated a little below and behind the center of the head, and gives attachment to the ligament of head of femur MP:0030789 abnormal femur neck morphology any structural anomaly of the flattened pyramidal process of bone, connecting the femoral head with the femoral shaft, and forming with the latter a wide angle opening medialward MP:0030790 coxa vara a hip deformity that includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees; it may be congenital often syndromic, acquired, or developmental MP:0030791 club-shaped femur an abnormal conformation of the femur that becomes gradually enlarged at one end MP:0030792 large femur head increased size of the femur head MP:0030793 short femur neck decreased length of the femur neck MP:0030794 broad femur neck increased width of the femur neck MP:0030795 joint dislocation displacement of one or more bones of a joint from the normal position; common sites include the shoulder, patella, elbow, wrist, finger and hip; a partial dislocation is referred to as a subluxation MP:0030796 hip dislocation displacement of the femur from its normal location in the hip joint MP:0030797 joint laxity looseness or lack of stability of a joint; may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles MP:0030798 joint contracture chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints MP:0030799 abnormal tendon sheath morphology any structural anomaly of the membrane that wraps around a tendon; it allows the tendon to stretch and prevents it from adhering to the overlying fascia; tendon sheaths consist of two layers: a fibrous layer, made of tight collagenous tissue, and a synovial layer; the synovial part of the tendon sheath consists of a visceral and parietal layer separated by synovial fluid, which keeps the tendon moist and lubricated MP:0030800 abnormal patellar ligament morphology any structural anomaly of the central portion of the common tendon of the quadriceps femoris; it is attached to the apex of the patella and to the lower part of the tubercle of the tibia; it is sometimes called the patellar tendon as it is a continuation of the quadriceps tendon MP:0030801 tendonitis inflammation of a tendon MP:0030802 abnormal tendon physiology any functional anomaly of the fibrous bands or cords of connective tissue at the ends of muscle fibers that attach muscles to bones and other structures MP:0030803 abnormal tendon cell morphology any structural anomaly of any of the elongated fibrocytes in which the cytoplasm is stretched between the collagen fibers of the tendon; tendon cells have a central cell nucleus with a prominent nucleolus, a well-developed rough endoplasmic reticulum, and are responsible for synthesis and turnover of tendon fibers and ground substance MP:0030804 abnormal synovial joint morphology any structural anomaly of any joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity (e.g. temporomandibular joint, knee joint) MP:0030805 abnormal limb joint morphology any structural anomaly of any joint that is part of a (free) limb MP:0030806 abnormal autopod joint morphology any structural anomaly of any limb joint that is part of an autopod MP:0030807 abnormal forelimb joint morphology any structural anomaly of any limb joint that is part of a forelimb MP:0030808 abnormal hindlimb joint morphology any structural anomaly of any limb joint that is part of a hindlimb MP:0030809 abnormal humeroradial joint morphology any structural anomaly of the hinge joint between the head of the radius and the capitulum of the humerus MP:0030810 abnormal atlanto-occipital joint morphology any structural anomaly of either of a pair of condyloid synovial joints between the superior articular facets of the atlas and the condyles of the occipital bone MP:0030811 abnormal hand joint morphology any structural anomaly of any skeletal joint that is part of a hand (manus) MP:0030812 abnormal metacarpophalangeal joint morphology any structural anomaly of any of the condylar or ellipsoid synovial joints between the heads of the metacarpal bones and the bases of the proximal phalanges MP:0030813 abnormal hand interphalangeal joint morphology any structural anomaly of any hinge-joints of the phalanges of the hand; there are two sets in each finger (except in the thumb): (i) proximal interphalangeal joints (PIP), those between the first (also called proximal) and second (intermediate) phalanges and (ii) distal interphalangeal joints (DIP), those between the second and third (distal) phalanges; a similar group of articulations also function in the toes MP:0030814 abnormal wrist joint morphology any structural anomaly of the joint connecting the forelimb zeugopod skeleton with the carpal skeleton MP:0030815 abnormal radiocarpal joint morphology any structural anomaly of the major condyloid synovial joint of the wrist which occurs proximally between the distal end of the radius and the articular disc of the distal radioulnar joint, and distally by the proximal carpal row (the scaphoid, lunate and triquetral bones) MP:0030816 abnormal shoulder joint morphology any structural anomaly of the joint that is formed by the union of the humerus, the scapula (or shoulder blade), and the clavicle (or collarbone) MP:0030817 abnormal glenohumeral joint morphology any structural anomaly of the main articulation of the shoulder joint; the glenohumeral joint is the multiaxial ball-and-socket synovial joint formed by the articular surfaces of the glenoid cavity of the scapula and the head of the humerus MP:0030818 abnormal girdle joint morphology any structural anomaly of any skeletal joint that is part of an appendage girdle region MP:0030819 abnormal pelvic girdle joint morphology any structural anomaly of any synovial joint that is part of a pelvic girdle region MP:0030820 abnormal pectoral girdle joint morphology any structural anomaly of any synovial joint that is part of a pectoral girdle region MP:0030821 abnormal sacroiliac joint morphology any structural anomaly of the synovial joint that forms between the lateral articulating surfaces of the sacrum and the articulating surfaces of the ilium; it is supported by a number of strong ligaments which increase joint stability and reduce the incidence of dislocations MP:0030822 sacroiliac joint inflammation inflammation of one or both of the sacroiliac joints; it may be a symptom of other inflammatory arthritic conditions MP:0030823 increased femur size greater than average size of the long bone of the thigh (femur) MP:0030824 increased femur weight greater than average weight of the long bone of the thigh (femur) MP:0030825 decreased femur size less than average size of the long bone of the thigh (femur) MP:0030826 decreased femur weight less than average weight of the long bone of the thigh (femur) MP:0030827 femur fracture a crack or break in the long bone of the thigh (femur) MP:0030828 abnormal obturator foramen morphology any structural anomaly of the large opening created by the ischium and pubis bones of the pelvis through which nerves and blood vessels pass MP:0030829 abnormal hip joint morphology any structural anomaly of the multi-axial, ball-and-socket synovial joint between the femur head and the acetabulum of the innominate bone MP:0030830 abnormal acetabulum morphology any structural anomaly of the large cup-shaped cavity on the anterolateral aspect of the pelvis that articulates with the femoral head to form the hip joint; it is formed by the three bones of the pelvis (the ischium, ilium and pubis) and is the socket portion of the ball-and-socket hip joint MP:0030831 abnormal glenoid fossa morphology any structural anomaly of the shallow, pyriform articular surface located on the lateral angle of the scapula; it is directed laterally and forward and articulates with the head of the humerus MP:0030832 abnormal scapular coracoid process morphology any structural anomaly of the hook-shaped bone structure that projects anterolaterally from the superior aspect of the scapular neck and serves as an important anchor for several tendinous and ligamentous structures MP:0030833 small acromion reduced size of the outer end of the spine of the scapula that protects the glenoid cavity, forms the outer angle of the shoulder, and articulates with the clavicle MP:0030834 acromion hypoplasia decrease in the number of normal cells in normal arrangement in the acromion, typically resulting in decreased size MP:0030835 abnormal ankle joint morphology any structural anomaly of a joint that connects the hindlimb autopod and zeugopod skeletons MP:0030836 abnormal tibiofibular joint morphology any structural anomaly of a joint that connects the tibia and the fibula MP:0030837 abnormal knee joint morphology any structural anomaly of the synovial hinge joint formed between the femur, tibia, and patella; it involves two articulations: the tibiofemoral joint, connecting the proximal tibia to the distal femur, and the patellofemoral joint, connecting the patella to the femur; the knee joint allows flexion and extension of the leg, as well as slight medial rotation in end extension, and lateral rotation when unlocking the knee MP:0030838 abnormal acetabular fossa morphology any structural anomaly of the roughened depression in the acetabular floor which extends superiorly from the acetabular notch and hosts the ligamentum teres MP:0030839 abnormal acetabular notch morphology any structural anomaly of the deep notch (depression) located anteroinferiorly along the margin of the acetabulum; it is bridged by the transverse ligament and thus forms the acetabular foramen through which nutrient vessels and nerves enter the hip joint; the ligamentum teres has part of its origin from the acetabular notch MP:0030840 abnormal acetabular labrum morphology any structural anomaly of the horse-shaped fibrocartilaginous structure that attaches to the peripheral rim of the acetabulum, contacts the articular surface of the femoral head, and blends inferiorly with the transverse acetabular ligament; it increases the depth of the acetabulum, increasing static stability and contributes to hydrostatic pressurization of the intra-articular space, joint lubrication, and load distribution MP:0030841 abnormal transverse acetabular ligament morphology any structural anomaly of the fibrous continuation of the acetabular labrum that is completely collagenous and contains no chondrocytes or cartilage; it consists of strong, flattened fibers which cross the acetabular notch and convert it into the acetabular foramen through which nutrient vessels and nerves enter the hip joint; it prevents inferior displacement of head of femur MP:0030842 absent subarcuate fossa missing the irregular depression normally found on the posterior inner surface of the petrous portion of the temporal bone just below its crest and above and lateral to the internal acoustic meatus MP:0030843 elbow dislocation dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet MP:0030844 abnormal pubis body morphology any structural anomaly of the flattened medial portion of the pubic bone entering into the pubic symphysis; superior and inferior rami extend from it; the body forms one-fifth of the acetabulum, contributing by its external surface both to the lunate surface and the acetabular fossa; its internal surface enters into the formation of the wall of the lesser pelvis and gives origin to a portion of the obturator internus MP:0030845 abnormal pubic ramus morphology any structural anomaly of either of the two bar-like processes (branches or rami) of the pubic bone that extend laterally and posteriorly from the pubic symphysis; the inferior ramus articulates with the ischium; the superior ramus articulates with the ilium and forms the front of the acetabulum MP:0030846 abnormal superior pubic ramus morphology any structural anomaly of the bar of bone, triangular in section, which extends posterosuperiorly from the body of the pubis to form the superior boundary of the obturator foramen; it contributes about one fifth of the articular surface of the acetabulum MP:0030847 abnormal inferior pubic ramus morphology any structural anomaly of the inferior extension from body of pubic bone that meets with the ramus of the ischium below the obturator foramen to form the ischiopubic ramus MP:0030848 short ilium reduced length of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis MP:0030849 wide ilium increased width of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis MP:0030850 abnormal ilium body morphology any structural anomaly of the thick lower part (base) of the ilium that forms about the upper two-fifths of the acetabulum; its external surface is partly articular, partly non-articular; the articular segment forms part of the lunate surface of the acetabulum, the non-articular portion contributes to the acetabular fossa; the internal surface of the body is part of the wall of the lesser pelvis and gives origin to some fibers of the obturator internus; below, it is continuous with the pelvic surfaces of the ischium and pubis, only a faint line indicating the place of union MP:0030851 abnormal iliac fossa morphology any structural anomaly of the large, smooth, concave surface on the internal surface of the ilium; the fossa is bounded above by the iliac crest, below by the arcuate line, and in front and behind, by the anterior and posterior borders of the ilium; it gives origin to the iliacus muscle MP:0030852 abnormal ilium wing morphology any structural anomaly of the large, expanded (wing-like) portion of the ilium which bounds the greater pelvis laterally MP:0030853 abnormal iliac crest morphology any structural anomaly of the superior border of the wing of ilium and the superolateral margin of the greater pelvis; it runs from the anterior superior iliac spine to the posterior superior iliac spine; many of the important abdominal and core muscles are attached to the iliac crest MP:0030854 atlanto-occipital joint dislocation separation of the joints formed by the occipital condyles and the atlas (C-1) MP:0030855 abnormal olecranon fossa morphology any structural anomaly of the deep triangular depression on the posterior side of the humerus, superior to the trochlea, in which the summit of the olecranon is received during extension of the forearm MP:0030856 abnormal olecranon morphology any structural anomaly of the large bony prominence at the proximal end of the ulna which articulates with the olecranon fossa of the humerus and is palpable at the posterior aspect of the elbow; while the olecranon is an attachment site for several muscle groups including the flexor carpi ulnaris and anconeus, the major muscle attachment is that of the triceps brachii muscle MP:0030857 absent olecranon missing the large bony prominence at the proximal end of the ulna which articulates with the olecranon fossa of the humerus and is palpable at the posterior aspect of the elbow MP:0030858 small olecranon size reduction of the large bony prominence at the proximal end of the ulna which articulates with the olecranon fossa of the humerus and is palpable at the posterior aspect of the elbow MP:0030859 absent sesamoid bone of gastrocnemius missing the small sesamoid bones situated behind the condyles of the femur MP:0030860 patellar dislocation complete displacement of the patella (kneecap) from its normal position in the patellofemoral groove (trochlea), the V-shaped notch on the front of the femur; the most common direction for a dislocated patella is lateral MP:0030861 abnormal triquetrum morphology any structural anomaly of the bone in the proximal row of the carpus that has a pyramidal shape and that is situated between the lunate and pisiform bones MP:0030862 absent triquetrum missing the bone in the proximal row of the carpus that has a pyramidal shape and that is situated between the lunate and pisiform bones MP:0030863 decreased joint mobility reduced ability to move joints in a full range of motion and with ease MP:0030864 wrist dislocation displacement of any of the small carpal bones which make up the wrist out of their normal position in the wrist joint MP:0030865 abnormal synovial joint cavity morphology any structural anomaly of the minute space enclosed by the synovial membrane and articular cartilages in a synovial joint; it is the site at which the articulating surfaces of the bones contact each other; it contains synovial fluid, a highly viscous, hyaluronic acid rich fluid that lubricates the joint surfaces MP:0030866 abnormal synovial joint membrane morphology any structural anomaly of the connective tissue membrane that lines the cavity of a synovial joint and produces the synovial fluid; it lines all internal surfaces of the cavity except for the articular cartilage of the bones MP:0030867 small thyroid cartilage size reduction of the largest of the laryngeal cartilages MP:0030868 absent thyroid cartilage missing the largest of the laryngeal cartilages MP:0030869 thyroid cartilage hypoplasia decrease in the number of normal cells in normal arrangement in the thyroid cartilage, typically resulting in decreased size MP:0030870 abnormal superior horn of thyroid cartilage morphology any structural anomaly of either of a pair of upward projections from the posterior border of the thyroid cartilage; it is long and narrow, directed upward, backward, and medialward, and ends in a conical extremity, which gives attachment to the lateral hyothyroid ligament MP:0030871 abnormal inferior horn of thyroid cartilage morphology any structural anomaly of either of a pair of downward projections from the posterior border of the thyroid cartilage; it is short and thick, directed downward, with a slight inclination forward and medialward, and presents, on the medial side of its tip, a small oval articular facet for articulation with the side of the cricoid cartilage MP:0030872 small cricoid cartilage size reduction of the most inferior of the laryngeal cartilages MP:0030873 absent cricoid cartilage missing the most inferior of the laryngeal cartilages MP:0030874 cricoid cartilage hypoplasia decrease in the number of normal cells in normal arrangement in the cricoid cartilage, typically resulting in decreased size MP:0030875 abnormal cartilaginous joint morphology any structural anomaly of any joint that lacks a joint cavity and involves bones that are joined together by either hyaline cartilage or fibrocartilage; there are two main types: synchondroses (or primary cartilaginous joints) where the bones are united by hyaline cartilage, and symphyses (or secondary cartilaginous joints) where the bones are united by a layer of fibrocartilage MP:0030876 abnormal costochondral joint morphology any structural anomaly of the hyaline cartilaginous joint (synchondrosis) between each rib and its costal cartilage; the articulation is between the cup-shaped depression in the sternal end of a rib and the lateral end of a costal cartilage; the rib and its cartilage are firmly bound together by the continuity of the periosteum of the rib with the perichondrium of the cartilage; no movement normally occurs at these joints MP:0030877 abnormal symphysis morphology any structural anomaly of any cartilaginous joint in which the articulating bones or cartilages are connected by fibrocartilage; a symphysis is a slightly movable joint (amphiarthrosis) MP:0030878 abnormal fibrous joint morphology any structural anomaly of any joint that lacks a joint cavity and involves bones that are joined together by dense fibrous connective tissue, consisting mainly of collagen; most (but not all) fibrous joints are immovable (synarthroses) MP:0030879 abnormal syndesmosis