format-version: 1.2 data-version: releases/2024-08-08/mp.obo subsetdef: CvDC_Terms "" subsetdef: Europhenome_Terms "Terms in use by Europhenome" subsetdef: IMPC "Terms in use by IMPC" subsetdef: IMPC_Prenatal "Terms in use by IMPC Early Viability Group" subsetdef: Sanger_Terms "Terms in use by Mouse Genetics Project, Sanger Institute, Wellcome Trust Genome Campus" default-namespace: MPheno.ontology remark: The Mammalian Phenotype Ontology Copyright © 2007, 2008, 2011, 2012, 2015 by The Jackson Laboratory. ontology: mp property_value: http://purl.org/dc/elements/1.1/contributor "Alicia Valenzuela" xsd:string property_value: http://purl.org/dc/elements/1.1/contributor "Anna Anagnostopolous" xsd:string property_value: http://purl.org/dc/elements/1.1/contributor "Christopher Mungall" xsd:string property_value: http://purl.org/dc/elements/1.1/contributor "Eisuke Dohi" xsd:string property_value: http://purl.org/dc/elements/1.1/contributor "Georgios V. Gkoutos" xsd:string property_value: http://purl.org/dc/elements/1.1/contributor "Hiroshi Masuya" xsd:string property_value: http://purl.org/dc/elements/1.1/contributor "Howard Dene" xsd:string property_value: http://purl.org/dc/elements/1.1/contributor "Melissa Berry" xsd:string property_value: http://purl.org/dc/elements/1.1/contributor "Michelle Knowlton" xsd:string property_value: http://purl.org/dc/elements/1.1/contributor "Nicole Vasilevsky" xsd:string property_value: http://purl.org/dc/elements/1.1/contributor "Paul Schofield" xsd:string property_value: http://purl.org/dc/elements/1.1/contributor "Tatsuya Kushida" xsd:string property_value: http://purl.org/dc/elements/1.1/contributor "Terue Takatsuki" xsd:string property_value: http://purl.org/dc/elements/1.1/contributor "Toyofumi Fujiwara" xsd:string property_value: http://purl.org/dc/elements/1.1/creator "Carroll W. Goldsmith" xsd:string property_value: http://purl.org/dc/elements/1.1/creator "Cynthia L. Smith" xsd:string property_value: http://purl.org/dc/elements/1.1/creator "Janan T. Eppig" xsd:string property_value: http://purl.org/dc/elements/1.1/creator "Susan Bello" xsd:string property_value: http://purl.org/dc/elements/1.1/description "The Mammalian Phenotype Ontology is being developed by Cynthia L. Smith, Susan M. Bello, Anna, Anagnostopoulos, Carroll W. Goldsmith and Janan T. Eppig, as part of the Mouse Genome Database (MGD) Project, Mouse Genome Informatics (MGI), The Jackson Laboratory, Bar Harbor, ME. This file contains pre-coordinated phenotype terms, definitions and synonyms that can be used to describe mammalian phenotypes. The ontology is represented as a directed acyclic graph (DAG). It organizes phenotype terms into major biological system headers such as nervous system and respiratory system. This ontology is currently under development. Weekly updates are available at the Mouse Genome Informatics (MGI) ftp site (ftp://ftp.informatics.jax.org/pub/reports/index.html#pheno) as well as the OBO Foundry site (http://obofoundry.org/). Japanese labels of MP were created by the MP Japanese Translation Project (https://github.com/dbcls/MP_Japanse). Questions, comments and suggestions are welcome, and should be directed to pheno@jax.org, Susan.Bello@jax.org or to GitHub tracker (https://github.com/mgijax/mammalian-phenotype-ontology/issues) MGD is funded by NIH/NHGRI grant HG000330." xsd:string property_value: http://purl.org/dc/elements/1.1/language "English" xsd:string property_value: http://purl.org/dc/elements/1.1/title "The Mammalian Phenotype Ontology" xsd:string property_value: http://purl.org/dc/terms/license https://creativecommons.org/licenses/by/4.0/ property_value: IAO:0000700 MP:0000001 property_value: owl:versionInfo "2024-08-08" xsd:string [Term] id: MP:0000001 name: mammalian phenotype def: "the observable morphological, physiological, behavioral and other characteristics of mammalian organisms that are manifested through development and lifespan" [https://orcid.org/0000-0003-3691-0324] [Term] id: MP:0000002 name: obsolete Morphology def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "Anatomy" EXACT [] is_obsolete: true [Term] id: MP:0000003 name: abnormal adipose tissue morphology alt_id: MP:0000011 def: "any structural anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue" [MESH:A10.165.114, MGI:cwg] synonym: "abnormality of adipose tissue" BROAD [] synonym: "adipose tissue abnormalities" BROAD [] synonym: "adipose tissue dysplasia" EXACT [] is_a: MP:0005375 ! adipose tissue phenotype [Term] id: MP:0000005 name: increased brown adipose tissue amount alt_id: MP:0001779 def: "increased amount of the thermogenic form of adipose tissue that is composed of brown adipocytes" [MGI:cwg] synonym: "increased brown fat" EXACT [] synonym: "increased brown fat amount" RELATED [] is_a: MP:0001778 ! abnormal brown adipose tissue amount [Term] id: MP:0000008 name: increased white adipose tissue amount alt_id: MP:0001782 def: "increased quantity of fat-storing cells/tissue" [MGI:cwg] synonym: "increased white fat" EXACT [] synonym: "increased white fat amount" RELATED [] is_a: MP:0001781 ! abnormal white adipose tissue amount [Term] id: MP:0000010 name: abnormal abdominal fat pad morphology def: "any structural anomaly of the encapsulated adipose tissue in the abdomen" [PMID:8941642] synonym: "abnormal abdominal fat depot morphology" EXACT [] is_a: MP:0005334 ! abnormal fat pad morphology [Term] id: MP:0000012 name: obsolete loss of subcutaneous adipose tissue def: "OBSOLETE. reduction in amount or absence of adipose tissue beneath the skin" [PMID:8941642] comment: Obsolete. Use instead the terms decreased subcutaneous adipose tissue amount (MP:0008844) or absent subcutaneous adipose tissue (MP:0008843). is_obsolete: true consider: MP:0008843 consider: MP:0008844 [Term] id: MP:0000013 name: abnormal adipose tissue distribution def: "alterations in the normal placement of body fat" [PMID:10471508] subset: Europhenome_Terms subset: IMPC synonym: "abnormal fat distribution" RELATED [] is_a: MP:0000003 ! abnormal adipose tissue morphology [Term] id: MP:0000015 name: abnormal ear pigmentation def: "anomaly in the coloration of the skin of the outer ear due to changes in the amount, shape, or distribution of cells producing pigment" [MGI:cwg, MGI:llw2] is_a: MP:0002095 ! abnormal skin pigmentation is_a: MP:0030530 ! abnormal outer ear skin morphology [Term] id: MP:0000017 name: big ears def: "outer ears of a greater than normal size" [MGI:cwg] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "enlarged ears" EXACT [] synonym: "increased outer ear size" EXACT [] synonym: "large ears" EXACT [] synonym: "macrotia" EXACT [] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000018 name: small ears def: "outer ears of a smaller than normal size" [MGI:cwg] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased ear size" EXACT [] synonym: "microtia" EXACT [] synonym: "reduced ear size" EXACT [] synonym: "reduced pinna size" EXACT [] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000019 name: thick ears def: "increased width of the epidermal and cartilaginous tissue that makes up the ear" [PMID:1709129] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000020 name: scaly ears def: "loss of the outer layer of the epidermis of the ears in thick, dry scale-like patches" [PMID:1709129] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000021 name: prominent ears def: "protuberant outer ears" [PMID:10769039] synonym: "protruding ears" RELATED [] is_a: MP:0000023 ! abnormal ear position [Term] id: MP:0000022 name: abnormal ear shape def: "any anomaly in the characteristic surface outline or contour of the external ear" [PMID:10921880] subset: Europhenome_Terms subset: IMPC is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000023 name: abnormal ear position def: "anomaly in the space between or the placement of the outer ears" [MGI:cwg] subset: IMPC subset: Sanger_Terms synonym: "abnormal ear distance/ position" EXACT [] synonym: "abnormal pinna position" EXACT [] synonym: "abnormal pinnae position" EXACT [] synonym: "abnormal position of pinna" EXACT [] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000024 name: lowered ear position def: "outer ears are situated below the normal location often giving the perception of protruding from the head" [MGI:llw2] subset: Europhenome_Terms subset: IMPC synonym: "low set ears" EXACT [] synonym: "low-set ears" EXACT [] synonym: "lowset ears" EXACT [] synonym: "melotia" RELATED [] is_a: MP:0000023 ! abnormal ear position [Term] id: MP:0000025 name: otic hypertelorism def: "greater than normal space between the outer ears" [MGI:cwg] synonym: "hypertelorism of ears" EXACT [] synonym: "increased distance between the ears" EXACT [] is_a: MP:0000023 ! abnormal ear position [Term] id: MP:0000026 name: abnormal inner ear morphology def: "any structural anomaly of any components of the labyrinth, including the semicircular canals, vestibule and cochlea" [ISBN:0-683-40008-8] synonym: "inner ear dysplasia" EXACT [] xref: GO:0042472 is_a: MP:0002102 ! abnormal ear morphology [Term] id: MP:0000027 name: obsolete horizontal canal defects def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000028 name: abnormal pars superior vestibularis morphology def: "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" [ISBN:0-683-40008-8] synonym: "pars superior vestibularis dysplasia" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology is_a: MP:0002856 ! abnormal vestibular ganglion morphology [Term] id: MP:0000029 name: abnormal malleus morphology def: "any structural anomaly of the largest of the three auditory ossicles, which resembles a club or hammer" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0005105 ! abnormal middle ear ossicle morphology [Term] id: MP:0000030 name: abnormal tympanic ring morphology def: "any structural anomaly of the bony ring at the ear canal to which the tympanic membrane is attached" [ISBN:0-683-40008-8] synonym: "abnormal ectotympanic" RELATED [] synonym: "tympanic ring dysplasia" EXACT [] is_a: MP:0000049 ! abnormal middle ear morphology [Term] id: MP:0000031 name: abnormal cochlea morphology def: "any structural anomaly of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound" [ISBN:0-683-40008-8] synonym: "cochlear dysplasia" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0000032 name: cochlear degeneration def: "a retrogressive impairment of function or destruction of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound" [ISBN:0-683-40008-8] is_a: MP:0000031 ! abnormal cochlea morphology [Term] id: MP:0000033 name: absent scala media def: "missing spiral tube within the cochlea that contains the organ of Corti, the neuroepithelial receptor organ for hearing" [ISBN:0-683-40008-8] synonym: "absent cochlear duct" EXACT [] is_a: MP:0003169 ! abnormal scala media morphology [Term] id: MP:0000034 name: abnormal inner ear vestibule morphology def: "any structural anomaly of the cavity between the semicircular canals and the cochlea of the inner ear" [ISBN:0-683-40008-8] synonym: "abnormal bony labyrinth vestibule morphology" EXACT [] synonym: "abnormal inner ear vestibulum morphology" EXACT [] synonym: "abnormal osseous labyrinth vestibule morphology" EXACT [] synonym: "abnormal vestibule morphology" BROAD [] synonym: "abnormal vestibule of bony labyrinth morphology" EXACT [] synonym: "vestibular dysplasia" BROAD [] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0000035 name: abnormal membranous labyrinth morphology def: "any structural anomaly of the complex arrangement of communicating canaliculi and sacs suspended within the cavity of the bony labyrinth of the inner ear" [ISBN:0-683-40008-8] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0000036 name: absent semicircular canals def: "missing organ of balance; consists of three bony tubes within which the semicircular ducts are located" [ISBN:0-683-40008-8] is_a: MP:0002428 ! abnormal semicircular canal morphology [Term] id: MP:0000037 name: abnormal lateral semicircular canal morphology def: "any structural anomaly of the lateral long bony tube of the labyrinth that is involved in the sense of balance" [https://orcid.org/0000-0002-6490-7723, https://orcid.org/0000-0003-4606-0597, MGI:cwg] synonym: "horizontal semicircular canal dysplasia" EXACT [] is_a: MP:0002428 ! abnormal semicircular canal morphology [Term] id: MP:0000038 name: obsolete thin semicircular canals def: "OBSOLETE. decreased diameter of the three long bony tubes of the labyrinth that are involved in the sense of balance" [MGI:cwg] is_obsolete: true consider: MP:0002428 [Term] id: MP:0000039 name: abnormal otic capsule morphology def: "any structural anomaly of the cartilage or bony capsule surrounding the inner ear mechanism" [ISBN:0-683-40008-8] synonym: "abnormal auditory capsule morphology" EXACT [https://www.medilexicon.com/dictionary/14089] synonym: "abnormal periotic capsule morphology" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0000040 name: absent middle ear ossicles def: "missing small bones of the tympanic cavity" [ISBN:0-683-40008-8, PMID:1346922] is_a: MP:0005105 ! abnormal middle ear ossicle morphology [Term] id: MP:0000041 name: absent endolymphatic duct def: "missing small membranous canal of the inner ear; connecting membranous labyrinth with the endolymphatic sac" [ISBN:0-683-40008-8] is_a: MP:0006011 ! abnormal endolymphatic duct morphology [Term] id: MP:0000042 name: abnormal organ of Corti morphology def: "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" [ISBN:0-683-40008-8] synonym: "abnormal spiral organ morphology" EXACT [] is_a: MP:0003169 ! abnormal scala media morphology [Term] id: MP:0000043 name: organ of Corti degeneration def: "a retrogressive impairment of function or destruction of all or part the highly specialized epithelium in the floor of the ductus cochlearis" [MGI:cwg] synonym: "degeneration of organ of Corti" EXACT [] is_a: MP:0000032 ! cochlear degeneration is_a: MP:0000042 ! abnormal organ of Corti morphology [Term] id: MP:0000044 name: absent organ of Corti def: "absence of the highly specialized epithelium in the floor of the ductus cochlearis" [PMID:10072433] synonym: "absent acoustic papilla" EXACT [] synonym: "absent spiral organ" EXACT [] is_a: MP:0000042 ! abnormal organ of Corti morphology [Term] id: MP:0000045 name: abnormal hair cell morphology def: "any structural anomaly of the sensory epithelial cells of the inner ear" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] synonym: "abnormal hair cells" BROAD [] synonym: "hair cell dysplasia" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology is_a: MP:0000972 ! abnormal mechanoreceptor morphology [Term] id: MP:0000046 name: abnormal sulcus ampullaris morphology def: "any structural anomaly of the transverse groove on the membranous amupulla of each semicircular duct, where the nerve enters the ampullary crest" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal ampullary groove morphology" EXACT [] synonym: "abnormal ampullary sulcus morphology" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0000047 name: obsolete abnormal interdental cells def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true replaced_by: MP:0004482 [Term] id: MP:0000048 name: abnormal stria vascularis morphology def: "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" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "abnormal psalterial cord morphology" EXACT [] synonym: "abnormal stria vascularis ductus cochlearis morphology" EXACT [] synonym: "abnormal vascular stripe morphology" EXACT [] is_a: MP:0003169 ! abnormal scala media morphology [Term] id: MP:0000049 name: abnormal middle ear morphology def: "any structural anomaly of any components of the tympanic cavity or its ossicles" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "middle ear dysplasia" EXACT [] is_a: MP:0002102 ! abnormal ear morphology [Term] id: MP:0000051 name: obsolete absent process brevus def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true replaced_by: MP:0003110 [Term] id: MP:0000052 name: early ear unfolding def: "early onset of the opening and spreading out of the outer ear" [PMID:9135074] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000053 name: excessive ear growth def: "overly robust development of the ear" [PMID:9135074] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000054 name: delayed ear emergence def: "late onset of the growth of the outer ear" [PMID:9722615] synonym: "delayed ear elevation" EXACT [] synonym: "delayed ear extroversion" EXACT [] is_a: MP:0002177 ! abnormal outer ear morphology [Term] id: MP:0000060 name: delayed bone ossification def: "late onset of the formation of bone" [PMID:9144284] is_a: MP:0008271 ! abnormal bone ossification [Term] id: MP:0000061 name: fragile skeleton alt_id: MP:0001543 def: "easily damaged or broken bones" [PMID:8393145] synonym: "brittle bones" EXACT [] synonym: "fragile bones" EXACT [] synonym: "general bone weakness" EXACT [] synonym: "increased susceptibility to bone fracture" EXACT [] synonym: "increased susceptibility to fractures" EXACT [] is_a: MP:0001542 ! abnormal bone strength [Term] id: MP:0000062 name: increased bone mineral density alt_id: MP:0010120 def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "elevated BMD" EXACT [] synonym: "elevated bone mineral density" EXACT [] synonym: "increased BMD" EXACT [] synonym: "increased bone density" EXACT [] is_a: MP:0010119 ! abnormal bone mineral density [Term] id: MP:0000063 name: decreased bone mineral density alt_id: MP:0010121 def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased BMD" EXACT [] synonym: "decreased bone density" EXACT [] synonym: "osteopenia" EXACT [] synonym: "reduced BMD" EXACT [] synonym: "reduced bone density" EXACT [] synonym: "reduced bone mineral density" EXACT [] is_a: MP:0010119 ! abnormal bone mineral density [Term] id: MP:0000064 name: failure of bone resorption def: "inability to degrade the organic and inorganic phases of bone by absorption, usually by the abnormal function or by absence of osteoclasts" [PMID:10709991, PMID:1997203] is_a: MP:0004945 ! abnormal bone resorption [Term] id: MP:0000065 name: abnormal bone marrow cavity morphology def: "any structural anomaly of the medullary cavities of the bones" [ISBN:0-683-40008-8, PMID:10709991] comment: Note that this term refers to the structure of the cavity itself, not to the contents of the cavity (i.e. the bone marrow). synonym: "abnormal bone marrow cavities" BROAD [] synonym: "abnormal bone medullary cavity morphology" EXACT [] is_a: MP:0003795 ! abnormal bone structure [Term] id: MP:0000066 name: osteoporosis def: "reduction in bone mass or atrophy of skeletal tissue; may lead to skeletal fragility" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:10471508] synonym: "reduced bone mass" RELATED [] is_a: MP:0004016 ! decreased bone mass [Term] id: MP:0000067 name: osteopetrosis def: "excessive formation of dense trabecular bone and excessive calcified cartilage formation; may lead to anemia and extramedullary hematopoiesis" [ISBN:0-683-40008-8, MESH:C05.116.099.708.702.678] is_a: MP:0005605 ! increased bone mass [Term] id: MP:0000069 name: kyphoscoliosis def: "kyphosis combined with scoliosis" [MGI:cml, PMID:11136708] synonym: "scoliokyphosis" EXACT [] is_a: MP:0000160 ! kyphosis is_a: MP:0000161 ! scoliosis [Term] id: MP:0000071 name: axial skeleton hypoplasia def: "decrease in the number of normal cells in normal arrangement in the axial skeleton, typically resulting in decreased size" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:10572046] synonym: "hypoplastic axial skeleton" EXACT [] is_a: MP:0002114 ! abnormal axial skeleton morphology [Term] id: MP:0000073 name: absent craniofacial bones def: "missing skeletal elements comprising the cranium and face" [PMID:8837770] synonym: "absence of craniofacial bones" EXACT [] is_a: MP:0002116 ! abnormal craniofacial bone morphology [Term] id: MP:0000074 name: abnormal neurocranium morphology alt_id: MP:0000076 def: "any structural anomaly of the bones of the skull enclosing the brain" [ISBN:0-683-40008-8, PMID:10572046] synonym: "abnormal calvaria morphology" EXACT [] synonym: "abnormal cranial vault morphology" EXACT [] synonym: "calvaria dysplasia" EXACT [] synonym: "neurocranium dysplasia" EXACT [] is_a: MP:0000438 ! abnormal cranium morphology [Term] id: MP:0000075 name: absent neurocranium def: "missing bones of the skull enclosing the brain" [ISBN:0-683-40008-8, PMID:9753320] synonym: "absence of neurocranium" EXACT [] is_a: MP:0000074 ! abnormal neurocranium morphology [Term] id: MP:0000077 name: abnormal interparietal bone morphology alt_id: MP:0000110 def: "any structural anomaly of the bone of the cranium that lies above and anterior to the occipital bone in some mammals" [https://orcid.org/0000-0003-3691-0324, PMID:10742104] synonym: "interparietal bone dysplasia" EXACT [] is_a: MP:0000074 ! abnormal neurocranium morphology [Term] id: MP:0000078 name: abnormal supraoccipital bone morphology def: "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" [PMID:10742104] comment: The basioccipital, exoccipital and supraoccipital bones are distinct bones in prenatal, neonatal and some early juvenile stages in most mammals. In adult organisms, these structures are fused to form the unified adult occipital bone. synonym: "supraoccipital bone dysplasia" EXACT [] is_a: MP:0005269 ! abnormal occipital bone morphology [Term] id: MP:0000079 name: abnormal basioccipital bone morphology def: "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" [ISBN:0-683-40008-8] comment: The basioccipital, exoccipital and supraoccipital bones are distinct bones in prenatal, neonatal and some early juvenile stages in most mammals. In adult organisms, these structures are fused to form the unified adult occipital bone. synonym: "basioccipital bone dysplasia" EXACT [] is_a: MP:0005269 ! abnormal occipital bone morphology is_a: MP:0010029 ! abnormal basicranium morphology [Term] id: MP:0000080 name: abnormal exoccipital bone morphology def: "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" [ISBN:0-683-40008-8, PMID:1680563] comment: The basioccipital, exoccipital and supraoccipital bones are distinct bones in prenatal, neonatal and some early juvenile stages in most mammals. In adult organisms, these structures are fused to form the unified adult occipital bone. synonym: "exoccipital bone dysplasia" EXACT [] is_a: MP:0005269 ! abnormal occipital bone morphology [Term] id: MP:0000081 name: premature cranial suture closure alt_id: MP:0005268 def: "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" [https://rarediseases.info.nih.gov/diseases/6209/craniosynostosis, PMID:7597092] subset: CvDC_Terms synonym: "cranial suture synostosis" EXACT [] synonym: "craniostosis" EXACT [] synonym: "craniosynostosis" EXACT [] synonym: "early fusion of cranial sutures" EXACT [] xref: Fyler:4336 is_a: MP:0030435 ! premature craniofacial suture closure [Term] id: MP:0000082 name: overlapping parietal bones def: "parietal bones of the skull partly coincide instead of articulating" [PMID:7597092] is_a: MP:0000109 ! abnormal parietal bone morphology [Term] id: MP:0000083 name: obsolete ectopic cranial bone growth def: "OBSOLETE. growth of extra bony structures in or near the cranium" [PMID:7597092] synonym: "heterotopic cranial bone growth" EXACT [] is_obsolete: true replaced_by: MP:0014166 [Term] id: MP:0000084 name: abnormal fontanelle morphology def: "any structural anomaly in the membranous interval at the margins of cranial bones in neonates" [ISBN:0-683-40008-8, PMID:9949198] synonym: "abnormal fontanel morphology" EXACT [] synonym: "fontanelle dysplasia" EXACT [] is_a: MP:0000074 ! abnormal neurocranium morphology is_a: MP:0002113 ! abnormal skeleton development [Term] id: MP:0000085 name: large anterior fontanelle def: "enlarged diamond-shaped membranous interval at the junction of the coronal, sagittal and metopic sutures of the cranium" [ISBN:0-683-40008-8, PMID:9949198] synonym: "enlarged anterior fontanelle" EXACT [] synonym: "enlarged frontal fontanelle" EXACT [] synonym: "large anterior fontanel" EXACT [] synonym: "large frontal fontanelle" EXACT [] is_a: MP:0030363 ! abnormal anterior fontanelle morphology is_a: MP:0030388 ! large fontanelles [Term] id: MP:0000087 name: absent mandible def: "missing the lower bony framework of the mouth where the inferior teeth are held" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "absence of lower jaw" EXACT [] synonym: "absence of mandible" EXACT [] synonym: "absent lower jaw" EXACT [] synonym: "agenesis of the lower jaw bone" EXACT [] synonym: "agenesis of the mandible" EXACT [] synonym: "aplasia of the lower jaw bone" EXACT [] synonym: "aplasia of the mandible" EXACT [] synonym: "mandibular agenesis" EXACT [] synonym: "mandibular agnathia" EXACT [] synonym: "mandibular aplasia" EXACT [] is_a: MP:0000458 ! abnormal mandible morphology is_a: MP:0030268 ! agnathia is_a: MP:0030385 ! absent facial bone [Term] id: MP:0000088 name: short mandible def: "reduced length of the lower bony framework of the mouth where the inferior teeth are held" [MGI:cwg] synonym: "reduced mandible length" EXACT [] synonym: "truncated mandible" EXACT [] is_a: MP:0004592 ! small mandible is_a: MP:0030384 ! short facial bone [Term] id: MP:0000090 name: absent premaxilla def: "missing anterior and interior portion of the maxilla" [ISBN:0-683-40008-8, PMID:7914451] synonym: "absence of premaxilla" EXACT [] is_a: MP:0002820 ! abnormal premaxilla morphology is_a: MP:0030385 ! absent facial bone [Term] id: MP:0000091 name: short premaxilla def: "length reduction or truncation of the anterior and interior portion of the maxilla" [ISBN:0-683-40008-8, PMID:9949198] synonym: "short incisive bone" EXACT [] synonym: "truncated premaxilla" EXACT [] is_a: MP:0004870 ! small premaxilla is_a: MP:0030384 ! short facial bone [Term] id: MP:0000094 name: absent alveolar process def: "missing projecting ridge on the inferior surface of the body of the maxilla and mandible containing the tooth sockets" [ISBN:0-683-40008-8, PMID:7914451] synonym: "absence of alveolar process" EXACT [] synonym: "absent alveolar bone" EXACT [] synonym: "absent alveolar ridge" EXACT [] is_a: MP:0004189 ! abnormal alveolar process morphology [Term] id: MP:0000097 name: short maxilla alt_id: MP:0000093 def: "reduced length of the upper jaw bone" [ISBN:0-683-40008-8, PMID:9949198] synonym: "decreased maxilla length" EXACT [] synonym: "reduced maxilla length" EXACT [] synonym: "reduced upper jaw length" EXACT [] is_a: MP:0004540 ! small maxilla is_a: MP:0030384 ! short facial bone [Term] id: MP:0000098 name: abnormal vomer bone morphology def: "any structural anomaly of the triangular flat bone of the nasal septum" [ISBN:0-683-40008-8] synonym: "vomer bone dysplasia" EXACT [] is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0000099 name: absent vomer bone def: "missing triangular flat bone of the nasal septum" [ISBN:0-683-40008-8, PMID:9753320] synonym: "absence of vomer bone" EXACT [] is_a: MP:0000098 ! abnormal vomer bone morphology is_a: MP:0030385 ! absent facial bone [Term] id: MP:0000100 name: abnormal ethmoid bone morphology def: "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" [https://radiopaedia.org/articles/ethmoid-bone-1, ISBN:0-683-40008-8] synonym: "abnormal ethmoidal bone morphology" EXACT [] synonym: "ethmoid bone dysplasia" EXACT [] synonym: "ethmoidal bone dysplasia" EXACT [] is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0000101 name: absent ethmoid bone def: "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" [https://radiopaedia.org/articles/ethmoid-bone-1, ISBN:0-683-40008-8, PMID:9753320] synonym: "absent ethmoidal bone" EXACT [] is_a: MP:0000100 ! abnormal ethmoid bone morphology is_a: MP:0030385 ! absent facial bone [Term] id: MP:0000102 name: abnormal nasal bone morphology def: "any structural anomaly of either of two rectangular bone plates forming the bridge of the nose" [ISBN:0-683-40008-8, PMID:7914451] synonym: "nasal bone dysplasia" EXACT [] is_a: MP:0002233 ! abnormal nose morphology is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0000103 name: nasal bone hypoplasia def: "decrease in the number of normal cells in normal arrangement in the nasal bone, typically resulting in decreased size" [PMID:9949198] synonym: "hypoplastic nasal bone" EXACT [] is_a: MP:0004470 ! small nasal bone is_a: MP:0030386 ! facial bone hypoplasia [Term] id: MP:0000104 name: abnormal sphenoid bone morphology def: "any structural anomaly of the irregularly shaped bone of the base of the skull" [ISBN:0-683-40008-8, PMID:9753320] synonym: "sphenoid bone dysplasia" EXACT [] is_a: MP:0000074 ! abnormal neurocranium morphology [Term] id: MP:0000105 name: impaired ossification of basisphenoid bone def: "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" [ISBN:0-683-40008-8, PMID:9753320] synonym: "defective ossification of basisphenoid" EXACT [] is_a: MP:0000106 ! abnormal basisphenoid bone morphology is_a: MP:0008273 ! abnormal intramembranous bone ossification [Term] id: MP:0000106 name: abnormal basisphenoid bone morphology def: "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" [ISBN:0-683-40008-8] synonym: "basisphenoid bone dysplasia" EXACT [] is_a: MP:0000104 ! abnormal sphenoid bone morphology is_a: MP:0010029 ! abnormal basicranium morphology [Term] id: MP:0000107 name: abnormal frontal bone morphology def: "any structural anomaly of the single bone forming the forehead and roof of the eye orbit" [ISBN:0-683-40008-8, PMID:7914451] synonym: "frontal bone dysplasia" EXACT [] is_a: MP:0000074 ! abnormal neurocranium morphology is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0000108 name: midline facial cleft def: "incomplete merging or fusion of the tissues (e.g. the two globular processes) along the facial midline that normally unite to form the face" [ISBN:0-683-40008-8, PMID:9753320] synonym: "median facial cleft" EXACT [] synonym: "mid-face cleft" EXACT [] synonym: "mid-facial cleft" EXACT [] synonym: "midfacial cleft" EXACT [] is_a: MP:0008797 ! facial cleft [Term] id: MP:0000109 name: abnormal parietal bone morphology def: "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" [https://orcid.org/0000-0002-6490-7723, https://quizlet.com/222497251/cranial-bones-flash-cards/, https://www.merriam-webster.com/dictionary/parietal%20bone] synonym: "parietal bone dysplasia" EXACT [] is_a: MP:0000074 ! abnormal neurocranium morphology [Term] id: MP:0000111 name: cleft palate alt_id: MP:0000429 def: "congenital fissure of the tissues normally uniting to form the palate" [ISBN:0-683-40008-8, PMID:9753320] subset: CvDC_Terms subset: IMPC_Prenatal synonym: "palatoschisis" EXACT [] xref: Fyler:4876 is_a: MP:0003755 ! abnormal palate morphology is_a: MP:0021164 ! oral cleft [Term] id: MP:0000114 name: cleft chin def: "incomplete fusion of the chin; usually a fissure" [ISBN:0-683-40008-8, PMID:9256350] is_a: MP:0030243 ! abnormal chin morphology [Term] id: MP:0000116 name: abnormal tooth development def: "any anomaly in the formation of the teeth" [MGI:cwg] synonym: "abnormal odontogenesis" EXACT [] synonym: "abnormal odontogeny" EXACT [] synonym: "abnormal odontosis" EXACT [] synonym: "abnormal tooth morphogenesis" EXACT [] synonym: "tooth development abnormalities" EXACT [] is_a: MP:0002100 ! abnormal tooth morphology is_a: MP:0003935 ! abnormal craniofacial development [Term] id: MP:0000117 name: absent tooth placode def: "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" [https://orcid.org/0000-0002-6490-7723, https://www.ncbi.nlm.nih.gov/books/NBK27071/, PMID:10227294] synonym: "absence of tooth anlage" EXACT [] synonym: "absence of tooth primordium" EXACT [] synonym: "absent dental anlage" EXACT [] synonym: "absent dental placode" EXACT [] synonym: "absent dental primordium" EXACT [] synonym: "absent odontogenic placode" EXACT [] synonym: "absent tooth anlage" EXACT [] synonym: "absent tooth primordia" EXACT [] synonym: "absent tooth primordium" EXACT [] is_a: MP:0030510 ! abnormal tooth placode morphology [Term] id: MP:0000118 name: arrest of tooth development def: "failure of differentiation of the teeth" [PMID:7958926] is_a: MP:0000116 ! abnormal tooth development [Term] id: MP:0000119 name: abnormal tooth eruption def: "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" [https://books.google.com/books?isbn=8131240363, https://orcid.org/0000-0002-6490-7723] synonym: "tooth eruption abnormalities" EXACT [] is_a: MP:0000116 ! abnormal tooth development [Term] id: MP:0000120 name: malocclusion def: "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" [PMID:10742104] subset: IMPC subset: Sanger_Terms synonym: "bad bite" EXACT [] synonym: "dental malocclusion" EXACT [] synonym: "malalignment of upper and lower dental arches" EXACT [] synonym: "malocclusion of teeth" EXACT [] synonym: "misalignment of upper and lower dental arches" EXACT [] is_a: MP:0030540 ! misaligned teeth [Term] id: MP:0000121 name: failure of tooth eruption def: "inability of the teeth to grow into the oral cavity" [ISBN:0-683-40008-8, PMID:10709991] is_a: MP:0000119 ! abnormal tooth eruption [Term] id: MP:0000122 name: premature tooth eruption def: "early onset of the growth of the teeth out of the gums" [PMID:1709129] is_a: MP:0000119 ! abnormal tooth eruption [Term] id: MP:0000124 name: obsolete absent teeth def: "OBSOLETE. absence of some or all of the bony structures of the upper and lower jaws used in mastication" [ISBN:0-683-40008-8, PMID:10709991] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms is_obsolete: true replaced_by: MP:0030610 [Term] id: MP:0000125 name: absent incisors def: "absence of the pairs of long teeth that are the most anterior and prominent in the jaw" [MGI:llw2] subset: IMPC subset: Sanger_Terms synonym: "absence of incisors" EXACT [] is_a: MP:0030609 ! decreased incisor number [Term] id: MP:0000126 name: brittle teeth def: "fragile and likely to break teeth" [PMID:10742104] is_a: MP:0002100 ! abnormal tooth morphology [Term] id: MP:0000127 name: degenerate molars def: "deterioration or loss over time of the molars" [https://orcid.org/0000-0003-3691-0324] synonym: "degenerated molars" EXACT [] is_a: MP:0002689 ! abnormal molar morphology [Term] id: MP:0000128 name: growth retardation of molars def: "developmental delay of the growth of the molars" [PMID:7914451] is_a: MP:0000116 ! abnormal tooth development [Term] id: MP:0000129 name: ameloblast degeneration def: "a retrogressive impairment of function or destruction of the epithelial cells of the inner later of the enamel organ of the developing tooth" [ISBN:0-683-40008-8, PMID:10742104] synonym: "degeneration of ameloblasts" EXACT [] is_a: MP:0002650 ! abnormal ameloblast morphology [Term] id: MP:0000130 name: abnormal trabecular bone morphology def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal cancellous bone morphology" EXACT [] synonym: "abnormal spongy bone morphology" EXACT [] synonym: "abnormal spongy spongiosa morphology" EXACT [] synonym: "abnormal spongy substance morphology" EXACT [] synonym: "abnormal substantia trabecularis morphology" EXACT [] is_a: MP:0003795 ! abnormal bone structure [Term] id: MP:0000131 name: abnormal long bone epiphysis morphology def: "any structural anomaly of the rounded end of a long bone" [PMID:10742104] synonym: "abnormal epiphysis" EXACT [] synonym: "long bone epiphysis dysplasia" EXACT [] is_a: MP:0002113 ! abnormal skeleton development is_a: MP:0003723 ! abnormal long bone morphology [Term] id: MP:0000132 name: thickened long bone epiphysis def: "wider than normal rounded end of a long bone" [ISBN:0-683-40008-8, PMID:10709991] synonym: "thick epiphysis" EXACT [] is_a: MP:0000131 ! abnormal long bone epiphysis morphology [Term] id: MP:0000133 name: abnormal long bone metaphysis morphology def: "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" [ISBN:0-683-40008-8, PMID:10709991] synonym: "abnormal metaphysis" EXACT [] synonym: "long bone metaphysis dysplasia" EXACT [] is_a: MP:0003723 ! abnormal long bone morphology [Term] id: MP:0000134 name: abnormal compact bone thickness def: "reduced or increased width of the superficial layer of compact bone" [ISBN:0-683-40008-8, PMID:10581033] synonym: "abnormal cortical bone thickness" RELATED [] is_a: MP:0003797 ! abnormal compact bone morphology [Term] id: MP:0000135 name: decreased compact bone thickness def: "thinner than normal superficial layer of compact bone" [PMID:10742104] synonym: "decreased cortical bone thickness" EXACT [] synonym: "reduced compact bone thickness" EXACT [] synonym: "reduced cortical bone thickness" EXACT [] synonym: "thin compact bone" EXACT [] synonym: "thin cortical bone" EXACT [] is_a: MP:0000134 ! abnormal compact bone thickness [Term] id: MP:0000136 name: abnormal microglial cell morphology def: "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" [PMID:16322748] is_a: MP:0000952 ! abnormal CNS glial cell morphology is_a: MP:0002446 ! abnormal macrophage morphology [Term] id: MP:0000137 name: abnormal vertebrae morphology alt_id: MP:0001538 def: "any structural anomaly of the bony segments of the spinal column" [ISBN:0-683-40008-8] subset: CvDC_Terms subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal vertebra" BROAD [] synonym: "vertebra defect" BROAD [] synonym: "vertebra dysplasia" EXACT [] synonym: "vertebral anomaly" EXACT [] xref: Fyler:4108 is_a: MP:0004703 ! abnormal vertebral column morphology [Term] id: MP:0000138 name: absent vertebrae def: "missing all of the bony segments of the spinal column" [PMID:8837770] synonym: "absence of vertebrae" EXACT [] is_a: MP:0000137 ! abnormal vertebrae morphology [Term] id: MP:0000139 name: absent vertebral transverse processes def: "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" [PMID:10804168, PMID:10804169] synonym: "absence of transverse processes" EXACT [] is_a: MP:0004600 ! abnormal vertebral transverse process morphology [Term] id: MP:0000140 name: absent vertebral pedicles def: "loss of the two short, thick processes, which project backward, one on either side, from the upper part of the body to the laminae" [ISBN:0-683-40008-8, PMID:10804168, PMID:10804169] synonym: "absence of pedicles" EXACT [] is_a: MP:0004604 ! abnormal vertebral pedicle morphology [Term] id: MP:0000141 name: abnormal vertebral body morphology def: "any structural anomaly of the main cylindrical portion of the vertebra ventral to the vertebral canal" [ISBN:0-683-40008-8, PMID:10572046] synonym: "abnormal vertebral bodies" BROAD [] synonym: "vertebral body dysplasia" EXACT [] is_a: MP:0000137 ! abnormal vertebrae morphology [Term] id: MP:0000142 name: obsolete An Extra Piece of Bone Rostral to C1 def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000143 name: obsolete Broadening/Splitting of the Neural Arch of C2 def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0004608 consider: MP:0010703 [Term] id: MP:0000148 name: obsolete abnormal shoulder/ pelvic girdle morphology alt_id: MP:0001540 def: "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" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal shoulder/ pelvic girdle" EXACT [] synonym: "shoulder/ pelvic girdle defect" EXACT [] is_obsolete: true consider: MP:0004508 consider: MP:0004509 [Term] id: MP:0000149 name: abnormal scapula morphology def: "any structural anomaly of either or both of the large, flat bones of the back part of the shoulder" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "scapula dysplasia" EXACT [] is_a: MP:0004508 ! abnormal pectoral girdle bone morphology [Term] id: MP:0000150 name: abnormal rib morphology def: "any structural anomaly of the bones forming the bony wall of the chest" [ISBN:0-683-40008-8, PMID:9778510] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal ribs" BROAD [] synonym: "rib defect" BROAD [] synonym: "rib dysplasia" EXACT [] is_a: MP:0004624 ! abnormal thoracic cage morphology [Term] id: MP:0000151 name: absent ribs def: "absence of all the pairs of bony structures that make up the body wall" [PMID:7925010] synonym: "absence of ribs" EXACT [] is_a: MP:0003345 ! decreased rib number [Term] id: MP:0000152 name: absent proximal rib def: "missing part of rib structures near the spine, ribs do not contact vertebrae" [PMID:10804168, PMID:10804169] synonym: "absence of proximal ribs" EXACT [] is_a: MP:0000150 ! abnormal rib morphology [Term] id: MP:0000153 name: rib bifurcation def: "forking or division of ribs, may be a result of partial rib fusions" [ISBN:0-683-40008-8] synonym: "rib splitting" EXACT [] is_a: MP:0000150 ! abnormal rib morphology [Term] id: MP:0000154 name: rib fusion def: "appearance of one or more ribs as a single structure" [PMID:10804168, PMID:10804169] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "fused ribs" EXACT [] synonym: "fusion of ribs" EXACT [] is_a: MP:0000150 ! abnormal rib morphology [Term] id: MP:0000155 name: asymmetric rib joints def: "loss of bilateral symmetry in rib attachments to the vertebral column or to the sternum" [PMID:7925010] synonym: "asymmetric rib articulation" EXACT [] synonym: "asymmetric rib attachment" EXACT [] is_a: MP:0004625 ! abnormal rib joint morphology [Term] id: MP:0000156 name: obsolete Presence of 6 Vertebrosternal Ribs instead of 7 def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0000480 [Term] id: MP:0000157 name: abnormal sternum morphology def: "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" [ISBN:0-683-40008-8, PMID:7925010] synonym: "sternum defect" BROAD [] synonym: "sternum dysplasia" EXACT [] is_a: MP:0004508 ! abnormal pectoral girdle bone morphology is_a: MP:0004624 ! abnormal thoracic cage morphology [Term] id: MP:0000158 name: absent sternum def: "missing long flat bone of the chest; articulates with clavicle and first seven rib pairs" [ISBN:0-683-40008-8, PMID:10885747] is_a: MP:0000157 ! abnormal sternum morphology [Term] id: MP:0000159 name: abnormal xiphoid process morphology def: "any structural anomaly of the caudal tip of the sternum" [ISBN:0-683-40008-8] subset: IMPC subset: Sanger_Terms synonym: "abnormal xiphisternum morphology" EXACT [] synonym: "abnormal xiphoid cartilage morphology" EXACT [] synonym: "xiphoid process defect" BROAD [] synonym: "xyphoid process dysplasia" EXACT [] is_a: MP:0000157 ! abnormal sternum morphology [Term] id: MP:0000160 name: kyphosis alt_id: MP:0000068 def: "forward curvature of the spine, characterized by extensive flexion" [ISBN:0-683-40008-8, MGI:cml, PMID:10804168, PMID:11136708] subset: IMPC subset: Sanger_Terms synonym: "humpback" EXACT [] synonym: "hunchback" EXACT [] is_a: MP:0004174 ! abnormal spine curvature [Term] id: MP:0000161 name: scoliosis alt_id: MP:0000070 def: "lateral and rotational curvature of the spine" [ISBN:0-683-40008-8, PMID:11136708, PMID:9949198] subset: CvDC_Terms subset: IMPC subset: Sanger_Terms xref: Fyler:4160 is_a: MP:0004174 ! abnormal spine curvature [Term] id: MP:0000162 name: lordosis def: "anteriorly convex curvature of the spine" [ISBN:0-683-40008-8, PMID:10804169] subset: IMPC subset: Sanger_Terms synonym: "saddle back" EXACT [] is_a: MP:0004174 ! abnormal spine curvature [Term] id: MP:0000163 name: abnormal cartilage morphology def: "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" [ISBN:0-683-40008-8] synonym: "cartilage dysplasia" EXACT [] is_a: MP:0005508 ! abnormal skeleton morphology [Term] id: MP:0000164 name: abnormal cartilage development def: "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" [ISBN:0-683-40008-8] synonym: "abnormal cartilage formation" EXACT [] synonym: "abnormal chondrogenesis" EXACT [] synonym: "dyschondrogenesis" EXACT [] is_a: MP:0000163 ! abnormal cartilage morphology is_a: MP:0002113 ! abnormal skeleton development [Term] id: MP:0000165 name: abnormal long bone hypertrophic chondrocyte zone def: "anomaly of the layer of the epiphyseal plate of a long bone where chondrocytes mature and enlarge" [ISBN:0-683-40008-8, PMID:10581033] synonym: "abnormal long bone zone of hypertrophy" RELATED [] is_a: MP:0000164 ! abnormal cartilage development is_a: MP:0003055 ! abnormal long bone epiphyseal plate morphology [Term] id: MP:0000166 name: abnormal chondrocyte morphology def: "any structural anomaly of a polymorphic cell that forms cartilage" [CL:0000138] synonym: "abnormal chondrocytes" BROAD [] is_a: MP:0000163 ! abnormal cartilage morphology [Term] id: MP:0000167 name: decreased chondrocyte number def: "fewer than normal numbers of polymorphic cells that form cartilage" [CL:0000138] synonym: "decreased chondrocyte cell number" EXACT [] synonym: "decreased number of chondrocytes" EXACT [] synonym: "reduced chondrocyte numbers" EXACT [] is_a: MP:0000166 ! abnormal chondrocyte morphology [Term] id: MP:0000168 name: abnormal bone marrow development def: "anomaly in the formation of the soft, pulpy tissue filling the medullary cavities of bones" [ISBN:0-683-40008-8] synonym: "abnormal bone marrow formation" EXACT [] is_a: MP:0002450 ! abnormal lymph organ development [Term] id: MP:0000172 name: abnormal bone marrow cell number def: "increased or decreased number of cells that make up the core cavities of bones when compared to controls" [MGI:tc] is_a: MP:0002398 ! abnormal bone marrow cell morphology/development [Term] id: MP:0000175 name: absent bone marrow cell alt_id: MP:0000342 def: "lack of all cells that make up the core cavities of bones" [MGI:cwg] synonym: "absence of bone marrow cell" EXACT [] synonym: "Loss of bone marrow cell" RELATED [] synonym: "loss of bone marrow cell" RELATED [] is_a: MP:0000333 ! decreased bone marrow cell number [Term] id: MP:0000176 name: obsolete bone marrow occupied by adipocytes def: "OBSOLETE. anomalous appearance of fat-forming cells in the bone marrow" [MGI:cwg] is_obsolete: true [Term] id: MP:0000180 name: abnormal circulating cholesterol level alt_id: MP:0001549 alt_id: MP:0005177 def: "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" [ISBN:0-683-40008-8] synonym: "abnormal cholesterol level" BROAD [] synonym: "abnormal total circulating cholesterol level" NARROW [] synonym: "abnormal total plasma cholesterol level" NARROW [] synonym: "abnormal total serum cholesterol level" NARROW [] is_a: MP:0003947 ! abnormal cholesterol level is_a: MP:0003949 ! abnormal circulating lipid level [Term] id: MP:0000181 name: abnormal circulating LDL cholesterol level def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal blood LDL cholesterol level" EXACT [] synonym: "abnormal circulating beta-lipoprotein level" RELATED [] is_a: MP:0010330 ! abnormal circulating lipoprotein level is_a: MP:0020151 ! abnormal circulating non-HDL cholesterol level [Term] id: MP:0000182 name: increased circulating LDL cholesterol level def: "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" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "elevated circulating LDL cholesterol level" EXACT [] synonym: "elevated LDL cholesterol level" BROAD [] synonym: "high LDL cholesterol level" BROAD [] synonym: "increased circulating beta-lipoprotein level" RELATED [] synonym: "increased LDL cholesterol level" BROAD [] is_a: MP:0000181 ! abnormal circulating LDL cholesterol level is_a: MP:0005178 ! increased circulating cholesterol level [Term] id: MP:0000183 name: decreased circulating LDL cholesterol level def: "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" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased circulating beta-lipoprotein level" RELATED [] synonym: "decreased LDL cholesterol level" BROAD [] synonym: "low circulating LDL cholesterol level" EXACT [] synonym: "low LDL cholesterol level" BROAD [] synonym: "reduced circulating LDL cholesterol level" EXACT [] is_a: MP:0000181 ! abnormal circulating LDL cholesterol level is_a: MP:0005179 ! decreased circulating cholesterol level [Term] id: MP:0000184 name: abnormal circulating HDL cholesterol level alt_id: MP:0001555 def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal HDL cholesterol level" BROAD [] synonym: "abnormal HDL levels" BROAD [] is_a: MP:0000180 ! abnormal circulating cholesterol level is_a: MP:0010330 ! abnormal circulating lipoprotein level [Term] id: MP:0000186 name: decreased circulating HDL cholesterol level alt_id: MP:0002618 def: "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" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased HDL cholesterol level" BROAD [] synonym: "low circulating HDL cholesterol level" EXACT [] synonym: "low HDL cholesterol level" BROAD [] synonym: "low serum HDL level" NARROW [] synonym: "reduced circulating HDL level" EXACT [] is_a: MP:0000184 ! abnormal circulating HDL cholesterol level is_a: MP:0005179 ! decreased circulating cholesterol level [Term] id: MP:0000187 name: abnormal triglyceride level alt_id: MP:0001551 def: "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" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal triacylglycerol level" EXACT [] is_a: MP:0001547 ! abnormal lipid level [Term] id: MP:0000188 name: abnormal circulating glucose level alt_id: MP:0001557 def: "any anomaly in the concentration in the blood of the major monosaccharide of the body" [MGI:cwg] synonym: "abnormal blood glucose level" EXACT [] is_a: MP:0002078 ! abnormal glucose homeostasis is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0000189 name: hypoglycemia alt_id: MP:0001558 alt_id: MP:0002613 def: "low levels of plasma glucose in the circulating blood; this generally refers to a pathological state" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC synonym: "Decreased Blood Glucose Level" BROAD [] synonym: "hypoglycaemia" EXACT [] synonym: "low blood glucose levels" BROAD [] is_a: MP:0005560 ! decreased circulating glucose level [Term] id: MP:0000192 name: abnormal mineral level alt_id: MP:0001561 def: "any anomaly in the concentration of any inorganic substance that has importance in body functions" [ISBN:0-683-40008-8] is_a: MP:0005636 ! abnormal mineral homeostasis [Term] id: MP:0000194 name: increased circulating calcium level alt_id: MP:0001563 alt_id: MP:0001768 def: "abnormally high concentration of calcium ions in the circulating blood" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "hypercalcaemia" EXACT [] synonym: "hypercalcemia" EXACT [] synonym: "increased circulating calcium" EXACT [] is_a: MP:0001562 ! abnormal circulating calcium level is_a: MP:0014537 ! increased calcium level is_a: MP:0014547 ! increased circulating mineral level [Term] id: MP:0000195 name: decreased circulating calcium level alt_id: MP:0001564 alt_id: MP:0001769 def: "subnormal concentrations of calcium ions in the circulating blood" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased circulating calcium" EXACT [] synonym: "hypocalcaemia" EXACT [] synonym: "hypocalcemia" EXACT [] synonym: "reduced circulating calcium level" EXACT [] is_a: MP:0001562 ! abnormal circulating calcium level is_a: MP:0014538 ! decreased calcium level is_a: MP:0014548 ! decreased circulating mineral level [Term] id: MP:0000198 name: decreased circulating phosphate level alt_id: MP:0001567 alt_id: MP:0001774 def: "abnormally low concentrations of phosphates in the circulating blood" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "hypophosphataemia" EXACT [] synonym: "hypophosphatemia" EXACT [] synonym: "reduced circulating phospate level" EXACT [] is_a: MP:0001565 ! abnormal circulating phosphate level is_a: MP:0014546 ! decreased phosphate level is_a: MP:0014548 ! decreased circulating mineral level [Term] id: MP:0000199 name: abnormal circulating serum albumin level alt_id: MP:0001568 def: "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" [MESH:D12.776.034.841] synonym: "abnormal albumin level" BROAD [] is_a: MP:0005416 ! abnormal circulating protein level [Term] id: MP:0000202 name: abnormal circulating alkaline phosphatase level alt_id: MP:0001571 def: "any anomaly in the concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters; low levels are seen in cases of hypophosphatasia" [ISBN:0-683-40008-8] synonym: "abnormal alkaline phosphatase level" BROAD [] synonym: "abnormal AP level" BROAD [] synonym: "abnormal circulating ALP levels" EXACT [] xref: GO:0004035 is_a: MP:0001570 ! abnormal circulating enzyme level [Term] id: MP:0000203 name: abnormal circulating aspartate transaminase level alt_id: MP:0001572 def: "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" [ISBN:0-683-40008-8] synonym: "abnormal aspartate aminotransferase level" BROAD [] synonym: "abnormal aspartate transaminase level" BROAD [] synonym: "abnormal AST level" BROAD [] synonym: "abnormal circulating AAT level" EXACT [] synonym: "abnormal circulating ASAT level" EXACT [] synonym: "abnormal circulating serum glutamic oxaloacetic transaminase level" EXACT [] synonym: "abnormal circulating SGOT level" EXACT [] is_a: MP:0001570 ! abnormal circulating enzyme level [Term] id: MP:0000208 name: decreased hematocrit alt_id: MP:0001580 def: "less than the average percentage of a volume of a blood sample occupied by red blood cells" [MESH:E01.450.375.400] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased haematocrit" EXACT [] synonym: "reduced haematocrit" EXACT [] synonym: "reduced hematocrit" EXACT [] is_a: MP:0002596 ! abnormal hematocrit [Term] id: MP:0000215 name: absent erythrocytes def: "lack of mature red blood cells" [PMID:7830794] synonym: "absence of erythrocytes" EXACT [] synonym: "absence of RBCs" EXACT [] synonym: "absence of red blood cells" EXACT [] synonym: "absent definitive erythrocyte" EXACT [] is_a: MP:0002875 ! decreased erythrocyte cell number [Term] id: MP:0000216 name: absent erythroid progenitor cell def: "lack of progenitors of the erythrocyte lineage" [CL:0000038, PMID:7830794] synonym: "absence of erythrocyte precursors" EXACT [] synonym: "absent BFU-E" RELATED [] synonym: "absent blast forming unit erythroid" RELATED [] synonym: "absent burst forming unit erythroid" RELATED [] synonym: "absent CFU-E" RELATED [] synonym: "absent colony forming unit erythroid" RELATED [] synonym: "absent erythrocyte precursors" EXACT [] synonym: "absent erythroid stem cell" RELATED [] is_a: MP:0008973 ! decreased erythroid progenitor cell number [Term] id: MP:0000217 name: abnormal leukocyte cell number alt_id: MP:0001587 def: "any anomaly in the number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue" [CL:0000738, MESH:A11.118.637] synonym: "abnormal leucocyte cell number" EXACT [] synonym: "abnormal WBC cell" EXACT [] synonym: "abnormal white blood cell count" EXACT [] synonym: "abnormal white blood cell number" EXACT [] synonym: "leucocyte count abnormalities" EXACT [] synonym: "leukocyte count abnormalities" EXACT [] synonym: "white blood cell count abnormalities" EXACT [] synonym: "white blood cell number abnormalities" EXACT [] is_a: MP:0008246 ! abnormal leukocyte morphology is_a: MP:0011180 ! abnormal hematopoietic cell number [Term] id: MP:0000218 name: increased leukocyte cell number def: "greater than normal number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue" [CL:0000738, MESH:A11.118.637] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "increased leucocyte cell number" EXACT [] synonym: "increased leucocyte count" EXACT [] synonym: "increased leukocyte count" EXACT [] synonym: "increased WBC count" EXACT [] synonym: "increased WBC number" EXACT [] synonym: "increased white blood cell number" EXACT [] synonym: "leucocytosis" EXACT [] synonym: "leukocytosis" EXACT [] is_a: MP:0000217 ! abnormal leukocyte cell number is_a: MP:0011181 ! increased hematopoietic cell number [Term] id: MP:0000219 name: increased neutrophil cell number def: "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" [CL:0000775, https://orcid.org/0000-0003-3691-0324] synonym: "increased neutrophil count" EXACT [] synonym: "increased neutrophil number" EXACT [] synonym: "neutrophilia" EXACT [] is_a: MP:0000322 ! increased granulocyte number is_a: MP:0012440 ! abnormal neutrophil cell number [Term] id: MP:0000220 name: increased monocyte cell number def: "greater count of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood" [CL:0000576] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "increased monocyte count" EXACT [] synonym: "increased monocyte number" EXACT [] synonym: "monocytosis" EXACT [] is_a: MP:0000218 ! increased leukocyte cell number is_a: MP:0012441 ! abnormal monocyte cell number [Term] id: MP:0000221 name: decreased leukocyte cell number def: "reduction in the number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue" [CL:0000738, MESH:A11.118.637] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased leucocyte count" EXACT [] synonym: "decreased leukocyte count" EXACT [] synonym: "decreased WBC count" EXACT [] synonym: "decreased WBC number" EXACT [] synonym: "decreased white blood cell number" EXACT [] synonym: "leucocytopenia" EXACT [] synonym: "leucopenia" EXACT [] synonym: "leukocytopenia" EXACT [] synonym: "leukopenia" EXACT [] synonym: "lymphopenia" NARROW [] synonym: "reduced leucocyte cell number" EXACT [] synonym: "reduced leucocyte count" EXACT [] synonym: "reduced leukocyte cell number" EXACT [] synonym: "reduced leukocyte count" EXACT [] synonym: "reduced WBC count" EXACT [] synonym: "reduced WBC number" EXACT [] synonym: "reduced white blood cell number" EXACT [] is_a: MP:0000217 ! abnormal leukocyte cell number is_a: MP:0011182 ! decreased hematopoietic cell number [Term] id: MP:0000222 name: decreased neutrophil cell number def: "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" [CL:0000775, https://orcid.org/0000-0003-3691-0324] synonym: "decreased neutrophil count" EXACT [] synonym: "decreased neutrophil number" EXACT [] synonym: "neutropenia" EXACT [] synonym: "reduced neutrophil cell number" EXACT [] synonym: "reduced neutrophil count" EXACT [] is_a: MP:0000334 ! decreased granulocyte number is_a: MP:0012440 ! abnormal neutrophil cell number [Term] id: MP:0000223 name: decreased monocyte cell number def: "reduced count of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood" [CL:0000576, MGI:cwg] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased monocyte count" EXACT [] synonym: "decreased monocyte number" EXACT [] synonym: "monocytopenia" EXACT [] synonym: "reduced monocyte cell number" EXACT [] synonym: "reduced monocyte count" EXACT [] is_a: MP:0000221 ! decreased leukocyte cell number is_a: MP:0012441 ! abnormal monocyte cell number [Term] id: MP:0000226 name: abnormal mean corpuscular volume alt_id: MP:0001590 def: "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" [ISBN:0-683-40008-8, MGI:cwg] comment: MCV is calculated by dividing the hematocrit by the total number of RBCs and multiplying this number by ten (10). synonym: "abnormal MCV" EXACT [] synonym: "abnormal mean cell volume" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0000228 name: abnormal thrombopoiesis alt_id: MP:0000211 alt_id: MP:0000227 alt_id: MP:0001583 alt_id: MP:0001591 alt_id: MP:0001592 alt_id: MP:0002448 def: "abnormal development of the non-nucleated cells of the blood (platelets, thrombocytes) involved in blood coagulation" [MESH:G04.335.151.825.798] synonym: "abnormal thrombocyte development" RELATED [] synonym: "abnormal thrombocyte differentiation" RELATED [] is_a: MP:0001601 ! abnormal myelopoiesis is_a: MP:0004720 ! abnormal platelet morphology [Term] id: MP:0000229 name: abnormal megakaryocyte differentiation alt_id: MP:0001593 def: "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" [CL:0000556, ISBN:0721601464] synonym: "abnormal megacaryocyte differentiation" EXACT [] synonym: "abnormal megalocaryocyte differentiation" EXACT [] synonym: "abnormal megalokaryocyte differentiation" EXACT [] is_a: MP:0002417 ! abnormal megakaryocyte morphology is_a: MP:0005076 ! abnormal cell differentiation [Term] id: MP:0000230 name: abnormal systemic arterial blood pressure alt_id: MP:0001594 alt_id: MP:0002129 def: "altered tension of the blood within the systemic arteries" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC synonym: "heart/cardiovascular system: blood pressure anomalies" BROAD [] xref: MGI:2173589 is_a: MP:0001544 ! abnormal cardiovascular system physiology [Term] id: MP:0000231 name: hypertension alt_id: MP:0001595 def: "sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states" [ISBN:0-683-40008-8] is_a: MP:0002842 ! increased systemic arterial blood pressure [Term] id: MP:0000233 name: abnormal blood flow velocity alt_id: MP:0001597 def: "any anomaly in the rate of flow of the blood through vessels" [MGI:cwg] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0000237 name: obsolete decreased blood cell number def: "OBSOLETE. fewer than the normal numbers of the various types of blood cells" [PMID:10673499] synonym: "reduced blood cell number" EXACT [] synonym: "reduction in hematopoietic cell types" EXACT [] synonym: "reduction in hemopoietic cell types" EXACT [] is_obsolete: true replaced_by: MP:0011182 [Term] id: MP:0000238 name: absent pre-B cells alt_id: MP:0000349 def: "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" [MGI:tc, PMID:10673499] synonym: "Absence of pre-B cell" EXACT [] synonym: "absence of pre-B cell" EXACT [] synonym: "deficiency of pre-B cells" EXACT [] synonym: "Loss of pre-B cell" EXACT [] synonym: "loss of pre-B cell" EXACT [] is_a: MP:0008209 ! decreased pre-B cell number [Term] id: MP:0000239 name: absent common myeloid progenitor cells def: "lack of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages" [CL:0000049, PMID:10673499] synonym: "absence of myeloid colony forming progenitor cells" EXACT [] synonym: "absent cfu-gemm" RELATED [] synonym: "absent CFU-S" RELATED [] synonym: "absent CMPs" EXACT [] synonym: "absent colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte" RELATED [] synonym: "absent multipotential myeloid stem cell" RELATED [] synonym: "absent myeloid stem cell" RELATED [] synonym: "absent pluripotent stem cell (bone marrow)" RELATED [] synonym: "deficiency of myeloid colony forming progenitor cells" RELATED [] is_a: MP:0000172 ! abnormal bone marrow cell number is_a: MP:0008813 ! decreased common myeloid progenitor cell number [Term] id: MP:0000240 name: extramedullary hematopoiesis def: "formation and development of blood cells outside the bone marrow, e.g., in the spleen, liver, or lymph nodes" [MESH:G04.335.151.825.463] synonym: "EMH" EXACT [] synonym: "extramedullary haematopoiesis" EXACT [] synonym: "extramedullary haemopoiesis" EXACT [] synonym: "extramedullary hemopoiesis" EXACT [] synonym: "extramedullary myelopoiesis" NARROW [] is_a: MP:0002123 ! abnormal definitive hematopoiesis [Term] id: MP:0000242 name: impaired fertilization def: "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" [ISBN:0-683-40008-8] is_a: MP:0005410 ! abnormal fertilization [Term] id: MP:0000243 name: myoclonus def: "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" [ISBN:0-683-40008-8, MESH:C10.597.350.500] is_a: MP:0000743 ! muscle spasm is_a: MP:0000947 ! convulsive seizures [Term] id: MP:0000245 name: abnormal erythropoiesis alt_id: MP:0001608 def: "atypical process of the formation of enucleated fetal and adult erythrocytes" [ISBN:0-683-40008-8, MGI:tc] synonym: "abnormal definitive erythropoiesis" EXACT [] synonym: "abnormal erythrocyte development" EXACT [] synonym: "abnormal erythrocytopoiesis" EXACT [] synonym: "erythropoiesis abnormalities" EXACT [] is_a: MP:0002123 ! abnormal definitive hematopoiesis is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0000247 name: obsolete abnormal interleukin-10 physiology def: "OBSOLETE. functional anomaly of this factor that is a co-regulator of mast cell growth and produced by T and B cells" [https://orcid.org/0000-0002-0371-1954] comment: This term is obsolete. Instead, use the terms abnormal circulating interleukin-10 level (MP:0008590) and its children or abnormal interleukin-10 secretion (MP:0008659) and its children. synonym: "abnormal IL-10 physiology" EXACT [] is_obsolete: true consider: MP:0008590 consider: MP:0008659 [Term] id: MP:0000248 name: macrocytosis alt_id: MP:0001610 def: "condition in which erythrocytes are larger than normal in size" [ISBN:0-683-40008-8, MGI:cwg] synonym: "macrocythemia" EXACT [] synonym: "megalocythemia" EXACT [] synonym: "megalocytosis" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0000249 name: abnormal blood vessel physiology def: "any functional anomaly of any of the tubes that convey blood including the arteries, arterioles, capillaries, venules, and veins" [ISBN:0-683-40008-8] synonym: "abnormal blood vessel function" EXACT [] synonym: "blood vessel defects" BROAD [] synonym: "blood vessel physiology abnormalities" EXACT [] is_a: MP:0031170 ! abnormal vasculature physiology [Term] id: MP:0000250 name: abnormal vasoconstriction alt_id: MP:0001612 alt_id: MP:0005593 def: "anomaly in the narrowing of the blood vessels by smooth muscle contraction" [ISBN:0-683-40008-8, MESH:G09.330.582.400.920] synonym: "abnormal vascular smooth muscle contraction" EXACT [] is_a: MP:0005595 ! abnormal vascular smooth muscle physiology is_a: MP:0005620 ! abnormal muscle contractility [Term] id: MP:0000255 name: blood vessel congestion def: "obstruction of the normal flux of blood within the blood vessel network" [ISBN:0-683-40008-8, MGI:tc] synonym: "blood vasculature congestion" RELATED [] synonym: "congested blood vasculature" RELATED [] is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0000256 name: echinocytosis def: "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" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8, PMID:12594949] synonym: "burr erythrocyte" EXACT [] synonym: "crenation" EXACT [] synonym: "echinosis" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0000259 name: abnormal vascular development alt_id: MP:0001620 def: "aberrant process of vascular