morphology any structural anomaly of any fibrous joint where the gap between two adjacent bones may be narrow, with the bones joined by ligaments, or the gap may be wide and filled in by a broad sheet of connective tissue called an interosseous membrane; syndemoses are slightly moveable (amphiarthrodial) MP:0030880 abnormal infrapatellar fat pad morphology any structural anomaly of the partly adipose wedge-shaped mass formed in the anterior region of the knee that is intracapsular but extrasynovial (and thus extra-articular); it extends superiorly from the patella and alar folds to the tibia and infrapatellar bursa and is delimited anteriorly by the patellar ligament and joint capsule and posteriorly by the synovial membrane MP:0030881 abnormal knee morphology any structural anomaly of the segment of the hindlimb that corresponds to the joint connecting a hindlimb stylopod and zeugopod MP:0030882 abnormal radius head morphology any structural anomaly of the proximal articular surface of the radius that forms part of the elbow joint and that is palpable on the lateral side of the elbow, immediately distal to the lateral epicondyle of the humerus; the radial head articulates with the ulna at the proximal radioulnar joint and with the humerus at the radiohumeral joint; at the proximal radioulnar joint, the radial head sits in the radial notch of the proximal ulna and is held in place by the annular ligaments; at the radiohumeral joint, the radial head sits adjacent to the capitellum of the humerus MP:0030883 dislocated radius head a dislocation of the head of the radius from its socket in the elbow joint MP:0030884 rachitic rosary abnormal expansion of the anterior rib ends at the costochondral junctions; most frequently seen in rickets as nodularity (prominent bony knobs) at the costochondral junctions MP:0030885 increased radius size greater than average size of the short bone of the lateral forearm MP:0030886 decreased radius size less than average size of the short bone of the lateral forearm MP:0030887 abnormal sternoclavicular joint morphology any structural anomaly of the synovial joint between the clavicle and the manubrium of the sternum; it is the only attachment of the upper limb to the axial skeleton and consists of the sternal end of the clavicle, the manubrium of the sternum, and part of the first costal cartilage; the articular surfaces are covered with fibrocartilage (as opposed to hyaline cartilage); the joint is separated into two compartments by a fibrocartilaginous articular disk MP:0030888 absent arytenoid cartilage missing the paired triangular cartilages that normally are located postlaterally at the level of the thyroid cartilage MP:0030889 small arytenoid cartilage size reduction of the paired triangular cartilages located postlaterally at the level of the thyroid cartilage MP:0030890 arytenoid cartilage hypoplasia decrease in the number of normal cells in normal arrangement in the arytenoid cartilage, typically resulting in decreased size MP:0030891 small epiglottis size reduction of the most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink MP:0030892 epiglottis hypoplasia decrease in the number of normal cells in normal arrangement in the epiglottis, typically resulting in decreased size MP:0030893 enlarged epiglottis increased size of the most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink MP:0030894 epiglottis hyperplasia increase in the number of normal cells in normal arrangement in the epiglottis, typically resulting in increased size MP:0030895 abnormal tibiofemoral joint morphology any structural anomaly of the modified hinge synovial joint that joins the distal femur to the proximal tibia; it is the weight-bearing joint of the knee; the articulation occurs between the medial and lateral femoral condyles and the tibial condyles MP:0030896 abnormal patellofemoral joint morphology any structural anomaly of the synovial joint between the condyles of the femur and the articular surface of the patella MP:0030897 abnormal humeroulnar joint morphology any structural anomaly of the simple hinge-type synovial joint between the trochlea on the medial aspect of the distal end of the humerus and the trochlear notch on the proximal ulna MP:0030898 abnormal first sternocostal joint morphology any structural anomaly of the synchondrosis type of cartilaginous joint in which hyaline cartilage unites the first rib to the manubrium of the sternum.; it forms an immobile joint (synarthrosis); the rest of the sternocostal joints are synovial plane joints MP:0030899 laryngeal cleft presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus MP:0030900 decreased ulna size less than average size of the medial and larger of the two bones of the forearm MP:0030901 increased ulna size greater than average size of the medial and larger of the two bones of the forearm MP:0030902 abnormal ulnar styloid process morphology any structural anomaly of the cylindrical, pointed, palpable projection from the medial and posterior aspect of the head of the ulna, to the tip of which is attached the ulnar collateral ligament of the wrist MP:0030903 small ulnar styloid process reduced size of the cylindric, pointed, palpable projection from the medial and posterior aspect of the head of the ulna, to the tip of which is attached the ulnar collateral ligament of the wrist MP:0030904 abnormal melanoblast physiology any functional anomaly of a cell that originates from the neural crest and differentiates into a pigment cell MP:0030905 abnormal melanoblast proliferation anomaly in the ability of melanoblasts to undergo expansion by cell division; a melanoblast is a cell that originates from the neural crest and differentiates into a pigment cell MP:0030906 decreased melanoblast proliferation reduction in the expansion rate of melanoblasts by cell division; a melanoblast is a cell that originates from the neural crest and differentiates into a pigment cell MP:0030907 increased melanoblast proliferation increase in the expansion rate of melanoblasts by cell division; a melanoblast is a cell that originates from the neural crest and differentiates into a pigment cell MP:0030908 abnormal melanocyte differentiation any anomaly in the process in which a relatively unspecialized cell acquires specialized features of a melanocyte MP:0030909 abnormal melanocyte adhesion any anomaly in the adhesive properties of melanocytes, resulting in abnormal cell to cell and cell to extracellular matrix (ECM) interactions MP:0030910 abnormal melanoblast apoptosis change in the timing or the number of melanoblasts undergoing programmed cell death; a melanoblast is a cell that originates from the neural crest and differentiates into a pigment cell MP:0030911 increased melanoblast apoptosis increase in the number of melanoblasts undergoing programmed cell death MP:0030912 decreased melanoblast apoptosis reduction in the number of melanoblasts undergoing programmed cell death MP:0030913 abnormal melanosome formation any anomaly in the aggregation, arrangement or bonding together of a set of components required to form a melanosome, a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored MP:0030914 abnormal endosome to melanosome transport any anomaly in the directed movement of substances from endosomes to the melanosome, a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored MP:0030915 abnormal melanosome maturation any anomaly in the developmental processes that are required for a melanosome to attain its fully functional state; melanosome maturation occurs through sequential stages (I-IV) that can be defined based on morphology and melanin content; stage I pre-melanosomes are roughly spherical, lack pigment, contain intraluminal vesicles, and resemble multivesicular bodies i.e. structures found along the endosomal pathway; stage II melanosomes are elongated (ellipsoidal) in shape, lack pigment, and contain intraluminal matrix fibers organized in a striated array; deposition of melanin along the matrix fibers begins in stage III melanosomes; stage IV melanosomes, corresponding to fully-melanized mature organelles, are characterized by a dense homogeneous deposit of melanin that covers all the internal structures of the matrix MP:0030916 abnormal melanosome size anomaly in the average size of the tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored MP:0030917 enlarged melanosome greater than average size of the tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored; giant melanosomes may become frequent in conditions of pathological melanogenesis MP:0030918 small melanosome less than average size of the tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored MP:0030919 absent hair follicle bulb missing the thickening of the proximal end of the hair follicle that contains rapidly proliferating, rather undifferentiated matrix cells (transient amplifying cells), melanocytes and outer root sheath cells MP:0030920 small hair follicle bulb reduced size of the thickening of the proximal end of the hair follicle that contains rapidly proliferating, rather undifferentiated matrix cells (transient amplifying cells), melanocytes and outer root sheath cells MP:0030921 abnormal hair club morphology any structural anomaly of the club-shaped structure which forms from keratinized epithelial cells at the base of the hair shaft during catagen, and interdigitates with the surrounding outer root sheath to anchor the hair in place; the club is necessary for the retention of a completed hair MP:0030922 absent hair club missing the club-shaped structure which forms from keratinized epithelial cells at the base of the hair shaft during catagen, and interdigitates with the surrounding outer root sheath to anchor the hair in place; the club is necessary for the retention of a completed hair MP:0030923 abnormal hair follicle ostium morphology any structural anomaly of any of the openings of the hair follicles through which the hair fibers emerge from the skin MP:0030924 early exit from telogen phase anomaly in the resting or quiescent phase of the hair growth cycle resulting a shortened telogen phase MP:0030925 early exit from anagen phase anomaly in the growth phase of the hair cycle resulting a shortened anagen phase MP:0030926 increased skin pigmentation visually detectable excess of pigment present in the skin MP:0030927 decreased telomere length reduction in the average length of the terminal repetitive DNA section of a chromosome that is involved in chromosomal replication and senescence and protects the end of the chromosome from deterioration; normal length is a few hundred base pairs MP:0030928 increased telomere length increase in the average length of the terminal repetitive DNA section of a chromosome that is involved in chromosomal replication and senescence and protects the end of the chromosome from deterioration; normal length is a few hundred base pairs MP:0030929 increased digit pigmentation visually detectable excess of pigment present on the finger or toe surface MP:0030930 decreased digit pigmentation visually detectable dilution of pigment present on the finger or toe surface MP:0030931 increased nipple pigmentation visually detectable excess of pigment present on the surface of the nipple and/or areola MP:0030932 hypopyon an accumulation of pus or white blood cells in the anterior chamber of the eye, appearing as a whitish or gray fluid between the cornea and the iris MP:0030933 hyphema hemorrhage within the anterior chamber of the eye MP:0030934 decreased primordial germ cell proliferation reduced ability of a primordial germ cell population to undergo expansion by cell division MP:0030935 increased primordial germ cell apoptosis increase in the number of primordial germ cells undergoing programmed cell death MP:0030937 increased mitochondrial DNA content greater than expected amount of DNA contained within the mitochondria of a mammalian cell MP:0030938 abnormal reticulophagy any anomaly in the selective autohagy process in which parts of the endoplasmic reticulum are loaded into autophagosomes, delivered to the vacuole, and degraded in response to changing cellular conditions MP:0030939 abnormal autophagosome formation any anomaly in the formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm MP:0030940 impaired autophagy impairment of the catabolic process involving the degradation of a cell's own components through the lysosomal machinery MP:0030941 enhanced autophagy enhancement of the catabolic process involving the degradation of a cell's own components through the lysosomal machinery MP:0030942 abnormal microtubule organizing center morphology any anomaly of the intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides MP:0030943 abnormal centrosome morphology any structural anomaly of the non-membrane-bound organelle comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized; centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle MP:0030944 abnormal pericentriolar material morphology any structural anomaly of the network of small fibers that surrounds the centrioles; it contains the microtubule nucleating activity of the centrosome MP:0030945 abnormal myoblast migration any anomaly in the orderly movement of a myoblast from one site to another during development; a myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers MP:0030946 abnormal myoblast proliferation anomaly in the ability of myoblasts to undergo expansion by cell division; a myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers MP:0030947 increased myoblast proliferation increase in the expansion rate of myoblasts by cell division; a myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers MP:0030948 decreased myoblast proliferation reduction in the expansion rate of myoblasts by cell division; a myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers MP:0030949 abnormal Golgi vesicle transport any anomaly in the directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles MP:0030950 abnormal synaptic vesicle exocytosis anomaly in the fusion of intracellular membrane-bounded vesicles with the pre-synaptic membrane of the neuronal cell resulting in impaired release of neurotransmitter into the synaptic cleft MP:0030951 abnormal endocytosis any anomaly in the vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle MP:0030952 abnormal Golgi stack morphology any structural anomaly of the set of thin, flattened membrane-bounded compartments, called cisternae, which form the central portion of the Golgi complex; the stack usually comprises cis, medial, and trans cisternae; the cis- and trans-Golgi networks are not considered part of the stack MP:0030953 abnormal Golgi cisterna morphology any structural anomaly of any of the thin, flattened membrane-bounded compartments that form the central portion of the Golgi complex MP:0030954 abnormal Golgi cis cisterna morphology any structural anomaly of the Golgi cisterna closest to the endoplasmic reticulum (ER), the first processing compartment through which proteins pass after export from the ER MP:0030955 abnormal Golgi trans cisterna morphology any structural anomaly of the Golgi cisterna farthest from the endoplasmic reticulum, the final processing compartment through which proteins pass before exiting the Golgi apparatus; this is the compartment in which N-linked protein glycosylation is completed MP:0030956 abnormal neuronal precursor cell migration any anomaly in the orderly movement of a neuroblast embryonic cell from one site to another during development MP:0030957 abnormal myotube morphology any structural anomaly of any of the multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse MP:0030958 abnormal myotube differentiation any anomaly in the process in which a relatively unspecialized cell acquires specialized features of a myotube cell; myotube differentiation starts with myoblast fusion and the appearance of specific cell markers (this is the cell development step); then individual myotubes fuse to form bigger myotubes and start to contract MP:0030959 abnormal myoblast fusion any anomaly in the process in which non-proliferating myoblasts fuse to existing fibers or to myotubes to form new fibers; a myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers MP:0030960 abnormal diapedesis any anomaly in the passage of a leukocyte between the tight junctions of endothelial cells lining blood vessels, typically the fourth and final step of cellular extravasation MP:0030961 abnormal outer hair cell kinocilium location or orientation outer hair cell kinocilia are displaced from the normal position and/or do not orient in a typical pattern MP:0030962 abnormal inner hair cell kinocilium location or orientation inner hair cell kinocilia are displaced from the normal position and/or do not orient in a typical pattern MP:0030963 abnormal brain ependyma motile cilium location or orientation brain ependyma motile cilia are displaced from the normal position and/or do not orient in a typical pattern MP:0030964 decreased brain ependyma motile cilium length reduced length of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert to move cerebrospinal fluid MP:0030965 increased brain ependyma motile cilium length increased length of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert to move cerebrospinal fluid MP:0030966 decreased brain ependyma motile cilium number reduced number of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert to move cerebrospinal fluid MP:0030967 abnormal circulating adiponectin level any anomaly in the blood concentration of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue MP:0030968 decreased circulating adiponectin level less than the normal concentration in the blood of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue MP:0030969 increased circulating adiponectin level greater than the normal concentration in the blood of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue MP:0030970 ketosis an abnormal increase of ketone bodies in the body tissues; it is typically pathological in conditions such as diabetes, or may be the consequence of a diet that is very low in carbohydrates MP:0030971 ketoacidosis acidosis resulting from accumulation of ketone bodies MP:0030972 increased myoblast apoptosis increase in the number of myoblasts undergoing programmed cell death MP:0030973 impaired gluconeogenesis reduction in the rate of formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol MP:0030974 enhanced gluconeogenesis increase in the rate of formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol MP:0030975 placenta hemorrhage presence of bleeding in the placenta MP:0030976 impaired sperm penetration of zona pellucida reduced ability or inability of sperm to infiltrate the zona pellucida in order to reach the oocyte; the process involves digestive enzymes from a modified lysosome called the acrosome, situated at the head of the sperm MP:0030977 impaired sperm-egg recognition reduced ability or inability to establish the initial contact between the sperm plasma membrane and the outer layer of the egg during fertilization MP:0030978 impaired binding of sperm to zona pellucida reduced ability or inability to execute the process in which the sperm binds to the zona pellucida glycoprotein layer of the egg; the process begins with the attachment of the sperm plasma membrane to the zona pellucida and includes attachment of the acrosome inner membrane to the zona pellucida after the acrosomal reaction takes place MP:0030979 decreased spinal cord weight lower than average weight of the spinal cord MP:0030980 abnormal acroplaxome morphology any structural anomaly of the F-actin-keratin cytoskeletal plate limited by a desmosome-like marginal ring that anchors the developing acrosome to the nuclear envelope and is thought to play a pivotal role in acrosome biogenesis and spermatid head shaping MP:0030981 abnormal dentate gyrus subgranular zone morphology any structural anomaly of the the narrow layer of cells located between the granule cell layer and hilus of the dentate gyrus, where adult neurogenesis occurs MP:0030982 abnormal copulatory plug deposition anomaly in the deposition of a plug of sperm or other gelatinous material into the opening of the vulva by a male at the termination of copulation; probably acts to prevent subsequent matings by other males MP:0030983 failure of copulatory plug deposition inability to initiate and/or complete the deposition of a plug of sperm or other gelatinous material into the opening of the vulva by a male at the termination of copulation MP:0030984 increased circulating osteocalcin level greater than the normal blood concentration of this noncollagenous protein hormone found in bone and dentin, which is secreted by osteoblasts MP:0030985 decreased circulating osteocalcin level less than the normal blood concentration of this noncollagenous protein hormone found in bone and dentin, which is secreted by osteoblasts MP:0030986 striatum atrophy acquired diminution of the size of the striatum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0030987 spinal cord inflammation local accumulation of fluid, plasma proteins, and leukocytes in the spinal cord MP:0030988 dysosmia any qualitative alteration or distortion of the perception of smell; qualitative alterations differ from quantitative alterations, which include anosmia and hyposmia MP:0030989 decreased spongiotrophoblast cell number reduction in the number of trophoblast cells that arise in the junctional zone of the placenta MP:0030990 nerve inflammation local accumulation of fluid, plasma proteins, and leukocytes in one or more nerves MP:0030991 optic nerve inflammation local accumulation of fluid, plasma proteins, and leukocytes in the optic nerve MP:0030992 atrioventricular cushion hypoplasia decrease in the number of normal cells in normal arrangement in the atrioventricular cushion, typically resulting in decreased size MP:0030993 abnormal adipose tissue glycogen level any anomaly in the concentration of a readily converted carbohydrate reserve in adipose tissue MP:0030994 decreased adipose tissue glycogen level less than the normal concentration of a readily converted carbohydrate reserve in adipose tissue MP:0030995 increased adipose tissue glycogen level greater than the normal concentration of a readily converted carbohydrate reserve in adipose tissue MP:0030996 decreased pacinian corpuscle number fewer than the expected number of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers and transmit signals generated by vibrations when grasping an object MP:0030997 absent pacinian corpuscles absence of all of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers and transmit signals generated by vibrations when grasping an object MP:0030998 small pacinian corpuscles decreased size of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers and transmit signals generated by vibrations when grasping an object MP:0030999 abnormal glycogen synthesis any anomaly in the reactions and pathways involved in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues MP:0031000 decreased glycogen synthesis any anomaly in the reactions and pathways involved in glycogen biosynthesis that results in reduced glycogen formation MP:0031001 increased glycogen synthesis any anomaly in the reactions and pathways involved in glycogen biosynthesis that results in increased glycogen formation MP:0031002 abnormal kidney glycogen level any anomaly in the concentration of a readily converted carbohydrate reserve in kidney MP:0031003 increased kidney glycogen level greater than the normal concentration of a readily converted carbohydrate reserve in kidney MP:0031004 decreased kidney glycogen level less than the normal concentration of a readily converted carbohydrate reserve in kidney MP:0031005 abnormal lung glycogen level any anomaly in the concentration of a readily converted carbohydrate reserve in lung MP:0031006 increased lung glycogen level greater than the normal concentration of a readily converted carbohydrate reserve in lung MP:0031007 decreased lung glycogen level less than the normal concentration of a readily converted carbohydrate reserve in lung MP:0031008 decreased bone marrow adipose tissue amount decreased quantity of the bone marrow fat-storing cells/tissue MP:0031009 abnormal sperm-egg fusion any anomaly in the binding and fusion of a sperm with the plasma membrane of the oocyte during the process of fertilization MP:0031010 failure of sperm-egg fusion failure to initiate and/or complete the binding and fusion of a sperm with the plasma membrane of the oocyte during the process of fertilization MP:0031011 abnormal sperm migration in female genital tract any anomaly in the ability of ejaculated sperm to migrate through the female genital tract to reach the oocyte in the oviduct; during their transit in the female tract, sperm encounter different environments with various mechanical and biochemical properties; to complete the journey, each sperm has to swim in a highly viscous medium in the cervix, avoid immunological detection in the uterus, cross the uterotubal junction, and ascend into the oviduct isthmus to ultimately reach the site of fertilization, the ampullary region of the oviduct MP:0031012 impaired sperm migration in female genital tract impaired ability of ejaculated sperm to migrate through the female genital tract and reach the oocyte at the site of fertilization, the ampullary region of the oviduct MP:0031013 abnormal egg activation any anomaly in the series of biochemical and morphological events that converts a metaphase-II-arrested oocyte into a fertilized egg ready to begin embryogenesis; in most mammals, oocyte activation is a spatial-temporal regulated process induced by sperm entry that involves early events such a transient rise in intracellular calcium concentration, cortical granule exocytosis and meiotic cell-cycle resumption, and later events such as pronuclear formation, translation of maternal mRNAs and meiosis-to-mitosis transition MP:0031014 polyspermy increased incidence of fertilized oocytes fused with two or more sperm due to reduced ability or inability to prevent fertilization by multiple sperm during the egg activation process; normally only a single sperm fuses with the egg plasma membrane and injects its nucleus and other organelles into the egg cytoplasm; if more than one sperm fuses, multipolar or extra mitotic spindles are formed, resulting in faulty segregation of chromosomes during cell division; nondiploid cells are produced, and development usually stops MP:0031015 abnormal granulosa cell apoptosis change in the timing or the number of granulosa cells undergoing programmed cell death MP:0031016 decreased granulosa cell apoptosis decrease in the number of granulosa cells undergoing programmed cell death MP:0031017 abnormal granulosa cell proliferation anomaly in the ability of a granulosa cell population to undergo expansion by cell division MP:0031018 decreased granulosa cell proliferation reduction in the expansion rate of a granulosa cell population by cell division MP:0031019 increased granulosa cell proliferation increase in the expansion rate of a granulosa cell population by cell division MP:0031020 premature ovarian failure cessation of ovarian function occurring at an earlier than expected age MP:0031021 abnormal gallbladder smooth muscle morphology any structural anomaly of the layer of loose smooth muscle bundles (tunica muscularis) located beneath the mucosa of the gallbladder wall and composed of fibers that are not arranged in distinct layers but lie in circular, longitudinal, and oblique directions; when these fibers contract, the gallbladder s contents are released through the cystic duct into the bile duct and eventually emptied into the duodenum to aid in the digestion of fats MP:0031022 hepatic megalocytosis a condition in which hepatocytes exhibit gross enlargement of cytoplasmic and nuclear volume without the formation of mitotic spindles and mitosis, potentially indicating irreversible injury MP:0031023 decreased susceptibility to Riboviria infection induced morbidity/mortality decreased likelihood that an organism will display the expected moribund state caused by a Riboviria iinfection or from components of or toxins produced by a virus from this Realm MP:0031024 increased susceptibility to Riboviria infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a Riboviria iinfection or from components of or toxins produced by a virus from this Realm MP:0031025 decreased susceptibility to Herpesvirales infection induced morbidity/mortality decreased likelihood that an organism will display the expected moribund state caused by a Herpesvirales infection or from components of or toxins produced by a virus from this Order MP:0031026 increased susceptibility to Herpesvirales infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a Herpesvirales infection or from components of or toxins produced by a virus from this Order MP:0031027 decreased susceptibility to Ortervirales infection induced morbidity/mortality decreased likelihood that an organism will display the expected moribund state caused by an Ortervirales infection or from components of or toxins produced by a virus from this Order MP:0031028 increased susceptibility to Ortervirales infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by an Ortervirales infection or from components of or toxins produced by a virus from this Order MP:0031029 decreased susceptibility to Parvoviridae infection induced morbidity/mortality decreased likelihood that an organism will display the expected moribund state caused by a Parvoviridae infection or from components of or toxins produced by a virus from this Family MP:0031030 increased susceptibility to Parvoviridae infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a Parvoviridae infection or from components of or toxins produced by a virus from this Family MP:0031031 decreased susceptibility to Hepadnaviridae infection induced morbidity/mortality decreased likelihood that an organism will display the expected moribund state caused by a Hepadnaviridae infection or from components of or toxins produced by a virus from this Family MP:0031032 increased susceptibility to Hepadnaviridae infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a Hepadnaviridae infection or from components of or toxins produced by a virus from this Family MP:0031033 decreased susceptibility to Poxviridae infection induced morbidity/mortality decreased likelihood that an organism will display the expected moribund state caused by a Poxviridae infection or from components of or toxins produced by a virus from this Family MP:0031034 increased susceptibility to Poxviridae infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a Poxviridae infection or from components of or toxins produced by a virus from this Family MP:0031035 decreased susceptibility to Adenoviridae infection induced morbidity/mortality decreased likelihood that an organism will display the expected moribund state caused by an Adenoviridae infection or from components of or toxins produced by a virus from this Family MP:0031036 increased susceptibility to Adenoviridae infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by an Adenoviridae infection or from components of or toxins produced by a virus from this Family MP:0031037 decreased susceptibility to Retroviridae infection induced morbidity/mortality decreased likelihood that an organism will display the expected moribund state caused by a Retroviridae infection or from components of or toxins produced by a virus from this Family MP:0031038 increased susceptibility to Retroviridae infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a Retroviridae infection or from components of or toxins produced by a virus from this Family MP:0031039 decreased susceptibility to Picornaviridae infection induced morbidity/mortality decreased likelihood that an organism will display the expected moribund state caused by a Picornaviridae infection or from components of or toxins produced by a virus from this Family MP:0031040 increased susceptibility to Picornaviridae infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a Picornaviridae infection or from components of or toxins produced by a virus from this Family MP:0031041 decreased susceptibility to Togaviridae infection induced morbidity/mortality decreased likelihood that an organism will display the expected moribund state caused by a Togaviridae infection or from components of or toxins produced by a virus from this Family MP:0031042 increased susceptibility to Togaviridae infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a Togaviridae infection or from components of or toxins produced by a virus from this Family MP:0031043 decreased susceptibility to Flaviviridae infection induced morbidity/mortality decreased likelihood that an organism will display the expected moribund state caused by a Flaviviridae infection or from components of or toxins produced by a virus from this Family MP:0031044 increased susceptibility to Flaviviridae infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a Flaviviridae infection or from components of or toxins produced by a virus from this Family MP:0031045 decreased susceptibility to Orthomyxoviridae infection induced morbidity/mortality decreased likelihood that an organism will display the expected moribund state caused by an Orthomyxoviridae infection or from components of or toxins produced by a virus from this Family MP:0031046 increased susceptibility to Orthomyxoviridae infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by an Orthomyxoviridae infection or from components of or toxins produced by a virus from this Family MP:0031047 decreased susceptibility to Coronaviridae infection induced morbidity/mortality decreased likelihood that an organism will display the expected moribund state caused by a Coronaviridae infection or from components of or toxins produced by a virus from this Family MP:0031048 increased susceptibility to Coronaviridae infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a Coronaviridae infection or from components of or toxins produced by a virus from this Family MP:0031049 decreased susceptibility to Paramyxoviridae infection induced morbidity/mortality decreased likelihood that an organism will display the expected moribund state caused by a Paramyxoviridae infection or from components of or toxins produced by a virus from this Family MP:0031050 increased susceptibility to Paramyxoviridae infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a Paramyxoviridae infection or from components of or toxins produced by a virus from this Family MP:0031051 lymph node hemorrhage bleeding into one or more lymph nodes MP:0031052 lymph node necrosis morphological changes resulting from pathological death of some or all lymph node tissue; usually due to irreversible damage MP:0031053 pleuritis local accumulation of fluid, plasma proteins, and leukocytes in the invaginated serous membrane that surrounds the lungs (visceral portion) and lines the walls of the pleural cavity (parietal portion) MP:0031054 bronchiolitis local accumulation of fluid, plasma proteins, and leukocytes in the noncartilaginous conducting airways of the lungs found terminal to the bronchi MP:0031055 bronchitis local accumulation of fluid, plasma proteins, and leukocytes in the bronchial tubes MP:0031056 bitter preference subjects demonstrate predilection for bitter tasting substances over other offered substances MP:0031057 low bitter preference subjects demonstrate a low predilection for bitter tasting substances over other offered substances MP:0031058 hepatosplenomegaly simultaneous enlargement of the liver and spleen MP:0031059 increased circulating C-reactive protein level abnormal elevation of the plasma protein that circulates in increased amounts during inflammation or after tissue damage and binds to phosphocholine expressed on the surface of dead or dying cells, including all types of pneumococci, in order to activate the complement system via the C1Q complex MP:0031060 decreased circulating C-reactive protein level abnormal reduction of the plasma protein that circulates in increased amounts during inflammation or after tissue damage and binds to phosphocholine expressed on the surface of dead or dying cells, including all types of pneumococci, in order to activate the complement system via the C1Q complex MP:0031061 abnormal erythrocyte sedimentation rate a deviation in the rate at which red blood cells (RBCs) descend under the influence of gravity in a vertical column of anticoagulated whole blood over a period of one hour; the rate at which RBCs settle out from the plasma is measured as the number of millimeters of clear plasma present at the top of the column after one hour (mm/hr); a non-specific measure of inflammation MP:0031062 decreased erythrocyte sedimentation rate a reduction in the rate at which red blood cells (RBCs) descend under the influence of gravity in a vertical column of anticoagulated whole blood over a period of one hour; a decreased rate may be seen in polycythemia or in certain blood diseases in which RBCs have an irregular or smaller shape that causes slower settling MP:0031063 increased erythrocyte sedimentation rate an increase in the rate at which red blood cells descend under the influence of gravity in a vertical column of anticoagulated whole blood over a period of one hour; an elevated rate may indicate inflammation or may be caused by any condition that elevates fibrinogen MP:0031064 abnormal circulating procalcitonin level any anomaly in the blood concentration of procalcitonin, a peptide precursor of the hormone calcitonin produced by parafollicular cells (C cells) of the thyroid and by the neuroendocrine cells of the lung and the intestine; the level of procalcitonin is virtually undetectable in the bloodstream of healthy individuals but can rise significantly in systemic bacterial infections and sepsis MP:0031065 increased circulating procalcitonin level greater concentration in the blood of procalcitonin, a peptide precursor of the hormone calcitonin produced by parafollicular cells (C cells) of the thyroid and by the neuroendocrine cells of the lung and the intestine; the level of procalcitonin is virtually undetectable in the bloodstream of healthy individuals but can rise significantly in systemic bacterial infections and sepsis; it does not rise significantly with viral or non-infectious inflammations MP:0031066 cytokine storm dysregulated and excessive cytokine and chemokine release in response to infection and other stimuli; can cause acute respiratory distress syndrome (ARDS) or multiple-organ dysfunction, leading to physiological deterioration and death MP:0031067 abnormal blood oxygen saturation level any anomaly in the amount of oxygen bound to hemoglobin in the blood expressed as a percentage of the maximal binding capacity MP:0031068 decreased blood oxygen saturation level a reduction in the amount of oxygen bound to hemoglobin in the blood expressed as a percentage of the maximal binding capacity MP:0031069 increased blood oxygen