formation" [ISBN:0-683-40008-8] subset: IMPC_Prenatal synonym: "vascular development abnormalities" EXACT [] is_a: MP:0001614 ! abnormal blood vessel morphology is_a: MP:0002925 ! abnormal cardiovascular development [Term] id: MP:0000260 name: abnormal angiogenesis alt_id: MP:0001621 def: "aberrant process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "angiogenesis abnormalities" EXACT [] is_a: MP:0000259 ! abnormal vascular development [Term] id: MP:0000262 name: poor arterial differentiation def: "failure of or inadequate acquisition of the characteristics and/or functions of the arteries" [ISBN:0-683-40008-8] is_a: MP:0003410 ! abnormal artery development [Term] id: MP:0000263 name: absent organized vascular network def: "formation of vasculature, but failure to differentiate into stereotypic organized pattern" [PMID:9949198] synonym: "absence of organized vascular network" EXACT [] is_a: MP:0001622 ! abnormal vasculogenesis [Term] id: MP:0000264 name: failure of vascular branching def: "failure of vasculature to form divisions (offshoots)" [PMID:9949198] is_a: MP:0003227 ! abnormal vascular branching morphogenesis [Term] id: MP:0000265 name: blood vessel atresia def: "abnormal closure or absence of the lumen of one or more blood vessels" [ISBN:0-683-40008-8] synonym: "atretic blood vasculature" RELATED [] synonym: "atretic blood vessel" EXACT [] synonym: "blood vasculature atresia" RELATED [] is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0000266 name: abnormal heart morphology alt_id: MP:0000271 def: "any structural anomaly of the hollow, muscular organ that maintains the circulation of the blood" [MESH:A07.541, PMID:7477375] subset: CvDC_Terms subset: Europhenome_Terms subset: IMPC_Prenatal synonym: "abnormal cardiac morphology" EXACT [] synonym: "abnormal heart" BROAD [] synonym: "cardiac abnormalities" BROAD [] synonym: "cardiac defects" BROAD [] synonym: "cardiac dysplasia" EXACT [] synonym: "heart abnormalities" BROAD [] synonym: "heart defects" BROAD [] xref: GO:0007505 is_a: MP:0002127 ! abnormal cardiovascular system morphology [Term] id: MP:0000267 name: abnormal heart development alt_id: MP:0001624 def: "aberrant formation or incomplete differentiation of the heart" [https://orcid.org/0000-0003-3691-0324, PMID:9949198] subset: IMPC_Prenatal synonym: "abnormal cardiac development" EXACT [] synonym: "cardiac development abnormalities" EXACT [] is_a: MP:0000266 ! abnormal heart morphology is_a: MP:0002925 ! abnormal cardiovascular development [Term] id: MP:0000268 name: obsolete abnormal anterior cardiac development def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal cardiac development, anterior" EXACT [] synonym: "cardiac development abnormalities, anterior" EXACT [] is_obsolete: true [Term] id: MP:0000269 name: abnormal heart looping def: "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" [GO:0001947] synonym: "abnormal cardiac looping" EXACT [] synonym: "abnormal looping morphogenesis" BROAD [] is_a: MP:0000267 ! abnormal heart development [Term] id: MP:0000270 name: abnormal heart tube morphology def: "any structural anomaly of the primitive epithelial cardiac tube before the division into the chambers of the mature heart" [ISBN:0-683-40008-8] synonym: "abnormal cardiac tube morphology" EXACT [] synonym: "abnormal primitive heart morphology" EXACT [] synonym: "heart tube abnormalities" BROAD [] synonym: "heart tube dysplasia" EXACT [] is_a: MP:0000267 ! abnormal heart development [Term] id: MP:0000272 name: abnormal aorta morphology def: "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" [ISBN:0-683-40008-8, MESH:A07.231.114.056] subset: CvDC_Terms synonym: "abnormal aortae morphology" EXACT [] synonym: "aorta abnormalities" BROAD [] synonym: "aorta dysplasia" EXACT [] xref: Fyler:1453 xref: MA:0000062 is_a: MP:0011655 ! abnormal systemic artery morphology [Term] id: MP:0000273 name: overriding aortic valve def: "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" [ISBN:0-683-40008-8, MGI:cml] subset: CvDC_Terms synonym: "aortic dextroposition" EXACT [] synonym: "DA" EXACT [] synonym: "dextroposition of the aorta" EXACT [] synonym: "overriding aorta" EXACT [] xref: Fyler:1432 is_a: MP:0010426 ! abnormal heart and great artery attachment [Term] id: MP:0000274 name: enlarged heart def: "increase over normal size of the heart" [PMID:7477375] synonym: "cardiomegaly" EXACT [] synonym: "increased heart size" EXACT [] synonym: "macrocardia" EXACT [] synonym: "megacardia" EXACT [] synonym: "megalocardia" EXACT [] is_a: MP:0005406 ! abnormal heart size is_a: MP:0031094 ! organomegaly [Term] id: MP:0000275 name: heart hyperplasia def: "increase in the number of normal cells in normal arrangement in the heart, typically resulting in increased size" [PMID:7926784] synonym: "hyperplastic heart" EXACT [] is_a: MP:0000274 ! enlarged heart [Term] id: MP:0000276 name: heart right ventricle hypertrophy def: "enlargement of heart right ventricular wall from the increase in size of its cells" [https://orcid.org/0000-0003-3691-0324, https://orcid.org/0000-0003-4606-0597] subset: CvDC_Terms synonym: "hypertrophic right ventricle" EXACT [] synonym: "right ventricle hypertrophy" EXACT [] synonym: "right ventricular hypertrophy" EXACT [] xref: Fyler:3609 is_a: MP:0001625 ! cardiac hypertrophy is_a: MP:0010563 ! increased heart right ventricle size is_a: MP:0010630 ! abnormal cardiac muscle tissue morphology is_a: MP:0031534 ! abnormal heart right ventricle wall morphology [Term] id: MP:0000277 name: abnormal heart shape def: "any anomaly in the characteristic surface outline or contour of the heart" [https://orcid.org/0000-0003-3691-0324] synonym: "heart shape abnormalities" EXACT [] is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0000278 name: abnormal myocardial fiber morphology alt_id: MP:0002994 def: "any structural anomaly of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart" [PMID:7926784] synonym: "abnormal adult cardiomyocyte morphology" EXACT [] synonym: "abnormal cardiac muscle cell morphology" EXACT [] synonym: "abnormal myocardial cell morphology" EXACT [] synonym: "abnormal myocardial fibers" BROAD [] synonym: "abnormal myocardial fibre morphology" EXACT [] synonym: "abnormal myocardial fibres" BROAD [] synonym: "myocardial fiber dysplasia" EXACT [] synonym: "myocardial fibers abnormalities" BROAD [] synonym: "myocardial fibre dysplasia" EXACT [] synonym: "myocardial fibres abnormalities" BROAD [] is_a: MP:0004087 ! abnormal muscle fiber morphology is_a: MP:0005329 ! abnormal myocardium layer morphology [Term] id: MP:0000279 name: ventricular hypoplasia def: "decrease in the number of normal cells in normal arrangement in the heart ventricle, typically resulting in decreased size" [ISBN:0-683-40008-8] synonym: "hypoplasia of ventriculum" EXACT [] synonym: "hypoplastic ventriculum" EXACT [] is_a: MP:0002188 ! small heart is_a: MP:0005294 ! abnormal heart ventricle morphology [Term] id: MP:0000280 name: thin ventricular wall def: "decreased depth of the cardiac wall of the heart ventricles" [PMID:9362461] is_a: MP:0020135 ! abnormal heart ventricle wall thickness [Term] id: MP:0000281 name: abnormal interventricular septum morphology alt_id: MP:0005484 def: "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" [MESH:A07.541.459.750] subset: CvDC_Terms synonym: "abnormal ventricular septum morphology" EXACT [] synonym: "interventricular septum dysplasia" EXACT [] synonym: "ventricular septum dysplasia" EXACT [] xref: Fyler:1815 is_a: MP:0005294 ! abnormal heart ventricle morphology is_a: MP:0006113 ! abnormal heart septum morphology [Term] id: MP:0000282 name: abnormal interatrial septum morphology def: "any structural anomaly of the thin membranous structure between the two heart atria" [MESH:A07.541.459] subset: CvDC_Terms synonym: "abnormal atrial septum morphology" EXACT [] synonym: "atrial septum dysplasia" EXACT [] synonym: "interatrial septum dysplasia" EXACT [] xref: Fyler:2002 is_a: MP:0003105 ! abnormal heart atrium morphology is_a: MP:0006113 ! abnormal heart septum morphology [Term] id: MP:0000284 name: double outlet right ventricle alt_id: MP:0000283 def: "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" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "dextraposed ascending aorta" EXACT [] synonym: "DORV" EXACT [] synonym: "double outlet heart right ventricle" EXACT [] synonym: "double-outflow right ventricle" EXACT [] xref: Fyler:0600 xref: Fyler:600 is_a: MP:0010426 ! abnormal heart and great artery attachment [Term] id: MP:0000285 name: abnormal heart valve morphology def: "any structural anomaly of the membranous folds of the heart that prevent reflux of fluid" [MESH:A07.541.510, PMID:7926784] synonym: "abnormal cardiac valve morphology" EXACT [] synonym: "cardiac valve dysplasia" EXACT [] synonym: "heart valve dysplasia" EXACT [] synonym: "valve abnormalities" BROAD [] synonym: "valve defects" BROAD [] is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0000286 name: abnormal mitral valve morphology def: "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)" [ISBN:0-683-40008-8, MESH:A07.541.510.507, PMID:9949198] subset: CvDC_Terms synonym: "abnormal bicuspid valve morphology" EXACT [] synonym: "abnormal left atrioventricular valve morphology" EXACT [] synonym: "abnormal left AV valve morphology" EXACT [] synonym: "abnormal mitral valvar morphology" EXACT [] synonym: "mitral valve dysplasia" EXACT [] xref: Fyler:1508 is_a: MP:0002745 ! abnormal atrioventricular valve morphology [Term] id: MP:0000287 name: heart valve hypoplasia def: "decrease in the number of normal cells in normal arrangement in any of the heart valves, typically resulting in decreased size" [PMID:9362461] synonym: "hypoplastic heart valves" EXACT [] is_a: MP:0000285 ! abnormal heart valve morphology [Term] id: MP:0000288 name: abnormal pericardium morphology def: "any structural anomaly of the fibroserous membrane covering the heart and beginning of the great vessels" [ISBN:0-683-40008-8, MGI:cml, PMID:10072433] subset: CvDC_Terms subset: IMPC_Prenatal synonym: "abnormal pericaridal sac morphology" EXACT [] synonym: "pericardial abnormalities" BROAD [] synonym: "pericardium dysplasia" EXACT [] xref: Fyler:1900 is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0000291 name: enlarged pericardium def: "extended fibroserous membrane covering the heart and beginning of the great vessels" [PMID:7477375] synonym: "enlarged pericardial sac" EXACT [] synonym: "increased pericardium size" EXACT [] is_a: MP:0000288 ! abnormal pericardium morphology [Term] id: MP:0000292 name: distended pericardium def: "an expansion in the volume of the sac-like structure contained by the outer parietal layer of the pericardium" [https://orcid.org/0000-0003-3691-0324] synonym: "distended pericardial sacs" EXACT [] is_a: MP:0000288 ! abnormal pericardium morphology [Term] id: MP:0000293 name: absent myocardial trabeculae alt_id: MP:0000294 def: "absence of the supporting bundles of muscular fibers lining the walls of the heart" [https://orcid.org/0000-0003-3691-0324] synonym: "absence of trabeculae" EXACT [] synonym: "absent trabeculae" EXACT [] synonym: "failure of myocardial trabecular formation" EXACT [] synonym: "failure of trabecular formation" EXACT [] is_a: MP:0002189 ! abnormal myocardial trabeculae morphology [Term] id: MP:0000295 name: trabecula carnea hypoplasia def: "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" [PMID:7477375] subset: CvDC_Terms synonym: "hypoplastic trabecula carnea" EXACT [] synonym: "poorly developed trabecula carnea" EXACT [] synonym: "poorly developed ventricular trabeculae" EXACT [] is_a: MP:0004067 ! abnormal trabecula carnea morphology is_a: MP:0010502 ! ventricle myocardium hypoplasia is_a: MP:0010503 ! myocardial trabeculae hypoplasia [Term] id: MP:0000296 name: absent trabeculae carneae def: "missing supporting bundles of muscular fibers lining the walls of the ventricles of the heart" [PMID:9362461] synonym: "absence of ventricular trabeculae" EXACT [] synonym: "absent columnae carneae" EXACT [] synonym: "absent fleshy beams" EXACT [] synonym: "absent Rathke bundles" EXACT [] synonym: "absent ventricular trabeculae" EXACT [] is_a: MP:0000293 ! absent myocardial trabeculae is_a: MP:0004067 ! abnormal trabecula carnea morphology [Term] id: MP:0000297 name: abnormal atrioventricular cushion morphology def: "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" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "abnormal endocardial cushion" BROAD [] synonym: "abnormal endocardial cushion morphology" BROAD [] synonym: "atrioventricular cushion dysplasia" EXACT [] synonym: "endocardial cushion abnormalities" BROAD [] xref: GO:0007505 is_a: MP:0006107 ! abnormal fetal atrioventricular canal morphology [Term] id: MP:0000298 name: absent atrioventricular cushions def: "absence of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal" [https://orcid.org/0000-0003-3691-0324] synonym: "absence of endocardial cushion" BROAD [] synonym: "absent endocardial cushion" BROAD [] is_a: MP:0000297 ! abnormal atrioventricular cushion morphology [Term] id: MP:0000299 name: failure of atrioventricular cushion closure def: "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" [PMID:7477375] synonym: "atrioventricular cushion closure failure" EXACT [] synonym: "failure of endocardial cushion closure" EXACT [] synonym: "failure of endocardial cushion fusion" EXACT [] synonym: "failure of endocardial cushions to fuse" EXACT [] is_a: MP:0000297 ! abnormal atrioventricular cushion morphology is_a: MP:0010599 ! abnormal fetal atrioventricular canal septation [Term] id: MP:0000300 name: thin atrioventricular cushion def: "reduced thickness of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal" [PMID:9362461] synonym: "thin endocardial cushions" BROAD [] is_a: MP:0000301 ! decreased atrioventricular cushion size [Term] id: MP:0000301 name: decreased atrioventricular cushion size def: "smaller than normal mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal" [ISBN:0-683-40008-8, PMID:7477377] synonym: "decreased endocardial cushion size" BROAD [] synonym: "decreased size of endocardial cushions" BROAD [] synonym: "reduced atrioventricular cushion size" EXACT [] synonym: "reduced endocardial cushion size" BROAD [] synonym: "reduced size of endocardial cushions" BROAD [] is_a: MP:0000297 ! abnormal atrioventricular cushion morphology [Term] id: MP:0000304 name: abnormal cardiac stroke volume alt_id: MP:0001628 def: "anomaly in the volume of blood pushed into the aorta with each beat of the heart" [MESH:E01.370.370.380.150.700, MGI:cwg] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0000306 name: obsolete abnormal pulse alt_id: MP:0001630 def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0004085 [Term] id: MP:0000307 name: obsolete abnormal heart sounds alt_id: MP:0001631 def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000313 name: abnormal cell death alt_id: MP:0001647 def: "any anomaly in the cessation of function at the cellular level" [ISBN:0-683-40008-8] synonym: "abnormal cell viability" EXACT [] synonym: "abnormal cellular death" EXACT [] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0000314 name: schistocytosis def: "the appearance of poikilocytes in the blood that owe their abnormal shape to fragmentation occurring as the cells flow through damaged small vessels" [https://orcid.org/0000-0002-6490-7723, PMID:12594949] synonym: "fragmented erythrocytes" EXACT [] synonym: "fragmented red blood cells" RELATED [] synonym: "schizocytosis" EXACT [] is_a: MP:0002643 ! poikilocytosis [Term] id: MP:0000315 name: hemoglobinuria def: "the presence of hemoglobin in the urine, including certain closely related pigments that are formed from slight alteration of the hemoglobin molecule" [https://orcid.org/0000-0002-6490-7723, PMID:12594949] synonym: "haemoglobinuria" EXACT [] synonym: "increased urine haemoglobin level" EXACT [] synonym: "increased urine hemoglobin level" EXACT [] is_a: MP:0002962 ! increased urine protein level [Term] id: MP:0000316 name: cellular necrosis def: "pathologic death of cells, usually from irreversible damage" [ISBN:0-683-40008-8] synonym: "necrotic cell" EXACT [] synonym: "necrotic cells" EXACT [] is_a: MP:0000313 ! abnormal cell death [Term] id: MP:0000317 name: obsolete abnormal cell number def: "OBSOLETE. any anomaly in the numbers of cells" [MGI:cwg] is_obsolete: true [Term] id: MP:0000318 name: obsolete increased cell number def: "OBSOLETE. greater than expected number of cells" [MGI:cwg] is_obsolete: true [Term] id: MP:0000319 name: obsolete increased activated B cell number def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "increased activated B-cell number" EXACT [] is_obsolete: true [Term] id: MP:0000321 name: increased bone marrow cell number alt_id: MP:0000173 def: "increased number of cells that make up the core cavities of bones when compared to the normal state" [MGI:tc] synonym: "bone marrow hypercellularity" EXACT [] synonym: "bone marrow hyperplasia" NARROW [] synonym: "hypercellular bone marrow" EXACT [] synonym: "hyperplastic bone marrow" NARROW [] synonym: "increased bone marrow cellularity" EXACT [] is_a: MP:0000172 ! abnormal bone marrow cell number [Term] id: MP:0000322 name: increased granulocyte number alt_id: MP:0000719 def: "greater than expected number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils" [MGI:cwg] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "granulocytosis" EXACT [] is_a: MP:0000218 ! increased leukocyte cell number is_a: MP:0020201 ! abnormal granulocyte number [Term] id: MP:0000324 name: increased mast cell number def: "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" [MESH:A.11.329.427] synonym: "mastocytosis" EXACT [] is_a: MP:0000322 ! increased granulocyte number is_a: MP:0020203 ! abnormal mast cell number [Term] id: MP:0000327 name: hemosiderinuria def: "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" [https://orcid.org/0000-0002-6490-7723, PMID:12594949] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0000328 name: increased enterocyte cell number def: "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" [CL:0000584] synonym: "increased enterocyte number" EXACT [] synonym: "increased intestinal cell number" BROAD [] is_a: MP:0000481 ! abnormal enterocyte cell number [Term] id: MP:0000329 name: obsolete decreased cell number def: "OBSOLETE. fewer than expected number of cells" [MGI:cwg] synonym: "reduced cell number" EXACT [] is_obsolete: true [Term] id: MP:0000330 name: obsolete decreased activated B cell number def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "decreased activated B lymphocyte number" EXACT [] synonym: "decreased activated B-cell number" EXACT [] is_obsolete: true [Term] id: MP:0000332 name: hemoglobinemia def: "the presence of free hemoglobin in the blood plasma, an indication of significant intravascular hemolysis" [https://orcid.org/0000-0002-6490-7723, PMID:12594949] synonym: "haemoglobinaemia" EXACT [] synonym: "haemoglobinemia" EXACT [] is_a: MP:0014501 ! increased circulating protein level [Term] id: MP:0000333 name: decreased bone marrow cell number alt_id: MP:0000174 def: "decreased number of cells that make up the core cavities of bones when compared to the normal state" [MGI:tc, PMID:10716451] synonym: "bone marrow hypocellularity" EXACT [] synonym: "bone marrow hypoplasia" NARROW [] synonym: "decreased bone marrow cellularity" EXACT [] synonym: "hypocellular bone marrow" EXACT [] synonym: "hypoplastic bone marrow" NARROW [] synonym: "reduced bone marrow cell number" EXACT [] synonym: "reduced bone marrow cellularity" EXACT [] is_a: MP:0000172 ! abnormal bone marrow cell number [Term] id: MP:0000334 name: decreased granulocyte number alt_id: MP:0000723 def: "fewer than expected number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils" [MGI:cwg] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "agranulocytosis" EXACT [] synonym: "granulocytopenia" EXACT [] synonym: "reduced granulocyte number" EXACT [] is_a: MP:0000221 ! decreased leukocyte cell number is_a: MP:0020201 ! abnormal granulocyte number [Term] id: MP:0000336 name: decreased mast cell number def: "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" [MESH:A.11.329.427] synonym: "reduced mast cell number" EXACT [] is_a: MP:0000334 ! decreased granulocyte number is_a: MP:0020203 ! abnormal mast cell number [Term] id: MP:0000339 name: decreased enterocyte cell number def: "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" [CL:0000584] synonym: "decreased intestinal cell number" BROAD [] synonym: "reduced enterocyte number" EXACT [] synonym: "reduced intestinal cell number" BROAD [] is_a: MP:0000481 ! abnormal enterocyte cell number [Term] id: MP:0000340 name: obsolete absence of cell def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "loss of cell" EXACT [] is_obsolete: true [Term] id: MP:0000341 name: abnormal bile color def: "any change in the color of the bile from the normal yellowish brown or green" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal bile colour" EXACT [] is_a: MP:0005085 ! abnormal gallbladder physiology [Term] id: MP:0000343 name: abnormal response to cardiac infarction def: "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" [ISBN:0-683-40008-8, MESH:C14.280.647.500] synonym: "altered response to cardiac infarction" EXACT [] is_a: MP:0001544 ! abnormal cardiovascular system physiology is_a: MP:0005164 ! abnormal response to injury [Term] id: MP:0000344 name: absent Cajal-Retzius cell alt_id: MP:0000793 alt_id: MP:0000817 def: "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" [MGI:tc, PMID:10716451] synonym: "absence of Cajal-Retzius cell" EXACT [] synonym: "loss of Cajal-Retzius cell" BROAD [] is_a: MP:0008031 ! decreased Cajal-Retzius cell number [Term] id: MP:0000346 name: broad head def: "a greater ear- to -ear distance resulting in the appearance of a wide face and a flattened snout" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms is_a: MP:0011495 ! abnormal head shape [Term] id: MP:0000348 name: abnormal aerobic fitness def: "any change in the metabolism resulting in an altered ability to do physical work; for example, alterations in running capacity" [https://orcid.org/0000-0003-3691-0324, RGD:cur] is_a: MP:0005266 ! abnormal metabolism [Term] id: MP:0000350 name: abnormal cell proliferation def: "anomaly in the ability of a cell population to undergo expansion by cell division" [ISBN:0-683-40008-8] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0000351 name: increased cell proliferation def: "increase in the expansion rate of a cell population by cell division" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0000350 ! abnormal cell proliferation [Term] id: MP:0000352 name: decreased cell proliferation def: "reduction in the expansion rate of a cell population by cell division" [https://orcid.org/0000-0003-3691-0324] synonym: "reduced cell proliferation" EXACT [] is_a: MP:0000350 ! abnormal cell proliferation [Term] id: MP:0000353 name: obsolete Abnormal Cell Size def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000354 name: obsolete Increased Cell Size def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000355 name: obsolete Increased Purkinje Cell Size def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000356 name: obsolete Decreased Cell Size def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000357 name: obsolete Decreased Purkinje Cell Size def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000358 name: abnormal cell morphology alt_id: MP:0000311 alt_id: MP:0000312 def: "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" [MESH:A11, MGI:cwg] synonym: "abnormal cell" BROAD [] synonym: "abnormal cell content" NARROW [] synonym: "abnormal cell content or morphology" EXACT [] synonym: "cell abnormalities" BROAD [] synonym: "cellular abnormalities" BROAD [] is_a: MP:0005384 ! cellular phenotype [Term] id: MP:0000359 name: abnormal mast cell morphology def: "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" [ISBN:068340007X, MESH:A.11.329.427] is_a: MP:0002441 ! abnormal granulocyte morphology [Term] id: MP:0000360 name: obsolete absent metachromatic granules def: "OBSOLETE. lack of intracellular storage compartments that stain a different color than that of the dye used" [ISBN:0-683-40008-8, MGI:cwg] is_obsolete: true [Term] id: MP:0000361 name: decreased mast cell protease storage def: "reduced amounts of proteolytic enzymes stored in mast cells" [MGI:cwg] synonym: "reduced mast cell protease storage" EXACT [] synonym: "reduced storage of mast-cell proteases" EXACT [] is_a: MP:0000359 ! abnormal mast cell morphology [Term] id: MP:0000362 name: decreased mast cell histamine storage def: "reduced amounts of histamine stored in mast cells" [MGI:cwg] synonym: "decreased histamine storage" BROAD [] synonym: "reduced histamine storage" BROAD [] synonym: "reduced mast cell histamine storage" EXACT [] synonym: "reduced storage of histamine" BROAD [] is_a: MP:0000359 ! abnormal mast cell morphology [Term] id: MP:0000363 name: obsolete Abnormal Cell Behavior def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000364 name: abnormal vascular regression def: "premature regression or persistence of vessels programmed to regress and/or loss of vessels not programmed to regress" [https://orcid.org/0000-0003-4606-0597] synonym: "abnormal apoptosis involved in patterning of blood vessels" EXACT [] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0009577 ! abnormal developmental vascular remodeling [Term] id: MP:0000365 name: obsolete Abnormal Hematopoietic/Hemopoietic/ Hematogenic/Hemogenic/Sanguifacient Cell Behavior def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000366 name: obsolete Impaired Proliferative Response of Hematopoietic Cells to Mitogens def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000367 name: abnormal coat/ hair morphology def: "any anomaly in the color, structure, growth, or texture of the hair" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal coat/ hair" BROAD [] synonym: "abnormal pelage morphology" EXACT [] synonym: "coat/ hair abnormalities" BROAD [] synonym: "coat/ hair anomalies" BROAD [] is_a: MP:0010678 ! abnormal skin adnexa morphology [Term] id: MP:0000370 name: head blaze def: "the appearance of a stripe of white fur on the head" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002075 ! abnormal coat/hair pigmentation [Term] id: MP:0000371 name: diluted coat color def: "a coat color that appears lighter in intensity or paler than normal" [https://orcid.org/0000-0003-3691-0324] subset: IMPC subset: Sanger_Terms synonym: "dilute coat" EXACT [] synonym: "diluted coat colour" EXACT [] synonym: "light coat color" EXACT [] synonym: "light coat colour" EXACT [] synonym: "pale coat color" EXACT [] synonym: "pale coat colour" EXACT [] is_a: MP:0002075 ! abnormal coat/hair pigmentation [Term] id: MP:0000372 name: irregular coat pigmentation def: "uneven coloration of the hair" [MGI:llw2] subset: Europhenome_Terms subset: IMPC is_a: MP:0002075 ! abnormal coat/hair pigmentation [Term] id: MP:0000373 name: belly spot def: "the appearance of a round area of white fur on the belly" [https://orcid.org/0000-0003-3691-0324] subset: IMPC subset: Sanger_Terms is_a: MP:0002938 ! white spotting [Term] id: MP:0000374 name: obsolete pink fur hue def: "OBSOLETE. hairs have a prominent pink tinge" [PMID:10769039] is_obsolete: true [Term] id: MP:0000376 name: folliculitis def: "inflammatory reaction in hair follicles" [ISBN:0-683-40008-8, PMID:8941642] is_a: MP:0000377 ! abnormal hair follicle morphology is_a: MP:0001846 ! increased inflammatory response [Term] id: MP:0000377 name: abnormal hair follicle morphology alt_id: MP:0000375 def: "any structural anomaly of the invagination of the epidermis from which the hair shaft develops" [MESH:A10.272.497.500] synonym: "abnormal hair follicle structure" EXACT [] synonym: "abnormal hair follicles" BROAD [] synonym: "hair follicle dysplasia" EXACT [] synonym: "hair follicle structure abnormalities" EXACT [] synonym: "hair follicles abnormalities" BROAD [] is_a: MP:0030572 ! abnormal pilosebaceous unit morphology [Term] id: MP:0000378 name: absent hair follicles def: "missing epidermal invaginations from which the hair shaft develops" [MESH:A10.272.497.500] is_a: MP:0000377 ! abnormal hair follicle morphology [Term] id: MP:0000379 name: decreased hair follicle number def: "fewer number of the epidermal invaginations from which the hair shaft develops" [MESH:A10.272.497.500] synonym: "reduced hair follicle number" EXACT [] is_a: MP:0000377 ! abnormal hair follicle morphology [Term] id: MP:0000380 name: small hair follicles def: "reduced size of the invagination of the epidermis from which the hair shaft develops" [MESH:A10.272.497.500, PMID:10469309] is_a: MP:0000377 ! abnormal hair follicle morphology [Term] id: MP:0000381 name: enlarged hair follicles def: "increased size of the epidermal invaginations from which the hair shaft develops" [MESH:A10.272.497.500] is_a: MP:0000377 ! abnormal hair follicle morphology [Term] id: MP:0000382 name: underdeveloped hair follicles def: "arrest of or retarded differentiation of the epidermal invaginations from which the hair shaft develops" [ISBN:0-683-40008-8, MESH:A10.272.497.500] is_a: MP:0003704 ! abnormal hair follicle development [Term] id: MP:0000383 name: abnormal hair follicle orientation def: "misaligned hair follicles; hair follicles that do not orient in a typical pattern" [PMID:9573048] subset: IMPC subset: Sanger_Terms is_a: MP:0000377 ! abnormal hair follicle morphology [Term] id: MP:0000384 name: distorted hair follicle pattern def: "twisted or contorted configuration of the arrangement of hair follicles in the skin" [PMID:10469309] is_a: MP:0000377 ! abnormal hair follicle morphology [Term] id: MP:0000385 name: obsolete distended hair follicles def: "OBSOLETE. follicles that have swollen or expanded from the skin" [J:53379] is_obsolete: true replaced_by: MP:0010699 [Term] id: MP:0000386 name: obsolete abnormal hair follicle root sheath def: "OBSOLETE. anomalies of the epidermal-derived layer surrounding the hair follicle; innermost of two layers" [MGI:cwg] comment: Obsolete. Use either abnormal hair follicle outer root sheath morphology (MP:0010684) or abnormal hair follicle inner root sheath morphology (MP:0010685). synonym: "hair follicle root sheath abnormalities" EXACT [] is_obsolete: true consider: MP:0010684 consider: MP:0010685 [Term] id: MP:0000387 name: disorganized inner root sheath cells def: "disorganization of the epithelial cells that resides in the inner root sheath of the hair follicle" [CL:0002560] synonym: "disorganised inner root sheath cells" EXACT [] is_a: MP:0010685 ! abnormal hair follicle inner root sheath morphology [Term] id: MP:0000388 name: absent hair follicle inner root sheath def: "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" [PMID:19211055] synonym: "absent inner root sheath" RELATED [] is_a: MP:0010685 ! abnormal hair follicle inner root sheath morphology [Term] id: MP:0000389 name: disorganized outer root sheath cells def: "disordered enveloping layer of cells of the hair follicle; surrounds inner root and is continuous with basal and spinous layers of the epidermis" [PMID:10469309] synonym: "disorganised outer root sheath cells" EXACT [] is_a: MP:0010684 ! abnormal hair follicle outer root sheath morphology [Term] id: MP:0000390 name: disorganized matrix sheath cells def: "disordered layer of matrix cells of the hair follicle" [PMID:10469309] synonym: "disorganised matrix sheath cells" EXACT [] is_a: MP:0010686 ! abnormal hair follicle matrix region morphology [Term] id: MP:0000391 name: premature hair follicle generation def: "early onset of hair follicle development" [PMID:9135074] is_a: MP:0003704 ! abnormal hair follicle development [Term] id: MP:0000392 name: accelerated hair follicle regression def: "earlier onset of catagen phase during the cyclic transformation of the hair follicle" [ISBN:0-8493-8372-2, MGI:llw2] is_a: MP:0003875 ! abnormal hair follicle regression [Term] id: MP:0000393 name: persistent hair follicle morphogenesis def: "continuous induction of de novo hair follicles in the epidermis" [J:51296] is_a: MP:0003704 ! abnormal hair follicle development [Term] id: MP:0000394 name: absent hair follicle melanin granules def: "absence of the pigment polymers located in the hair follicles" [MGI:llw2] synonym: "absence of melanin granules in hair follicle" EXACT [] synonym: "absent melanin granules in hair follicle" EXACT [] is_a: MP:0005072 ! abnormal hair follicle melanin granule morphology [Term] id: MP:0000395 name: obsolete abnormal hair types def: "OBSOLETE. any structural anomaly of the different subsets of types of hairs or change to the expected complement of different hair types" [PMID:9573048] is_obsolete: true consider: MP:0000367 consider: MP:0000397 consider: MP:0000400 consider: MP:0000402 consider: MP:0000405 [Term] id: MP:0000396 name: increased curvature of hairs def: "greater bending arch of the distinct C- or S- shaped curvature of the hairs" [J:4606] is_a: MP:0003809 ! abnormal hair shaft morphology [Term] id: MP:0000397 name: abnormal guard hair morphology def: "any structural anomaly of the long, straight truncal hairs that contain two air cells in the medulla" [ISBN:0-8493-8372-2] synonym: "abnormal monotrich hair morphology" EXACT [] is_a: MP:0000367 ! abnormal coat/ hair morphology [Term] id: MP:0000398 name: splitting of guard hairs def: "intercellular splits and kinks within or along the hair shaft of the long, straight truncal hairs that contain two air cells in the medulla" [ISBN:0-8493-8372-2, PMID:9808631] synonym: "splitting of monotrich hair" EXACT [] is_a: MP:0000397 ! abnormal guard hair morphology [Term] id: MP:0000399 name: increased curvature of guard hairs def: "greater bending arch of the guard hairs" [PMID:9573048] synonym: "increased curvature of monotrich hair" EXACT [] is_a: MP:0000396 ! increased curvature of hairs is_a: MP:0000397 ! abnormal guard hair morphology [Term] id: MP:0000400 name: abnormal awl hair morphology def: "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" [ISBN:0-8493-8372-2] is_a: MP:0000367 ! abnormal coat/ hair morphology [Term] id: MP:0000401 name: increased curvature of awl hairs def: "greater bending arch of the awl hairs" [PMID:9573048] is_a: MP:0000396 ! increased curvature of hairs is_a: MP:0000400 ! abnormal awl hair morphology [Term] id: MP:0000402 name: abnormal zigzag hair morphology def: "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" [ISBN:0-8493-8372-2] is_a: MP:0000367 ! abnormal coat/ hair morphology [Term] id: MP:0000403 name: increased curvature of zigzag hairs def: "greater bending arch of the zigzag hairs" [PMID:9573048] is_a: MP:0000396 ! increased curvature of hairs is_a: MP:0000402 ! abnormal zigzag hair morphology [Term] id: MP:0000404 name: decreased curvature of zigzag hairs def: "smaller bending arch of the zigzag hairs" [PMID:10804183] synonym: "reduced curvature of zigzag hairs" EXACT [] is_a: MP:0000402 ! abnormal zigzag hair morphology [Term] id: MP:0000405 name: abnormal auchene hair morphology def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-8493-8372-2] is_a: MP:0000367 ! abnormal coat/ hair morphology [Term] id: MP:0000406 name: increased curvature of auchene hairs def: "greater bending arch of the auchene hairs" [PMID:9573048] is_a: MP:0000396 ! increased curvature of hairs is_a: MP:0000405 ! abnormal auchene hair morphology [Term] id: MP:0000407 name: abnormal duvet hair morphology def: "any structural anomaly of the fine under hair of the coat" [MGI:cwg] is_a: MP:0000367 ! abnormal coat/ hair morphology [Term] id: MP:0000408 name: absent duvet hair def: "absence of the of the fine under hair of the coat" [MGI:cwg] synonym: "absence of duvet hair" EXACT [] is_a: MP:0000407 ! abnormal duvet hair morphology [Term] id: MP:0000410 name: waved hair def: "hair or fur having undulations or a sinusoidal shape" [PMID:9573048] subset: IMPC subset: Sanger_Terms synonym: "curly hair" EXACT [] synonym: "waved fur" EXACT [] synonym: "wavy hair" EXACT [] is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0000411 name: shiny fur def: "fur with a glossy or glistening appearance" [J:45065] is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0000412 name: excessive hair def: "greater amount of body hair compared to controls" [https://orcid.org/0000-0003-3691-0324] synonym: "hypertrichosis" EXACT [] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0000413 name: polyphalangy def: "increased number of phalanges in any of the digits" [https://orcid.org/0000-0003-3691-0324, J:13069] is_a: MP:0005306 ! abnormal phalanx morphology [Term] id: MP:0000414 name: alopecia def: "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" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "absence of hair" BROAD [] synonym: "absence of hair shaft" BROAD [] synonym: "absent hair shaft" BROAD [] synonym: "baldness" EXACT [] synonym: "hair loss" EXACT [] synonym: "hairless" RELATED [] synonym: "loss of hair" EXACT [] synonym: "no hair shaft" BROAD [] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0000416 name: sparse hair alt_id: MP:0000415 def: "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" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "hypotrichosis" BROAD [] synonym: "partial hair loss" RELATED [] synonym: "sparse fur" EXACT [] synonym: "thin coat" EXACT [] synonym: "thin hair" RELATED [] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0000417 name: short hair def: "reduced average length of the hairs" [J:64948] subset: IMPC subset: Sanger_Terms synonym: "decreased hair length" EXACT [] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0000418 name: focal hair loss alt_id: MP:0006368 def: "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" [ISBN:0-8493-8372-2] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "localized bare skin" RELATED [] synonym: "localized hair loss" RELATED [] synonym: "patchy fur" EXACT [] synonym: "patchy hair" EXACT [] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0000419 name: obsolete rough hair def: "OBSOLETE. greasy, matted appearance of the fur" [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000420 name: ruffled hair def: "fuzzy, irregular appearance of the hair" [J:50844] is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0000421 name: mottled coat def: "coat has spots, streaks, and/or blotches of a different color" [J:17194] synonym: "mottled fur" EXACT [] is_a: MP:0005366 ! variegated coat color [Term] id: MP:0000422 name: delayed hair appearance def: "late onset of the first appearance of the fur" [J:17792] synonym: "delayed hair growth" EXACT [] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0000423 name: delayed hair regrowth def: "slow initiation and asynchrony of the hair growth cycle (anagen) after catagen phase" [PMID:10742104] is_a: MP:0000427 ! abnormal hair cycle [Term] id: MP:0000424 name: retarded hair growth def: "slow growth of the hair, appears at normal time" [J:5476] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0000425 name: loss of eyelid cilia def: "inability to retain the eyelashes" [PMID:9420327] synonym: "ciliary madarosis" EXACT [] synonym: "loss of cilia" BROAD [] synonym: "loss of eyelashes" EXACT [] synonym: "madarosis" EXACT [] synonym: "milphosis" EXACT [] is_a: MP:0002073 ! abnormal hair growth is_a: MP:0013895 ! abnormal eyelid cilium morphology [Term] id: MP:0000426 name: ectopic hair growth def: "positional abnormality of hair" [J:24350] synonym: "heterotopic hair growth" EXACT [] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0000427 name: abnormal hair cycle def: "aberrant timing of growth and regression of the hair follicles" [https://orcid.org/0000-0002-8404-2907, MGI:llw2] is_a: MP:0010680 ! abnormal skin adnexa physiology [Term] id: MP:0000428 name: abnormal craniofacial morphology def: "any structural anomaly of the face or head affecting appearance" [ISBN:0-683-40008-8] subset: IMPC subset: Sanger_Terms synonym: "craniofacial abnormalities" BROAD [] synonym: "craniofacial defects" BROAD [] synonym: "craniofacial dysplasia" EXACT [] is_a: MP:0005382 ! craniofacial phenotype [Term] id: MP:0000430 name: absent maxillary shelf alt_id: MP:0000112 def: "missing bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:7914451] synonym: "absent maxillary palatal process" EXACT [] synonym: "absent palatal process of maxilla" EXACT [] synonym: "absent palatine process" EXACT [] is_a: MP:0004538 ! abnormal maxillary shelf morphology [Term] id: MP:0000431 name: absent palatine bone horizontal plate alt_id: MP:0000113 def: "missing bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:7914451] synonym: "absent horizontal plate" EXACT [] synonym: "absent palatal process of palatine bone" EXACT [] synonym: "absent palatine palatal process" EXACT [] synonym: "absent palatine shelf" EXACT [] is_a: MP:0004537 ! abnormal palatine bone horizontal plate morphology [Term] id: MP:0000432 name: abnormal head morphology def: "any structural anomaly of the portion of the body containing the brain and organs of sight, hearing, taste, and smell" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "head abnormalities" BROAD [] is_a: MP:0005378 ! growth/size/body region phenotype [Term] id: MP:0000433 name: microcephaly def: "an abnormally small head" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "decreased head size" EXACT [] synonym: "reduced head size" EXACT [] synonym: "small head" EXACT [] xref: Fyler:4310 is_a: MP:0011496 ! abnormal head size [Term] id: MP:0000434 name: megacephaly alt_id: MP:0001266 def: "an abnormally large size of the head" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "big head" EXACT [] synonym: "enlarged head" EXACT [] synonym: "increased head size" EXACT [] synonym: "large head" EXACT [] synonym: "macrocephaly" EXACT [] xref: Fyler:4335 is_a: MP:0011496 ! abnormal head size [Term] id: MP:0000435 name: shortened head def: "reduced anterior-posterior length of the head" [PMID:9256350] subset: Europhenome_Terms subset: IMPC synonym: "brachycephaly" RELATED [] is_a: MP:0011495 ! abnormal head shape [Term] id: MP:0000436 name: abnormal head movements alt_id: MP:0001390 def: "any anomaly in the motion of the portion of the body containing the brain and organs of sight, hearing, taste, and smell" [ISBN:0-683-40008-8] subset: IMPC subset: Sanger_Terms synonym: "abnormal head movement" EXACT [] is_a: MP:0001388 ! abnormal stationary movement [Term] id: MP:0000437 name: taut facial appearance def: "skin of face has appearance of being drawn or pulled tightly" [PMID:10769039] is_a: MP:0003743 ! abnormal facial morphology [Term] id: MP:0000438 name: abnormal cranium morphology def: "any structural anomaly of the bones of the head" [ISBN:0-683-40008-8] subset: CvDC_Terms subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal cranium" BROAD [] synonym: "abnormal skull" RELATED [] synonym: "abnormal skull morphology" RELATED [] synonym: "cranial abnormalities" BROAD [] synonym: "cranium dysplasia" EXACT [] synonym: "skull abnormalities" RELATED [] synonym: "skull anomaly" RELATED [] synonym: "skull anomaly, congenital" BROAD [] xref: Fyler:4134 xref: MA:0000316 is_a: MP:0002116 ! abnormal craniofacial bone morphology [Term] id: MP:0000439 name: enlarged cranium def: "increased size of the cranium" [https://orcid.org/0000-0003-3691-0324] synonym: "enlarged skull" RELATED [] synonym: "increased cranium size" EXACT [] synonym: "increased skull size" RELATED [] is_a: MP:0010031 ! abnormal cranium size [Term] id: MP:0000440 name: domed cranium def: "increased curvature to the hemispherical shape of the upper cranial case" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC synonym: "dome-shaped skull" EXACT [] synonym: "domed skull" RELATED [] is_a: MP:0000438 ! abnormal cranium morphology [Term] id: MP:0000441 name: increased cranium width def: "having an increased side-to-side, or lateral distance of the cranium" [https://orcid.org/0000-0003-3691-0324] synonym: "increased skull width" BROAD [] synonym: "wide skull" BROAD [] is_a: MP:0010031 ! abnormal cranium size [Term] id: MP:0000443 name: abnormal snout morphology alt_id: MP:0000444 def: "any structural anomaly of the anterior facial part of the face or muzzle containing the oral and nasal regions" [https://orcid.org/0000-0003-3691-0324] comment: The term muzzle has multiple meanings and can be ambiguous. It has been added as a broad synonym, and in this case, refers both to the protruding part of the face seen in many animal species. subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal muzzle morphology" BROAD [] synonym: "abnormal nose shape" NARROW [] synonym: "abnormal snout" BROAD [] synonym: "abnormal snout shape" NARROW [] synonym: "snout abnormalities" BROAD [] synonym: "snout dysplasia" BROAD [] synonym: "snout shape abnormalities" NARROW [] is_a: MP:0003743 ! abnormal facial morphology [Term] id: MP:0000445 name: short snout def: "reduced length of the anterior facial part of the muzzle" [PMID:9949198] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased snout length" EXACT [] synonym: "short nasal dorsum" NARROW [] synonym: "short nasal ridge" NARROW [] synonym: "short nose" NARROW [] synonym: "short nose ridge" NARROW [] is_a: MP:0030190 ! small snout [Term] id: MP:0000446 name: long snout def: "the anterior facial part of the muzzle having a length greater than seen in controls" [MGI:cwg] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "increased snout length" EXACT [] synonym: "long nose" NARROW [] is_a: MP:0000443 ! abnormal snout morphology [Term] id: MP:0000447 name: flattened snout def: "a snout flattened laterally along the whole length without the appearance of distinctive curvature" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0000443 ! abnormal snout morphology [Term] id: MP:0000448 name: pointed snout def: "muzzle tapers to a small tip, sharper angle than wild type" [PMID:7958926] is_a: MP:0000443 ! abnormal snout morphology [Term] id: MP:0000449 name: broad nasal bridge def: "wider than normal upper part of the ridge of the nose" [PMID:9949198] synonym: "broadened nasal bridge" EXACT [] synonym: "wide nasal bridge" EXACT [] synonym: "widened nasal bridge" EXACT [] is_a: MP:0030033 ! abnormal nasal bridge morphology [Term] id: MP:0000450 name: absent snout def: "absence of the anterior facial part of the face or muzzle containing the oral and nasal regions" [https://orcid.org/0000-0003-3691-0324] synonym: "absence of snout" EXACT [] synonym: "absent nose" NARROW [] is_a: MP:0000443 ! abnormal snout morphology [Term] id: MP:0000451 name: scaly muzzle def: "loss of the outer layer of the epidermis of the muzzle in thick, dry scale-like patches" [PMID:10419685] synonym: "scaly snout" EXACT [] is_a: MP:0000443 ! abnormal snout morphology [Term] id: MP:0000452 name: abnormal mouth morphology def: "any structural anomaly of the proximal portion of the digestive tract containing the oral cavity and bounded by the oral opening" [UBERON:0000165] comment: In vertebrates, the mouth extends to the pharynx and includes gums, lips, tongue and parts of the palate. Typically also includes the teeth, except where these protrude from the mouth (tusks). {xref="UBERON:0000165"} subset: CvDC_Terms subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "mouth abnormalities" BROAD [] synonym: "mouth dysplasia" EXACT [] synonym: "mouth malformation" EXACT [] xref: Fyler:4874 is_a: MP:0003743 ! abnormal facial morphology [Term] id: MP:0000453 name: absent mouth def: "congenital absence of the mouth" [PMID:8837770] synonym: "absence of mouth" EXACT [] synonym: "astomia" EXACT [] is_a: MP:0000452 ! abnormal mouth morphology [Term] id: MP:0000454 name: abnormal jaw morphology def: "any structural anomaly of the bony framework of the mouth where the teeth are held" [ISBN:0-683-40008-8] synonym: "jaw abnormalities" BROAD [] synonym: "jaw dysplasia" EXACT [] is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0000455 name: abnormal maxilla morphology alt_id: MP:0000089 def: "any structural anomaly of the upper bony framework of the mouth where the superior teeth are held" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal upper jaw morphology" EXACT [] synonym: "maxilla dysplasia" EXACT [] is_a: MP:0000454 ! abnormal jaw morphology [Term] id: MP:0000457 name: maxilla hypoplasia alt_id: MP:0000092 def: "decrease in the number of normal cells in normal arrangement in the maxilla, typically resulting in decreased size" [ISBN:0-683-40008-8, MGI:tc, PMID:10227294] synonym: "hypoplasia of maxilla" EXACT [] synonym: "hypoplasia of upper jaw" EXACT [] synonym: "hypoplastic maxilla" EXACT [] synonym: "hypoplastic upper jaw" EXACT [] is_a: MP:0004540 ! small maxilla is_a: MP:0030386 ! facial bone hypoplasia [Term] id: MP:0000458 name: abnormal mandible morphology alt_id: MP:0000086 def: "any structural anomaly of the lower bony framework of the mouth where the inferior teeth are held" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal lower jaw morphology" EXACT [] synonym: "mandible dysplasia" EXACT [] is_a: MP:0000454 ! abnormal jaw morphology [Term] id: MP:0000459 name: abnormal presacral vertebrae morphology def: "any structural anomaly of the vertebrae anterior to the sacrum" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0000137 ! abnormal vertebrae morphology [Term] id: MP:0000460 name: mandible hypoplasia def: "decrease in the number of normal cells in normal arrangement in the mandible, typically resulting in decreased size" [ISBN:0-683-40008-8, MGI:tc, PMID:10227294] synonym: "hypognathia" EXACT [] synonym: "hypoplasia of lower jaw" EXACT [] synonym: "hypoplasia of mandible" EXACT [] synonym: "hypoplastic lower jaw" EXACT [] synonym: "hypoplastic mandible" EXACT [] synonym: "mandibular hypoplasia" EXACT [] is_a: MP:0004592 ! small mandible is_a: MP:0030386 ! facial bone hypoplasia [Term] id: MP:0000461 name: decreased presacral vertebrae number def: "reduced number of the vertebrae anterior to the sacrum" [https://orcid.org/0000-0003-3691-0324] synonym: "decreased number of presacral vertebrae" EXACT [] synonym: "reduced number of presacral vertebrae" EXACT [] synonym: "reduced presacral vertebrae number" EXACT [] is_a: MP:0000459 ! abnormal presacral vertebrae morphology is_a: MP:0004645 ! decreased vertebrae number [Term] id: MP:0000462 name: abnormal digestive system morphology alt_id: MP:0000463 alt_id: MP:0002141 def: "any structural anomaly of the system dedicated to the mechanical, chemical, and enzymatic processing of food" [ISBN:0-683-40008-8, MGI:cwg] subset: IMPC_Prenatal synonym: "digestive system abnormalities" BROAD [] synonym: "digestive system defects" BROAD [] synonym: "digestive system dysplasia" EXACT [] synonym: "digestive system: dysmorphology" EXACT [] xref: MGI:2173601 is_a: MP:0005381 ! digestive/alimentary phenotype [Term] id: MP:0000464 name: increased presacral vertebrae number def: "greater number of the vertebrae anterior to the sacrum" [https://orcid.org/0000-0003-3691-0324] synonym: "increased number of presacral vertebrae" EXACT [] is_a: MP:0000459 ! abnormal presacral vertebrae morphology is_a: MP:0004644 ! increased vertebrae number [Term] id: MP:0000465 name: gastrointestinal hemorrhage def: "bleeding in the stomach and/or the intestines" [ISBN:0-683-40008-8, MGI:tc, PMID:10716451] synonym: "gastroenteric bleeding" EXACT [] synonym: "gastroenteric haemorrhage" EXACT [] synonym: "gastroenteric hemorrhage" EXACT [] synonym: "gastrointestinal bleeding" EXACT [] synonym: "gastrointestinal haemorrhage" EXACT [] is_a: MP:0001634 ! internal hemorrhage is_a: MP:0001663 ! abnormal digestive system physiology [Term] id: MP:0000466 name: esophageal epithelium hyperplasia def: "increase in the number of normal cells in normal arrangement in the esophageal epithelium, typically resulting in increased size" [https://orcid.org/0000-0003-3691-0324] synonym: "hyperplasia of the esophageal epithelium" EXACT [] synonym: "hyperplasia of the oesophageal epithelium" EXACT [] synonym: "hyperplastic esophageal epithelium" EXACT [] synonym: "oesophageal epithelium hyperplasia" EXACT [] is_a: MP:0000468 ! abnormal esophageal epithelium morphology [Term] id: MP:0000467 name: abnormal esophagus morphology def: "any structural anomaly of the part of the digestive canal through which food passes from the pharynx to the stomach" [ISBN:0-683-40008-8, MGI:tc] synonym: "abnormal oesophagus morphology" EXACT [] synonym: "esophageal dysplasia" EXACT [] synonym: "esophagus abnormalities" BROAD [] synonym: "esophagus dysplasia" EXACT [] synonym: "oesophageal dysplasia" EXACT [] synonym: "oesophagus abnormalities" BROAD [] synonym: "oesophagus dysplasia" EXACT [] is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0000468 name: abnormal esophageal epithelium morphology def: "any structural anomaly of the epithelial layer that lines the luminal space of the esophagus" [ISBN:0-683-40008-8] synonym: "abnormal esophageal epithelium dysplasia" EXACT [] synonym: "abnormal oesophageal epithelium dysplasia" EXACT [] synonym: "abnormal oesophageal epithelium morphology" EXACT [] synonym: "esophageal epithelium abnormalities" BROAD [] synonym: "oesophageal epithelium abnormalities" BROAD [] is_a: MP:0000467 ! abnormal esophagus morphology [Term] id: MP:0000469 name: abnormal esophageal squamous epithelium morphology def: "any structural anomaly of the scaly epithelial layer of the esophagus" [ISBN:0-683-40008-8, MGI:tc, PMID:10227294] synonym: "abnormal oesophageal squamous epithelium morphology" EXACT [] synonym: "esophageal squamous epithelium dysplasia" EXACT [] synonym: "oesophageal squamous epithelium dysplasia" EXACT [] is_a: MP:0000468 ! abnormal esophageal epithelium morphology [Term] id: MP:0000470 name: abnormal stomach morphology def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal gastric morphology" EXACT [] synonym: "gastric abnormalities" BROAD [] synonym: "gastric dysplasia" EXACT [] synonym: "stomach abnormalities" BROAD [] synonym: "stomach dysplasia" EXACT [] is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0000471 name: abnormal stomach epithelium morphology def: "any structural anomaly of the epithelial layer of the stomach" [MGI:tc] synonym: "stomach epithelium abnormalities" BROAD [] synonym: "stomach epithelium dysplasia" EXACT [] is_a: MP:0010792 ! abnormal stomach mucosa morphology [Term] id: MP:0000472 name: abnormal stomach non-glandular epithelium morphology def: "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" [ISBN:0-683-40008-8, PMID:22750256] synonym: "abnormal stomach squamous epithelium morphology" EXACT [] synonym: "stomach squamous epithelium dysplasia" EXACT [] is_a: MP:0000471 ! abnormal stomach epithelium morphology [Term] id: MP:0000473 name: abnormal stomach glandular epithelium morphology def: "any structural anomaly of the gland-containing epithelial layer of the stomach" [ISBN:0-683-40008-8, MGI:tc, PMID:10227294] synonym: "stomach glandular epithelium dysplasia" EXACT [] is_a: MP:0000471 ! abnormal stomach epithelium morphology [Term] id: MP:0000474 name: abnormal foregut morphology def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "foregut abnormalities" BROAD [] synonym: "foregut dysplasia" EXACT [] is_a: MP:0003119 ! abnormal digestive system development [Term] id: MP:0000476 name: obsolete thickening of bowel wall def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000477 name: abnormal intestine morphology alt_id: MP:0000475 def: "any structural anomaly of the digestive tube passing from the stomach to the anus, consisting of the small and large intestine divisions" [ISBN:0-683-40008-8] synonym: "abnormal bowel morphology" EXACT [] synonym: "abnormal bowel wall morphology" NARROW [] synonym: "bowel wall abnormalities" NARROW [] synonym: "intestinal abnormalities" BROAD [] synonym: "intestinal dysplasia" EXACT [] synonym: "intestine dysplasia" EXACT [] is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0000478 name: delayed intestine development def: "slowed progression to a structurally mature intestine" [MGI:cwg] synonym: "developmental retardation of the intestine" EXACT [] is_a: MP:0010158 ! abnormal intestine development [Term] id: MP:0000479 name: abnormal enterocyte morphology def: "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" [CL:0000584] synonym: "abnormal enterocytes" BROAD [] synonym: "abnormal intestinal cell morphology" BROAD [] synonym: "abnormal intestinal epithelial cell" EXACT [] synonym: "intestinal cell abnormalities" BROAD [] is_a: MP:0000488 ! abnormal intestinal epithelium morphology [Term] id: MP:0000480 name: increased rib number def: "greater than normal numbers of the pairs of bony structures that are elements of the body wall" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "increased number of ribs" EXACT [] is_a: MP:0000150 ! abnormal rib morphology [Term] id: MP:0000481 name: abnormal enterocyte cell number def: "deviation from the normal numbers of enterocytes" [CL:0000584] synonym: "abnormal enterocyte number" EXACT [] synonym: "abnormal intestinal cell number" RELATED [] is_a: MP:0000479 ! abnormal enterocyte morphology [Term] id: MP:0000482 name: long fibula def: "increased length of the lateral and smaller of bone of the lower leg" [https://orcid.org/0000-0002-0371-1954] synonym: "increased fibula length" EXACT [] is_a: MP:0002187 ! abnormal fibula morphology is_a: MP:0004695 ! increased length of long bones [Term] id: MP:0000483 name: obsolete Increased intestinal cell number def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "increased enterocyte number" EXACT [] is_obsolete: true [Term] id: MP:0000484 name: abnormal pulmonary artery morphology def: "any structural anomaly of the artery that arises from the right ventricle and conveys unaerated blood to the lungs" [MESH:A07.231.114.715, MGI:hdene] subset: CvDC_Terms synonym: "abnormal PA" BROAD [] synonym: "pulmonary arterial abnormality" BROAD [] synonym: "pulmonary artery dysplasia" EXACT [] is_a: MP:0002191 ! abnormal artery morphology [Term] id: MP:0000485 name: obsolete Decreased intestinal cell number def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "decreased enterocyte number" EXACT [] is_obsolete: true [Term] id: MP:0000486 name: abnormal pulmonary trunk morphology def: "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" [ISBN:0-683-40008-8, MGI:hdene] subset: CvDC_Terms synonym: "pulmonary trunk (MPA) abnormality" BROAD [] synonym: "pulmonary trunk dysplasia" EXACT [] is_a: MP:0002191 ! abnormal artery morphology [Term] id: MP:0000487 name: absent enterocytes alt_id: MP:0000347 def: "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" [CL:0000584] synonym: "absence of enterocytes" EXACT [] synonym: "absence of intestinal cell" BROAD [] synonym: "absent intestinal cell" BROAD [] synonym: "loss of enterocyte" EXACT [] synonym: "loss of intestinal cell" BROAD [] is_a: MP:0000339 ! decreased enterocyte cell number [Term] id: MP:0000488 name: abnormal intestinal epithelium morphology def: "any structural anomaly of the cellular avascular layer of the digestive tube passing from the stomach to the anus" [ISBN:0-683-40008-8, MGI:cwg] synonym: "intestinal epithelium abnormalities" BROAD [] synonym: "intestinal epithelium dysplasia" EXACT [] is_a: MP:0000477 ! abnormal intestine morphology [Term] id: MP:0000489 name: abnormal large intestine morphology def: "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" [ISBN:0-683-40008-8] synonym: "abnormal intestinum crassum" EXACT [] synonym: "large intestine abnormalities" BROAD [] synonym: "large intestine dysplasia" EXACT [] is_a: MP:0000477 ! abnormal intestine morphology [Term] id: MP:0000490 name: abnormal crypts of Lieberkuhn morphology def: "any structural anomaly of the tubular intestinal glands found in the mucosal membranes" [ISBN:0-683-40008-8] synonym: "abnormal intestinal gland morphology" EXACT [] synonym: "abnormal intestinal glands" BROAD [] synonym: "crypts of Lieberkuhn dysplasia" EXACT [] synonym: "intestinal gland dysplasia" EXACT [] is_a: MP:0000511 ! abnormal intestinal mucosa morphology is_a: MP:0013558 ! abnormal exocrine gland morphology [Term] id: MP:0000491 name: crypts of Lieberkuhn abscesses def: "an exudate collection associated with inflammation in the crypts of Lieberkuhn of the intestinal mucosa; often associated with ulcerative colitis" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "crypt abscesses" EXACT [] is_a: MP:0000490 ! abnormal crypts of Lieberkuhn morphology [Term] id: MP:0000492 name: abnormal rectum morphology def: "any structural anomaly of the terminal portion of the intestinal tube adjacent to the anus" [ISBN:0-683-40008-8] synonym: "rectum abnormalities" BROAD [] synonym: "rectum dysplasia" EXACT [] is_a: MP:0000489 ! abnormal large intestine morphology [Term] id: MP:0000493 name: rectal prolapse def: "downward movement and external appearance of the rectum through the anus" [ISBN:0-683-40008-8, MGI:tc] is_a: MP:0000492 ! abnormal rectum morphology [Term] id: MP:0000494 name: abnormal cecum morphology def: "any structural anomaly of the large sac at the ileum and large intestine junction" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal caecum morphology" EXACT [] synonym: "cecum abnormalities" BROAD [] synonym: "cecum dysplasia" EXACT [] is_a: MP:0000489 ! abnormal large intestine morphology [Term] id: MP:0000495 name: abnormal colon morphology def: "any structural anomaly of the portion of the large intestine between the cecum and the rectum" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "colon abnormalities" BROAD [] synonym: "colon dysplasia" EXACT [] is_a: MP:0000489 ! abnormal large intestine morphology [Term] id: MP:0000496 name: abnormal small intestine morphology def: "any structural anomaly of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum" [ISBN:0-683-40008-8] synonym: "abnormal intestinum tenue" EXACT [] synonym: "small intestine abnormalities" BROAD [] synonym: "small intestine dysplasia" EXACT [] is_a: MP:0000477 ! abnormal intestine morphology [Term] id: MP:0000497 name: abnormal small intestine placement def: "different location or arrangement of the small intestinal tract" [PMID:9144284] is_a: MP:0000496 ! abnormal small intestine morphology is_a: MP:0014023 ! abnormal intestine placement [Term] id: MP:0000498 name: absent jejunum def: "missing portion of the small intestine that extends from the duodenum to the ileum" [ISBN:0-683-40008-8] synonym: "absence of jejunum" EXACT [] is_a: MP:0004002 ! abnormal jejunum morphology [Term] id: MP:0000499 name: absent ileum def: "missing portion of the small intestine that extends from the jejunum to the colon" [ISBN:0-683-40008-8] synonym: "absence of ileum" EXACT [] is_a: MP:0002581 ! abnormal ileum morphology [Term] id: MP:0000500 name: small intestinal prolapse def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "enterocele" EXACT [] synonym: "small intestine hernia" EXACT [] is_a: MP:0000496 ! abnormal small intestine morphology [Term] id: MP:0000501 name: abnormal digestive secretion def: "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" [ISBN:0-683-40008-8, MGI:tc] synonym: "abnormal secretion" BROAD [] is_a: MP:0001664 ! abnormal digestion [Term] id: MP:0000502 name: obsolete abnormal digestive mucosecretion def: "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" [ISBN:0-683-40008-8, MGI:tc] synonym: "abnormal mucosecretion" BROAD [] is_obsolete: true [Term] id: MP:0000503 name: excessive digestive secretion def: "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" [ISBN:0-683-40008-8, MGI:tc] synonym: "excessive secretion" BROAD [] is_a: MP:0000501 ! abnormal digestive secretion [Term] id: MP:0000504 name: obsolete excessive digestive mucosecretion alt_id: MP:0000514 def: "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" [ISBN:0-683-40008-8, MGI:tc, PMID:10716451] synonym: "excessive mucosecretion" BROAD [] is_obsolete: true replaced_by: MP:0000503 [Term] id: MP:0000505 name: decreased digestive secretion def: "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" [ISBN:0-683-40008-8, MGI:tc] synonym: "reduced digestive secretion" EXACT [] synonym: "reduced secretion" BROAD [] is_a: MP:0000501 ! abnormal digestive secretion [Term] id: MP:0000506 name: obsolete decreased digestive mucosecretion alt_id: MP:0000515 def: "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" [ISBN:0-683-40008-8, MGI:tc] synonym: "reduced digestive mucosecretion" EXACT [] synonym: "reduced mucosecretion" BROAD [] is_obsolete: true replaced_by: MP:0000505 [Term] id: MP:0000507 name: absent digestive secretion def: "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" [ISBN:0-683-40008-8, MGI:tc] synonym: "absence of digestive secretion" EXACT [] synonym: "absence of secretion" BROAD [] synonym: "loss of secretion" BROAD [] is_a: MP:0000501 ! abnormal digestive secretion [Term] id: MP:0000508 name: right-sided isomerism def: "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" [https://orcid.org/0000-0003-4606-0597] is_a: MP:0004133 ! heterotaxia [Term] id: MP:0000509 name: obsolete absent digestive mucosecretion def: "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" [ISBN:0-683-40008-8, MGI:tc] synonym: "absence of digestive mucosecretion" EXACT [] synonym: "absence of mucosecretion" BROAD [] synonym: "loss of mucosecretion" BROAD [] is_obsolete: true replaced_by: MP:0000507 [Term] id: MP:0000510 name: remittent intestinal hemorrhage def: "loss of blood from the intestines that is characterized by temporary periods of abatement" [ISBN:0-683-40008-8] synonym: "remittent intestinal bleeding" EXACT [] synonym: "remittent intestinal haemorrhage" EXACT [] is_a: MP:0031154 ! intestinal hemorrhage [Term] id: MP:0000511 name: abnormal intestinal mucosa morphology def: "any structural anomaly of the mucous lining of the intestine; this consists of epithelium, lamina propria, and a layer of smooth muscle cells" [ISBN:0-683-40008-8] synonym: "abnormal mucosa of the intestine" BROAD [] synonym: "intestinal mucosa abnormalities" BROAD [] synonym: "intestinal mucosa dysplasia" EXACT [] is_a: MP:0000477 ! abnormal intestine morphology [Term] id: MP:0000512 name: intestinal ulcer def: "lesions in the mucous lining of the intestine" [MGI:cwg] synonym: "intestinal ulcers" EXACT [] synonym: "mucosal ulceration of the intestine" EXACT [] is_a: MP:0000511 ! abnormal intestinal mucosa morphology is_a: MP:0003300 ! gastrointestinal ulcer [Term] id: MP:0000513 name: obsolete infiltration of lymphocytes/plasma cells def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "lymphocyte/plasma cell infiltration" EXACT [] is_obsolete: true [Term] id: MP:0000516 name: abnormal renal/urinary system morphology alt_id: MP:0000517 def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal urinary organs" BROAD [] synonym: "excretory system defects" BROAD [] synonym: "urinary organ abnormalities" BROAD [] synonym: "urinary system dysplasia" EXACT [] is_a: MP:0005367 ! renal/urinary system phenotype [Term] id: MP:0000519 name: hydronephrosis def: "dilation of the pelvis and calices of one or both kidneys" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "hydropic kidney" EXACT [] synonym: "renal pelvic dilation" EXACT [] xref: Fyler:4502 is_a: MP:0004194 ! abnormal kidney pelvis morphology [Term] id: MP:0000520 name: absent kidney def: "absence of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "absence of kidney" EXACT [] synonym: "Agenesis of kidneys" EXACT [] synonym: "bilateral kidney agenesis" EXACT [] synonym: "bilateral renal agenesis" EXACT [] synonym: "kidney agenesis" EXACT [] synonym: "renal agenesis" EXACT [] xref: Fyler:4503 is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0000521 name: abnormal kidney cortex morphology def: "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" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "abnormal renal cortex morphology" EXACT [] synonym: "kidney cortex dysplasia" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0000522 name: kidney cortex cyst def: "presence of one or more abnormal membranous sacs in the kidney cortex" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "cystic kidney cortex" EXACT [] synonym: "cystic renal cortex" EXACT [] synonym: "cysts in kidney cortex" EXACT [] synonym: "kidney cortex cysts" EXACT [] synonym: "renal cortex cyst" EXACT [] synonym: "renal cortex cysts" EXACT [] synonym: "renal cortical cyst" EXACT [] synonym: "renal cortical cysts" EXACT [] is_a: MP:0000521 ! abnormal kidney cortex morphology is_a: MP:0003675 ! kidney cyst [Term] id: MP:0000523 name: cortical renal glomerulopathies def: "any disease of the capillary plexus in the kidney cortex" [ISBN:0-683-40008-8] is_a: MP:0005325 ! abnormal renal glomerulus morphology [Term] id: MP:0000524 name: decreased renal tubule number def: "fewer of the loops of Henle, the proximal convoluted tubules or the distal convoluted tubules" [PMID:9144284] synonym: "reduced number of renal tubules" EXACT [] synonym: "reduced renal tubule number" EXACT [] is_a: MP:0002703 ! abnormal renal tubule morphology [Term] id: MP:0000525 name: renal tubular acidosis def: "a clinical syndrome characterized by the inability to acidify urine" [ISBN:0-683-40008-8] is_a: MP:0002136 ! abnormal kidney physiology is_a: MP:0003031 ! acidosis [Term] id: MP:0000526 name: small inner medullary pyramid def: "reduced size of pyramidal masses; contain part of the secreting tubules and collecting tubules" [ISBN:0-683-40008-8, PMID:9144284] is_a: MP:0004192 ! abnormal kidney pyramid morphology is_a: MP:0011333 ! abnormal kidney inner medulla morphology [Term] id: MP:0000527 name: abnormal kidney development def: "any anomaly in the differentiation of the paired organs responsible for urine secretion" [MGI:cwg] subset: IMPC_Prenatal synonym: "abnormal nephrogenesis" EXACT [] synonym: "abnormal renal development" EXACT [] synonym: "kidney development abnormalities" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology is_a: MP:0003942 ! abnormal urinary system development [Term] id: MP:0000528 name: delayed kidney development alt_id: MP:0000529 def: "late onset of the induction and/or differentiation of the kidney" [PMID:7926784] synonym: "delayed renal development" EXACT [] synonym: "developmental retardation of kidney" EXACT [] is_a: MP:0000527 ! abnormal kidney development [Term] id: MP:0000530 name: abnormal kidney vasculature morphology def: "any structural anomaly of the network of tubes that carries blood through the organ of excretion" [ISBN:0-683-40008-8] synonym: "abnormal kidney blood vessel morphology" EXACT [] synonym: "abnormal renal vasculature morphology" EXACT [] synonym: "kidney vasculature abnormalities" BROAD [] is_a: MP:0001614 ! abnormal blood vessel morphology is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0000531 name: right pulmonary isomerism def: "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" [https://orcid.org/0000-0002-6490-7723] is_a: MP:0000508 ! right-sided isomerism is_a: MP:0009569 ! abnormal left lung morphology is_a: MP:0010853 ! abnormal lung position or orientation [Term] id: MP:0000532 name: kidney vascular congestion alt_id: MP:0000257 def: "obstruction of the normal flux of blood within the blood vessel network of the organ of secretion" [ISBN:0-683-40008-8, MGI:tc] synonym: "congested kidney vasculature" EXACT [] is_a: MP:0000530 ! abnormal kidney vasculature morphology is_a: MP:0010017 ! visceral vascular congestion [Term] id: MP:0000533 name: kidney hemorrhage def: "bleeding in the organ of excretion" [ISBN:0-683-40008-8, MGI:tc] synonym: "kidney bleeding" EXACT [] synonym: "kidney haemorrhage" EXACT [] synonym: "renal haemorrhage" EXACT [] synonym: "renal hemorrhage" EXACT [] is_a: MP:0001634 ! internal hemorrhage is_a: MP:0002136 ! abnormal kidney physiology [Term] id: MP:0000534 name: abnormal ureter morphology def: "any structural anomaly of the tube that conducts the urine from the renal pelvis to the bladder" [ISBN:0-683-40008-8] synonym: "ureter abnormalities" BROAD [] synonym: "ureter dysplasia" EXACT [] is_a: MP:0000516 ! abnormal renal/urinary system morphology [Term] id: MP:0000535 name: ureter urothelium hyperplasia def: "increase in the number of normal cells in normal arrangement in the ureter urothelium, typically resulting in increased size" [https://orcid.org/0000-0003-3691-0324] synonym: "hyperplasia of the luminal epithelium of ureter" EXACT [] synonym: "hyperplastic ureter urothelium" EXACT [] synonym: "luminal epithelium of ureter hyperplasia" EXACT [] is_a: MP:0011484 ! abnormal ureter urothelium morphology [Term] id: MP:0000536 name: hydroureter def: "distention of the ureter with urine, due to blockage from any cause" [ISBN:0-683-40008-8, MGI:cml] is_a: MP:0000534 ! abnormal ureter morphology [Term] id: MP:0000537 name: abnormal urethra morphology def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "abnormal urogenital canal morphology" EXACT [] synonym: "urethra abnormalities" BROAD [] synonym: "urethra dysplasia" EXACT [] is_a: MP:0000516 ! abnormal renal/urinary system morphology [Term] id: MP:0000538 name: abnormal urinary bladder morphology def: "any structural anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys" [ISBN:0-683-40008-8] synonym: "abnormal cystis urinaria morphology" EXACT [] synonym: "abnormal urocyst morphology" EXACT [] synonym: "abnormal urocystis morphology" EXACT [] synonym: "abnormal vesica morphology" EXACT [] synonym: "abnormal vesica urinaria morphology" EXACT [] synonym: "urinary bladder dysplasia" EXACT [] is_a: MP:0000516 ! abnormal renal/urinary system morphology [Term] id: MP:0000539 name: distended urinary bladder def: "stretched musculomembranous organ that serves to collect and store urine excreted by the kidneys" [ISBN:0-683-40008-8] synonym: "dilated urinary bladder" EXACT [] synonym: "megabladder" EXACT [] synonym: "megacystis" EXACT [] synonym: "megalocystis" EXACT [] synonym: "urinary bladder dilation" EXACT [] synonym: "urinary bladder distension" EXACT [] is_a: MP:0000538 ! abnormal urinary bladder morphology [Term] id: MP:0000540 name: abnormal urinary bladder urothelium morphology def: "any structural anomaly of the epithelial lining of the luminal space of the urinary bladder" [MGI:tc] synonym: "abnormal urinary bladder epithelium morphology" EXACT [] synonym: "abnormal urinary bladder transitional epithelium morphology" EXACT [] synonym: "urinary bladder epithelium dysplasia" EXACT [] synonym: "urinary bladder transitional epithelium dysplasia" EXACT [] is_a: MP:0000538 ! abnormal urinary bladder morphology is_a: MP:0003630 ! abnormal urothelium morphology [Term] id: MP:0000541 name: obsolete abnormal urinary bladder transitional epithelium morphology def: "any structural anomaly of the transitional epithelial layer of the urinary bladder" [MGI:tc] comment: This term is identical to MP:0000540. synonym: "urinary bladder transitional epithelium dysplasia" EXACT [] is_obsolete: true replaced_by: MP:0000540 [Term] id: MP:0000542 name: left-sided isomerism def: "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" [https://orcid.org/0000-0003-4606-0597] synonym: "polysplenia syndrome (left isomerism)" RELATED [] xref: Fyler:0192 xref: Fyler:192 is_a: MP:0004133 ! heterotaxia [Term] id: MP:0000543 name: absent urinary bladder urothelium def: "missing the transitional epithelial layer of the urinary bladder" [MGI:tc, PMID:10227294] synonym: "absence of urinary bladder transitional epithelium" EXACT [] synonym: "absent urinary bladder transitional epithelium" EXACT [] synonym: "loss of urinary bladder transitional epithelium" BROAD [] is_a: MP:0000540 ! abnormal urinary bladder urothelium morphology [Term] id: MP:0000544 name: thin urinary bladder urothelium def: "decrease in the thickness of the transitional epithelial layer of the urinary bladder" [MGI:tc, PMID:10227294] synonym: "thin urinary bladder transitional epithelium" EXACT [] is_a: MP:0000540 ! abnormal urinary bladder urothelium morphology [Term] id: MP:0000545 name: obsolete abnormal limbs/digits/tail morphology def: "OBSOLETE. morphological or developmental anomaly of the digits, autopod, limbs, or tail" [MGI:cwg] synonym: "abnormal extremities" BROAD [] synonym: "abnormal extremity morphology" EXACT [] synonym: "extremities abnormalities" BROAD [] synonym: "extremities defects" BROAD [] synonym: "extremities dysplasia" EXACT [] synonym: "extremity dysplasia" EXACT [] synonym: "limbs/digits/tail dysplasia" EXACT [] is_obsolete: true [Term] id: MP:0000547 name: short limbs alt_id: MP:0002542 def: "reduced average length of the extremities" [https://orcid.org/0000-0003-3691-0324, PMID:10742104] subset: IMPC subset: Sanger_Terms synonym: "brachymelia" EXACT [] synonym: "decreased limb length" EXACT [] synonym: "reduced limb length" EXACT [] is_a: MP:0002109 ! abnormal limb morphology [Term] id: MP:0000548 name: long limbs def: "increased average length of the extremities" [MGI:tc] subset: IMPC subset: Sanger_Terms synonym: "increased limb length" EXACT [] is_a: MP:0002109 ! abnormal limb morphology [Term] id: MP:0000549 name: absent limbs def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "absence of limbs" EXACT [] synonym: "ectromelic limbs" BROAD [] is_a: MP:0002109 ! abnormal limb morphology [Term] id: MP:0000550 name: abnormal forelimb morphology def: "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" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal arm morphology" NARROW [] synonym: "forelimb abnormalities" BROAD [] synonym: "forelimb dysplasia" EXACT [] is_a: MP:0002109 ! abnormal limb morphology [Term] id: MP:0000551 name: absent forelimb def: "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" [https://orcid.org/0000-0003-3691-0324] subset: IMPC subset: Sanger_Terms synonym: "absence of forelimb" EXACT [] is_a: MP:0000549 ! absent limbs is_a: MP:0000550 ! abnormal forelimb morphology [Term] id: MP:0000552 name: abnormal radius morphology def: "any structural anomaly of the short bone of the lateral forearm" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "radius dysplasia" EXACT [] is_a: MP:0003855 ! abnormal forelimb zeugopod morphology is_a: MP:0011504 ! abnormal limb long bone morphology [Term] id: MP:0000553 name: absent radius def: "missing the short bone of the lateral forearm" [ISBN:0-683-40008-8, PMID:10227294] synonym: "absence of radius" EXACT [] is_a: MP:0000552 ! abnormal radius morphology [Term] id: MP:0000554 name: abnormal carpal bone morphology def: "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" [ISBN:0-683-40008-8, ISBN:978-0028454405] comment: Note that the bony structure of the human and rodent carpals are different. synonym: "abnormal carpal bone" BROAD [] synonym: "abnormal carpus" BROAD [] synonym: "carpal bone dysplasia" EXACT [] synonym: "carpus dysplasia" EXACT [] is_a: MP:0000572 ! abnormal autopod morphology is_a: MP:0002115 ! abnormal limb bone morphology [Term] id: MP:0000555 name: absent carpal bone def: "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" [ISBN:0-683-40008-8, ISBN:978-0028454405] comment: Note that the bony structure of the human and rodent carpals are different. synonym: "absence of carpal bone" EXACT [] synonym: "absent carpus" EXACT [] is_a: MP:0000554 ! abnormal carpal bone morphology [Term] id: MP:0000556 name: abnormal hindlimb morphology def: "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" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal hind limb morphology" EXACT [] synonym: "abnormal leg morphology" NARROW [] synonym: "hind limb abnormalities" BROAD [] synonym: "hind limb dysplasia" EXACT [] synonym: "hindlimb abnormalities" BROAD [] synonym: "hindlimb dysplasia" EXACT [] is_a: MP:0002109 ! abnormal limb morphology [Term] id: MP:0000557 name: absent hindlimb def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "absence of hind limb" EXACT [] synonym: "absence of hind limbs" EXACT [] synonym: "absence of hindlimb" EXACT [] synonym: "absent hind limb" EXACT [] synonym: "absent hind limbs" EXACT [] is_a: MP:0000549 ! absent limbs is_a: MP:0000556 ! abnormal hindlimb morphology [Term] id: MP:0000558 name: abnormal tibia morphology def: "any structural anomaly of the medial and larger of the two bones of the lower leg" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "tibia dysplasia" EXACT [] is_a: MP:0003857 ! abnormal hindlimb zeugopod morphology is_a: MP:0011504 ! abnormal limb long bone morphology [Term] id: MP:0000559 name: abnormal femur morphology def: "any structural anomaly of the long bone of the thigh" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "femur dysplasia" EXACT [] is_a: MP:0003856 ! abnormal hindlimb stylopod morphology is_a: MP:0011504 ! abnormal limb long bone morphology [Term] id: MP:0000561 name: adactyly def: "missing one or more digits, or all digits" [MGI:tc, PMID:10227294] comment: There is ambiguity in the literature regarding the meaning of the term adactyly. Some sources define this as missing all digits and other sources list the definition as missing all or one or more digits. In this ontology, we are using the latter, more inclusive definition, even though this may confound the usage of the term oligodactyly MP:0000565. subset: CvDC_Terms subset: Europhenome_Terms subset: IMPC synonym: "absence of digits" EXACT [] synonym: "absent fingers" NARROW [] synonym: "absent toes" NARROW [] xref: Fyler:4173 is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0000562 name: polydactyly def: "greater than the normal complement of digits on one or more autopods" [ISBN:0-683-40008-8] subset: CvDC_Terms subset: Europhenome_Terms subset: IMPC_Prenatal subset: Sanger_Terms synonym: "extra fingers" NARROW [] synonym: "extra toes" NARROW [] synonym: "hyperdactyly" EXACT [] synonym: "polydactylia" EXACT [] synonym: "polydactylism" EXACT [] xref: Fyler:4103 is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0000564 name: syndactyly def: "any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone" [ISBN:0-683-40008-8] subset: CvDC_Terms subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "fused fingers" NARROW [] synonym: "fused toes" NARROW [] xref: Fyler:4174 is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0000565 name: oligodactyly alt_id: MP:0000563 def: "congenital condition in which some digits or parts of digits are missing" [ISBN:0-683-40008-8, PMID:9949198] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "hypodactyly" EXACT [] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0000566 name: synostosis def: "osseous union of two bones that are not normally connected" [J:13049] is_a: MP:0005508 ! abnormal skeleton morphology [Term] id: MP:0000567 name: truncated digits def: "absence of the most distal region of the digits" [PMID:7925010] synonym: "truncation of digits" EXACT [] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0000568 name: ectopic digits def: "positional abnormality of a digit" [PMID:9778510] synonym: "heterotopic digits" EXACT [] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0000569 name: abnormal digit pigmentation alt_id: MP:0000570 def: "anomaly in the coloration of the fingers or toes due to changes in the amount, shape, or distribution of cells producing pigment" [MGI:cwg, MGI:llw2] synonym: "altered digit pigmentation" EXACT [] is_a: MP:0002095 ! abnormal skin pigmentation is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0000571 name: interdigital webbing def: "fold of skin, or web, between the toes that is not normally present" [ISBN:0-683-40008-8, PMID:9753320] is_a: MP:0000564 ! syndactyly [Term] id: MP:0000572 name: abnormal autopod morphology alt_id: MP:0004271 def: "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)" [https://orcid.org/0000-0003-3691-0324, PMID:12560810] subset: CvDC_Terms subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal foot morphology" NARROW [] synonym: "abnormal hand morphology" NARROW [] synonym: "abnormal paw morphology" NARROW [] synonym: "abnormal paw/hand/foot morphology" EXACT [] synonym: "abnormal paws" NARROW [] synonym: "hand and/or foot anomaly" BROAD [] synonym: "paw abnormalities" NARROW [] synonym: "paw/hand/foot dysplasia" EXACT [] xref: Fyler:4170 is_a: MP:0002109 ! abnormal limb morphology [Term] id: MP:0000573 name: increased hindlimb autopod size def: "larger than average size of the rear feet" [J:51296] synonym: "enlarged hind paws" EXACT [] synonym: "increased hind paw size" EXACT [] is_a: MP:0000556 ! abnormal hindlimb morphology is_a: MP:0020242 ! increased autopod size [Term] id: MP:0000574 name: abnormal foot pad morphology def: "any structural anomaly of the body of fat on the foot" [MGI:cwg] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal foot pads" BROAD [] synonym: "foot pad dysplasia" EXACT [] is_a: MP:0000572 ! abnormal autopod morphology [Term] id: MP:0000575 name: increased foot pad pigmentation def: "darker color of the foot pads due to excess pigment" [MGI:cml] subset: IMPC subset: Sanger_Terms synonym: "dark foot pads" EXACT [] synonym: "foot pad hyperpigmentation" EXACT [] is_a: MP:0000574 ! abnormal foot pad morphology is_a: MP:0030051 ! increased foot pigmentation [Term] id: MP:0000576 name: clubfoot def: "congenital deformation of the autopods; hind or forelimb foot is plantarflexed, inverted and adducted" [ISBN:0-683-40008-8, PMID:10709991] subset: CvDC_Terms synonym: "club foot" EXACT [] synonym: "clubbed feet" EXACT [] synonym: "talipes equino varus" EXACT [] synonym: "talipes equinovarus" EXACT [] xref: Fyler:4171 is_a: MP:0000572 ! abnormal autopod morphology [Term] id: MP:0000577 name: absent eccrine glands alt_id: MP:0000677 def: "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" [PMID:15843440] synonym: "absence of palmar eccrine glands" NARROW [] synonym: "absent palmar eccrine glands" NARROW [] synonym: "absent palmar sweat glands" NARROW [] synonym: "loss of palmar eccrine glands" NARROW [] is_a: MP:0013458 ! decreased eccrine gland number [Term] id: MP:0000578 name: ulcerated autopod def: "inflammatory, often suppurating lesions on the paws; often become necrotic" [J:17194] synonym: "ulcerated paws" EXACT [] is_a: MP:0000572 ! abnormal autopod morphology [Term] id: MP:0000579 name: abnormal nail morphology def: "any structural anomaly of any of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits" [ISBN:0-683-40008-8] subset: IMPC subset: Sanger_Terms synonym: "abnormal claw morphology" RELATED [] synonym: "abnormal nails" BROAD [] synonym: "nail abnormalities" BROAD [] synonym: "nail dysplasia" EXACT [] synonym: "onychodystrophy" EXACT [] is_a: MP:0010678 ! abnormal skin adnexa morphology [Term] id: MP:0000580 name: deformed nails def: "atypical shape or size of the nails" [PMID:9420327] subset: Europhenome_Terms subset: IMPC synonym: "deformed claw" RELATED [] is_a: MP:0000579 ! abnormal nail morphology [Term] id: MP:0000581 name: obsolete ventral nails/ hair def: "OBSOLETE. appearance of nails and hair on the ventral side of the paw" [PMID:9778510] is_obsolete: true [Term] id: MP:0000582 name: toenail hyperkeratosis def: "keratin extensions from the toenails" [J:62478] is_a: MP:0000579 ! abnormal nail morphology [Term] id: MP:0000583 name: long toenails def: "increased length of the toenails" [PMID:1709129] subset: Europhenome_Terms subset: IMPC synonym: "increased toenail length" EXACT [] is_a: MP:0000556 ! abnormal hindlimb morphology is_a: MP:0012401 ! long nails [Term] id: MP:0000585 name: kinked tail alt_id: MP:0000586 alt_id: MP:0000591 def: "a sharp bend or zigzag in the tail" [PMID:10709991] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "crooked tail" EXACT [] synonym: "kinky tail" EXACT [] synonym: "tail kinks" EXACT [] is_a: MP:0002111 ! abnormal tail morphology [Term] id: MP:0000588 name: thick tail def: "a tail with a greater diameter than normal" [MGI:cwg] subset: Europhenome_Terms subset: IMPC is_a: MP:0002111 ! abnormal tail morphology [Term] id: MP:0000589 name: thin tail def: "a tail with a smaller diameter than normal" [MGI:cwg] subset: Europhenome_Terms subset: IMPC is_a: MP:0002111 ! abnormal tail morphology [Term] id: MP:0000592 name: short tail alt_id: MP:0000587 def: "reduced length of tail compared to control" [PMID:10572046] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased tail length" EXACT [] synonym: "reduced tail length" EXACT [] synonym: "stubbed tail" EXACT [] is_a: MP:0011999 ! abnormal tail length [Term] id: MP:0000593 name: obsolete tail band def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000596 name: abnormal liver development def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: IMPC_Prenatal synonym: "abnormal hepatic development" EXACT [] is_a: MP:0000598 ! abnormal liver morphology is_a: MP:0003943 ! abnormal hepatobiliary system development [Term] id: MP:0000597 name: delayed hepatic development def: "late onset of the induction and/or differentiation of the liver" [PMID:7926784] is_a: MP:0000596 ! abnormal liver development [Term] id: MP:0000598 name: abnormal liver morphology alt_id: MP:0000595 def: "any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: CvDC_Terms subset: IMPC_Prenatal synonym: "abnormal hepatic morphology" EXACT [] synonym: "abnormal liver" BROAD [] synonym: "liver dysplasia" EXACT [] xref: Fyler:4447 is_a: MP:0002138 ! abnormal hepatobiliary system morphology [Term] id: MP:0000599 name: enlarged liver def: "larger than average size of the liver" [PMID:8941642] synonym: "hepatomegaly" EXACT [] synonym: "increased liver size" EXACT [] is_a: MP:0004848 ! abnormal liver size is_a: MP:0013328 ! visceromegaly [Term] id: MP:0000600 name: liver hypoplasia def: "decrease in the number of normal cells in normal arrangement in the liver, typically resulting in decreased size" [https://orcid.org/0000-0003-3691-0324] synonym: "hepatic hypoplasia" RELATED [] synonym: "hypoplastic liver" EXACT [] is_a: MP:0000601 ! small liver [Term] id: MP:0000601 name: small liver def: "reduced size of the liver" [PMID:7854452] synonym: "decreased liver size" EXACT [] synonym: "reduced liver size" EXACT [] is_a: MP:0004848 ! abnormal liver size [Term] id: MP:0000602 name: dilated liver sinusoidal space def: "the luminal space of one or more liver sinusoids is increased in volume or area" [PMID:15361506, PMID:29844855, PMID:7854452] comment: Hepatic sinusoidal dilatation can be caused by hepatic venous outflow obstruction or extrahepatic inflammatory conditions; the dilated lumens can appear congested and packed with erythrocytes. Per PMID:15361506 and PMID:29844855, hepatic sinusoidal dilatation is defined as sinusoidal space (lumen) more than one hepatocyte plate in width {xref="https://radiopaedia.org/articles/hepatic-sinusoidal-dilatation", xref="https://tpis.upmc.com/tpislibrary/dlp/Chap11frame.html"} synonym: "dilated liver sinusoidal spaces" EXACT [] synonym: "enlarged hepatic sinusoidal space" EXACT [] synonym: "enlarged hepatic sinusoidal spaces" EXACT [] synonym: "hepatic sinusoidal dilation" EXACT [] synonym: "increased liver sinusoidal space size" EXACT [] synonym: "liver sinusoidal space dilation" EXACT [] is_a: MP:0008989 ! abnormal liver sinusoid morphology [Term] id: MP:0000603 name: pale liver def: "liver lacking normal coloration, often refers to bloodless condition" [PMID:7926784] subset: IMPC_Prenatal is_a: MP:0000598 ! abnormal liver morphology [Term] id: MP:0000604 name: amyloidosis alt_id: MP:0000695 def: "an accumulation of extracellular amyloid deposits in tissues of the body" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "increased amyloid deposition" EXACT [] is_a: MP:0021152 ! abnormal amyloid deposition [Term] id: MP:0000606 name: decreased hepatocyte number def: "fewer than normal number of parenchymal liver cells" [PMID:7854452] synonym: "reduced hepatocyte cell number" EXACT [] is_a: MP:0000607 ! abnormal hepatocyte morphology [Term] id: MP:0000607 name: abnormal hepatocyte morphology alt_id: MP:0000605 alt_id: MP:0002821 def: "any structural anomaly of the main structural specialized epithelial cells which normally organize into interconnected plates called lobules" [MESH:A11.436.348, PMID:7854452] synonym: "abnormal hepatocytes" BROAD [] synonym: "abnormal liver cells" BROAD [] is_a: MP:0008987 ! abnormal liver lobule morphology [Term] id: MP:0000608 name: dissociated hepatocytes def: "disorganization of cohesive hepatocyte structure" [PMID:7854452] synonym: "dissociation of liver parenchymal cells" EXACT [] is_a: MP:0000607 ! abnormal hepatocyte morphology [Term] id: MP:0000609 name: abnormal liver physiology def: "any functional anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage" [ISBN:0-683-40008-8] synonym: "abnormal hepatic function" EXACT [] synonym: "abnormal hepatic physiology" EXACT [] synonym: "abnormal liver function" EXACT [] is_a: MP:0002139 ! abnormal hepatobiliary system physiology [Term] id: MP:0000610 name: cholestasis def: "impairment of bile flow due to obstruction in small bile ducts (intrahepatic cholestasis) or obstruction in large bile ducts (extrahepatic cholestasis)" [MESH:C06.130.120.135] synonym: "bile duct obstruction" EXACT [] synonym: "bile stasis" EXACT [] synonym: "biliary stasis" EXACT [] is_a: MP:0003252 ! abnormal bile duct physiology [Term] id: MP:0000611 name: jaundice def: "clinical manifestation of hyperbilirubinemia, with deposition of bile pigments in the skin, resulting in yellowish staining of the skin and mucous membranes" [MESH:C23.550.429.500] synonym: "icterus" EXACT [] is_a: MP:0000609 ! abnormal liver physiology [Term] id: MP:0000612 name: obsolete sclerosis def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000613 name: abnormal salivary gland morphology def: "any structural anomaly of the saliva-secreting glands of the oral cavity" [ISBN:0-683-40008-8, PMID:10906459] synonym: "abnormal salivary glands" BROAD [] synonym: "salivary gland dysplasia" EXACT [] is_a: MP:0000462 ! abnormal digestive system morphology is_a: MP:0013544 ! abnormal merocrine gland morphology [Term] id: MP:0000614 name: absent salivary gland def: "missing any of the saliva-secreting glands of the oral cavity" [ISBN:0-683-40008-8, MGI:tc, PMID:10227294] synonym: "absence of salivary glands" EXACT [] is_a: MP:0000613 ! abnormal salivary gland morphology [Term] id: MP:0000615 name: abnormal palatine gland morphology def: "any structural anomaly of the salivary gland of the hard palate" [ISBN:0-683-40008-8, PMID:11002344] synonym: "abnormal glandulae palatinae morphology" EXACT [] synonym: "palatine gland dysplasia" EXACT [] is_a: MP:0003791 ! abnormal minor salivary gland morphology is_a: MP:0014032 ! abnormal mucous gland morphology [Term] id: MP:0000616 name: decreased ductal branching in the palatine gland def: "fewer branches and distal tips of the vesicles of the palatine gland" [PMID:11002344] synonym: "reduced ductal branching in the palatine gland" EXACT [] is_a: MP:0000615 ! abnormal palatine gland morphology is_a: MP:0009517 ! abnormal salivary gland duct morphology [Term] id: MP:0000617 name: increased salivary gland mucosal cell number def: "greater than normal number of cells that form mucus in the salivary glands" [PMID:11002344] synonym: "increased number of salivary gland mucosal cells" EXACT [] is_a: MP:0000613 ! abnormal salivary gland morphology [Term] id: MP:0000618 name: small salivary gland def: "reduced size of the saliva-secreting glands of the oral cavity" [ISBN:0-683-40008-8, PMID:10906459] synonym: "decreased salivary gland size" EXACT [] is_a: MP:0000613 ! abnormal salivary gland morphology [Term] id: MP:0000619 name: salivary gland epithelial hyperplasia def: "increase in the number of normal cells in normal arrangement in the salivary gland epithelium, typically resulting in increased size" [ISBN:0-683-40008-8, PMID:10906459] synonym: "hyperplastic salivary gland epithelium" EXACT [] is_a: MP:0000613 ! abnormal salivary gland morphology [Term] id: MP:0000620 name: narrow salivary ducts def: "reduced diameter of the tubular canals that carry saliva" [ISBN:0-683-40008-8, PMID:10906459] is_a: MP:0009517 ! abnormal salivary gland duct morphology [Term] id: MP:0000621 name: increased salivary adenocarcinoma incidence alt_id: MP:0002040 def: "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" [ISBN:0-683-40008-8] synonym: "acinar carcinoma" RELATED [] synonym: "acinic cell adenocarcinoma" RELATED [] synonym: "acinic cell carcinoma" RELATED [] synonym: "salivary adenocarcinoma" RELATED [] synonym: "Salivary Adenocarcinomas" RELATED [] is_a: MP:0009308 ! increased adenocarcinoma incidence is_a: MP:0010318 ! increased salivary gland tumor incidence [Term] id: MP:0000622 name: increased salivation def: "greater than normal amounts of flowing saliva" [ISBN:0-683-40008-8] synonym: "excess salivation" EXACT [] synonym: "hygrostomia" EXACT [] synonym: "hypersalivation" EXACT [] synonym: "ptyalism" EXACT [] synonym: "sialism" EXACT [] synonym: "sialismus" EXACT [] synonym: "sialorrhea" EXACT [] synonym: "sialosis" EXACT [] is_a: MP:0001784 ! abnormal fluid regulation is_a: MP:0005310 ! abnormal salivary gland physiology [Term] id: MP:0000623 name: decreased salivation def: "reduction in the flow, secretion, or amount of saliva" [MGI:cwg] synonym: "hyposalivation" EXACT [] synonym: "reduced salivation" EXACT [] synonym: "sialoschesis" EXACT [] is_a: MP:0001784 ! abnormal fluid regulation is_a: MP:0005310 ! abnormal salivary gland physiology [Term] id: MP:0000624 name: xerostomia def: "dryness of the mouth resulting from reduced salivary secretion" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "dry mouth" EXACT [] is_a: MP:0000623 ! decreased salivation is_a: MP:0003745 ! abnormal oral mucosa morphology [Term] id: MP:0000627 name: abnormal mammary gland morphology def: "any structural anomaly of the compound, alveolar and apocrine accessory gland of the skin of mammals that secretes milk" [ISBN:0-683-40008-8] comment: The neonatal male and female rat and mouse have 6 and 5 pairs of glands, respectively, with a single, central lactiferous duct, several branching secondary ducts, and numerous tertiary ducts (Ceriani 1970; Cardiff and Wellings 1999). In the rat, the glands are distributed in pairs along the milk line, with 1 pair cervical, 2 thoracic, 1 abdominal, and 2 inguinal (Astwood, Geschickter, and Rausch 1937). Distribution in the mouse is in the neck, chest wall (2 pairs), abdominal wall, and inguinal region (Cardiff and Wellings 1999). synonym: "abnormal Brustdruese morphology" RELATED [] synonym: "abnormal dug morphology" RELATED [] synonym: "abnormal glandula mammaria morphology" EXACT [] synonym: "abnormal lactiferous gland morphology" EXACT [] synonym: "abnormal lobe of mammary gland morphology" RELATED [] synonym: "abnormal mamma morphology" RELATED [] synonym: "abnormal mammae morphology" RELATED [] synonym: "abnormal mammary glands" EXACT [] synonym: "mammary gland dysplasia" EXACT [] is_a: MP:0010678 ! abnormal skin adnexa morphology is_a: MP:0013554 ! abnormal apocrine gland morphology [Term] id: MP:0000628 name: abnormal mammary gland development alt_id: MP:0003428 def: "aberration in the differentiation of the mammary gland during early embryogenesis or during sexual maturity" [ISBN:0-683-40008-8] synonym: "abnormal breast development" EXACT [] synonym: "abnormal Brustdruese development" EXACT [] synonym: "abnormal glandula mammaria development" EXACT [] synonym: "abnormal Lactiferous gland development" EXACT [] synonym: "abnormal lactiferous gland development" EXACT [] synonym: "abnormal Lobe of breast development" EXACT [] synonym: "abnormal lobe of breast development" EXACT [] synonym: "abnormal Lobe of mammary gland development" EXACT [] synonym: "abnormal lobe of mammary gland development" EXACT [] synonym: "abnormal mamma development" EXACT [] synonym: "abnormal mammae development" EXACT [] synonym: "abnormal mammary development" EXACT [] synonym: "abnormal mammogenesis" EXACT [] is_a: MP:0000627 ! abnormal mammary gland morphology is_a: MP:0020973 ! abnormal gland development is_a: MP:0020982 ! abnormal skin adnexa development [Term] id: MP:0000629 name: absent mammary gland def: "absence of the specialized accessory gland of the skin of mammals that secretes milk" [PMID:7958926] synonym: "absence of mammary glands" EXACT [] synonym: "absent breast" EXACT [] synonym: "absent Brustdruese" EXACT [] synonym: "absent glandula mammaria" EXACT [] synonym: "absent Lactiferous gland" EXACT [] synonym: "absent lactiferous gland" EXACT [] synonym: "absent Lobe of breast" EXACT [] synonym: "absent lobe of breast" EXACT [] synonym: "absent Lobe of mammary gland" EXACT [] synonym: "absent lobe of mammary gland" EXACT [] synonym: "absent mamma" EXACT [] synonym: "absent mammae" EXACT [] synonym: "amastia" EXACT [] is_a: MP:0013715 ! decreased mammary gland number [Term] id: MP:0000630 name: mammary gland hyperplasia def: "increase in the number of normal cells in normal arrangement in the mammary gland, typically resulting in increased size" [https://orcid.org/0000-0003-4606-0597] synonym: "breast hyperplasia" EXACT [] synonym: "Brustdruese hyperplasia" EXACT [] synonym: "glandula mammaria hyperplasia" EXACT [] synonym: "Lactiferous gland hyperplasia" EXACT [] synonym: "lactiferous gland hyperplasia" EXACT [] synonym: "Lobe of breast hyperplasia" EXACT [] synonym: "lobe of breast hyperplasia" EXACT [] synonym: "Lobe of mammary gland hyperplasia" EXACT [] synonym: "lobe of mammary gland hyperplasia" EXACT [] synonym: "mamma hyperplasia" EXACT [] synonym: "mammae hyperplasia" EXACT [] is_a: MP:0000627 ! abnormal mammary gland morphology [Term] id: MP:0000631 name: abnormal neuroendocrine gland morphology def: "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" [ISBN:0-683-40008-8] synonym: "abnormal neuroendocrine glands" BROAD [] synonym: "neuroendocrine gland dysplasia" EXACT [] is_a: MP:0013560 ! abnormal endocrine gland morphology [Term] id: MP:0000632 name: abnormal pineal gland morphology def: "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" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "abnormal conarium morphology" EXACT [] synonym: "abnormal corpus pineale morphology" EXACT [] synonym: "abnormal epiphysis cerebri morphology" EXACT [] synonym: "abnormal glandula pinealis morphology" EXACT [] synonym: "abnormal pineal body morphology" EXACT [] synonym: "abnormal pineal glands" BROAD [] synonym: "pineal gland dysplasia" EXACT [] is_a: MP:0000840 ! abnormal epithalamus morphology is_a: MP:0013563 ! abnormal secretory circumventricular organ morphology [Term] id: MP:0000633 name: abnormal pituitary gland morphology def: "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" [ISBN:0-683-40008-8] synonym: "abnormal hypophysis morphology" EXACT [] synonym: "abnormal pituitary glands" BROAD [] synonym: "abnormal pituitary morphology" EXACT [] synonym: "pituitary gland dysplasia" EXACT [] is_a: MP:0000631 ! abnormal neuroendocrine gland morphology is_a: MP:0000830 ! abnormal diencephalon morphology [Term] id: MP:0000635 name: pituitary gland hyperplasia alt_id: MP:0000634 def: "increase in the number of normal cells in normal arrangement in the pituitary gland, typically resulting in increased size" [ISBN:0-683-40008-8] synonym: "hyperplastic pituitary gland" EXACT [] synonym: "pituitary hyperplasia" EXACT [] is_a: MP:0000636 ! enlarged pituitary gland [Term] id: MP:0000636 name: enlarged pituitary gland def: "increased size of pituitary gland" [PMID:9744866] synonym: "increased pituitary gland size" EXACT [] is_a: MP:0008936 ! abnormal pituitary gland size [Term] id: MP:0000637 name: obsolete abnormal merkel cells def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true replaced_by: MP:0000985 [Term] id: MP:0000638 name: obsolete hyperproliferation of merkel cells def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0000986 [Term] id: MP:0000639 name: abnormal adrenal gland morphology def: "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" [ISBN:0-683-40008-8] synonym: "abnormal adrenal body morphology" EXACT [] synonym: "abnormal adrenal glands" BROAD [] synonym: "abnormal adrenal morphology" EXACT [] synonym: "abnormal suprarenal body morphology" EXACT [] synonym: "abnormal suprarenal gland morphology" EXACT [] synonym: "adrenal gland dysplasia" EXACT [] is_a: MP:0013560 ! abnormal endocrine gland morphology [Term] id: MP:0000640 name: adrenal gland hypoplasia def: "decrease in the number of normal cells in normal arrangement in the adrenal gland, typically resulting in decreased size" [ISBN:0-683-40008-8] synonym: "adrenal hypoplasia" EXACT [] synonym: "hypoplastic adrenal gland" EXACT [] is_a: MP:0002768 ! small adrenal glands [Term] id: MP:0000642 name: enlarged adrenal glands alt_id: MP:0000641 def: "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" [ISBN:0-683-40008-8] synonym: "increased adrenal gland size" EXACT [] is_a: MP:0000639 ! abnormal adrenal gland morphology [Term] id: MP:0000643 name: absent adrenal medulla def: "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" [ISBN:0-683-40008-8, MGI:llw2] synonym: "absent adrenal gland medulla" EXACT [] synonym: "absent central medulla" NARROW [] synonym: "absent suprarenal gland medulla" EXACT [] is_a: MP:0008289 ! abnormal adrenal medulla morphology [Term] id: MP:0000644 name: dextrocardia def: "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)" [https://orcid.org/0000-0002-6490-7723, MESH:C14.240.400.280] subset: CvDC_Terms xref: Fyler:0110 xref: Fyler:110 is_a: MP:0006065 ! abnormal heart position or orientation [Term] id: MP:0000645 name: absent adrenergic chromaffin cells def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:10357937] synonym: "absence of adrenergic chromaffin cells" EXACT [] synonym: "loss of adrenergic chromaffin cells" EXACT [] is_a: MP:0003834 ! abnormal adrenergic chromaffin cell morphology [Term] id: MP:0000646 name: enlarged adrenocortical cells def: "larger size of cells of the steroid hormone-producing cells of the cortex of the adrenal gland" [ISBN:0-683-40008-8, PMID:10357937] synonym: "adrenocortical cell hypertrophy" RELATED [] synonym: "enlarged cortical cells" BROAD [] synonym: "increased adrenocortical cell size" EXACT [] is_a: MP:0008291 ! abnormal adrenocortical cell morphology [Term] id: MP:0000647 name: abnormal sebaceous gland morphology alt_id: MP:0001226 def: "any structural anomaly of the holocrine glands that secrete sebum into the hair follicles or in hairless areas into ducts" [MGI:tc] synonym: "sebaceous gland dysplasia" EXACT [] is_a: MP:0013543 ! abnormal holocrine gland morphology is_a: MP:0030572 ! abnormal pilosebaceous unit morphology [Term] id: MP:0000648 name: absent sebaceous gland alt_id: MP:0001227 def: "absence of the holocrine glands of the dermis that secrete sebum into the hair follicles" [MGI:tc, PMID:10227294] synonym: "absence of sebaceous glands" EXACT [] synonym: "loss of sebaceous glands" BROAD [] is_a: MP:0000647 ! abnormal sebaceous gland morphology [Term] id: MP:0000649 name: sebaceous gland atrophy alt_id: MP:0001228 def: "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" [https://orcid.org/0000-0003-3691-0324, PMID:8941642] synonym: "atrophic sebaceous gland" EXACT [] is_a: MP:0012725 ! small sebaceous gland [Term] id: MP:0000650 name: mesocardia def: "congenital defect in which the heart is located in the middle of the thorax instead of on the left side (levocardia, the normal position)" [https://orcid.org/0000-0002-6490-7723] subset: CvDC_Terms xref: Fyler:0140 xref: Fyler:140 is_a: MP:0006065 ! abnormal heart position or orientation [Term] id: MP:0000652 name: enlarged sebaceous gland alt_id: MP:0001229 def: "increased size of the sebum secreting glands of the hair shaft" [https://orcid.org/0000-0003-3691-0324] subset: IMPC subset: Sanger_Terms synonym: "increased sebaceous gland size" EXACT [] is_a: MP:0000647 ! abnormal sebaceous gland morphology [Term] id: MP:0000653 name: abnormal sex gland morphology def: "any structural anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction" [MGI:cwg] synonym: "abnormal genitalia gland morphology" EXACT [] synonym: "abnormal gland of genitalia" EXACT [] synonym: "abnormal gland of reproductive system" EXACT [] synonym: "abnormal reproductive gland morphology" EXACT [] synonym: "abnormal reproductive system gland morphology" EXACT [] synonym: "abnormal sex glands" BROAD [] synonym: "sex gland dysplasia" EXACT [] is_a: MP:0002160 ! abnormal reproductive system morphology is_a: MP:0002163 ! abnormal gland morphology [Term] id: MP:0000654 name: absent sex gland def: "missing any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction" [ISBN:0-683-40008-8] synonym: "absence of sex glands" EXACT [] is_a: MP:0000653 ! abnormal sex gland morphology [Term] id: MP:0000655 name: dilated sex gland alt_id: MP:0001118 def: "stretched appearance or excessive fluid in one or more sex glands" [J:62478] synonym: "dilated sex glands" EXACT [] synonym: "dilation of sex glands" EXACT [] synonym: "sex gland dilation" EXACT [] is_a: MP:0000653 ! abnormal sex gland morphology [Term] id: MP:0000659 name: prostate gland hyperplasia alt_id: MP:0001160 def: "increase in the number of normal cells in normal arrangement in the prostate gland, typically resulting in increased size" [ISBN:0-683-40008-8, PMID:10906459] synonym: "hyperplastic prostate gland" EXACT [] is_a: MP:0004958 ! enlarged prostate gland [Term] id: MP:0000660 name: prostate gland lateral lobe hypoplasia alt_id: MP:0001161 def: "decrease in the number of normal cells in normal arrangement in the prostate gland lateral lobe, typically resulting in decreased size" [ISBN:0-683-40008-8, PMID:10906459] synonym: "hypoplastic lateral prostate" EXACT [] synonym: "hypoplastic lateral prostate lobe" EXACT [] synonym: "lateral prostate gland hypoplasia" EXACT [] synonym: "lateral prostate hypoplasia" EXACT [] synonym: "LP hypoplasia" EXACT [] is_a: MP:0009381 ! abnormal prostate gland dorsolateral lobe morphology [Term] id: MP:0000661 name: small prostate gland ventral lobe alt_id: MP:0001162 def: "reduced size of the rodent prostate lobe that is located below the ventral aspect of the bladder neck" [PMID:10906459, PMID:12645922, PMID:3308446] synonym: "decreased prostate gland ventral lobe size" EXACT [] synonym: "small ventral prostate gland" EXACT [] synonym: "small VP" EXACT [] is_a: MP:0009380 ! abnormal prostate gland ventral lobe morphology [Term] id: MP:0000662 name: abnormal branching of the mammary ductal tree def: "anomaly in the development of the channels that secrete milk and direct milk to the nipple" [https://orcid.org/0000-0003-4606-0597] is_a: MP:0000628 ! abnormal mammary gland development is_a: MP:0009503 ! abnormal mammary gland duct morphology [Term] id: MP:0000664 name: small prostate gland anterior lobe alt_id: MP:0001164 def: "reduced size of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles" [PMID:11002344, PMID:12645922, PMID:3308446] synonym: "decreased prostate gland anterior lobe size" EXACT [] synonym: "small AP" EXACT [] synonym: "small coagulating gland" EXACT [] is_a: MP:0001163 ! abnormal prostate gland anterior lobe morphology [Term] id: MP:0000665 name: decreased ductal branching in the coagulating gland alt_id: MP:0001165 def: "fewer branches and distal tips of the vesicles of the coagulating gland" [PMID:11002344] synonym: "decreased ductal branching, coagulating gland" EXACT [] synonym: "reduced ductal branching in the coagulating gland" EXACT [] is_a: MP:0009736 ! abnormal prostate gland branching morphogenesis [Term] id: MP:0000666 name: decreased prostate gland duct number alt_id: MP:0001166 def: "fewer than normal minute canals that pass the prostatic secretions to the urethra" [ISBN:0-683-40008-8, PMID:10906459] synonym: "decreased number of prostate ducts" EXACT [] synonym: "decreased prostate duct number" EXACT [] synonym: "reduced number of prostate ducts" EXACT [] synonym: "reduced prostate duct number" EXACT [] is_a: MP:0009734 ! abnormal prostate gland duct morphology [Term] id: MP:0000671 name: bulbourethral gland hypoplasia alt_id: MP:0001171 def: "decrease in the number of normal cells in normal arrangement in the bulbourethral gland, typically resulting in decreased size" [ISBN:0-683-40008-8, PMID:10215624] synonym: "bulbo-urethral gland hypoplasia" EXACT [] synonym: "Cowper's gland hypoplasia" EXACT [] synonym: "hypoplastic bulbourethral gland" EXACT [] synonym: "Mery gland hypoplasia" EXACT [] synonym: "reduced bulbourethral gland cellularity" EXACT [] is_a: MP:0013737 ! small bulbourethral gland [Term] id: MP:0000672 name: obsolete decreased mucin cell number alt_id: MP:0001172 def: "OBSOLETE. fewer than normal number of cells that secrete fluid containing carbohydrate-rich glycoproteins" [ISBN:0-683-40008-8] synonym: "reduced mucin cell number" EXACT [] synonym: "reduced number of mucin cells" EXACT [] is_obsolete: true [Term] id: MP:0000674 name: abnormal sweat gland morphology def: "any structural anomaly of any of the coil glands of the skin that secrete sweat" [ISBN:0-683-40008-8] synonym: "abnormal sweat glands" BROAD [] synonym: "sweat gland dysplasia" EXACT [] is_a: MP:0010678 ! abnormal skin adnexa morphology is_a: MP:0013558 ! abnormal exocrine gland morphology [Term] id: MP:0000675 name: abnormal eccrine sweat gland morphology def: "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" [https://orcid.org/0000-0003-3691-0324, PMID:15843440] comment: The palmar and plantar eccrine glands of rodents are thought to provide enhanced tactile sensitivity rather than serving the thermoregulatory role ascribed to eccrine glands of the thin skin in humans. synonym: "abnormal palmar eccrine gland morphology" NARROW [] synonym: "abnormal palmar eccrine glands" NARROW [] synonym: "abnormal palmar sweat gland morphology" NARROW [] synonym: "abnormal palmar sweat glands" NARROW [] synonym: "palmar eccrine gland dysplasia" NARROW [] is_a: MP:0000572 ! abnormal autopod morphology is_a: MP:0000674 ! abnormal sweat gland morphology is_a: MP:0013544 ! abnormal merocrine gland morphology [Term] id: MP:0000676 name: abnormal body water content def: "more or less than the normal total amount of water retained in the body" [MGI:il] is_a: MP:0005451 ! abnormal body composition [Term] id: MP:0000678 name: abnormal parathyroid gland morphology alt_id: MP:0001735 def: "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" [ISBN:0-683-40008-8] synonym: "abnormal parathyroid glands" BROAD [] synonym: "parathyroid gland dysplasia" EXACT [] is_a: MP:0013560 ! abnormal endocrine gland morphology [Term] id: MP:0000679 name: increased percent water in carcass def: "more than the normal total amount of water retained in the body measured post mortem" [MGI:il] synonym: "increased percentage water in carcass" EXACT [] is_a: MP:0000676 ! abnormal body water content [Term] id: MP:0000680 name: absent parathyroid glands alt_id: MP:0001736 def: "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)" [ISBN:0-683-40008-8] synonym: "absence of parathyroid glands" EXACT [] synonym: "loss of parathyroid glands" EXACT [] is_a: MP:0000678 ! abnormal parathyroid gland morphology [Term] id: MP:0000681 name: abnormal thyroid gland morphology alt_id: MP:0001737 alt_id: MP:0003500 def: "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" [ISBN:0-683-40008-8] synonym: "abnormal thyroid glands" BROAD [] synonym: "abnormal thyroid morphology" EXACT [] synonym: "thyroid dysplasia" EXACT [] is_a: MP:0013560 ! abnormal endocrine gland morphology [Term] id: MP:0000683 name: decreased percent water in carcass def: "less than the normal total amount of water retained in the body measured post mortem" [MGI:il] synonym: "decreased percentage water in carcass" EXACT [] synonym: "reduced percent water in carcass" EXACT [] is_a: MP:0000676 ! abnormal body water content [Term] id: MP:0000685 name: abnormal immune system morphology def: "any structural anomaly in the organs or cells associated with the development and formation of lymphocytes" [MGI:cwg] synonym: "immune system abnormalities" BROAD [] synonym: "immune system dysplasia" EXACT [] synonym: "lymphoid system abnormalities" BROAD [] synonym: "lymphopoietic system abnormalities" BROAD [] is_a: MP:0005387 ! immune system phenotype [Term] id: MP:0000687 name: small lymphoid organs def: "reduced size of lymphatic tissues" [ISBN:0-683-40008-8, J:34193] is_a: MP:0002221 ! abnormal lymph organ size [Term] id: MP:0000688 name: lymphoid hyperplasia def: "increase in the number of normal cells in normal arrangement in the lymphoid tissue, typically resulting in increased size" [MGI:cwg] synonym: "hyperplastic lymph organ" EXACT [] synonym: "increased lymphoid tissue cellularity" EXACT [] synonym: "lymph organ hyperplasia" EXACT [] is_a: MP:0002220 ! large lymphoid organs [Term] id: MP:0000689 name: abnormal spleen morphology alt_id: MP:0002226 def: "any structural anomaly of the organ that functions to filter blood and to store red corpuscles and platelets" [ISBN:0-683-40008-8] synonym: "abnormal spleen structure" EXACT [] synonym: "abnormal splenic morphology" EXACT [] synonym: "spleen abnormalities" BROAD [] synonym: "spleen dysplasia" EXACT [] is_a: MP:0002396 ! abnormal hematopoietic system morphology/development is_a: MP:0002722 ! abnormal immune system organ morphology [Term] id: MP:0000690 name: absent spleen def: "missing organ that functions to filter blood and to store red corpuscles and platelets" [ISBN:0-683-40008-8, PMID:10572046] subset: CvDC_Terms synonym: "absence of spleen" EXACT [] synonym: "asplenia" EXACT [] synonym: "splenic agenesis" EXACT [] xref: Fyler:4771 is_a: MP:0000689 ! abnormal spleen morphology [Term] id: MP:0000691 name: enlarged spleen def: "increased spleen size" [MGI:cwg] synonym: "increased spleen size" EXACT [] synonym: "megosplenia" EXACT [] synonym: "splenomegalia" EXACT [] synonym: "splenomegaly" EXACT [] is_a: MP:0002224 ! abnormal spleen size is_a: MP:0013328 ! visceromegaly [Term] id: MP:0000692 name: small spleen def: "decreased spleen size" [MGI:cwg] synonym: "decreased spleen size" EXACT [] synonym: "decreased splenic size" EXACT [] synonym: "hyposplenia" EXACT [] synonym: "reduced spleen size" EXACT [] is_a: MP:0002224 ! abnormal spleen size [Term] id: MP:0000693 name: spleen hyperplasia def: "increase in the number of normal cells in normal arrangement in the spleen, typically resulting in increased size" [ISBN:0-683-40008-8, PMID:8646780] synonym: "hyperplastic spleen" EXACT [] synonym: "increased spleen cellularity" EXACT [] synonym: "splenic hyperplasia" EXACT [] is_a: MP:0000691 ! enlarged spleen [Term] id: MP:0000694 name: spleen hypoplasia alt_id: MP:0002466 def: "decrease in the number of normal cells in normal arrangement in the spleen, typically resulting in decreased size" [MGI:cwg] synonym: "decreased spleen cellularity" EXACT [] synonym: "hypoplastic spleen" EXACT [] synonym: "splenic hypoplasia" EXACT [] is_a: MP:0000692 ! small spleen [Term] id: MP:0000696 name: abnormal Peyer's patch morphology def: "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" [MESH:A10.549.600, PMID:15841100] synonym: "abnormal Peyer's patches" BROAD [] is_a: MP:0002378 ! abnormal gut-associated lymphoid tissue morphology [Term] id: MP:0000697 name: obsolete more prevalent Peyer's patches def: "OBSOLETE. greater or more obvious numbers of Peyer's patches" [MGI:cwg] is_obsolete: true consider: MP:0008132 consider: MP:0008136 [Term] id: MP:0000698 name: obsolete less prevalent Peyer's patches def: "OBSOLETE. fewer or less obvious numbers of Peyer's patches" [MGI:cwg] is_obsolete: true consider: MP:0008133 consider: MP:0008135 [Term] id: MP:0000700 name: abnormal lymph node number def: "deviation from the normal number of lymph nodes" [MGI:cwg] is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0000701 name: abnormal lymph node size def: "deviation from the normal lymph node size" [MGI:cwg] is_a: MP:0002221 ! abnormal lymph organ size is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0000702 name: enlarged lymph nodes def: "lymph nodes of increased size" [MGI:cwg] synonym: "adenopathy" EXACT [] synonym: "increased lymph node size" EXACT [] synonym: "lymphadenopathy" EXACT [] is_a: MP:0000701 ! abnormal lymph node size [Term] id: MP:0000703 name: abnormal thymus morphology alt_id: MP:0002366 def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal thymic morphology" EXACT [] synonym: "abnormal thymus structure" EXACT [] synonym: "thymus abnormalities" BROAD [] synonym: "thymus dysplasia" EXACT [] is_a: MP:0002396 ! abnormal hematopoietic system morphology/development is_a: MP:0002722 ! abnormal immune system organ morphology is_a: MP:0013560 ! abnormal endocrine gland morphology [Term] id: MP:0000704 name: abnormal thymus development def: "anomaly in the formation and/or differentiation of the thymus" [MGI:cwg] comment: in mouse, the parathyroid glands 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; the parathyroids locate adjacent to, or sometimes embedded within, the thyroid gland; the thymus migrates further caudally into the thorax, where the two lobes meet at the midline just above the heart; embryonic thymic remnants can give rise to ectopic thymic tissue in the neck, thyroid, and parathyroid glands; the thymus is the first of the lymphoid organs to be formed and grows considerably immediately after birth in response to postnatal antigen stimulation and the demand for large numbers of mature T cells; in rats and mice, the thymus reaches maximal size by sexual maturity and then gradually involutes {xref="PMID:17067941", xref="http://dev.biologists.org/content/138/18/3865.full.pdf", xref="PMID:21862553"} synonym: "abnormal development of the thymus" EXACT [] synonym: "abnormal thymic development" EXACT [] synonym: "abnormal thymus organogenesis" EXACT [] is_a: MP:0000703 ! abnormal thymus morphology is_a: MP:0020973 ! abnormal gland development is_a: MP:0020981 ! abnormal immune system development [Term] id: MP:0000705 name: athymia def: "absence of the primary lymphoid organ" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "Absence of Thymus" EXACT [] synonym: "absent thymus" EXACT [] synonym: "athymic" EXACT [] is_a: MP:0000703 ! abnormal thymus morphology [Term] id: MP:0000706 name: small thymus def: "reduced size of the thymus" [MGI:cwg] synonym: "decreased thymus size" EXACT [] synonym: "reduced thymus size" EXACT [] is_a: MP:0002364 ! abnormal thymus size [Term] id: MP:0000708 name: thymus hyperplasia def: "increase in the number of normal cells in normal arrangement in the thymus, typically resulting in increased size" [ISBN:0-683-40008-8, PMID:8646780] synonym: "hyperplastic thymus" EXACT [] synonym: "increased thymus cellularity" EXACT [] synonym: "thymic hyperplasia" EXACT [] is_a: MP:0000709 ! enlarged thymus [Term] id: MP:0000709 name: enlarged thymus def: "increased size of thymus" [PMID:9744866] synonym: "increased thymus size" EXACT [] is_a: MP:0002364 ! abnormal thymus size [Term] id: MP:0000711 name: thymus cortex hypoplasia alt_id: MP:0005045 def: "decrease in the number of normal cells in normal arrangement in the tymus cortex, typically resulting in decreased size" [ISBN:0-683-40008-8] synonym: "decreased cellularity of thymic cortex" EXACT [] synonym: "decreased thymic cortex cellularity" EXACT [] synonym: "hypoplasia of thymic cortex" EXACT [] synonym: "hypoplastic thymus cortex" EXACT [] synonym: "thymic cortex hypoplasia" EXACT [] is_a: MP:0013592 ! small thymus cortex [Term] id: MP:0000712 name: obsolete abnormal thymocyte alt_id: MP:0002372 def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal thymocytes" EXACT [] is_obsolete: true consider: MP:0008037 [Term] id: MP:0000713 name: obsolete abnormal thymocyte number def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0006387 [Term] id: MP:0000714 name: increased thymocyte number alt_id: MP:0000326 alt_id: MP:0000721 alt_id: MP:0001827 def: "greater than expected number of immature T cells located in the thymus" [CL:0000893] synonym: "increased thymocyte count" EXACT [] xref: CL:0000893 is_a: MP:0000703 ! abnormal thymus morphology is_a: MP:0005015 ! increased T cell number [Term] id: MP:0000715 name: decreased thymocyte number alt_id: MP:0000338 alt_id: MP:0000725 alt_id: MP:0001826 def: "fewer than expected number of immature T cells located in the thymus" [CL:0000893] synonym: "reduced thymocyte number" EXACT [] xref: CL:0000893 is_a: MP:0000703 ! abnormal thymus morphology is_a: MP:0005018 ! decreased T cell number [Term] id: MP:0000716 name: abnormal immune system cell morphology def: "any structural anomaly of immune cells" [MGI:cwg] synonym: "abnormal immune cells" BROAD [] synonym: "immune system: cellular abnormalities" BROAD [] is_a: MP:0000685 ! abnormal immune system morphology [Term] id: MP:0000717 name: abnormal lymphocyte cell number def: "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" [https://orcid.org/0000-0003-3691-0324, MGI:cwg] synonym: "abnormal immune cell number" BROAD [] is_a: MP:0000217 ! abnormal leukocyte cell number is_a: MP:0002619 ! abnormal lymphocyte morphology [Term] id: MP:0000726 name: absent lymphocyte def: "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" [https://orcid.org/0000-0003-3691-0324, MGI:cwg] synonym: "absence of immune cell" BROAD [] synonym: "absence of lymphocyte" EXACT [] synonym: "loss of immune cell" BROAD [] is_a: MP:0005016 ! decreased lymphocyte cell number [Term] id: MP:0000727 name: absent CD8-positive, alpha-beta T cells alt_id: MP:0000345 def: "lack of the set of single-positive T cells that express CD8 on their surface" [MGI:cwg] synonym: "absence of CD4-8+ Cells" EXACT [] synonym: "absence of CD4-8+ cells" EXACT [] synonym: "absent CD4-8+ T cells" EXACT [] synonym: "absent CD8+ T cells" EXACT [] synonym: "absent single positive T cells" BROAD [] synonym: "Loss of CD4-8+ cells" EXACT [] is_a: MP:0008079 ! decreased CD8-positive, alpha-beta T cell number [Term] id: MP:0000729 name: abnormal myogenesis def: "anomaly in embryonic formation of muscle cells or fibers" [ISBN:0-683-40008-8] synonym: "myogenesis abnormalities" EXACT [] is_a: MP:0000733 ! abnormal muscle development [Term] id: MP:0000730 name: increased satellite cell number def: "greater number of unfused cells in muscle that play a role in muscle regeneration" [PMID:9284044] synonym: "increased number of satellite cells" EXACT [] is_a: MP:0000759 ! abnormal skeletal muscle morphology [Term] id: MP:0000731 name: increased collagen deposition in the muscles def: "accumulation of collagen within the muscles" [MGI:cwg] is_a: MP:0000733 ! abnormal muscle development [Term] id: MP:0000732 name: delayed primary myocyte appearance def: "development of initial muscle cells at a later time than is normal" [MGI:cwg] is_a: MP:0000729 ! abnormal myogenesis [Term] id: MP:0000733 name: abnormal muscle development def: "any anomaly in the differentiation of muscle tissue" [MGI:cwg] synonym: "muscle development abnormalities" EXACT [] is_a: MP:0002108 ! abnormal muscle morphology [Term] id: MP:0000734 name: muscle hypoplasia def: "decrease in the number of normal cells in normal arrangement in the muscle, typically resulting in decreased size" [https://orcid.org/0000-0003-3691-0324] synonym: "hypoplastic muscle" EXACT [] is_a: MP:0002108 ! abnormal muscle morphology [Term] id: MP:0000736 name: delayed muscle development def: "late onset of the induction and/or differentiation of skeletal muscle" [PMID:7926784] is_a: MP:0000733 ! abnormal muscle development [Term] id: MP:0000737 name: abnormal myotome development def: "malformation of or absence of the part of the somite that develops into the musculature" [ISBN:0-683-40008-8] is_a: MP:0000729 ! abnormal myogenesis [Term] id: MP:0000738 name: impaired muscle contractility def: "inability or reduced ability of a muscle to shorten or to develop increased tension" [ISBN:0-683-40008-8] is_a: MP:0005620 ! abnormal muscle contractility [Term] id: MP:0000740 name: impaired smooth muscle contractility def: "inability or reduced ability of the smooth muscle to shorten or to develop increased tension" [ISBN:0-683-40008-8] is_a: MP:0000738 ! impaired muscle contractility [Term] id: MP:0000741 name: impaired contractility of urinary bladder detrusor smooth muscle def: "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" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "impaired contractility of detrusor muscle" EXACT [] synonym: "impaired contractility of detrusor urinae muscle" EXACT [] synonym: "impaired contractility of musculus detrusor" EXACT [] is_a: MP:0000740 ! impaired smooth muscle contractility is_a: MP:0010386 ! abnormal urinary bladder physiology [Term] id: MP:0000742 name: impaired contractility of ileal smooth muscle def: "inability or reduced ability of the ileal smooth muscle to shorten or to develop increased tension" [ISBN:0-683-40008-8] is_a: MP:0004005 ! impaired contractility of intestinal smooth muscle [Term] id: MP:0000743 name: muscle spasm alt_id: MP:0000744 def: "an involuntary and often painful muscle contraction or cramps having a number of causes ranging from nutritional deficiency to serious nervous system conditions" [https://orcid.org/0000-0003-3691-0324, MGI:llw2] synonym: "muscle spasms" EXACT [] is_a: MP:0009046 ! muscle twitch [Term] id: MP:0000745 name: tremors def: "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [ISBN:0-683-40008-8, MESH:C10.597.350.850] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "quivering" EXACT [] synonym: "shaking" EXACT [] synonym: "shivering" BROAD [] synonym: "trembling" EXACT [] synonym: "tremor" EXACT [] is_a: MP:0003492 ! abnormal involuntary movement [Term] id: MP:0000746 name: weakness def: "state of being infirm or less strong than normal" [PMID:9420327] is_a: MP:0004262 ! abnormal physical strength [Term] id: MP:0000747 name: muscle weakness def: "loss of muscle strength" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0000748 name: progressive muscle weakness def: "increasing loss of muscle strength over time" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0000747 ! muscle weakness [Term] id: MP:0000749 name: muscle degeneration def: "pathological deterioration of muscle tissue, often accompanied by loss of function" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002108 ! abnormal muscle morphology [Term] id: MP:0000750 name: abnormal muscle regeneration alt_id: MP:0002547 def: "anomaly in the renewal, repair, and/or regrowth of muscle tissue following injury or disease" [https://orcid.org/0000-0002-6490-7723, PMID:9284044] synonym: "muscle regeneration abnormalities" EXACT [] is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0000751 name: myopathy def: "any abnormal condition or disease of the skeletal muscle" [ISBN:0-683-40008-8, PMID:9284044] is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0000752 name: dystrophic muscle def: "progressive weakness and wasting of muscle" [ISBN:0-683-40008-8] synonym: "muscular dystrophy" BROAD [] is_a: MP:0002108 ! abnormal muscle morphology [Term] id: MP:0000753 name: paralysis def: "severe or complete loss of power of voluntary movement in a muscle through injury or disease of its nerve supply" [ISBN:0-683-40008-8] is_a: MP:0003491 ! abnormal voluntary movement [Term] id: MP:0000754 name: paresis def: "mild or partial loss of power of voluntary movement in a muscle through injury or disease of it or its nerve supply" [ISBN:0-683-40008-8] synonym: "partial paralysis" EXACT [] is_a: MP:0003491 ! abnormal voluntary movement [Term] id: MP:0000755 name: hindlimb paralysis def: "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" [ISBN:0-683-40008-8] subset: IMPC subset: Sanger_Terms synonym: "hind limb paralysis" EXACT [] is_a: MP:0013147 ! limb paralysis [Term] id: MP:0000756 name: forelimb paralysis def: "severe or complete loss of power of voluntary movement in muscles of the forelimb through injury or disease of it or its nerve supply" [ISBN:0-683-40008-8] synonym: "fore limb paralysis" EXACT [] is_a: MP:0013147 ! limb paralysis [Term] id: MP:0000757 name: herniated abdominal wall def: "protrusions through and/or into the abdominal wall often resulting in the extrusion of viscera" [ISBN:0-683-40008-8, PMID:9144284] subset: CvDC_Terms synonym: "abdominoschisis" EXACT [] synonym: "gastroschisis" EXACT [] synonym: "laparoschisis" EXACT [] synonym: "paraomphalocele" EXACT [] xref: Fyler:4414 is_a: MP:0003257 ! abnormal abdominal wall morphology [Term] id: MP:0000759 name: abnormal skeletal muscle morphology def: "any structural anomaly of any of the striated muscle fibers connected at either or both extremities with the bony framework of the body" [ISBN:0-683-40008-8] synonym: "abnormal skeletal muscles" BROAD [] synonym: "abnormal striated muscle morphology" RELATED [] synonym: "skeletal muscle abnormalities" BROAD [] synonym: "skeletal muscle dysplasia" EXACT [] is_a: MP:0002108 ! abnormal muscle morphology [Term] id: MP:0000761 name: thin diaphragm muscle def: "reduced thickness of the diaphragm muscle" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002279 ! abnormal diaphragm morphology [Term] id: MP:0000762 name: abnormal tongue morphology def: "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" [ISBN:0-683-40008-8] synonym: "tongue abnormalities" BROAD [] synonym: "tongue dysplasia" EXACT [] is_a: MP:0000452 ! abnormal mouth morphology is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0000763 name: abnormal filiform papillae morphology def: "any structural anomaly of the keratinized projections on the dorsal surface of the tongue" [PMID:9420327] synonym: "filiform papillae dysplasia" EXACT [] is_a: MP:0000764 ! abnormal tongue epithelium morphology [Term] id: MP:0000764 name: abnormal tongue epithelium morphology def: "any structural anomaly of the epithelial layer of the tongue" [ISBN:0-683-40008-8, MGI:tc] synonym: "tongue epithelium dysplasia" EXACT [] is_a: MP:0000762 ! abnormal tongue morphology [Term] id: MP:0000765 name: abnormal tongue squamous epithelium morphology def: "any structural anomaly of the scaly epithelial layer of the tongue" [ISBN:0-683-40008-8, MGI:tc] synonym: "tongue squamous epithelium dysplasia" EXACT [] is_a: MP:0000764 ! abnormal tongue epithelium morphology [Term] id: MP:0000766 name: absent tongue squamous epithelium def: "missing the scaly epithelial layer of the tongue" [ISBN:0-683-40008-8, MGI:tc, PMID:10227294] synonym: "absence of tongue squamous epithelium" EXACT [] synonym: "loss of tongue squamous epithelium" EXACT [] is_a: MP:0000765 ! abnormal tongue squamous epithelium morphology [Term] id: MP:0000767 name: abnormal smooth muscle morphology def: "any structural anomaly of any of the unstriated muscle fibers of the internal organs, blood vessels, hair follicles, etc." [ISBN:0-683-40008-8] synonym: "smooth muscle abnormalities" BROAD [] synonym: "smooth muscle dysplasia" EXACT [] is_a: MP:0002108 ! abnormal muscle morphology [Term] id: MP:0000768 name: obsolete nervous system abnormalities def: "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" [https://orcid.org/0000-0003-3691-0324, MESH:A08] synonym: "nervous system defects" EXACT [] is_obsolete: true consider: MP:0003633 consider: MP:0006387 [Term] id: MP:0000771 name: abnormal brain size def: "deviation from the average range of brain size for an organism" [https://orcid.org/0000-0003-3691-0324] synonym: "brain size abnormalities" EXACT [] is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0000774 name: decreased brain size alt_id: MP:0000772 def: "smaller appearance of the brain" [PMID:8837770] subset: IMPC subset: Sanger_Terms synonym: "micrencephaly" EXACT [] synonym: "microencephaly" EXACT [] synonym: "reduced brain size" EXACT [] synonym: "small brain" EXACT [] synonym: "smaller brain size" EXACT [] is_a: MP:0000771 ! abnormal brain size [Term] id: MP:0000776 name: abnormal inferior colliculus morphology alt_id: MP:0000902 def: "any structural anomaly of the paired inferior eminence of the mesencephalic tectum that is involved in preliminary visual processing, and control of eye movements" [ISBN:0-683-40008-8] synonym: "abnormal corpora quadrigeminum posterius morphology" EXACT [] synonym: "abnormal inferior nasal colliculus morphology" EXACT [] synonym: "abnormal posterior quadrigeminal body morphology" EXACT [] synonym: "inferior colliculus dysplasia" EXACT [] is_a: MP:0000899 ! abnormal corpora quadrigemina morphology [Term] id: MP:0000777 name: increased inferior colliculus size alt_id: MP:0000903 def: "enlargement of the paired inferior eminence of the mesencephalic tectum" [ISBN:0-683-40008-8, J:57538] synonym: "increased corpora quadrigeminum posterius size" EXACT [] synonym: "increased inferior nasal colliculus size" EXACT [] synonym: "increased posterior quadrigeminal body size" EXACT [] synonym: "increased size of inferior colliculus" EXACT [] is_a: MP:0000776 ! abnormal inferior colliculus morphology [Term] id: MP:0000778 name: abnormal nervous system tract morphology def: "any structural anomaly in the structure of any bundle of myelinated nerve fibers following a defined path through the brain and/or spinal cord" [https://orcid.org/0000-0002-0371-1954] synonym: "abnormal tract" BROAD [] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0000779 name: obsolete gliosis of tract def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0002183 [Term] id: MP:0000780 name: abnormal corpus callosum morphology def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "corpus callosum dysplasia" EXACT [] is_a: MP:0008219 ! abnormal dorsal telencephalic commissure morphology is_a: MP:0008540 ! abnormal cerebral hemisphere morphology [Term] id: MP:0000781 name: decreased corpus callosum size def: "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" [ISBN:0-683-40008-8] subset: IMPC subset: Sanger_Terms synonym: "decreased size of corpus callosum" EXACT [] synonym: "reduced corpus callosum size" EXACT [] synonym: "reduced size of corpus callosum" EXACT [] is_a: MP:0020573 ! abnormal corpus callosum size [Term] id: MP:0000783 name: abnormal forebrain morphology def: "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)" [GO:0048853] synonym: "abnormal prosencephalon morphology" EXACT [] synonym: "forebrain dysplasia" EXACT [] is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0000784 name: forebrain hypoplasia def: "decrease in the number of normal cells in normal arrangement in the forebrain, typically resulting in decreased size" [GO:0048853] synonym: "hypoplastic forebrain" EXACT [] synonym: "prosencephalon hypoplasia" EXACT [] is_a: MP:0012138 ! decreased forebrain size [Term] id: MP:0000785 name: telencephalon hypoplasia def: "decrease in the number of normal cells in normal arrangement in the telencephalon, typically resulting in decreased size" [ISBN:0-683-40008-8, PMID:9362461] synonym: "hypoplastic telencephalon" EXACT [] is_a: MP:0000787 ! abnormal telencephalon morphology [Term] id: MP:0000786 name: abnormal embryonic neuroepithelial layer differentiation def: "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" [PMID:9362461] is_a: MP:0000913 ! abnormal brain development is_a: MP:0004261 ! abnormal embryonic neuroepithelium morphology [Term] id: MP:0000787 name: abnormal telencephalon morphology alt_id: MP:0000782 def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "telencephalon dysplasia" EXACT [] is_a: MP:0000783 ! abnormal forebrain morphology [Term] id: MP:0000788 name: abnormal cerebral cortex morphology def: "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" [MESH:A08.186.211.730.885.287.500] synonym: "abnormal pallium morphology" EXACT [] synonym: "cerebral cortex dysplasia" EXACT [] synonym: "pallium dysplasia" EXACT [] is_a: MP:0008540 ! abnormal cerebral hemisphere morphology [Term] id: MP:0000789 name: thickened cerebral cortex def: "increased depth of the mantle covering the surface of the cerebral hemispheres" [ISBN:0-683-40008-8] subset: IMPC subset: Sanger_Terms is_a: MP:0000788 ! abnormal cerebral cortex morphology [Term] id: MP:0000790 name: abnormal stratification in cerebral cortex def: "abnormal formation or pattern of the layers of the cerebral cortex" [https://orcid.org/0000-0003-3691-0324, J:64289] synonym: "abnormal cerebral cortex stratification" EXACT [] synonym: "abnormal stratification in neocortex" EXACT [] is_a: MP:0000788 ! abnormal cerebral cortex morphology [Term] id: MP:0000791 name: delaminated cerebral cortex def: "splitting of the layers of the grey cellular mantle covering the surface of the brain" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:9010203] synonym: "delaminated neocortex" EXACT [] is_a: MP:0000788 ! abnormal cerebral cortex morphology [Term] id: MP:0000792 name: abnormal cortical marginal zone morphology def: "any structural anomaly of the developing superficial cortical layer located just under the pia matter" [https://orcid.org/0000-0003-3691-0324, PMID:1812236] synonym: "abnormal MZ morphology" EXACT [] synonym: "cortical marginal zone dysplasia" EXACT [] is_a: MP:0000934 ! abnormal telencephalon development [Term] id: MP:0000794 name: abnormal parietal lobe morphology def: "any structural anomaly of the upper central part of the cerebral hemisphere" [MESH:A08.186.211.730.885.287.500.670] synonym: "parietal lobe dysplasia" EXACT [] is_a: MP:0008540 ! abnormal cerebral hemisphere morphology [Term] id: MP:0000795 name: abnormal postcentral gyrus morphology def: "any structural anomaly of the area of the parietal lobe that receives general sensation from the body" [https://orcid.org/0000-0003-3691-0324] synonym: "postcentral gyrus dysplasia" EXACT [] is_a: MP:0000794 ! abnormal parietal lobe morphology [Term] id: MP:0000796 name: abnormal sensory dissociation area morphology def: "any structural anomaly of the area of the parietal lobe that integrates tactile and visual stimuli" [https://orcid.org/0000-0003-3691-0324] synonym: "sensory dissociation area dysplasia" EXACT [] is_a: MP:0000794 ! abnormal parietal lobe morphology [Term] id: MP:0000797 name: abnormal supramarginal gyrus morphology def: "any structural anomaly of the area of the frontal lobe that is involved in perception based on sensory stimuli" [https://orcid.org/0000-0003-3691-0324] synonym: "supramarginal gyrus dysplasia" EXACT [] is_a: MP:0000794 ! abnormal parietal lobe morphology [Term] id: MP:0000798 name: abnormal frontal lobe morphology def: "any structural anomaly of the anterior part of the cerebral hemisphere" [MESH:A08.186.211.730.885.287.500.270] synonym: "frontal lobe dysplasia" EXACT [] is_a: MP:0008540 ! abnormal cerebral hemisphere morphology [Term] id: MP:0000799 name: abnormal precentral gyrus morphology def: "any structural anomaly of the area of the frontal lobe that contains the cell bodies of the primary motor pathways" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal primary motor area morphology" EXACT [] synonym: "precentral gyrus dysplasia" EXACT [] is_a: MP:0000798 ! abnormal frontal lobe morphology [Term] id: MP:0000800 name: abnormal supplemetal motor cortex morphology def: "any structural anomaly of the area of the frontal lobe that is involved with integration of voluntary movements and with speech" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal prefrontal gyrus morphology" EXACT [] synonym: "abnormal supplementary motor/speech area morphology" EXACT [] synonym: "prefrontal gyrus dysplasia" EXACT [] is_a: MP:0000798 ! abnormal frontal lobe morphology [Term] id: MP:0000801 name: abnormal temporal lobe morphology def: "any structural anomaly of the lower lateral part of the cerebral hemisphere" [MESH:A08.186.211.730.885.287.500.863] synonym: "temporal lobe dysplasia" EXACT [] is_a: MP:0008540 ! abnormal cerebral hemisphere morphology [Term] id: MP:0000802 name: abnormal superior temporal gyrus morphology def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal first temporal convolution morphology" EXACT [] synonym: "abnormal gyrus temporalis superior morphology" EXACT [] synonym: "abnormal superior temporal convolution morphology" EXACT [] synonym: "superior temporal gyrus dysplasia" EXACT [] is_a: MP:0000801 ! abnormal temporal lobe morphology [Term] id: MP:0000803 name: abnormal transverse gyrus of Heschl morphology def: "any structural anomaly of the area of the temporal lobe concerned with hearing" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal primary auditory area morphology" EXACT [] synonym: "transverse gyrus of Heschl dysplasia" EXACT [] is_a: MP:0004631 ! abnormal auditory cortex morphology [Term] id: MP:0000804 name: abnormal occipital lobe morphology def: "any structural anomaly of the posterior part of the cerebral hemisphere" [MESH:A08.186.211.730.885.287.500.571] synonym: "occipital lobe dysplasia" EXACT [] is_a: MP:0008540 ! abnormal cerebral hemisphere morphology [Term] id: MP:0000805 name: abnormal visual cortex morphology def: "any structural anomaly of the area of the occipital cortex concerned with vision" [MESH:A08.186.211.730.885.287.500.571.735] synonym: "abnormal striate cortex morphology" EXACT [] synonym: "striate cortex dysplasia" EXACT [] synonym: "visual cortex dysplasia" EXACT [] is_a: MP:0000788 ! abnormal cerebral cortex morphology is_a: MP:0000804 ! abnormal occipital lobe morphology [Term] id: MP:0000807 name: abnormal hippocampus morphology alt_id: MP:0000806 alt_id: MP:0000810 def: "any structural anomaly of the deep lying structure of the cerebrum involved with memory storage and spatial navigation" [https://orcid.org/0000-0003-3691-0324, ISBN:0-12-402035-6, PMID:9010203] comment: The synonym abnormal hippocampal formation is a frequently used synonym in the literature for the hippocampus. It is unfortunate that it implies a developmental process. There is also a lack of consensus relating to terms describing the hippocampus and/or the adjacent cerebral cortex with the term hippocampus sometimes referring to the hippocampal formation (or region) and sometimes only to the Ammon gyrus (Ammon's horn). In this ontology, we have used hippocampus to mean the entire formation (region). synonym: "abnormal hippocampal formation morphology" RELATED [] synonym: "abnormal hippocampal region" BROAD [] synonym: "abnormal hippocampus" BROAD [] synonym: "abnormal hippocampus region" BROAD [] synonym: "hippocampal defects" BROAD [] synonym: "hippocampus dysplasia" EXACT [] is_a: MP:0000801 ! abnormal temporal lobe morphology is_a: MP:0004166 ! abnormal limbic system morphology [Term] id: MP:0000808 name: abnormal hippocampus development def: "improper differentiation of the hippocampus" [MGI:tc] synonym: "abnormal hippocampal development" EXACT [] synonym: "hippocampal dysgenesis" EXACT [] is_a: MP:0000807 ! abnormal hippocampus morphology is_a: MP:0003232 ! abnormal forebrain development [Term] id: MP:0000809 name: absent hippocampus def: "missing convoluted brain structure below the cerebral hemispheres; forms part of the limbic system" [ISBN:0-683-40008-8, PMID:10631168] synonym: "absence of hippocampus" EXACT [] is_a: MP:0000807 ! abnormal hippocampus morphology [Term] id: MP:0000811 name: hippocampal neuron degeneration def: "a retrogressive impairment of function or destruction of the neuronal cells in the hippocampus" [J:72427, MGI:cml] synonym: "degenerating hippocampal neurons" EXACT [] is_a: MP:0003224 ! neuron degeneration is_a: MP:0009939 ! abnormal hippocampus neuron morphology [Term] id: MP:0000812 name: abnormal dentate gyrus morphology def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:9010203] subset: IMPC subset: Sanger_Terms synonym: "abnormal area dentata morphology" EXACT [] synonym: "abnormal dentate gyrus of hippocampal formation morphology" EXACT [] synonym: "abnormal fascia dentata morphology" EXACT [] synonym: "dentate gyrus dysplasia" EXACT [] is_a: MP:0000807 ! abnormal hippocampus morphology [Term] id: MP:0000813 name: abnormal hippocampus layer morphology def: "any structural anomaly of the layers of the laminar structure of the hippocampus" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal hippocampal laminar structure" EXACT [] synonym: "abnormal laminar structure of hippocampus" EXACT [] is_a: MP:0000807 ! abnormal hippocampus morphology [Term] id: MP:0000814 name: absent dentate gyrus def: "lack of the section of the hippocampus normally situated above the gyrus hippocampi and composed of three layers, the molecular, granular, and polymorphic layers" [ISBN:0-683-40008-8, PMID:10631168] synonym: "absence of dentate gyrus" EXACT [] is_a: MP:0000812 ! abnormal dentate gyrus morphology [Term] id: MP:0000815 name: abnormal Ammon gyrus morphology def: "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" [ISBN:0-683-40008-8] synonym: "abnormal Ammon horn morphology" EXACT [] synonym: "abnormal Ammon's horn morphology" EXACT [] synonym: "abnormal CA" BROAD [] synonym: "abnormal Cornu Ammonis morphology" EXACT [] synonym: "abnormal hippocampus proper morphology" EXACT [] synonym: "Ammon gyrus dysplasia" EXACT [] is_a: MP:0000807 ! abnormal hippocampus morphology [Term] id: MP:0000816 name: obsolete abnormal hippocampal molecular layer morphology def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal hippocampal molecular layer" EXACT [] is_obsolete: true replaced_by: MP:0008286 [Term] id: MP:0000818 name: abnormal amygdala morphology def: "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" [ISBN:0-683-40008-8, MESH:A08.186.211.577.090] synonym: "abnormal amygdaloid area morphology" EXACT [] synonym: "abnormal amygdaloid body morphology" EXACT [] synonym: "abnormal amygdaloid complex morphology" EXACT [] synonym: "abnormal amygdaloid nuclear complex morphology" EXACT [] synonym: "abnormal amygdaloid nuclear group morphology" EXACT [] synonym: "abnormal amygdaloid nucleus morphology" EXACT [] synonym: "amygdala dysplasia" EXACT [] is_a: MP:0004166 ! abnormal limbic system morphology [Term] id: MP:0000819 name: abnormal olfactory bulb morphology alt_id: MP:0000943 def: "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" [ISBN:0-683-40008-8, ISBN:0838580343] synonym: "abnormal olfactory bulb" EXACT [] xref: MA:0000194 is_a: MP:0009944 ! abnormal olfactory lobe morphology [Term] id: MP:0000820 name: abnormal choroid plexus morphology def: "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" [http://medical-dictionary.thefreedictionary.com/plexus, https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8, PMID:9362461] synonym: "choroid plexus dysplasia" EXACT [] is_a: MP:0013306 ! abnormal tela choroidea morphology [Term] id: MP:0000821 name: choroid plexus hyperplasia def: "increase in the number of normal cells in normal arrangement in the choroid plexus, typically resulting in increased size" [http://medical-dictionary.thefreedictionary.com/plexus, https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:9753320] synonym: "hyperplastic choroid plexus" EXACT [] is_a: MP:0000820 ! abnormal choroid plexus morphology [Term] id: MP:0000822 name: abnormal brain ventricle morphology def: "any structural anomaly of the system of four communicating cavities within the brain that are continuous with the central canal of the spinal cord" [ISBN:0-683-40008-8] synonym: "abnormal cerebral ventricle morphology" EXACT [] synonym: "abnormal ventricle" BROAD [] synonym: "brain ventricle dysplasia" EXACT [] is_a: MP:0002200 ! abnormal brain ventricular system morphology [Term] id: MP:0000823 name: abnormal lateral ventricle morphology def: "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" [MESH:A08.186.211.276.650, MGI:cwg] synonym: "abnormal lateral ventricles" BROAD [] synonym: "abnormal ventricle of cerebral hemisphere morphology" EXACT [] synonym: "abnormal ventriculus lateralis morphology" EXACT [] synonym: "lateral ventricle dysplasia" EXACT [] is_a: MP:0000787 ! abnormal telencephalon morphology is_a: MP:0000822 ! abnormal brain ventricle morphology [Term] id: MP:0000825 name: dilated lateral ventricle alt_id: MP:0000824 def: "the luminal space of one or both lateral ventricles is increased in volume or area, usually with an increase in contained fluid" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, MESH:A08.186.211.276.650, PMID:9010203] synonym: "dilated lateral ventricles" EXACT [] synonym: "dilated telencephalic ventricle" EXACT [] synonym: "dilated telencephalic ventricles" EXACT [] synonym: "dilated ventricle of cerebral hemisphere" EXACT [] synonym: "dilated ventriculus lateralis" EXACT [] synonym: "lateral ventricle dilation" EXACT [] synonym: "telencephalic ventricle dilation" EXACT [] synonym: "ventriculus lateralis dilation" EXACT [] is_a: MP:0000823 ! abnormal lateral ventricle morphology is_a: MP:0012676 ! dilated brain ventricle [Term] id: MP:0000826 name: abnormal third ventricle morphology def: "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" [MESH:A08.186.211.276.840, MGI:cwg] synonym: "abnormal 3rd ventricle morphology" EXACT [] synonym: "abnormal ventriculus tertius morphology" EXACT [] synonym: "third ventricle dysplasia" EXACT [] is_a: MP:0000822 ! abnormal brain ventricle morphology is_a: MP:0000830 ! abnormal diencephalon morphology [Term] id: MP:0000827 name: dilated third ventricle def: "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" [MESH:A08.186.211.276.840, MGI:cwg] synonym: "3rd ventricle dilation" EXACT [] synonym: "dilated 3rd ventricle" EXACT [] synonym: "dilated third ventricles" EXACT [] synonym: "dilated ventricle of diencephalon" EXACT [] synonym: "dilated ventriculus tertius" EXACT [] synonym: "third ventricle dilation" RELATED [] synonym: "ventriculus tertius dilation" EXACT [] is_a: MP:0000826 ! abnormal third ventricle morphology is_a: MP:0012676 ! dilated brain ventricle [Term] id: MP:0000828 name: abnormal fourth ventricle morphology def: "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" [MESH:A08.186.211.276.500, MGI:cwg] synonym: "abnormal 4th ventricle morphology" EXACT [] synonym: "abnormal IVth ventricle morphology" EXACT [] synonym: "abnormal rhombencephalic ventricle morphology" EXACT [] synonym: "abnormal ventricle of rhombencephalon morphology" EXACT [] synonym: "abnormal ventriculus quartus morphology" EXACT [] synonym: "fourth ventricle dysplasia" EXACT [] is_a: MP:0000822 ! abnormal brain ventricle morphology is_a: MP:0000841 ! abnormal hindbrain morphology [Term] id: MP:0000829 name: dilated fourth ventricle def: "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" [MESH:A08.186.211.276.500, MGI:cwg] synonym: "4th ventricle dilation" EXACT [] synonym: "dilated 4th ventricle" EXACT [] synonym: "dilated 4th ventricles" EXACT [] synonym: "dilated fourth ventricles" EXACT [] synonym: "dilated IVth ventricle" EXACT [] synonym: "dilated IVth ventricles" EXACT [] synonym: "dilated rhombencephalic ventricle" EXACT [] synonym: "dilated rhombencephalic ventricles" EXACT [] synonym: "dilated ventricle of rhombencephalon" EXACT [] synonym: "dilated ventriculus quartus" EXACT [] synonym: "fourth ventricle dilation" EXACT [] synonym: "IVth ventricle dilation" EXACT [] synonym: "rhombencephalic ventricle dilation" EXACT [] synonym: "ventriculus quartus dilation" EXACT [] is_a: MP:0000828 ! abnormal fourth ventricle morphology is_a: MP:0012676 ! dilated brain ventricle [Term] id: MP:0000830 name: abnormal diencephalon morphology def: "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" [ISBN:0838580343, MESH:A08.186.211.730.317] synonym: "abnormal betweenbrain morphology" EXACT [] synonym: "abnormal interbrain morphology" EXACT [] synonym: "abnormal thalamencephalon morphology" EXACT [] synonym: "diencephalon dysplasia" EXACT [] is_a: MP:0000783 ! abnormal forebrain morphology [Term] id: MP:0000831 name: diencephalon hyperplasia def: "increase in the number of normal cells in normal arrangement in the diencephalon, typically resulting in increased size" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "betweenbrain hyperplasia" EXACT [] synonym: "hyperplastic diencephalon" EXACT [] synonym: "interbrain hyperplasia" RELATED [] synonym: "thalamencephalon hyperplasia" EXACT [] is_a: MP:0000830 ! abnormal diencephalon morphology [Term] id: MP:0000832 name: abnormal thalamus morphology def: "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" [ISBN:0-683-40008-8, MESH:A08.186.211.730.317.826] synonym: "thalamus dysplasia" EXACT [] is_a: MP:0000830 ! abnormal diencephalon morphology [Term] id: MP:0000833 name: thalamus hyperplasia def: "increase in the number of normal cells in normal arrangement in the thalamus, typically resulting in increased size" [ISBN:0-683-40008-8] synonym: "hyperplastic thalamus" EXACT [] is_a: MP:0020526 ! enlarged thalamus [Term] id: MP:0000834 name: abnormal subthalamus morphology def: "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" [ISBN:0-683-40008-8, MESH:A08.186.211.730.317.800] synonym: "abnormal ventral thalamus" EXACT [] synonym: "subthalamus dysplasia" EXACT [] synonym: "ventral thalamus dysplasia" EXACT [] is_a: MP:0000830 ! abnormal diencephalon morphology [Term] id: MP:0000835 name: abnormal subthalamic nucleus morphology def: "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" [ISBN:0-683-40008-8, MESH:A08.186.211.730.317.800.800] synonym: "abnormal corpus luysi morphology" EXACT [] synonym: "subthalamic nucleus dysplasia" EXACT [] is_a: MP:0000834 ! abnormal subthalamus morphology is_a: MP:0006007 ! abnormal basal ganglion morphology [Term] id: MP:0000836 name: abnormal substantia nigra morphology def: "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)" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal locus niger morphology" EXACT [] synonym: "abnormal nucleus niger morphology" EXACT [] synonym: "substantia nigra dysplasia" EXACT [] is_a: MP:0000897 ! abnormal midbrain morphology is_a: MP:0006007 ! abnormal basal ganglion morphology [Term] id: MP:0000837 name: abnormal hypothalamus morphology def: "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" [MESH:A08.186.211.464.482] synonym: "hypothalamus dysplasia" EXACT [] is_a: MP:0000830 ! abnormal diencephalon morphology is_a: MP:0004166 ! abnormal limbic system morphology [Term] id: MP:0000838 name: obsolete abnormal pituitary afferents def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000839 name: hypothalamus hyperplasia def: "increase in the number of normal cells in normal arrangement in the hypothalamus, typically resulting in increased size" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:9753320] synonym: "hyperplastic hypothalamus" EXACT [] is_a: MP:0000837 ! abnormal hypothalamus morphology [Term] id: MP:0000840 name: abnormal epithalamus morphology def: "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" [ISBN:0-683-40008-8, MESH:A08.186.211.464.200] synonym: "epithalamus dysplasia" EXACT [] is_a: MP:0000830 ! abnormal diencephalon morphology [Term] id: MP:0000841 name: abnormal hindbrain morphology def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "abnormal rhombencephalon morphology" RELATED [] synonym: "hindbrain dysplasia" EXACT [] is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0000842 name: absent superior olivary complex def: "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" [ISBN:0-683-40008-8, PMID:1346922] is_a: MP:0000848 ! abnormal pons morphology [Term] id: MP:0000843 name: absent facial nuclei def: "missing nucleus of neurons in the hindbrain; receives fibers from the facial muscles, stapedus muscle and stylohyoid muscle" [ISBN:0-683-40008-8, PMID:1346922] is_a: MP:0000909 ! abnormal facial motor nucleus morphology [Term] id: MP:0000844 name: abnormal pontine flexure morphology def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "abnormal (embryonic) hindbrain flexure morphology" EXACT [] synonym: "abnormal basicranial flexure morphology" EXACT [] synonym: "abnormal pontal flexure morphology" EXACT [] synonym: "abnormal transverse rhombencephalic flexure morphology" EXACT [] is_a: MP:0000841 ! abnormal hindbrain morphology is_a: MP:0006108 ! abnormal hindbrain development [Term] id: MP:0000846 name: abnormal medulla oblongata morphology alt_id: MP:0000845 def: "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" [ISBN:0838580343] synonym: "abnormal myelencephalon morphology" EXACT [] synonym: "medulla oblongata dysplasia" EXACT [] synonym: "myelencephalon dysplasia" EXACT [] is_a: MP:0000841 ! abnormal hindbrain morphology is_a: MP:0005277 ! abnormal brainstem morphology [Term] id: MP:0000847 name: abnormal metencephalon morphology def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "abnormal anterior hindbrain morphology" EXACT [] synonym: "abnormal anterior rhombencephalon morphology" EXACT [] synonym: "abnormal epencephalon morphology" EXACT [] synonym: "abnormal rostral hindbrain morphology" EXACT [] synonym: "abnormal rostral rhombencephalon morphology" EXACT [] synonym: "metencephalon dysplasia" EXACT [] is_a: MP:0000841 ! abnormal hindbrain morphology [Term] id: MP:0000848 name: abnormal pons morphology def: "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" [ISBN:0-683-40008-8, ISBN:0838580343, PMID:1346922] synonym: "abnormal pons Varolii morphology" EXACT [] synonym: "pons dysplasia" EXACT [] is_a: MP:0000847 ! abnormal metencephalon morphology is_a: MP:0005277 ! abnormal brainstem morphology [Term] id: MP:0000849 name: abnormal cerebellum morphology def: "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" [ISBN:0838580343, PMID:9778510] synonym: "cerebellar dysplasia" EXACT [] synonym: "cerebellum dysplasia" EXACT [] is_a: MP:0000847 ! abnormal metencephalon morphology [Term] id: MP:0000850 name: absent cerebellum def: "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" [ISBN:0-683-40008-8, PMID:7925010] synonym: "absence of cerebellum" EXACT [] is_a: MP:0000849 ! abnormal cerebellum morphology [Term] id: MP:0000851 name: cerebellum hypoplasia def: "decrease in the number of normal cells in normal arrangement in the cerebellum, typically resulting in decreased size" [https://orcid.org/0000-0003-3691-0324, PMID:9362461] synonym: "cerebellar hypoplasia" EXACT [] synonym: "hypoplastic cerebellum" EXACT [] synonym: "reduced cerebellum cellularity" EXACT [] is_a: MP:0000852 ! small cerebellum [Term] id: MP:0000852 name: small cerebellum def: "reduced size of cerebellum" [https://orcid.org/0000-0003-3691-0324] synonym: "decreased cerebellum size" EXACT [] synonym: "reduced cerebellum size" EXACT [] is_a: MP:0000849 ! abnormal cerebellum morphology [Term] id: MP:0000853 name: absent cerebellar foliation def: "missing small branches of the cerebellar lobules" [ISBN:0838580343, MGI:tc, PMID:10716451] synonym: "absence of cerebellum foliation" EXACT [] synonym: "lack of cerebellar foliation" EXACT [] synonym: "lack of cerebellum foliation" EXACT [] synonym: "loss of cerebellar foliation" EXACT [] synonym: "loss of cerebellum foliation" EXACT [] is_a: MP:0000857 ! abnormal cerebellar foliation [Term] id: MP:0000854 name: abnormal cerebellum development def: "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" [ISBN:0-683-40008-8] synonym: "abnormal cerebellar development" EXACT [] is_a: MP:0000849 ! abnormal cerebellum morphology is_a: MP:0006108 ! abnormal hindbrain development [Term] id: MP:0000855 name: accelerated formation of intralobular fissures def: "formation of the major fissures of the cerebellum earlier in development than normal" [J:56546] is_a: MP:0000854 ! abnormal cerebellum development [Term] id: MP:0000856 name: abnormal cerebellar plate morphology def: "any structural anomaly of the embryonic pseudostratified epithelium of the fourth cerebellar ventricle that eventually forms the vermis and ventral neuroepithelium" [PMID:9362461] synonym: "cerebellar plate dysplasia" EXACT [] is_a: MP:0000854 ! abnormal cerebellum development [Term] id: MP:0000857 name: abnormal cerebellar foliation def: "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" [ISBN:0838580343, PMID:17506688] is_a: MP:0000854 ! abnormal cerebellum development is_a: MP:0009964 ! abnormal cerebellum lobule morphology [Term] id: MP:0000858 name: abnormal metastatic potential def: "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" [https://orcid.org/0000-0002-6490-7723, https://orcid.org/0000-0003-3691-0324] synonym: "alteration in metastasis potential" EXACT [] synonym: "altered metastatic potential" EXACT [] synonym: "change in metastasis potential" EXACT [] synonym: "change