saturation level an increase in the amount of oxygen bound to hemoglobin in the blood expressed as a percentage of the maximal binding capacity MP:0031070 hemophagocytosis a pathologic process of engulfment of erythrocytes, leukocytes, platelets, and their precursors by histiocytes, either in the bone marrow or in other parts of the reticuloendothelial system; it is a nonspecific phenotypic feature observed in several conditions including hemolytic anemia, malignant disease, infections, and hemophagocytic syndrome (also known as hemophagocytic lymphohistiocytosis, a rare hyperinflammatory syndrome caused by severe hypercytokinemia due to a highly stimulated but ineffective immune process) MP:0031071 lymph node atrophy acquired diminution of the size of lymph node tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation MP:0031072 abnormal circulating type I collagen C-terminal telopeptide level any deviation from the normal amount of type I collagen C-terminal telopeptide (CTX) in the blood circulation; beta-CTX is released into the bloodstream during bone resorption and serves as a specific marker for the degradation of mature type I collagen MP:0031073 decreased circulating type I collagen C-terminal telopeptide level less than the normal amount of type I collagen C-terminal telopeptide (CTX) in the blood circulation; beta-CTX is released into the bloodstream during bone resorption and serves as a specific marker for the degradation of mature type I collagen MP:0031074 increased circulating type I collagen C-terminal telopeptide level greater than the normal amount of type I collagen C-terminal telopeptide (CTX) in the blood circulation; beta-CTX is released into the bloodstream during bone resorption and serves as a specific marker for the degradation of mature type I collagen; elevated serum levels of beta-CTX indicate increased bone resorption MP:0031075 abnormal circulating troponin level eviation from the normal concentration in the blood of troponin, a complex of three contractile regulatory proteins (troponin C, T and I) that control the calcium mediated interactions between actin and myosin in cardiac and skeletal muscles; in humans, cardiac-specific troponins I and T are regarded as the preferred biomarkers for the diagnosis of myocardial infarction due to their unique specificity for myocardial cell injury/necrosis MP:0031076 decreased circulating troponin level reduced concentration in the blood of troponin, a complex of three contractile regulatory proteins (troponin C, T and I) that control the calcium mediated interactions between actin and myosin in cardiac and skeletal muscles; in humans, cardiac-specific troponins I and T are regarded as the preferred biomarkers for the diagnosis of myocardial infarction due to their unique specificity for myocardial cell injury/necrosis MP:0031077 increased circulating troponin level increased concentration in the blood of troponin, a complex of three contractile regulatory proteins (troponin C, T and I) that control the calcium mediated interactions between actin and myosin in cardiac and skeletal muscles; in humans, elevated serum levels of cardiac-specific troponins (I and T) are highly sensitive and specific indicators of myocardial injury and used in the diagnosis of myocardial infarction MP:0031078 increased circulating troponin T level greater than the normal concentration in the blood of troponin T (TnT), a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin; elevated serum cardiac troponin T levels are highly sensitive and specific indicators of myocardial injury and used in the diagnosis of myocardial infarction MP:0031079 increased circulating troponin I level greater than the normal concentration in the blood of troponin I (TnI), a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin; elevated serum cardiac troponin I levels are highly sensitive and specific indicators of myocardial injury and used in the diagnosis of myocardial infarction MP:0031080 pulmonary embolism an embolus (an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung; usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery MP:0031081 abnormal circulating D-dimer level any anomaly in the concentration in the blood of this fibrin degradation product (FDP), a small protein fragment present in the blood after a blood clot is degraded by fibrinolysis; D-dimer constitutes two adjacent fibrin D domains that are cross-linked and released as an intact fragment MP:0031082 decreased circulating D-dimer level reduced concentration in the blood of this fibrin degradation product (FDP), a small protein fragment present in the blood after a blood clot is degraded by fibrinolysis MP:0031083 increased circulating D-dimer level increased concentration in the blood of this fibrin degradation product (FDP), a small protein fragment present in the blood after a blood clot is degraded by fibrinolysis; elevations can occur as a result of thrombotic disease (such as deep-vein thrombosis, pulmonary embolism or disseminated intravascular coagulation), in vasoocclusive crisis of sickle cell anemia, in malignancies, and in surgery MP:0031084 decreased erythrocyte osmotic fragility decreased propensity of erythrocytes to hemolyze when exposed to increasingly hypotonic saline solutions; seen in chronic liver disease, iron deficiency anemia, thalassemia, hyponatremia, polycythemia vera, and sickle cell anemia after splenectomy MP:0031085 increased erythrocyte osmotic fragility increased propensity of erythrocytes to hemolyze when exposed to increasingly hypotonic saline solutions; seen in hereditary spherocytosis, some forms of hemolytic anemia, and hypernatremia MP:0031086 wheezing a high-pitched whistling sound associated with labored breathing MP:0031087 abnormal pneumocyte desquamation any anomaly in the shedding of alveolar epithelial cells into the alveolar space in response to infection/injury MP:0031088 coughing a sudden expulsion of air through the large breathing passages that can help clear them of fluids, irritants, foreign particles and microbes; as a protective reflex, coughing can be repetitive with the cough reflex following three phases: an inhalation, a forced exhalation against a closed glottis, and a violent release of air from the lungs following opening of the glottis, usually accompanied by a distinctive sound MP:0031089 sneezing a semi-autonomous, convulsive expulsion of air from the lungs through the nose and mouth, usually caused by foreign particles irritating the nasal mucosa; a sneeze expels air forcibly from the mouth and nose in an explosive, audible, spasmodic involuntary action resulting chiefly from irritation of the nasal mucous membrane MP:0031090 ageusia complete absence or loss of the sense of taste, i.e. inability to detect sweetness, sourness, bitterness, saltiness, and umami (pleasant/savory taste) MP:0031091 hypogeusia partial loss of taste or reduced ability to detect sweetness, sourness, bitterness, saltiness and/or umami (pleasant/savory taste); may be general to all tastants, partial to some tastants, or specific to one or more tastants MP:0031092 dysgeusia a distortion or an alteration in the perception of a tastant; an unpleasant perception may occur when a normally pleasant taste is present, or the perception may occur when no tastant is present MP:0031093 multiple organ failure altered function in two or more organ systems during an acute illness such that homeostasis cannot be maintained without intervention MP:0031094 organomegaly abnormal enlargement of one or more visceral organs (internal organs enclosed in a cavity) of the body MP:0031095 pharyngitis local accumulation of fluid, plasma proteins and leukocytes in the pharynx, most often caused by viral or bacterial infections; less common causes include allergies, trauma, cancer, reflux, and certain toxins MP:0031096 conjunctival hyperemia abnormal dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera MP:0031097 conjunctival chemosis abnormal swelling (or edema) of the conjunctiva; in chemosis, the integrity of conjunctival capillaries is compromised, leading to increased permeability and leakage of serous fluid; causes include conjunctival irritation, infection, inflammation, trauma, and severe intraorbital inflammation MP:0031098 abnormal sputum production any anomaly in the amount of material expectorated (coughed up) from the respiratory system; sputum is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin in disease states MP:0031099 abnormal sputum morphology any anomaly in the gross appearance or other physical characteristics of sputum, that is, the material expectorated (coughed up) from the respiratory system, including its color, consistency, taste, and smell; sputum is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin in disease states MP:0031100 hemoptysis expectoration (coughing up) of blood or blood-tinged sputum from the lungs or tracheobronchial tree MP:0031101 nasal obstruction a blockage within the nasal cavity, resulting in insufficient airflow through the nose; causes of obstruction include swelling of the mucous membrane (nasal congestion), nasal polyps, nasopharyngeal carcinoma or foreign bodies MP:0031102 rhinorrhea increased discharge of fluid (typically a watery mucus fluid) from the nose; a common symptom of allergies or certain viral infections MP:0031103 skin rash an eruption in the skin which affects its appearance and/or texture; a rash may be localized to one part of the body, or affect all the skin; rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful MP:0031104 crackles fine, short, high-pitched, intermittently crackling sounds heard in a lung field that has fluid in the small airways; crackles are commonly heard in the bases of the lung lobes during inspiration; the cause of crackles can be from air passing through fluid, pus or mucus; crackles can be further categorised as coarse or fine: the sound quality of fine crackles is similar to the sound of hair rubbed between your fingers near the ear and may be heard in congestive heart failure and pulmonary fibrosis; coarse crackles are lower-pitched and moist-sounding, like pouring water out of a bottle or ripping open velcro, and are often a sign of adult respiratory distress syndrome (ARDS), early congestive heart failure, asthma and pulmonary edema MP:0031105 rhonchi continuous low-pitched, rattling lung sounds that often resemble snoring, frequently caused by obstruction or secretions in larger airways; they can be heard in chronic obstructive pulmonary disease (COPD), bronchiectasis, pneumonia, chronic bronchitis, or cystic fibrosis MP:0031106 abnormal susceptibility to pulmonary hyaline membrane formation a change in the likelihood that an organism will form an eosinophilic hyaline (glass-like) material composed of fibrin, proteinaceous exudate and cellular debris, and lining or filling the alveoli, alveolar ducts and bronchioles MP:0031107 abnormal circulating myoglobin level anomaly in the blood level of myoglobin, a low molecular weight oxygen binding heme protein that is normally found exclusively in heart and skeletal muscle cells; in blood, myoglobin is bound primarily to plasma globulins, a complex which is filtered by the kidneys; if the plasma concentration exceeds the plasma binding capacity, myoglobin begins to appear in the urine; monitoring myoglobin levels in blood (and urine) has been used as a means to detect skeletal or cardiac muscle cell injury MP:0031108 increased circulating myoglobin level increased blood level of myoglobin, a low molecular weight oxygen binding heme protein that is normally found exclusively in heart and skeletal muscle cells; in blood, myoglobin is bound primarily to plasma globulins, a complex which is filtered by the kidneys; if the plasma concentration exceeds the plasma binding capacity, myoglobin begins to appear in the urine; myoglobin is rapidly released into the bloodstream after muscle damage, and thus can be a useful biomarker in the early phases of heart or skeletal muscle injury MP:0031109 subarachnoid hemorrhage bleeding into the space between the arachnoid mater and the pia mater MP:0031110 meningitis local accumulation of fluid, plasma proteins, and leukocytes in the protective membranes (meninges) covering the brain and spinal cord, commonly caused by a bacterial or viral infection MP:0031111 meningoencephalitis local accumulation of fluid, plasma proteins, and leukocytes in the brain and its surrounding protective membranes (meninges) MP:0031112 rhabdomyolysis breakdown of skeletal muscle fibers leading to leakage of muscle contents into the bloodstream; damage to the sarcolemma results in loss of its intrinsic function, an influx of calcium, activation of intracellular proteases, and release of intracellular contents (e.g. myoglobin, creatine phosphokinase, aldolase, lactate dehydrogenase, aspartate transaminase, and potassium) into the circulation; common causes include trauma, prolonged exertion, hyperthermia, infections, electrolyte abnormalities, electrical current injury, drugs or toxins, and conditions that cause tissue hypoxia; complications may include acute renal failure, metabolic abnormalities, and disseminated intravascular congestion MP:0031113 pulmonary parenchymal consolidation replacement of alveolar air by fluid (exudate/transudate/blood), cells (inflammatory), tissue, or other material, rendering the pulmonary parenchyma airless; consolidated tissue is more radio-opaque than normally aerated lung parenchyma, so that it is clearly demonstrable in radiography and on CT scans MP:0031114 increased circulating gamma-glutamyl transferase level elevated blood level of the enzyme that catalyzes the transfer of gamma-glutamyl functional groups from molecules such as glutathione to an acceptor that may be an amino acid, a peptide or water (forming glutamate); GGT plays a key role in the gamma-glutamyl cycle, a pathway for the synthesis and degradation of glutathione as well as drug and xenobiotic detoxification; GGT is present in many organs throughout the body, with the highest concentrations found in liver, and elevated in the blood in most diseases that cause damage to the liver or bile ducts MP:0031115 macrovesicular hepatic steatosis a common form of hepatic steatosis characterized by the presence of large lipid droplets that displace the nucleus and organelles to the cell periphery in affected hepatocytes; may be caused by oversupply of lipids due to obesity, obstructive sleep apnea, insulin resistance, or alcoholism MP:0031116 microvesicular hepatic steatosis a less common form of hepatic steatosis characterized by accumulation of multiple small lipid droplets giving the cytoplasm a foamy appearance without displacing the nucleus in affected hepatocytes; causes include tetracyclines, acute fatty liver of pregnancy, Reye's syndrome, and hepatitis C MP:0031117 subdural hemorrhage bleeding into the subdural space, the potential space between the dura and arachnoid mater of the meninges around the brain MP:0031118 cardiovalvulitis local accumulation of fluid, plasma proteins, and leukocytes in one or more valves of the heart MP:0031119 pulmonary cavitation presence of an abnormal gas-filled space within a zone of pulmonary consolidation or within a pulmonary mass or nodule appearing as a lucency or low-attenuation area on plain chest radiography or computed tomography; a pulmonary cavity may contain a fluid level and is surrounded by a wall, usually of varied thickness MP:0031120 decreased susceptibility to induced thrombosis decreased frequency, rate or severity of thrombus formation following stimulation of thrombosis by an external agent MP:0031121 increased susceptibility to induced thrombosis increased frequency, rate or severity of thrombus formation following stimulation of thrombosis by an external agent MP:0031122 areflexia complete absence or loss of neurological reflexes MP:0031123 abnormal anterior longitudinal ligament morphology any structural anomaly of the strong, broad fibrous band that covers and connects the anterolateral aspects of the vertebral bodies and intervertebral (IV) discs; this ligament extends from the pelvic surface of the sacrum to the anterior tubercle of vertebra C1 (atlas) and the occipital bone anterior to the foramen magnum; it prevents hyperflexion of the vertebral column, maintaining stability of the joints between the vertebral bodies; it is the only ligament that limits extension; all other ligaments of the vertebral column, like the IV ligaments, limit forms of flexion MP:0031124 aortic valve inflammation local accumulation of fluid, plasma proteins, and leukocytes in the aortic valve MP:0031125 aspiration pneumonia pneumonia occurring after abnormal entry of material from the oral cavity or upper gastrointestinal tract into the lungs through the larynx; aspirated material can include saliva, nasopharyngeal secretions, bacteria, liquids, toxic substances, food, or gastric contents; can result in pulmonary complications by way of chemical pneumonitis, bacterial infection, or mechanical obstruction MP:0031126 gangrene necrosis or death of soft tissue due to lack of blood flow resulting from injury, infection or other conditions that affect blood circulation MP:0031127 dry gangrene a form of coagulative necrosis that develops in ischemic tissue, where the blood supply is inadequate to keep tissue viable, in the absence of superimposed microbial infection; can be due to peripheral artery disease or acute limb ischemia; the affected body part is dry, shrunken, and dark reddish-black and can fall off (autoamputate) if not removed surgically MP:0031128 cardiovascular shunt an abnormal communication (shunt) between the right and left sides of the heart or between the systemic and pulmonary vessels, allowing blood to flow directly from one circulatory system to the other; blood can either be shunted from the systemic circulation to pulmonary circulation (i.e. left-to-right shunt) or between the pulmonary circulation and systemic circulation (i.e. right-to-left shunt); rarely, the shunted blood returns to the same cardiac chamber without traversing a capillary bed (i.e. circular shunt); most commonly shunts are the result of congenital heart disease MP:0031129 left-to-right shunt a left-to-right shunt allows the oxygenated, pulmonary venous blood to return directly to the lungs rather than being pumped to the body thereby reducing the cardiac output by the amount of the shunted volume; as a result, tissue oxygen delivery is reduced MP:0031130 right-to-left shunt a right-to-left shunt allows the deoxygenated, systemic venous return to bypass the lungs and return directly to the systemic arterial circulation; the oxygen content of the systemic arterial blood falls in proportion to the volume of systemic venous blood mixing with the normal pulmonary venous return; with reduced oxygen content, even with normal cardiac output, tissue oxygen delivery falls and the work capacity of muscles is limited MP:0031131 myocardial fiber disarray loss of the normal parallel alignment of cardiac myocytes, whereby adjacent myocytes are arranged obliquely or perpendicularly to each other around foci of interstitial collagen (plexiform fibrosis) in a pinwheel or herringbone pattern; disarray is characterized by regions of architectural disorganization of hypertrophied myocytes and distinct nuclear changes MP:0031132 increased artery tortuosity increase in the degree of twisting of one or more arteries MP:0031133 increased aorta tortuosity increase in the degree of twisting of the aorta MP:0031134 increased carotid artery tortuosity increase in the degree of twisting of the common carotid artery and/or any of its arterial branches MP:0031135 increased coronary artery tortuosity increase in the degree of twisting of any of the arteries that branch from the ascending aorta to supply blood to the heart MP:0031136 muscle hemorrhage bleeding into one or more muscles MP:0031137 vaginal hemorrhage bleeding into the vagina MP:0031138 testicular hemorrhage bleeding into one or both testes MP:0031139 abnormal retina artery morphology any structural anomaly of the central retinal artery that branches off the ophthalmic artery, running inferior to the optic nerve within its dural sheath to the eyeball; this artery provides the majority of the retinal arterial supply except for the layer of cones and rods; it splits into multiple terminal branches within the ninth layer of retina, which then comprise a cobweb of retinal arterioles and capillaries that nourishes the inner retinal layers MP:0031140 increased retina artery tortuosity increase in the degree of twisting of the retinal artery MP:0031141 increased retina vascular tortuosity increase in the degree of twisting of any of the retinal blood vessels MP:0031142 retina artery stenosis abnormal narrowing or constriction of the retinal artery MP:0031143 retina artery occlusion blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina MP:0031144 abnormal retina arteriole morphology any structural anomaly of any of the retinal arterioles MP:0031145 retina arteriole stenosis abnormal narrowing or constriction of any of the retinal arterioles MP:0031146 retina arteriole occlusion blockage of any of the retinal arterioles, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina MP:0031147 abnormal ventricular thrombosis any anomaly in the formation or presence of one or more thrombi in the ventricles of the heart MP:0031148 abnormal liver sinusoidal endothelial cell morphology any structural anomaly of the endothelial cells that line the hepatic sinusoids, constituting the sinusoidal wall; these represent the most abundant non-parenchymal hepatic cell population, are characterized by the presence of fenestrae clustered in sieve plates and lacking a basement membrane, play roles in filtration, endocytosis, antigen presentation and leukocyte recruitment, and in combination with Kupffer cells, constitute a scavenger system in the body MP:0031149 abnormal susceptibility to thrombosis induced morbidity/mortality differences from the expected moribund state caused by thrombus formation following stimulation of thrombosis by an external agent MP:0031150 decreased susceptibility to thrombosis induced morbidity/mortality reduced likelihood that an organism will display the expected moribund state caused by thrombus formation following stimulation of thrombosis by an external agent MP:0031151 increased susceptibility to thrombosis induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by thrombus formation following stimulation of thrombosis by an external agent MP:0031152 subcutaneous hemorrhage bleeding below the skin MP:0031153 stomach hemorrhage bleeding into the stomach MP:0031154 intestinal hemorrhage bleeding into any segment of the small intestine and/or the large intestine MP:0031155 small intestine hemorrhage bleeding into any segment of the small intestine MP:0031156 large intestine hemorrhage bleeding into any segment the large intestine MP:0031157 abnormal arterial thrombosis any anomaly in the formation or presence of thrombi inside one or more arteries, causing the obstruction of blood flow MP:0031158 abnormal venous thrombosis any anomaly in the formation or presence of thrombi inside one or more veins, causing the obstruction of blood flow MP:0031159 abnormal hepatic portal vein thrombosis any anomaly in the formation or presence of thrombi inside the hepatic portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins MP:0031160 abnormal cerebral venous thrombosis any anomaly in the formation or presence of thrombi inside any cerebral vein, causing the obstruction of blood flow MP:0031161 abnormal kidney venous thrombosis any anomaly in the formation or presence of thrombi inside any kidney venous blood vessel, causing the obstruction of blood flow MP:0031162 abnormal vagina physiology any functional anomaly of the fibromuscular tubular tract leading from the uterus to the exterior of the body; it serves as a passageway for cervical mucus, menstrual fluid and other secretions out of the body; during sexual intercourse, it receives the penis and ejaculate, assisting in its transport to the uterus; during the birth process, it expands to provide a channel for delivery of a newborn from the uterus MP:0031163 abnormal circulating von Willebrand factor level any anomaly in the blood level of the large multimeric glycoprotein produced by vascular endothelial cells and megakaryocytes that chaperones blood coagulation cofactor factor VIII and tethers platelets to the injured blood vessel wall MP:0031164 decreased circulating von Willebrand factor level reduced blood level of the large multimeric glycoprotein produced by vascular endothelial cells and megakaryocytes that chaperones blood coagulation cofactor factor VIII and tethers platelets to the injured blood vessel wall MP:0031165 increased circulating von Willebrand factor level elevated blood level of the large multimeric glycoprotein produced by vascular endothelial cells and megakaryocytes that chaperones blood coagulation cofactor factor VIII and tethers platelets to the injured blood vessel wall MP:0031166 abnormal aortic valve commissure morphology any structural anomaly of the space or area between each anchored aortic valve leaflet to the aortic wall; the aortic valve is composed of 3 commissures that act as support to the base structure of the cusps MP:0031167 abnormal lung thrombosis any anomaly in the formation or presence of one or more thrombi within the blood vessel network of the lung MP:0031168 abnormal brain thrombosis any anomaly in the formation or presence of one or more thrombi within the blood vessel network of the brain MP:0031169 abnormal joint physiology any functional anomaly of any moveable articulation point of two or more bones MP:0031170 abnormal vasculature physiology any functional anomaly of any blood and/or lymphatic vessel MP:0031171 abnormal circulating zinc level any anomaly in the blood concentration of zinc MP:0031172 decreased circulating zinc level less than the normal concentration of zinc in the blood MP:0031173 increased circulating zinc level greater than the normal concentration of zinc in the blood MP:0031174 decreased mammary duct terminal end bud number reduced number of unique club-shaped epithelial structures formed at the tip of the mammary duct at the onset of puberty (approximately 3 weeks of age in mouse) under the action of circulating hormones; normally, TEBs proliferate, ramify, and actively invade the fad pad to allow the formation of a complex branching structure; this process of branching morphogenesis concludes at about 10-12 weeks of age in mouse, when TEBs have traversed the length of the fat pad and a fully developed ductal tree has formed MP:0031175 increased mammary duct terminal end bud number greater number of unique club-shaped epithelial structures formed at the tip of the mammary duct at the onset of puberty (approximately 3 weeks of age in mouse) under the action of circulating hormones; normally, TEBs proliferate, ramify, and actively invade the fad pad to allow the formation of a complex branching structure; this process of branching morphogenesis concludes at about 10-12 weeks of age in mouse, when TEBs have traversed the length of the fat pad and a fully developed ductal tree has formed; increase in TEBs is often associated with increased ductal outgrowth and branching morphogenesis MP:0031176 abnormal Descemet membrane thickness anomaly in the thickness of the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea MP:0031177 decreased Descemet membrane thickness reduced thickness of the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea MP:0031178 increased Descemet membrane thickness increased thickness of the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea MP:0031179 abnormal brain blood flow rate aberrant rate of blood flow in the blood vessels supplying the brain MP:0031180 decreased brain blood flow rate reduced rate of blood flow in the blood vessels supplying the brain MP:0031181 increased brain blood flow rate elevated rate of blood flow in the blood vessels supplying the brain MP:0031182 abnormal cerebral blood flow rate aberrant rate of blood flow in the blood vessels supplying the cerebral hemispheres MP:0031183 decreased cerebral blood flow rate reduced rate of blood flow in the blood vessels supplying the cerebral hemispheres MP:0031184 increased cerebral blood flow rate elevated rate of blood flow in the blood vessels supplying the cerebral hemispheres MP:0031185 sudden unexpected death in epilepsy sudden, unexpected death in an organism displaying seizures resulting from a persistent epileptogenic abnormality of the brain, with or without evidence for a seizure immediately preceding the death, in which there is no evidence of other disease, injury, or drowning that caused the death MP:0031186 abnormal retina horizontal cell density any anomaly of the density of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina MP:0031187 decreased retina horizontal cell density decrease of the density of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina MP:0031188 increased retina horizontal cell density increase of the density of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina MP:0031189 abnormal retina rod bipolar cell density any anomaly of the density of the bipolar cells that function in low light and transmit signals only through amacrine cells MP:0031190 decreased retina rod bipolar cell density decrease of the density of the bipolar cells that function in low light and transmit signals only through amacrine cells MP:0031191 increased retina rod bipolar cell density increase of the density of the bipolar cells that function in low light and transmit signals only through amacrine cells MP:0031192 coronary artery spasm a multi-factorial, transient, and abrupt reduction of luminal diameter of an epicardial coronary artery due to inappropriate constriction of coronary smooth muscle that can generate distal ischemia MP:0031193 pulmonary arterial medial hypertrophy increase in mass of the tunica media of the arteries in the pulmonary circulation MP:0031194 abnormal testicular artery morphology any structural anomaly of either of a paired branch of the abdominal aorta that supplies blood to the testis MP:0031195 decreased testicular artery wall-to-lumen ratio a decrease in the ratio of vascular wall thickness to luminal diameter in the testicular artery compared to controls MP:0031196 increased testicular artery wall-to-lumen ratio an increase in the ratio of vascular wall thickness to luminal diameter in the testicular artery compared to controls MP:0031197 calcified testicular artery pathologic deposition of calcium salts in the testicular artery, a branch of the abdominal aorta that supplies blood to the testis MP:0031198 retina inner nuclear layer degeneration a retrogressive impairment or destruction of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells MP:0031199 decreased aortic weight decrease in the average weight of the aorta MP:0031200 increased aortic weight increase in the average weight of the aorta MP:0031201 hemiparesis mild loss of strength in the limb(s) and sometimes face on one side of the body MP:0031202 hemiplegia severe or complete loss of muscle function (paralysis) in the limb(s) and in some cases the face on one side of the body MP:0031203 forelimb paresis mild loss of strength in one or both of the forelimbs MP:0031204 hindlimb paresis mild loss of strength in one or both of the hindlimbs MP:0031205 decreased circulating phytosterol level decrease in the amount of phytosterols in the blood; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol MP:0031206 hypolipidemia abnormally low concentration of lipids in the circulating blood MP:0031207 decreased lymphocyte chemotaxis reduction in the directed movement of a lymphocyte in response to an external stimulus MP:0031208 increased lymphocyte chemotaxis increase in the directed movement of a lymphocyte in response to an external stimulus MP:0031209 enlarged cauda epididymis increase in the average size of the tail of the epididymis MP:0031210 small cauda epididymis decrease in the average size of the tail of the epididymis MP:0031211 small corpus epididymis decrease in the average size of the body of the epididymis MP:0031212 decreased eye anterior chamber depth reduced distance between the iris and the cornea at the center plane (maximum distance) of the eye anterior chamber compared to controls MP:0031213 increased eye anterior chamber depth increased distance between the iris and the cornea at the center plane (maximum distance) of the eye anterior chamber compared to controls MP:0031214 hypercoagulability a state or condition marked by an increased tendency to form blood clots within a blood vessel(s) MP:0031215 abnormal response to myocardial ischemic injury altered response to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of the myocardium MP:0031216 decreased susceptibility to myocardial ischemic injury less severe response, such as decreased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of the myocardium compared to controls MP:0031217 increased susceptibility to myocardial ischemic injury more severe response, such as increased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of the myocardium compared to controls MP:0031218 abnormal circulating CXCL10 level deviation from the normal blood levels of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3; it is involved in a variety of processes including chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects, and plays an important role during viral infections by stimulating the activation and migration of immune cells to infected sites MP:0031219 decreased circulating CXCL10 level reduction in the blood levels of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3; this chemokine is involved in a variety of processes including chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects, and plays an important role during viral infections by stimulating the activation and migration of immune cells to infected sites MP:0031220 increased circulating CXCL10 level elevation in the blood levels of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3; this chemokine is involved in a variety of processes including chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects, and plays an important role during viral infections by stimulating the activation and migration of immune cells to infected sites MP:0031221 abnormal CXCL10 secretion anomaly in the production or cellular release of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3 MP:0031222 decreased CXCL10 secretion reduction in the production or cellular release of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3 MP:0031223 increased CXCL10 secretion increase in the production or cellular release of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3 MP:0031224 abnormal CXCL10 level deviation from the normal levels of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3; it is involved in a variety of processes including chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects, and plays an important role during viral infections by stimulating the activation and migration of immune cells to infected sites MP:0031225 decreased CXCL10 level reduction in the amount of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3 MP:0031226 increased CXCL10 level increase in the amount of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3 MP:0031227 abnormal angiotensin II level any anomaly in the concentration of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone MP:0031228 decreased angiotensin II level reduced concentration of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone MP:0031229 increased angiotensin II level increased concentration of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone MP:0031230 abnormal circulating angiotensin II level aberrant concentration in the blood of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone MP:0031231 decreased circulating angiotensin II level reduced concentration in the blood of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone MP:0031232 increased circulating angiotensin II level increased concentration in the blood of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone MP:0031233 decreased circulating serum amyloid protein level reduced levels in the blood of an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis MP:0031234 increased circulating serum amyloid protein level elevated levels in the blood of an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis MP:0031235 decreased cecum weight reduction in the weight of the large sac at the ileum and large intestine junction MP:0031236 increased cecum weight increase in the weight of the large sac at the ileum and large intestine junction MP:0031237 diffuse alveolar damage a common histological injury pattern of the lung, whereby the early stages are characterized by epithelial cell necrosis and sloughing, fibrous exudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli and resulting in impaired gas exchange; in later stages, alveolar type II cells and myofibroblasts proliferate within the interstitium and airspaces; the corresponding clinical entity is ARDS (acute respiratory distress syndrome) MP:0031238 reactive type II pneumocyte hyperplasia alteration to type II pneumocytes following lung injury that results in increased numbers of these cells occurring in clusters and having morphological alterations including: cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin MP:0031239 increased atretic ovarian follicle number increase in the number of degenerated immature ovarian follicles MP:0031240 abnormal CSF3 level deviation from the normal levels of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways MP:0031241 decreased CSF3 level reduction in the amount of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways MP:0031242 increased CSF3 level increase in the amount of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways MP:0031243 abnormal circulating CSF3 level deviation from the normal blood levels of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways MP:0031244 decreased circulating CSF3 level reduction in the blood levels of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways MP:0031245 increased circulating CSF3 level increase in the blood levels of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways MP:0031246 abnormal CCL3 level deviation from the normal levels of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation MP:0031247 decreased CCL3 level reduction in the amount of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation MP:0031248 increased CCL3 level increase in the amount of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation MP:0031249 abnormal circulating CCL3 level deviation from the normal blood levels of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation MP:0031250 decreased circulating CCL3 level reduction in the blood levels of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation MP:0031251 increased circulating CCL3 level increase in the blood levels of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation MP:0031252 abnormal physiological response to hypoxia any anomaly in the expected physiological response of a cell or an organism to reduced tissue levels of oxygen resulting from either internal or external changes in oxygen levels MP:0031253 lordokyphosis a combination of kyphosis and lordosis MP:0031254 decreased vitamin C level any concentration below the normal range of L-ascorbic acid (vitamin C), which is a common co-factor and has anti-oxidant activities in many species MP:0031255 increased vitamin C level any concentration above the normal range of L-ascorbic acid (vitamin C), which is a common co-factor and has anti-oxidant activities in many species MP:0031256 abnormal circulating vitamin C level any anomaly in the concentration of L-ascorbic acid (vitamin C) in the blood MP:0031257 decreased circulating vitamin C level reduced concentration of L-ascorbic acid (vitamin C) in the blood MP:0031258 increased circulating vitamin C level increased concentration of L-ascorbic acid (vitamin C) in the blood MP:0031259 abnormal liver vitamin C level any anomaly in the concentration of L-ascorbic acid (vitamin C) in the liver MP:0031260 decreased liver vitamin C level reduced concentration of L-ascorbic acid (vitamin C) in the liver MP:0031261 increased liver vitamin C level increased concentration of L-ascorbic acid (vitamin C) in the liver MP:0031262 abnormal vitamin K level any anomaly in the concentration of any of the forms of vitamin K, quinone-derived vitamins which are involved in the synthesis of blood-clotting factors in mammals; vitamin K substances share a methylated naphthoquinone ring structure and vary in the aliphatic side chains attached to the molecule MP:0031263 decreased vitamin K level reduced concentration of any of the forms of vitamin K, quinone-derived vitamins which are involved in the synthesis of blood-clotting factors in mammals MP:0031264 increased vitamin K level increased concentration of any of the forms of vitamin K, quinone-derived vitamins which are involved in the synthesis of blood-clotting factors in mammals MP:0031265 increased susceptibility to hepatic steatosis more likely than normal to develop hepatic steatosis MP:0031266 decreased susceptibility to alcohol-induced hepatic steatosis less likely than normal to develop hepatic steatosis following acute or chronic alcohol administration MP:0031267 increased susceptibility to alcohol-induced hepatic steatosis more likely than normal to develop hepatic steatosis following acute or chronic alcohol administration MP:0031268 decreased susceptibility to diet-induced hepatic steatosis less likely than normal to develop diet-induced hepatic steatosis MP:0031269 increased susceptibility to diet-induced hepatic steatosis more likely than normal to develop diet-induced hepatic steatosis MP:0031270 decreased susceptibility to age-related hepatic steatosis less likely than normal to develop hepatic steatosis that is progressive with age MP:0031271 increased susceptibility to age-related hepatic steatosis more likely than normal to develop hepatic steatosis that is progressive with age MP:0031272 abnormal susceptibility to induced aneurysm formation any anomaly in the frequency, rate or severity of aneurysm formation following experimental induction of heart or vessel wall weakening by chemical and/or physical means MP:0031273 decreased susceptibility to induced aneurysm formation decreased frequency, rate or severity of aneurysm formation following experimental induction of heart or vessel wall weakening by chemical and/or physical means MP:0031274 increased susceptibility to induced aneurysm formation increased frequency, rate or severity of aneurysm formation following experimental induction of heart or vessel wall weakening by chemical and/or physical means MP:0031275 abnormal heme metabolism any anomaly in the chemical reactions and pathways involving heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring MP:0031276 abnormal stress erythropoiesis any anomaly in the process by which erythroid output is increased in response to anemic stress MP:0031277 pectus carinatum a congenital deformity of the anterior chest wall characterized by outward protrusion of the sternum and/or adjacent ribs MP:0031278 decreased osteosarcoma incidence less than the expected number of a malignant neoplasm derived form mesenchymal stem cells, osteoblasts or osteocytes, occurring in a specific population in a given time period; osteosarcoma is a highly invasive and destructive tumor rising in the skeleton with osteoid and immature woven bone MP:0031279 abnormal susceptibility to aneurysm induced morbidity/mortality differences from the expected moribund state caused by aneurysm rupture following experimental induction of heart or vessel wall weakening by chemical and/or physical means MP:0031280 decreased susceptibility to aneurysm induced morbidity/mortality reduced likelihood that an organism will display the expected moribund state caused by aneurysm rupture following experimental induction of heart or vessel wall weakening by chemical and/or physical means MP:0031281 increased susceptibility to aneurysm induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by aneurysm rupture following experimental induction of heart or vessel wall weakening by chemical and/or physical means MP:0031282 decreased enchondroma incidence less than the expected number of benign lobulated neoplasms of hyaline cartilage occurring in bones of endochondral origin, in a specific population in a given time period; enchondromas are usually solitary, intramedullary lesions commonly found in the short tubular bones of the hands and feet, distal femur, and proximal humerus MP:0031283 increased enchondroma incidence greater than the expected number of benign lobulated neoplasms of hyaline cartilage occurring in bones of endochondral origin, in a specific population in a given time period; enchondromas are usually solitary, intramedullary lesions commonly found in the short tubular bones of the hands and feet, distal femur, and proximal humerus MP:0031284 abdominal situs abnormality an abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs MP:0031285 external auditory canal stenosis abnormal narrowing or constriction of the external auditory canal MP:0031286 unilateral cryptorchism failure of one of the testes to descend into the scrotum MP:0031287 bilateral cryptorchism failure of both testes to descend into the scrotum MP:0031288 long eyelid cilia increased length of any of the hairs that grow at the edge of the upper or lower eyelid MP:0031289 unilateral microphthalmia reduced average size of one eye; generally refers to a congenital defect MP:0031290 bilateral microphthalmia reduced average size of both eyes; generally refers to a congenital defect MP:0031291 pes valgus an outward deviation of the foot at the talocalcaneal or subtalar joint MP:0031292 increased facial hemangioma incidence greater than the expected number of benign tumors characterized by blood-filled spaces lined by benign endothelial cells in the face, occurring in a specific population in a given time period MP:0031293 decreased facial hemangioma incidence less than the expected number of benign tumors characterized by blood-filled spaces lined by benign endothelial cells in the face, occurring in a specific population in a given time period MP:0031294 penile hypospadia a form of male hypospadia where the opening of the male urethra is located on the inferior aspect of the penis MP:0031295 glanular hypospadia the mildest and most common form of male hypospadias where the opening of the male urethra is located on the head of the penis, but not at the tip MP:0031296 penoscrotal hypospadia a severe form of male hypospadia where the opening of the male urethra is located where the shaft of the penis meets the scrotum MP:0031297 midshaft hypospadia a form of male hypospadia where the opening of the male urethra is located in the middle of the inferior shaft of the penis MP:0031298 coronal hypospadia a form of male hypospadia where the opening of the male urethra is located at the corona glandis MP:0031299 subcoronal hypospadia a form of male hypospadia where the opening of the male urethra is located at the junction of the corona and the body of the penis MP:0031300 perineal hypospadia a form of male hypospadia where the scrotum is abnormally divided (bifid) and the male urethral opening is located in the perineal region along the center of the divided sac MP:0031301 chronic liver inflammation persistent inflammatory response in the liver, often caused by persistent infection or during an autoimmune response MP:0031302 syncope a transient loss of consciousness due to cerebral hypoperfusion with spontaneous return to baseline function without intervention MP:0031303 enhanced behavioral response to methamphetamine increased sensitivity to methamphetamine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response MP:0031304 impaired behavioral response to methamphetamine decreased sensitivity to methamphetamine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response MP:0031305 preauricular skin tag a rudimentary tag of skin, that may also contain cartilage or fat, located in front of the auricle (outer part of the ear) MP:0031306 abnormal cartilage physiology any functional anomaly of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life MP:0031307 bronchomalacia a condition characterized by flaccidity of the bronchial support cartilage MP:0031308 tracheobronchomalacia a condition characterized by flaccidity of the tracheal and bronchial support cartilage MP:0031309 skin cyst presence of one or more abnormal membranous sacs in any portion of the skin MP:0031310 abnormal cyst presence of one or more abnormal membranous sacs in one or more organs or tissues of the body MP:0031312 spondylolysis a bony defect or stress fracture within the pars interarticularis of the vertebral arch in the spinal column; pars interarticularis is the part of a vertebra located between the inferior and superior articular processes of the facet joint MP:0031313 spondylolisthesis a condition of the spine whereby one of the vertebra slips forward or backward in relation to the next vertebra; forward slippage of an upper vertebra on a lower vertebra is referred to as anterolisthesis, while backward slippage is referred to as retrolisthesis MP:0031314 facial muscle weakness reduced strength of one or more of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) MP:0031315 biliary atresia one or more bile ducts inside or outside the liver are abnormally narrow, blocked, or absent MP:0031316 lentiglobus globular projection of the anterior or posterior surface of the lens MP:0031317 spherophakia a developmental defect in which a smaller, more spherical optic lens than normal is formed, with partial or complete aplasia of the zonule MP:0031318 enhanced skeletal muscle regeneration increase in the renewal, repair, and/or regrowth of skeletal muscle tissue following injury or disease MP:0031319 impaired intestine regeneration decrease in the renewal, repair, and/or regrowth of intestinal tissue following injury or disease MP:0031320 enhanced intestine regeneration increase in the renewal, repair, and/or regrowth of intestinal tissue following injury or disease MP:0031321 enhanced cardiac muscle regeneration increase in the renewal, repair, and/or regrowth of cardiac muscle tissue following injury or disease MP:0031322 decreased skeletal muscle satellite cell proliferation reduction in the expansion rate of a skeletal muscle satellite cell population by cell division MP:0031323 increased skeletal muscle satellite cell proliferation increase in the expansion rate of a skeletal muscle satellite cell population by cell division MP:0031324 delayed liver regeneration late onset of the renewal, repair, and/or regrowth of liver tissue following injury or disease MP:0031325 delayed pancreas regeneration late onset of the renewal, repair, and/or regrowth of pancreatic tissue following injury or disease MP:0031326 delayed muscle regeneration late onset of the renewal, repair, and/or regrowth of muscle tissue following injury or disease MP:0031327 delayed cardiac muscle regeneration late onset of the renewal, repair, and/or regrowth of cardiac muscle tissue following injury or disease MP:0031328 delayed skeletal muscle regeneration late onset of the renewal, repair, and/or regrowth of skeletal muscle tissue following injury or disease MP:0031329 delayed central nervous system regeneration late onset of the renewal, repair, and/or regrowth of central nervous system tissue following injury or disease MP:0031330 delayed peripheral nervous system regeneration late onset of the renewal, repair, and/or regrowth of peripheral nervous system tissue following injury or disease MP:0031331 delayed intestine regeneration late onset of the renewal, repair, and/or regrowth of intestinal tissue following injury or disease MP:0031332 abnormal inhibitory postsynaptic current amplitude anomaly in the size (height or maximum displacement) or shape of the evoked inhibitory postsynaptic current wave MP:0031333 decreased inhibitory postsynaptic current amplitude reduction in the size (height or maximum displacement) of the evoked inhibitory postsynaptic current wave MP:0031334 increased inhibitory postsynaptic current amplitude increase in the size (height or maximum displacement) of the evoked inhibitory postsynaptic current wave MP:0031336 abnormal uterine epithelium development any anomaly in the progression of an epithelium of the uterus over time from its initial formation to the mature structure MP:0031337 abnormal lipocalin 2 level any anomaly in the amount of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores MP:0031338 decreased lipocalin 2 level reduction in the amount of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores MP:0031339 increased lipocalin 2 level increase in the amount of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores MP:0031340 abnormal circulating lipocalin 2 level any anomaly in the amount in the blood of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores MP:0031341 decreased circulating lipocalin 2 level reduction in the amount in the blood of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores MP:0031342 increased circulating lipocalin 2 level increase in the amount in the blood of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores MP:0031343 colon atresia congenital blockage or absence of the lumen of the colon MP:0031344 aortic bulb aneurysm a protruding sac formed by the dilation of the wall of the aortic bulb resulting from a weakening of the vessel wall MP:0031345 developmental cataract a lens opacity that is present before or at birth MP:0031346 abnormal eye vasculature morphology any anomaly of the structure or arrangement of blood vessels supplying the eye MP:0031347 red eye a condition where the white part of the eye (sclera) appears reddened or bloodshot, ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera MP:0031348 bone fibrous dysplasia normal bone and marrow is replaced with scar-like (fibrous) connective tissue, resulting in formation of bone that is weak and prone to expansion MP:0031349 monostotic fibrous dysplasia a form of fibrous dysplasia affecting one solitary bone MP:0031350 polyostotic fibrous dysplasia a form of fibrous dysplasia affecting multiple bones throughout the body MP:0031351 abnormal sperm flagellum thickness any anomaly in the distance across the short axis of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility MP:0031352 absent sperm axonemal central pair missing the central pair of microtubules in the sperm axoneme, thereby forming a 9 + 0 pattern instead of the normal 9 + 2 pattern MP:0031353 abnormal testis apoptosis change in the timing or the number of cells in testicular tissue undergoing programmed cell death MP:0031354 abnormal acrosome assembly any anomaly in the formation of the acrosome from the spermatid Golgi MP:0031355 abnormal proacrosomal vesicle fusion any anomaly in the fusion of the membrane of a proacrosomal vesicle with the membrane of another proacrosomal vesicle to form a single large acrosomal granule at the nuclear surface MP:0031356 abnormal outer dense fiber morphology any structural anomaly of the highly condensed, modified intermediate cytoskeletal filaments strengthened by disulfide linked keratin proteins that progress from the midpiece to the principal piece of the sperm tail; outer dense fibers are believed to maintain flagellar elasticity and play a role in the protection of the sperm tail against shear forces during epididymal transport and ejaculation MP:0031357 enlarged prostate gland ventral lobe increased size of the rodent prostate lobe that is located below the ventral aspect of the bladder neck MP:0031358 decreased urine output a reduction in the volume of urine produced and excreted or the absence of urine production and excretion MP:0031359 decreased prostate gland anterior lobe weight reduction in the average weight of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles MP:0031360 prostate gland anterior lobe hypoplasia decrease in the number of normal cells in normal arrangement in the prostate gland anterior lobe, typically resulting in decreased size MP:0031361 increased prostate gland anterior lobe weight increase in the average weight of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles MP:0031362 decreased prostate gland ventral lobe weight reduction in the average weight of the rodent prostate lobe that is located below the ventral aspect of the bladder neck MP:0031363 prostate gland ventral lobe hypoplasia decrease in the number of normal cells in normal arrangement in the prostate gland ventral lobe, typically resulting in decreased size MP:0031364 increased prostate gland ventral lobe weight increase in the average weight of the rodent prostate lobe that is located below the ventral aspect of the bladder neck MP:0031365 prostate gland ventral lobe hyperplasia increase in the number of normal cells in normal arrangement in the prostate gland ventral lobe, typically resulting in increased size MP:0031366 decreased prostate gland dorsolateral lobe weight reduction in the average weight of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle MP:0031367 prostate gland dorsolateral lobe hypoplasia decrease in the number of normal cells in normal arrangement in the prostate gland dorsolateral lobe, typically resulting in decreased size MP:0031368 increased prostate gland dorsolateral lobe weight increase in the average weight of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle MP:0031369 prostate gland dorsolateral lobe hyperplasia increase in the number of normal cells in normal arrangement in the prostate gland dorsolateral lobe, typically resulting in increased size MP:0031372 abnormal sperm individualization anomaly in the resolution of the male germline syncytium or cyst into individual gametes by packaging each spermatid into its own plasma membrane MP:0031373 abnormal manchette perinuclear ring morphology any structural morphology of the ring-like portion of the manchette that surrounds the base of the elongating spermatid nucleus below the acroplaxome marginal ring and plays a key role in shaping the nucleus and the sperm head; microtubules extend from the perinuclear ring into the cytoplasm and/or basal body of the spermatid MP:0031374 abnormal manchette assembly any anomaly in the aggregation, arrangement and/or bonding together of a set of components to form a manchette MP:0031375 abnormal manchette disassembly any anomaly in the disaggregation of a manchette into its constituent components MP:0031376 abnormal acrosomal vesicle exocytosis anomaly in the calcium ion regulated exocytosis which results in fusion of the acrosomal vesicle with the plasma membrane of the sperm as part of the acrosome reaction MP:0031377 ambiguous external genitalia an external genital phenotype that is not clearly assignable to a single sex MP:0031378 ambiguous external male genitalia ambiguous external genitalia in an organism with XY genetic sex MP:0031379 ambiguous external female genitalia ambiguous external genitalia in an organism with XX genetic sex MP:0031380 abnormal secondary ovarian follicle number abnormal numbers of the maturing ovarian follicle that has two or more layers of granulosa cells but lacks antra MP:0031381 decreased secondary ovarian follicle number fewer than normal numbers of the maturing ovarian follicle that has two or more layers of granulosa cells but lacks antra MP:0031382 absent secondary ovarian follicles absence of the maturing ovarian follicle that has two or more layers of granulosa cells but lacks antra MP:0031383 increased secondary ovarian follicle number greater than normal numbers of the maturing ovarian follicle that has two or more layers of granulosa cells but lacks antra MP:0031384 impaired blood-brain barrier function reduced ability of the group of barriers and transport systems in the brain capillary endothelium to control the entry of substances into the brain extracellular space from the blood MP:0031385 enhanced blood-brain barrier function increased ability of the group of barriers and transport systems in the brain capillary endothelium to control the entry of substances into the brain extracellular space from the blood MP:0031386 elongated manchette increased distance between the perinuclear ring of the manchette and the posterior portion of the spermatid nucleus MP:0031387 abnormal intramanchette transport anomaly in the movement of vesicles and protein complexes carried out by molecular motors, kinesins and dynein, along the microtubule tracks within the manchette and by myosin along actin filaments MP:0031388 absent manchette absence of the conic array of microtubules that invests the posterior nucleus of a spermatid and is believed to play a role in definitive posterior head-shaping events during spermiogenesis MP:0031389 abnormal ectoplasmic specialization morphology any structural anomaly of the testis-specific adheren junctions that are present during the seminiferous epithelial cycle of spermatogenesis at the Sertoli-Sertoli cell interface (known as the basal ES at the blood-testis barrier) or at the Sertoli-elongating spermatid interface (known as the apical ES in the adluminal compartment) MP:0031390 myometrium hyperplasia increase in the number of normal cells in normal arrangement in the myometrium, typically resulting in increased size MP:0031391 increased locomotor activity general increase in locomotor activity; increased movement from one place to another MP:0031392 hypoactivity general reduction in the movement of the body or any of its parts MP:0031393 abnormal bicarbonate homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of bicarbonate within the body or between a cell and its external environment; bicarbonate is a polyatomic anion with the chemical formula HCO3- that serves a crucial role in the physiological pH buffering system MP:0031394 abnormal bicarbonate level any anomaly in the concentration of bicarbonate in the body MP:0031395 cutaneous mastocytosis presence of excess mast cell numbers in any portion of the skin MP:0031396 abnormal aspartoacylase level any anomaly in the concentration of the enzyme that catalyzes the reaction: N-acyl-L-aspartate + H2O = a fatty acid anion + L-aspartate MP:0031397 increased aspartoacylase level elevated concentration of the enzyme that catalyzes the reaction: N-acyl-L-aspartate + H2O = a fatty acid anion + L-aspartate MP:0031398 decreased aspartoacylase level reduced concentration of the enzyme that catalyzes the reaction: N-acyl-L-aspartate + H2O = a fatty acid anion + L-aspartate MP:0031399 early balanopreputial separation the separation of the prepuce from the glans penis (balanus), a result of the cornification of the balano-preputial epithelium, occurs at an earlier than expected age MP:0031400 decreased esophagus squamous cell carcinoma incidence less than the expected number of esophageal carcinomas derived from stratified squamous epithelium, occurring in a specific population in a given time period MP:0031401 increased esophagus squamous cell carcinoma incidence greater than the expected number of esophageal carcinomas derived from stratified squamous epithelium, occurring in a specific population in a given time period MP:0031402 decreased muscle fatigability decreased muscle exhaustion or decreased susceptibility to muscle exhaustion MP:0031404 increased tubuloglomerular feedback response enhancement of the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa MP:0031405 abnormal Sertoli cell proliferation any anomaly in the ability of a Sertoli cell population to undergo expansion by cell division MP:0031406 decreased Sertoli cell proliferation reduction in the expansion rate of a Sertoli cell population by cell division MP:0031407 increased Sertoli cell proliferation increase in the expansion rate of a Sertoli cell population by cell division MP:0031408 multi-headed sperm presence of more than one heads per sperm cell MP:0031409 double-headed sperm presence of two heads per sperm cell MP:0031410 biflagellated sperm presence of two flagella per sperm cell MP:0031411 increased ovulation rate increase in the frequency in which an ovum (or ova) is/are released from a rupturing ovarian follicle(s) MP:0031412 abnormal muscle triglyceride level any anomaly in the concentration of naturally occurring esters of three fatty acids and glycerol in muscle tissue MP:0031413 abnormal skeletal muscle triglyceride level any anomaly in the concentration of naturally occurring esters of three fatty acids and glycerol in skeletal muscle tissue MP:0031414 decreased skeletal muscle triglyceride level less than the normal concentration of naturally occurring esters of three fatty acids and glycerol in skeletal muscle tissue MP:0031415 increased skeletal muscle triglyceride level greater than the normal concentration of naturally occurring esters of three fatty acids and glycerol in skeletal muscle tissue MP:0031416 abnormal cardiac muscle triglyceride level any anomaly in the concentration of naturally occurring esters of three fatty acids and glycerol in heart muscle MP:0031417 decreased cardiac muscle triglyceride level less than the normal concentration of naturally occurring esters of three fatty acids and glycerol in heart muscle MP:0031418 increased cardiac muscle triglyceride level greater than the normal concentration of naturally occurring esters of three fatty acids and glycerol in heart muscle MP:0031419 delayed estrus increase in the time between the estrus phases of the estrous cycle in females MP:0031420 decreased superovulation rate decreased ability of a female to be induced to ovulate resulting in fewer than the expected number of ova after treatment with specific gonadotrophic hormones MP:0031421 increased superovulation rate increased ability of a female to be induced to ovulate resulting in greater than the expected number of ova after treatment with specific gonadotrophic hormones MP:0031422 failure of superovulation inability of a female to be induced to ovulate after treatment with specific gonadotrophic hormones MP:0031423 abnormal luteolysis any anomaly in the structural and functional degradation of the corpus luteum occurring at the end of the luteal phase of both the estrous and menstrual cycles in the absence of pregnancy; during normal luteolysis, loss of the capacity to synthesize and secrete progesterone (functional luteolysis) is followed by loss of the cells that comprise the corpus luteum (structural luteolysis) MP:0031424 enhanced female fertility increased physiological ability of a female organism to produce live offspring MP:0031425 enhanced male fertility increased physiological ability of a male organism to produce live offspring MP:0031426 increased sperm motility increased mobility of the spermatozoa MP:0031427 increased sperm progressive motility increase in the ability of sperm to move in a more or less straight line MP:0031428 lens dislocation partial or complete displacement of the crystalline lens of the eye out of its normal position MP:0031429 lens luxation complete displacement of the crystalline lens of the eye out of its normal position MP:0031430 lens subluxation partial displacement of the crystalline lens of the eye out of its normal position MP:0031431 increased spongiotrophoblast cell number increase in the number of trophoblast cells that arise in the junctional zone of the placenta MP:0031432 cornea perforation a puncture or hole through the cornea stroma resulting from various diseases or trauma MP:0031433 decreased miscarriage rate decrease in the frequency of a natural or accidental termination of a pregnancy at a stage where the embryo or the fetus is incapable of surviving independently of the mother MP:0031434 increased miscarriage rate increase in the frequency of a natural or accidental termination of a pregnancy at a stage where the embryo or the fetus is incapable of surviving independently of the mother MP:0031435 abnormal copulatory plug biosynthesis any anomaly in the reactions and pathways involved in the formation of a copulatory plug; typically, plugs are formed by coagulation of ejaculated proteins to form a solid mass within the female reproductive tract MP:0031436 decreased copulatory plug deposition decrease in the number of copulatory plugs deposited in a study population of females by a male(s) at the termination of copulation MP:0031437 increased copulatory plug deposition increase in the number of copulatory plugs deposited in a study population of females by a male(s) at the termination of copulation MP:0031438 abnormal sperm radial spoke morphology any structural anomaly of the T-shaped protein complex that links an outer microtubule doublet of the sperm flagellum axoneme with the sheath that surrounds the central pair of microtubules; it is composed of a stalk that attaches to each doublet microtubule and a globular structure (spoke head) that projects toward the central pair of microtubules MP:0031439 small lymphatic vessel decreased size of the lymphatic vessels which form a network that carries lymph around the body MP:0031440 lymphatic vessel hypoplasia decrease in the number of normal cells in normal arrangement in the lymphatic vessels, typically resulting in decreased size MP:0031441 increased periocular mesenchyme apoptosis increase in the number of cells of the periocular mesenchyme undergoing programmed cell death MP:0031442 enlarged cerebral aqueduct increased size of the channel in the mesencephalon that connects the third and fourth ventricles MP:0031443 abnormal tongue position atypical location or placement of the tongue in the oral cavity MP:0031444 glossoptosis downward or posterior displacement of the tongue toward the pharynx MP:0031445 midline cleft upper lip a vertical cleft through the center of the upper lip MP:0031446 non-midline cleft upper lip a cleft of the upper lip affecting the lateral portions rather than the center (midline/median region) of the upper lip MP:0031447 unilateral cleft upper lip a non-midline cleft occurring on only one side of the upper lip MP:0031448 bilateral cleft upper lip a non-midline cleft occurring on both sides of the upper lip MP:0031449 abnormal nasal cartilage morphology any structural abnormality of any of the cartilaginous elements formed from hyaline cartilage that provide form and support to the nose MP:0031450 nasal cartilage hypoplasia decrease in the number of normal cells in normal arrangement in any of the hyaline cartilaginous components of the nose, typically resulting in decreased size MP:0031451 abnormal median sulcus of tongue morphology any structural anomaly of the slight longitudinal depression on the dorsal surface of the tongue which extends from the tip of the tongue to the foramen cecum and divides the dorsum into right and left halves MP:0031452 decreased neural crest cell apoptosis decreased number of any population of neural crest cells undergoing programmed cell death MP:0031453 decreased cardiac neural crest cell apoptosis decreased number of cardiac neural crest cells (NCCs) undergoing programmed cell death MP:0031454 decreased cranial neural crest cell apoptosis decreased number of cranial neural crest cells (NCCs) undergoing programmed cell death MP:0031455 decreased trunk neural crest cell apoptosis decreased number of trunk neural crest cells (NCCs) undergoing programmed cell death MP:0031456 decreased vagal neural crest cell apoptosis decreased number of vagal neural crest cells (NCCs) undergoing programmed cell death MP:0031457 abnormal vomeronasal cartilage morphology any structural anomaly of the narrow process of cartilage found between the vomer and the cartilage of the nasal septum; it lies below, but is not connected to, the rudimentary vomeronasal organ MP:0031458 absent palate bones absence of both the maxillary and palatine shelves that comprise the bones of the hard palate MP:0031459 maxillary zygomatic process hypoplasia decrease in the number of normal cells in normal arrangement in the maxillary zygomatic process, typically resulting in decreased size MP:0031460 abnormal palatal shelf morphology any structural anomaly of either one of the paired outgrowths arising from the oral surface of the embryonic maxillary processes that come together during prenatal development to form the secondary palate MP:0031461 abnormal palatal shelf size anomaly in the size of either one or both of the palatal shelves compared to controls MP:0031462 decreased palatal shelf size reduced size of either one or both of the palatal shelves compared to controls MP:0031463 increased palatal shelf size increased size of either one or both of the palatal shelves compared to controls MP:0031464 abnormal spontaneous fetal mouth movement any anomaly in the spontaneous neuromuscular movements of the mandible and tongue prior to birth MP:0031466 abnormal palatal taste bud morphology any structural anomaly of the taste bud, a specialized receptor organ consisting of a group of clustered sensory cells, located on the soft palate, in the roof of the mouth; palatal taste buds lack supporting papilla structures and are directly embedded in the epithelium of the soft palate MP:0031467 absent palatal taste bud absence of the palatal taste buds that normally develop in the epithelium of the soft palate without associated papilla structures MP:0031468 abnormal taste bud morphology any structural anomaly of the specialized receptor organ that is a collection of cells spanning the gustatory epithelium MP:0031469 abnormal pinocytosis any anomaly in the endocytosis process that results in the uptake of liquid material by cells from their external environment; liquid is enclosed in vesicles, called pinosomes, formed by invagination of the plasma membrane MP:0031470 abnormal macropinocytosis any anomaly in the endocytosis process that results in the uptake of liquid material by cells from their external environment by the 'ruffling' of the cell membrane to form heterogeneously sized intracellular vesicles called macropinosomes, which can be up to 5 micrometers in size MP:0031471 abnormal micropinocytosis any anomaly in the endocytosis process that results in the uptake of liquid material by cells from their external environment by invagination of the plasma membrane to form uncoated micropinosomes, differentiated from macropinosomes by their smaller size, on average 95 nm MP:0031472 abnormal female germ cell apoptosis change in the timing or the number of female germ cells undergoing programmed cell death MP:0031473 decreased female germ cell apoptosis decrease in the number of female germ cells undergoing programmed cell death MP:0031474 increased female germ cell apoptosis increase in the number of female germ cells undergoing programmed cell death MP:0031475 decreased male germ cell apoptosis decrease in the number of male germ cells undergoing programmed cell death MP:0031476 decreased ovary apoptosis decrease in the number of ovary cells undergoing programmed cell death MP:0031477 vein stenosis abnormal narrowing or constriction of one or more veins MP:0031478 Brunner s gland hyperplasia increase in the number of normal cells in normal arrangement in Brunner s gland, typically resulting in increased size MP:0031479 increased urine xanthine level excretion of excessive amounts of xanthine in the urine; xanthine (2,6-dihydroxypurine) is a purine formed in the metabolic breakdown of guanine, but is not present in nucleic acids MP:0031480 abnormal urine xanthine level any anomaly in the amount in the urine of xanthine (2,6-dihydroxypurine), a purine that is formed in the metabolic breakdown of guanine but is not present in nucleic acids MP:0031481 decreased urine xanthine level a reduced amount of xanthine in the urine compared to the normal state MP:0031482 abnormal urine hypoxanthine level any anomaly in the amount in the urine of hypoxanthine (6-hydroxy purine), an intermediate in the degradation of adenylate MP:0031483 decreased urine hypoxanthine level a reduced amount of hypoxanthine in the urine compared to the normal state MP:0031484 increased urine hypoxanthine level an increased amount of hypoxanthine in the urine compared to the normal state MP:0031485 abnormal circulating hypoxanthine level any anomaly in the amount in the blood of hypoxanthine (6-hydroxy purine), an intermediate in the degradation of adenylate MP:0031486 decreased circulating hypoxanthine level a reduced amount of hypoxanthine in the blood compared to the normal state MP:0031487 increased circulating hypoxanthine level an increased amount of hypoxanthine in the blood compared to the normal state MP:0031488 abnormal circulating xanthine level any anomaly in the amount in the blood of xanthine (2,6-dihydroxypurine), a purine that is formed in the metabolic breakdown of guanine but is not present in nucleic acids MP:0031489 decreased circulating xanthine level a reduced amount of xanthine in the blood compared to the normal state MP:0031490 increased circulating xanthine level an increased amount of xanthine in the blood compared to the normal state MP:0031491 decreased oval window size less than average size of the oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes MP:0031492 increased oval window size greater than average size of the oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes MP:0031493 increased round window size greater than average size of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; it serves to regulate fluid pressure in the inner ear MP:0031494 abnormal prenatal movement any anomaly in the movements of a developing organism within the uterus MP:0031495 absent prenatal movement absence of any movements of a developing organism within the uterus MP:0031496 motor developmental delay acquisition of motor skills or milestones, including gross and/or fine motor abilities, occurs later in development compared to controls MP:0031497 increased visual acuity gain in visual acuity or increased ability to distinguish small details MP:0031498 abnormal cornea size deviation from the average range of cornea size for a given organism MP:0031499 decreased cornea size reduced average size of one or both corneas; generally refers to a congenital defect MP:0031500 increased cornea size increased average size of one or both corneas MP:0031501 abnormal mouth shape any anomaly in the characteristic surface outline or contour of the mouth of an organism MP:0031502 open mouth abnormal presence of a permanently or nearly permanently opened mouth MP:0031503 abnormal mouth size anomaly in the size of the mouth compared to controls MP:0031504 increased mouth width increased side-to-side or lateral distance of the mouth MP:0031505 decreased mouth width decreased side-to-side or lateral distance of the mouth MP:0031506 impaired peripheral nervous system regeneration decrease in the renewal, repair, and/or regrowth of peripheral nervous system tissue following injury or disease MP:0031507 enhanced peripheral nervous system regeneration increase in the renewal, repair, and/or regrowth of peripheral nervous system tissue following injury or disease MP:0031508 abnormal vascular smooth muscle cell proliferation anomaly in the ability of any smooth muscle cell population associated with the vasculature to undergo expansion by cell division MP:0031509 decreased vascular smooth muscle cell proliferation decrease in the expansion rate of any vascular smooth muscle cell population by cell division MP:0031510 increased vascular smooth muscle cell proliferation increase in the expansion rate of any vascular smooth muscle cell population by cell division MP:0031511 globular heart overall shape of the heart is more rounded than usual, lacking a distinct apex MP:0031512 abnormal circulating C-peptide level anomaly in the amount in the blood of the connecting (C) peptide that links the A and B chains in proinsulin MP:0031513 decreased circulating C-peptide level a reduction in the amount of the C-peptide in the blood MP:0031514 increased circulating C-peptide level an elevation in the amount of the C-peptide in the blood MP:0031515 l-loop transposition of the great arteries a type of transposition of the great arteries (TGA) in which the aorta is positioned to the left and front of the pulmonary artery; it is characterized by atrioventricular and ventriculoarterial discordance and usually associated with ventricular inversion due to leftward looping of the primitive heart tube MP:0031516 mitral valve inflammation local accumulation of fluid, plasma proteins, and leukocytes in the mitral valve MP:0031517 interrupted aortic arch, type c complete discontinuation/blockage between the ascending and descending aorta with the interruption located between the brachiocephalic (innominate) artery and the left common carotid artery MP:0031518 calcified aortic valve cusp pathologic deposition of calcium salts in one or more cusps (leaflets) of the aortic valve MP:0031519 calcified aortic valve annulus pathologic deposition of calcium salts in the aortic valve annulus MP:0031520 calcified mitral valve cusp pathologic deposition of calcium salts in one or both cusps (leaflets) of the mitral valve MP:0031521 calcified mitral valve annulus pathologic deposition of calcium salts in the mitral valve annulus MP:0031522 small mitral valve a decrease in the total area occupied by the mitral valve MP:0031523 mitral valve hypoplasia decrease in the number of normal cells in normal arrangement in the mitral valve, typically resulting in decreased size MP:0031524 mitral valve hyperplasia increase in the number of normal cells in normal arrangement in the mitral valve, typically resulting in increased size MP:0031525 thin left ventricle myocardium compact layer decreased myocardium compact layer thickness in the left heart ventricle MP:0031526 thin right ventricle myocardium compact layer decreased myocardium compact layer thickness in the right heart ventricle MP:0031527 small pulmonary valve a decrease in the total area occupied by the pulmonary valve MP:0031528 pulmonary valve hypoplasia decrease in the number of normal cells in normal arrangement in the pulmonary valve, typically resulting in decreased size MP:0031529 pulmonary valve hyperplasia increase in the number of normal cells in normal arrangement in the pulmonary valve, typically resulting in increased size MP:0031530 abnormal heart ventricle shape any anomaly in the characteristic surface outline or contour of one or both heart ventricles MP:0031531 decreased atrioventricular node size less than average size of the atrioventricular node compared to controls MP:0031532 abnormal heart ventricle wall morphology any structural anomaly of the cardiac wall of the heart ventricles MP:0031533 abnormal heart left ventricle wall morphology any structural anomaly of the cardiac wall of the heart left ventricle MP:0031534 abnormal heart right ventricle wall morphology any structural anomaly of the cardiac wall of the heart right ventricle MP:0031535 abnormal heart atrium wall thickness anomaly in the depth of the cardiac wall of the heart atria MP:0031536 decreased heart atrium wall thickness decreased depth of the cardiac wall of the heart atria MP:0031537 increased heart atrium wall thickness increased depth of the cardiac wall of the heart atria MP:0031538 quadricuspid aortic valve presence of four cusps (leaflets) of equal or varying sizes in the aortic valve instead of three MP:0031539 decreased papillary muscle size less than average dimensions of one or more of the ventricular papillary muscles MP:0031540 increased papillary muscle size greater than average dimensions of one or more of the ventricular papillary muscles MP:0031541 decreased sinoatrial node size reduction in the average size of the sinoatrial node MP:0031542 sinoatrial node hypoplasia decrease in the number of normal cells in normal arrangement in the sinoatrial node, typically resulting in decreased size MP:0031543 abnormal heart ventricle size anomaly in the average size of either one or both of the heart ventricles compared to the average for a particular population MP:0031544 decreased heart ventricle size reduced average size of one or both heart ventricles compared to the average for a particular population MP:0031545 increased sinoatrial node size increase in the average size of the sinoatrial node MP:0031546 sinoatrial node hyperplasia increase in the number of normal cells in normal arrangement in the sinoatrial node, typically resulting in increased size MP:0031547 increased atrioventricular node size greater than average size of the atrioventricular node MP:0031548 atrioventricular node hyperplasia increase in the number of normal cells in normal arrangement in the atrioventricular node, typically resulting in increased size MP:0031549 abnormal heart valve development anomaly in the progression of a heart valve over time, from its formation to the mature structure MP:0031550 abnormal atrioventricular valve development anomaly in the progression of an atrioventricular valve over time, from its formation to the mature structure MP:0031551 abnormal mitral valve development anomaly in the progression of the mitral valve over time, from its formation to the mature structure MP:0031552 abnormal tricuspid valve development anomaly in the progression of the tricuspid valve over time, from its formation to the mature structure MP:0031553 abnormal semilunar valve development anomaly in the progression of a semilunar valve over time, from its formation to the mature structure MP:0031554 abnormal aortic valve development anomaly in the progression of the aortic valve over time, from its formation to the mature structure MP:0031555 abnormal pulmonary valve development anomaly in the progression of the pulmonary valve over time, from its formation to the mature structure MP:0031556 abnormal sinoatrial valve development anomaly in the progression of the sinoatrial valve over time, from its formation to the mature structure MP:0031557 small tricuspid valve a decrease in the total area occupied by the tricuspid valve MP:0031558 tricuspid valve hyperplasia increase in the number of normal cells in normal arrangement in the tricuspid valve, typically resulting in increased size MP:0031559 tricuspid valve hypertrophy increase in the bulk size of the tricuspid valve due to cell enlargement MP:0031560 decreased ganglioside level reduction in the concentration of the molecule composed of a glycosphingolipid (ceramide and oligosaccharide) with one or more sialic acids linked on the sugar chain MP:0031561 increased ganglioside level increase in the concentration of the molecule composed of a glycosphingolipid (ceramide and oligosaccharide) with one or more sialic acids linked on the sugar chain MP:0031562 abnormal heart atrium shape any anomaly in the characteristic surface outline or contour of one or both heart atria MP:0031563 pulmonary valve hypertrophy increase in the bulk size of the pulmonary valve due to cell enlargement MP:0031564 mitral valve hypertrophy increase in the bulk size of the mitral valve due to cell enlargement MP:0031565 abnormal heart interventricular foramen morphology any structural anomaly of the temporary opening (space) between the free rim of the muscular interventricular septum and the fused endocardial cushions, allowing for communication between the developing right and left heart ventricles; in normal development, the interventricular foramen closes off when the septum fuses with the endocardial cushions and bulbar ridges to form the membranous part of the interventricular septum MP:0031566 small aortic valve a decrease in the total area occupied by the aortic valve MP:0031567 aortic valve hypoplasia decrease in the number of normal cells in normal arrangement in the aortic valve, typically resulting in decreased size MP:0031568 aortic valve hyperplasia increase in the number of normal cells in normal arrangement in the aortic valve, typically resulting in increased size MP:0031569 aortic valve hypertrophy increase in the bulk size of the aortic valve due to cell enlargement MP:0031570 enlarged atrioventricular valve an increase in the total area occupied by either one or both of the atrioventricular valves MP:0031571 atrioventricular valve hyperplasia increase in the number of normal cells in normal arrangement in either one or both of the atrioventricular valves, typically resulting in increased size MP:0031572 small atrioventricular valve a decrease in the total area occupied by either one or both of the atrioventricular valves MP:0031573 atrioventricular valve hypoplasia decrease in the number of normal cells in normal arrangement in either one or both of the atrioventricular valves, typically resulting in decreased size MP:0031574 thick atrioventricular valve an increase in the ratio of an atrioventricular valve wall thickness to the atrioventricular septum thickness MP:0031575 atrioventricular valve stenosis abnormal narrowing or constriction of either one or both of the atrioventricular valves MP:0031576 abnormal heart atrium size anomaly in the average size of either one or both of the heart atria compared to the average for a particular population MP:0031577 decreased heart atrium size reduced average size of either one or both of the heart atria compared to the average for a particular population MP:0031578 decreased heart left atrium size less than average size of the heart left atrium compared to the average for a particular population MP:0031579 decreased heart right atrium size less than average size of the heart right atrium compared to the average for a particular population MP:0031580 enlarged semilunar valve an increase in the total area occupied by either one or both of the semilunar valves MP:0031581 semilunar valve hyperplasia increase in the number of normal cells in normal arrangement in either one or both of the semilunar valves, typically resulting in increased size MP:0031582 small semilunar valve a decrease in the total area occupied by either one or both of the semilunar valves MP:0031583 semilunar valve hypoplasia decrease in the number of normal cells in normal arrangement in either one or both of the semilunar valves, typically resulting in decreased size MP:0031584 thick semilunar valve an increase in the ratio of a semilunar valve wall thickness to its corresponding arterial wall thickness MP:0031585 semilunar valve stenosis abnormal narrowing or constriction of either one or both of the semilunar valves MP:0031586 perivascular cardiac fibrosis deposition of fibrous connective tissue in spaces surrounding blood vessels in the heart, often resulting from inflammation or injury MP:0031587 abnormal pericardium development any anomaly in the process whose specific outcome is the progression of the pericardium over time, from its formation to the mature structure MP:0031588 distended epicardium an expansion in the volume of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart MP:0031589 detached epicardium partial or complete dissociation of the epicardium from the underlying myocardium MP:0031590 abnormal epicardium development any anomaly in the the progression of the heart epicardium over time, from its formation to the mature structure MP:0031591 detached endocardium partial or complete dissociation of the endocardium from the myocardial layer MP:0031592 abnormal endocardium development any anomaly in the process whose specific outcome is the progression of the endocardium over time, from its formation to the mature structure MP:0031593 decreased cardiac jelly amount reduction in the amount of the gelatinous non-cellular material present between the endothelial lining and the myocardial layer of the developing heart MP:0031594 increased cardiac jelly amount increase in the amount of the gelatinous non-cellular material present between the endothelial lining and the myocardial layer of the developing heart MP:0031595 abnormal adipose tissue apoptosis change in the timing or the number of cells in adipose tissue undergoing programmed cell death MP:0031596 decreased adipose tissue apoptosis reduction in the number of adipose tissue cells undergoing programmed cell death MP:0031597 increased adipose tissue apoptosis increase in the number of adipose tissue cells undergoing programmed cell death MP:0031598 abnormal white adipose tissue apoptosis change in the timing or the number of cells in white adipose tissue undergoing programmed cell death MP:0031599 decreased white adipose tissue apoptosis reduction in the number of white adipose tissue cells undergoing programmed cell death MP:0031600 increased white adipose tissue apoptosis increase in the number of white adipose tissue cells undergoing programmed cell death MP:0031601 decreased endoplasmic reticulum stress reduction in the accumulation of misfolded or unfolded proteins in the endoplasmic reticulum lumen in response to stimulation by genetic or environmental factors MP:0031602 white adipose tissue inflammation local accumulation of fluid, plasma proteins, and leukocytes in white adipose tissue MP:0031603 brown adipose tissue inflammation local accumulation of fluid, plasma proteins, and leukocytes in brown adipose tissue MP:0031604 abnormal susceptibility to age-related retinal degeneration a change in the likelihood that an organism will develop retinal degeneration that is progressive with age MP:0031605 decreased susceptibility to age-related retinal degeneration less likely than normal to develop retinal degeneration that is progressive with age MP:0031606 increased susceptibility to age-related retinal degeneration more likely than normal to develop retinal degeneration that is progressive with age MP:0031607 abnormal fetal cardiomyocyte mitochondrial morphology any structural anomaly of the semiautonomous, self replicating organelles in fetal and neonatal cardiomyocytes MP:0031608 decreased fetal cardiomyocyte size reduced size of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes MP:0031609 increased fetal cardiomyocyte size increased size of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes MP:0031610 abnormal fetal cardiomyocyte number any anomaly of the number of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes MP:0031611 decreased fetal cardiomyocyte number decrease in the number of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes MP:0031612 increased fetal cardiomyocyte number increase in the number of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes MP:0031613 fetal cardiomyocyte disarray disorganization or loss of the normal orientation and/or alignment of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes MP:0031614 fetal cardiomyocyte vacuoles abnormal presence of fluid-filled vesicles in the cytoplasm of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes MP:0031615 decreased muscle glycogen level less than the normal concentration of a readily converted carbohydrate reserve in any muscle tissue MP:0031616 increased muscle glycogen level greater than the normal concentration of a readily converted carbohydrate reserve in any muscle tissue MP:0031617 abnormal skeletal muscle cell glucose uptake anomaly in the ability of any skeletal muscle cells to take in glucose MP:0031618 decreased skeletal muscle cell glucose uptake reduced ability of any skeletal muscle cells to take in glucose MP:0031619 increased skeletal muscle cell glucose uptake increased ability of any skeletal muscle cells to take in glucose MP:3000001 abnormal gastrula morphology any structural anomaly of the pear shaped trilaminar embryonic stage in which the primititve streak elongates, the epiblast cells migrate medially towards the streak, enter the primitive groove and migrate laterally to organize into the intraembryonic mesoderm (epithelio-mesenchymal transition) between the embryonic ectoderm and primitive endoderm; the notochordal process forms and extends, and the disc becomes pear shaped as the notochordal process grows MP:3000002 obsolete abnormal skull morphology Any structural anomaly of a skull. MP:3000003 abnormal Ebner's gland morphology any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete lingual lipase initiating the process of lipid hydrolysis in the mouth and empty their serous secretion into the base of the moats around the foliate and circumvallate papillae; their secretion presumably flushes material from the moat to enable the taste buds to respond rapidly to changing stimuli. MP:3000004 abnormal nictitating membrane morphology any structural anomaly of the translucent fold of the mucous membrane of the conjunctiva present in some animals that can be drawn across the eye for protection and to moisten it while maintaining visibility; in many mammals, a small, vestigial portion of the membrane remains in the corner of the eye; in mice, the nictitating membrane is very small and composed of a very thin core of cartilage covered by loose connective tissue MP:3000005 abnormal lacrimal sac morphology any structural anomaly of the upper dilated end of the nasolacrimal duct that is lodged in a deep groove formed by the lacrimal bone and frontal process of the maxilla; it connects the lacrimal canaliculi, which drain tears from the eye's surface, and the nasolacrimal duct, which conveys this fluid into the nasal cavity; like the nasolacrimal duct, the sac is lined by stratified columnar epithelium with mucus-secreting goblet cells, and is surrounded by connective tissue