in potential to develop metastases" EXACT [] is_a: MP:0010639 ! abnormal tumor pathology [Term] id: MP:0000859 name: abnormal somatosensory cortex morphology def: "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" [ISBN:0-683-40008-8, MESH:A08.186.211.730.885.287.500.670.675] synonym: "abnormal somatic sensory cortex morphology" EXACT [] synonym: "abnormal somesthetic area morphology" EXACT [] synonym: "somatosensory cortex dysplasia" EXACT [] is_a: MP:0000788 ! abnormal cerebral cortex morphology is_a: MP:0000794 ! abnormal parietal lobe morphology [Term] id: MP:0000860 name: abnormal primary somatosensory cortex morphology def: "any structural anomaly of the area of the postcentral gyrus and central sulcus that is involved in somatic sensation" [ISBN:0838580343] synonym: "abnormal primary somatic sensory cortex morphology" EXACT [] is_a: MP:0000859 ! abnormal somatosensory cortex morphology [Term] id: MP:0000861 name: disorganized barrel cortex def: "derangement of the pattern of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae" [ISBN:0838580343, J:64064] synonym: "disorganised barrel cortex" EXACT [] is_a: MP:0003989 ! abnormal barrel cortex morphology [Term] id: MP:0000862 name: absent barrels in primary somatosensory cortex def: "missing pattern of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae" [ISBN:0838580343] synonym: "absence of barrels in primary somatosensory cortex" EXACT [] is_a: MP:0003989 ! abnormal barrel cortex morphology [Term] id: MP:0000863 name: abnormal secondary somatosensory cortex morphology def: "any structural anomaly of the area of the upper bank of the lateral sulcus that is involved in somatic sensation" [ISBN:0838580343] synonym: "abnormal secondary somatic sensory cortex morphology" EXACT [] is_a: MP:0000859 ! abnormal somatosensory cortex morphology [Term] id: MP:0000864 name: abnormal cerebellum vermis morphology def: "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" [ISBN:0-683-40008-8, ISBN:0838580343, NLX:birnlex_1106, PMID:10742104] synonym: "abnormal cerebellar vermis morphology" EXACT [] synonym: "abnormal spinocerebellum morphology vermis part" EXACT [] synonym: "abnormal vermis morphology" EXACT [] synonym: "cerebellum vermis dysplasia" EXACT [] xref: MA:0000202 is_a: MP:0004097 ! abnormal cerebellar cortex morphology [Term] id: MP:0000865 name: absent cerebellum vermis def: "missing narrow middle zone between the two hemispheres of the cerebellum" [ISBN:0-683-40008-8, PMID:9362461] synonym: "absent spinocerebellum morphology vermis part" RELATED [] synonym: "absent vermis" RELATED [] is_a: MP:0000864 ! abnormal cerebellum vermis morphology [Term] id: MP:0000866 name: cerebellum vermis hypoplasia def: "decrease in the number of normal cells in normal arrangement in the cerebellum vermis, typically resulting in decreased size" [PMID:10742104] synonym: "cerebellar vermal hypoplasia" EXACT [] synonym: "cerebellar vermis hypoplasia" EXACT [] synonym: "hypoplastic cerebellar vermis" EXACT [] synonym: "hypoplastic cerebellum vermis" EXACT [] synonym: "hypoplastic vermis" EXACT [] synonym: "vermis hypoplasia" EXACT [] is_a: MP:0000864 ! abnormal cerebellum vermis morphology [Term] id: MP:0000867 name: abnormal cerebellum anterior vermis morphology def: "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" [ISBN:0-683-40008-8] synonym: "abnormal anterior vermis morphology" EXACT [] synonym: "abnormal rostral vermis morphology" EXACT [] synonym: "cerebellum anterior vermis dysplasia" EXACT [] is_a: MP:0000864 ! abnormal cerebellum vermis morphology is_a: MP:0009960 ! abnormal cerebellum anterior lobe morphology [Term] id: MP:0000868 name: decreased anterior vermis size def: "smaller appearance of the narrow middle zone between the two hemispheres of the anterior lobe of the cerebellum" [ISBN:0-683-40008-8] synonym: "decreased size of anterior vermis" EXACT [] synonym: "reduced anterior vermis size" EXACT [] synonym: "small anterior vermis" EXACT [] is_a: MP:0000867 ! abnormal cerebellum anterior vermis morphology [Term] id: MP:0000869 name: abnormal cerebellum posterior vermis morphology def: "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" [ISBN:0-683-40008-8, PMID:10742104] synonym: "abnormal caudal vermis morphology" EXACT [] synonym: "abnormal inferior vermis morphology" EXACT [] synonym: "abnormal posterior vermis morphology" EXACT [] synonym: "cerebellum posterior vermis dysplasia" EXACT [] is_a: MP:0000864 ! abnormal cerebellum vermis morphology is_a: MP:0009962 ! abnormal cerebellum posterior lobe morphology [Term] id: MP:0000870 name: absent cerebellum vermis lobule VIII def: "missing part of the inferior vermis of the cerebellum (vermis lobule VIII)" [ISBN:0-683-40008-8, PMID:10742104] synonym: "absence of vermal pyramis" EXACT [] synonym: "absent cerebellar pyramid" EXACT [] synonym: "absent pyramid of vermis" EXACT [] synonym: "absent pyramis of cerebellum" EXACT [] synonym: "absent vermal pyramis" EXACT [] is_a: MP:0009996 ! abnormal cerebellum vermis lobule VIII morphology [Term] id: MP:0000871 name: absent cerebellum vermis lobule IX def: "missing triangular elevation on the vermis of the cerebellum" [ISBN:0-683-40008-8, PMID:10742104] synonym: "absence of vermal uvula" EXACT [] synonym: "absent vermal uvula" EXACT [] is_a: MP:0009992 ! abnormal cerebellum vermis lobule IX morphology [Term] id: MP:0000872 name: abnormal cerebellum external granule cell layer morphology def: "any structural anomaly of the transient layer of the cerebellar cortex present during development which is composed of the dividing and migrating granule cells" [MGI:tc] synonym: "abnormal EGL" BROAD [] synonym: "abnormal external germinal layer morphology" EXACT [] synonym: "abnormal external granule cell layer morphology" BROAD [] synonym: "abnormal external granule layer morphology" EXACT [] is_a: MP:0000854 ! abnormal cerebellum development [Term] id: MP:0000873 name: thin external granule cell layer def: "reduced thickness of the transient layer of the cerebellar cortex present during development which is composed of dividing and migrating granule cells" [MGI:tc, PMID:10716451] synonym: "thin EGL" EXACT [] synonym: "thin external germinal layer" EXACT [] synonym: "thin external granule layer" EXACT [] is_a: MP:0000872 ! abnormal cerebellum external granule cell layer morphology [Term] id: MP:0000874 name: irregular external granule cell layer thickness def: "uneven thickness of the transient layer of the cerebellar cortex present during development which is composed of dividing and migrating granule cells" [MGI:tc] synonym: "irregular EGL" EXACT [] synonym: "irregular external germinal layer" EXACT [] synonym: "irregular external granule layer" EXACT [] is_a: MP:0000872 ! abnormal cerebellum external granule cell layer morphology [Term] id: MP:0000875 name: abnormal cerebellar Purkinje cell layer def: "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" [ISBN:0-683-40008-8] synonym: "abnormal Purkinje cell layer" EXACT [] is_a: MP:0009956 ! abnormal cerebellar layer morphology [Term] id: MP:0000876 name: Purkinje cell degeneration def: "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" [J:46854] is_a: MP:0000877 ! abnormal Purkinje cell morphology is_a: MP:0003224 ! neuron degeneration [Term] id: MP:0000877 name: abnormal Purkinje cell morphology def: "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" [ISBN:0838580343] synonym: "abnormal Purkinje cells" BROAD [] synonym: "abnormal Purkinje neuron morphology" EXACT [] is_a: MP:0000875 ! abnormal cerebellar Purkinje cell layer is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0000878 name: abnormal Purkinje cell number def: "different from average number of neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [ISBN:0-683-40008-8] is_a: MP:0000877 ! abnormal Purkinje cell morphology [Term] id: MP:0000879 name: increased Purkinje cell number alt_id: MP:0000325 def: "greater than normal number of neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0000878 ! abnormal Purkinje cell number is_a: MP:0008947 ! increased neuron number [Term] id: MP:0000880 name: decreased Purkinje cell number alt_id: MP:0000337 def: "fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [ISBN:0-683-40008-8, PMID:9362461] synonym: "reduced Purkinje cell number" EXACT [] is_a: MP:0000878 ! abnormal Purkinje cell number is_a: MP:0008948 ! decreased neuron number [Term] id: MP:0000881 name: obsolete Abnormal Purkinje Cell Size def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000882 name: obsolete Increased Purkinje Cell Size dup. def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000883 name: obsolete Decreased Purkinje Cell Size dup. def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000884 name: delaminated Purkinje cell layer def: "splitting or disorganization of the layer of large neuron cell bodies between the molecular and granular layers of the cerebellum" [ISBN:0-683-40008-8, PMID:10742104] is_a: MP:0000875 ! abnormal cerebellar Purkinje cell layer [Term] id: MP:0000885 name: ectopic Purkinje cell def: "Purkinje cell body resides in places other than the Purkinje cell layer in the cerebellum" [MGI:tc, PMID:10716451] synonym: "heterotopic Purkinje cell" EXACT [] is_a: MP:0000877 ! abnormal Purkinje cell morphology is_a: MP:0011723 ! ectopic neuron [Term] id: MP:0000886 name: abnormal cerebellar granule layer morphology def: "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" [ISBN:0-683-40008-8, ISBN:0838580343] subset: IMPC subset: Sanger_Terms synonym: "abnormal granule layer morphology" EXACT [] synonym: "abnormal IGL" BROAD [] synonym: "abnormal internal granule cell layer morphology" EXACT [] synonym: "abnormal internal granule layer morphology" EXACT [] is_a: MP:0009956 ! abnormal cerebellar layer morphology [Term] id: MP:0000887 name: delaminated cerebellar granule layer def: "splitting or disorganization of the deepest of the three layers of the cerebellum that contains granule cells" [ISBN:0-683-40008-8, PMID:10742104] synonym: "delaminated IGL" EXACT [] synonym: "delaminated internal granule layer" EXACT [] is_a: MP:0000886 ! abnormal cerebellar granule layer morphology [Term] id: MP:0000888 name: absent cerebellar granule layer def: "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" [ISBN:0-683-40008-8, ISBN:0838580343] subset: IMPC subset: Sanger_Terms synonym: "absent IGL" EXACT [] synonym: "absent internal granule layer" EXACT [] is_a: MP:0000886 ! abnormal cerebellar granule layer morphology [Term] id: MP:0000889 name: abnormal cerebellar molecular layer def: "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" [ISBN:0-683-40008-8, PMID:9010203] synonym: "abnormal molecular layer" EXACT [] is_a: MP:0009956 ! abnormal cerebellar layer morphology [Term] id: MP:0000890 name: thin cerebellar molecular layer def: "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" [ISBN:0-683-40008-8, PMID:9010203] synonym: "decreased cerebellar molecular layer width" EXACT [] is_a: MP:0000889 ! abnormal cerebellar molecular layer [Term] id: MP:0000891 name: obsolete Abnormal Thickness of Molecular Layer def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000892 name: obsolete Increased Thickness of Molecular Layer def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000893 name: obsolete Decreased Thickness of Molecular Layer def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000894 name: obsolete Abnormal Cell Number of Molecular Layer def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000895 name: obsolete Increased Cell Number of Molecular Layer def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000896 name: obsolete Decreased Cell Number of Molecular Layer def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0000897 name: abnormal midbrain morphology def: "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" [ISBN:0838580343] synonym: "abnormal mesencephalon morphology" EXACT [] synonym: "mesencephalon dysplasia" EXACT [] synonym: "midbrain dysplasia" EXACT [] is_a: MP:0005277 ! abnormal brainstem morphology [Term] id: MP:0000898 name: midbrain hyperplasia def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "hyperplastic midbrain" EXACT [] synonym: "mesencephalon hyperplasia" EXACT [] is_a: MP:0012091 ! increased midbrain size [Term] id: MP:0000899 name: abnormal corpora quadrigemina morphology def: "any structural anomaly of the inferior and superior colliculus" [PMID:9778510] synonym: "abnormal colliculi morphology" EXACT [] synonym: "abnormal colliculus morphology" RELATED [] synonym: "abnormal quadrigeminal body morphology" EXACT [] synonym: "corpora quadrigemina dysplasia" EXACT [] is_a: MP:0006104 ! abnormal tectum morphology [Term] id: MP:0000900 name: decreased colliculi size def: "smaller inferior and superior colliculus" [ISBN:0-683-40008-8, PMID:7925010] synonym: "decreased size of colliculi" EXACT [] synonym: "reduced colliculi size" EXACT [] synonym: "reduced size of colliculi" EXACT [] is_a: MP:0000899 ! abnormal corpora quadrigemina morphology [Term] id: MP:0000901 name: abnormal position of colliculi def: "positional abnormality of the inferior and superior colliculus" [J:57538] synonym: "altered position of colliculi" EXACT [] is_a: MP:0000899 ! abnormal corpora quadrigemina morphology [Term] id: MP:0000904 name: abnormal superior colliculus morphology def: "any structural anomaly of the paired superior eminence of the mesencephalic tectum that is involved in auditory processing" [ISBN:0-683-40008-8] synonym: "abnormal anterior quadrigeminal body morphology" EXACT [] synonym: "abnormal corpora quadrigeminum posterius anterius morphology" EXACT [] is_a: MP:0000899 ! abnormal corpora quadrigemina morphology [Term] id: MP:0000905 name: increased superior colliculus size def: "enlargement of the paired superior eminence of the mesencephalic tectum" [ISBN:0-683-40008-8, J:57538] synonym: "increased anterior quadrigeminal body size" EXACT [] synonym: "increased corpora quadrigeminum posterius anterius size" EXACT [] synonym: "increased size of superior colliculus" EXACT [] is_a: MP:0000904 ! abnormal superior colliculus morphology [Term] id: MP:0000906 name: abnormal trigeminal V mesencephalic nucleus morphology def: "any structural anomaly of the group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve" [ISBN:0-683-40008-8] synonym: "abnormal mesencephalic trigeminal nucleus morphology" EXACT [] xref: MA:0001057 is_a: MP:0000897 ! abnormal midbrain morphology [Term] id: MP:0000907 name: small mesencephalic trigeminal nucleus def: "reduced size of the group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] is_a: MP:0000906 ! abnormal trigeminal V mesencephalic nucleus morphology [Term] id: MP:0000908 name: absent mesencephalic trigeminal nucleus def: "missing group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve" [ISBN:0-683-40008-8, PMID:7958926] is_a: MP:0000906 ! abnormal trigeminal V mesencephalic nucleus morphology [Term] id: MP:0000909 name: abnormal facial motor nucleus morphology def: "any structural anomaly of the group of motor neurons residing in the pons that innervate the muscles of facial expression" [ISBN:0838580343] synonym: "abnormal motor nucleus, facial" EXACT [] is_a: MP:0000848 ! abnormal pons morphology [Term] id: MP:0000910 name: small facial motor nucleus def: "reduced size of the group of motor neurons residing in the pons that innervate the muscles of facial expression" [ISBN:0838580343, J:56847] synonym: "decreased facial motor nucleus size" EXACT [] synonym: "small motor nucleus, facial" EXACT [] is_a: MP:0000909 ! abnormal facial motor nucleus morphology [Term] id: MP:0000911 name: abnormal trigeminal motor nucleus morphology def: "any structural anomaly of the group of motor neurons innervating the muscles of mastication" [ISBN:0-683-40008-8] synonym: "abnormal motor nucleus, trigeminal morphology" EXACT [] is_a: MP:0000848 ! abnormal pons morphology [Term] id: MP:0000912 name: small trigeminal motor nucleus def: "reduced size of the group of motor neurons innervating the muscles of mastication" [ISBN:0-683-40008-8, J:18984] synonym: "decreased trigeminal motor nucleus size" EXACT [] synonym: "small motor nucleus, trigeminal" EXACT [] is_a: MP:0000911 ! abnormal trigeminal motor nucleus morphology [Term] id: MP:0000913 name: abnormal brain development alt_id: MP:0001888 def: "aberrant or incomplete differentiation of the brain" [https://orcid.org/0000-0003-3691-0324, PMID:9753320] subset: IMPC_Prenatal synonym: "brain development abnormalities" EXACT [] xref: GO:0007420 is_a: MP:0002152 ! abnormal brain morphology is_a: MP:0003861 ! abnormal nervous system development [Term] id: MP:0000914 name: exencephaly def: "neurocranial defects resulting in exposure or extrusion of the brain" [ISBN:0-683-40008-8, PMID:9753320] subset: IMPC_Prenatal subset: Sanger_Terms synonym: "cranial hernia" EXACT [] synonym: "exencephalia" EXACT [] is_a: MP:0003861 ! abnormal nervous system development [Term] id: MP:0000917 name: obstructive hydrocephaly alt_id: MP:0001892 def: "hydrocephaly due to a block in cerebrospinal fluid flow in the ventricular system" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "non-communicating hydrocephalus" EXACT [] synonym: "non-communicating hydrocephaly" EXACT [] synonym: "noncommunicating hydrocephalus" EXACT [] synonym: "noncommunicating hydrocephaly" EXACT [] synonym: "obstructive hydrocephalus" EXACT [] is_a: MP:0001891 ! hydrocephaly [Term] id: MP:0000919 name: cranioschisis def: "incomplete closure of the skull, usually congenital" [ISBN:0-683-40008-8] is_a: MP:0000438 ! abnormal cranium morphology [Term] id: MP:0000920 name: abnormal myelination alt_id: MP:0001894 alt_id: MP:0010051 def: "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" [GO:0042552, https://orcid.org/0000-0003-3691-0324] synonym: "absence of myelination" NARROW [] synonym: "absent myelination" NARROW [] synonym: "altered myelination" EXACT [] synonym: "myelination abnormalities" EXACT [] synonym: "myelination defect" EXACT [] xref: GO:0042552 is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0000921 name: demyelination alt_id: MP:0010049 def: "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" [https://orcid.org/0000-0003-3691-0324] comment: Demyelination is a term used to describe the destruction of the myelin sheath that surrounds axonal fibres. This is caused by diseases that damage the myelin sheath or the cells that form it. synonym: "myelin degeneration" EXACT [] synonym: "myelin destruction" EXACT [] is_a: MP:0000920 ! abnormal myelination [Term] id: MP:0000923 name: abnormal roof plate morphology def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "roof plate abnormalities" BROAD [] synonym: "roof plate dysplasia" EXACT [] is_a: MP:0002151 ! abnormal neural tube morphology [Term] id: MP:0000924 name: absent roof plate def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "absence of roof plate" EXACT [] is_a: MP:0000923 ! abnormal roof plate morphology [Term] id: MP:0000925 name: abnormal floor plate morphology def: "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" [UBERON:0003079] synonym: "abnormal floorplate morphology" EXACT [] synonym: "floor plate abnormalities" BROAD [] synonym: "floor plate dysplasia" EXACT [] is_a: MP:0002151 ! abnormal neural tube morphology [Term] id: MP:0000926 name: absent floor plate def: "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" [UBERON:0003079] synonym: "absent floorplate" EXACT [] is_a: MP:0000925 ! abnormal floor plate morphology [Term] id: MP:0000927 name: small floor plate def: "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" [UBERON:0003079] synonym: "decreased floor plate size" EXACT [] synonym: "reduced floor plate size" EXACT [] synonym: "small floorplate" EXACT [] is_a: MP:0000925 ! abnormal floor plate morphology [Term] id: MP:0000928 name: incomplete rostral neuropore closure def: "arrest of the fusion of the cephalic neural folds" [https://orcid.org/0000-0002-6490-7723] comment: Head fold is properly used to describe the rostrally located, crescent shaped fold of the embryonic disc around the future foregut. However, it is often (and incorrectly) used as a synonym for the ventrally located cephalic neural folds. Take care to select the correct term. synonym: "incomplete anterior cephalic closure" EXACT [] synonym: "incomplete cephalic closure" EXACT [] synonym: "incomplete cranial neural fold fusion" EXACT [] synonym: "incomplete head fold fusion" BROAD [] synonym: "incomplete headfold fusion" RELATED [] synonym: "incomplete rostral neural tube closure" RELATED [] synonym: "open anterior neuropore" EXACT [] is_a: MP:0003720 ! abnormal neural tube closure is_a: MP:0012543 ! abnormal rostral neuropore morphology [Term] id: MP:0000929 name: open neural tube alt_id: MP:0000931 alt_id: MP:0005436 def: "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" [https://orcid.org/0000-0003-3691-0324, J:62571, PMID:9949198] synonym: "failure of neural tube closure" EXACT [] synonym: "hydrocele spinalis" EXACT [] synonym: "schistorrhachis" EXACT [] synonym: "spina bifida" BROAD [] is_a: MP:0003720 ! abnormal neural tube closure [Term] id: MP:0000930 name: wavy neural tube def: "undulations in the embryonic neural tube" [J:37888] is_a: MP:0002151 ! abnormal neural tube morphology [Term] id: MP:0000932 name: absent notochord def: "missing axial fibrocellular cord in embryos around which develops the vertebral primordia" [ISBN:0-683-40008-8] synonym: "absence of notochord" EXACT [] is_a: MP:0002825 ! abnormal notochord morphology [Term] id: MP:0000933 name: abnormal rhombomere morphology def: "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" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8, PMID:1346922, UBERON:0001892] synonym: "abnormal rhombomeres" BROAD [] synonym: "rhombomere dysplasia" EXACT [] is_a: MP:0003208 ! abnormal neuromere morphology is_a: MP:0006108 ! abnormal hindbrain development [Term] id: MP:0000934 name: abnormal telencephalon development def: "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" [https://orcid.org/0000-0002-6490-7723] is_a: MP:0000787 ! abnormal telencephalon morphology is_a: MP:0003232 ! abnormal forebrain development [Term] id: MP:0000935 name: abnormal folding of telencephalic vesicles def: "malformation of the stereotypic invaginations forming the paired diverticula of the telencephalon" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:9753320] is_a: MP:0000934 ! abnormal telencephalon development [Term] id: MP:0000936 name: small embryonic telencephalon def: "reduced size of the paired diverticula of the embryonic telencephalon, from which the forebrain develops" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:9753320] synonym: "small telencephalic vesicles" EXACT [] is_a: MP:0000934 ! abnormal telencephalon development [Term] id: MP:0000937 name: abnormal motor neuron morphology def: "any structural anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal motoneuron morphology" EXACT [] synonym: "abnormal motor neurons" BROAD [] synonym: "motor neuron abnormalities" BROAD [] synonym: "motor neuron dysplasia" EXACT [] is_a: MP:0002882 ! abnormal neuron morphology is_a: MP:0008503 ! abnormal spinal cord grey matter morphology [Term] id: MP:0000938 name: motor neuron degeneration def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "loss of motor neurons" RELATED [] synonym: "motoneuron degeneration" EXACT [] is_a: MP:0000937 ! abnormal motor neuron morphology is_a: MP:0003224 ! neuron degeneration [Term] id: MP:0000939 name: decreased motor neuron number def: "fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "decreased motoneuron number" EXACT [] synonym: "reduced motor neuron number" EXACT [] is_a: MP:0000937 ! abnormal motor neuron morphology is_a: MP:0008948 ! decreased neuron number [Term] id: MP:0000940 name: abnormal motor neuron innervation pattern def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal motoneuron innervation" EXACT [] synonym: "abnormal motor neuron projections" EXACT [] is_a: MP:0000937 ! abnormal motor neuron morphology is_a: MP:0002184 ! abnormal innervation [Term] id: MP:0000941 name: obsolete failure of motor neuron target finding def: "OBSOLETE. failure of an innervating motor neuron to stop at target site and form terminal arbors" [] synonym: "failure of motoneuron target finding" EXACT [] is_obsolete: true consider: MP:0000940 [Term] id: MP:0000942 name: obsolete excessive motor neuron axon growth def: "OBSOLETE. innervating motor neuron projections grow past typical endplate target and extend to myotendenous ends of muscle" [] synonym: "excessive motoneuron axon growth" EXACT [] synonym: "excessive motor neuron growth" EXACT [] is_obsolete: true consider: MP:0000940 [Term] id: MP:0000944 name: obsolete Reduced Olfactory mitral Cells def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0009954 [Term] id: MP:0000947 name: convulsive seizures alt_id: MP:0001494 def: "seizures characterized by uncontrolled motor activity" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: IMPC subset: Sanger_Terms synonym: "convulsions" EXACT [] synonym: "Convulsive" EXACT [] is_a: MP:0002064 ! seizures [Term] id: MP:0000948 name: nonconvulsive seizures alt_id: MP:0001495 def: "seizures without uncontrolled motor activity, but with impairment of consciousness" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "Nonconvulsive" EXACT [] is_a: MP:0002064 ! seizures [Term] id: MP:0000950 name: abnormal seizure response to pharmacological agent alt_id: MP:0001497 def: "anomaly in the seizure activity response that is brought about by treatment with pharmacological agents" [https://orcid.org/0000-0003-3691-0324] synonym: "pharmacologically induced seizures" RELATED [] is_a: MP:0009357 ! abnormal seizure response to inducing agent is_a: MP:0009745 ! abnormal behavioral response to xenobiotic [Term] id: MP:0000951 name: sporadic seizures alt_id: MP:0001498 def: "occasional seizures occurring at irregular intervals" [https://orcid.org/0000-0003-3691-0324] synonym: "spontaneous seizures" EXACT [] is_a: MP:0002064 ! seizures [Term] id: MP:0000952 name: abnormal CNS glial cell morphology def: "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" [MESH:A08.637] synonym: "abnormal CNS glia" BROAD [] synonym: "abnormal CNS glia morphology" EXACT [] synonym: "CNS glia abnormalities" BROAD [] is_a: MP:0003634 ! abnormal glial cell morphology [Term] id: MP:0000953 name: abnormal oligodendrocyte morphology def: "any structural anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS" [MESH:A08.637.600] synonym: "abnormal oligodendrocytes" BROAD [] synonym: "abnormal oligodendroglia" BROAD [] synonym: "abnormal oligodendroglial cell morphology" EXACT [] synonym: "abnormal oligoglia" BROAD [] synonym: "abnormal oligoglial cell morphology" EXACT [] is_a: MP:0000952 ! abnormal CNS glial cell morphology [Term] id: MP:0000954 name: decreased oligodendrocyte progenitor number def: "fewer cells that differentiate into a type of glial cell in the central nervous system" [J:15108] synonym: "decreased oligodendrocyte precursor number" EXACT [] synonym: "reduced oligodendrocyte progenitor number" EXACT [] synonym: "reduced oligodendrocyte progenitor numbers" EXACT [] is_a: MP:0014325 ! abnormal oligodendrocyte progenitor morphology [Term] id: MP:0000955 name: abnormal spinal cord morphology def: "any structural anomaly of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris" [https://orcid.org/0000-0003-3691-0324] synonym: "spinal cord abnormalities" BROAD [] synonym: "spinal cord dysplasia" EXACT [] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0000956 name: decreased spinal cord size def: "smaller appearance of the spinal cord" [PMID:8837770] synonym: "reduced spinal cord size" EXACT [] synonym: "small spinal cord" EXACT [] is_a: MP:0000955 ! abnormal spinal cord morphology [Term] id: MP:0000958 name: peripheral nervous system degeneration def: "a retrogressive impairment of function or destruction of the ganglia and peripheral nerves that lie outside the brain and spinal cord" [https://orcid.org/0000-0003-3691-0324, ISBN:0838580343] synonym: "degeneration of peripheral nervous system" EXACT [] is_a: MP:0002229 ! neurodegeneration [Term] id: MP:0000959 name: abnormal somatic sensory system morphology def: "any structural anomaly of the neural tissue involved in the transmission of sensory signals" [https://orcid.org/0000-0003-3691-0324] synonym: "somatic sensory system abnormalities" BROAD [] synonym: "somatic sensory system dysplasia" EXACT [] is_a: MP:0002752 ! abnormal somatic nervous system morphology [Term] id: MP:0000960 name: abnormal sensory ganglion morphology def: "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" [https://orcid.org/0000-0003-3691-0324, MESH:A08.340.390] synonym: "abnormal sensory ganglia" BROAD [] synonym: "sensory ganglia abnormalities" BROAD [] synonym: "sensory ganglion dysplasia" EXACT [] is_a: MP:0000959 ! abnormal somatic sensory system morphology [Term] id: MP:0000961 name: abnormal dorsal root ganglion morphology alt_id: MP:0001104 def: "any structural anomaly of a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column" [https://orcid.org/0000-0003-3691-0324, MESH:A08.340.390.340] synonym: "abnormal dorsal root ganglia" BROAD [] synonym: "abnormal dorsal root ganglion dysplasia" EXACT [] synonym: "abnormal DRGs" BROAD [] synonym: "abnormal spinal ganglia" BROAD [] synonym: "abnormal spinal ganglion dysplasia" EXACT [] synonym: "abnormal spinal ganglion morphology" EXACT [] synonym: "dorsal root ganglia abnormalities" BROAD [] synonym: "spinal ganglia abnormalities" BROAD [] is_a: MP:0000960 ! abnormal sensory ganglion morphology [Term] id: MP:0000962 name: disorganized dorsal root ganglion def: "loss of segmentation pattern of dorsal root ganglia or loss of regular spacing between the ganglia" [PMID:10804168, PMID:10804169] synonym: "disorganised dorsal root ganglia" EXACT [] synonym: "disorganized DRG" EXACT [] synonym: "disorganized spinal ganglia" EXACT [] is_a: MP:0000961 ! abnormal dorsal root ganglion morphology [Term] id: MP:0000963 name: fused dorsal root ganglion def: "loss of DRG spacing pattern and the appearance of two or more ganglia as one" [PMID:10804168, PMID:10804169] synonym: "dorsal root ganglia fusion" EXACT [] synonym: "fused dorsal root ganglia" EXACT [] synonym: "fused DRG" EXACT [] synonym: "fused spinal ganglia" EXACT [] synonym: "fusion of dorsal root ganglia" EXACT [] is_a: MP:0000961 ! abnormal dorsal root ganglion morphology [Term] id: MP:0000964 name: small dorsal root ganglion def: "reduced size a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column" [MESH:A08.340.390.340] synonym: "decreased dorsal root ganglion size" EXACT [] synonym: "reduced dorsal root ganglion size" EXACT [] synonym: "small DRG" EXACT [] synonym: "small spinal ganglion" EXACT [] is_a: MP:0000961 ! abnormal dorsal root ganglion morphology [Term] id: MP:0000965 name: abnormal sensory neuron morphology def: "any structural anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal sensory neurons" BROAD [] is_a: MP:0000959 ! abnormal somatic sensory system morphology is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0000966 name: decreased sensory neuron number def: "fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "reduced sensory neuron number" EXACT [] is_a: MP:0000965 ! abnormal sensory neuron morphology is_a: MP:0008948 ! decreased neuron number [Term] id: MP:0000968 name: abnormal sensory neuron innervation pattern alt_id: MP:0000967 def: "any changes in the placement, morphology or number of sensory nerve fibers to sensory termini or to spinal cord" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal sensory neuron projections" EXACT [] is_a: MP:0000965 ! abnormal sensory neuron morphology is_a: MP:0002184 ! abnormal innervation [Term] id: MP:0000969 name: abnormal nociceptor morphology def: "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" [MESH:A08.800.550.700.650] synonym: "abnormal nociceptors" BROAD [] is_a: MP:0000965 ! abnormal sensory neuron morphology [Term] id: MP:0000970 name: abnormal polymodal receptor morphology def: "anomaly in a sensory receptor that may be stimulated by mechanical, thermal or chemical means" [ISBN:0838580343] synonym: "abnormal polymodal receptors" BROAD [] is_a: MP:0000965 ! abnormal sensory neuron morphology [Term] id: MP:0000971 name: abnormal thermoreceptor morphology def: "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" [MESH:A08.800.550.700.840] synonym: "abnormal thermal receptors" BROAD [] is_a: MP:0000965 ! abnormal sensory neuron morphology [Term] id: MP:0000972 name: abnormal mechanoreceptor morphology def: "anomaly in the receptors of the body, usually nerve termini, that respond to mechanical pressure or distortion" [ISBN:0-683-40008-8] synonym: "abnormal mechanoreceptors" BROAD [] is_a: MP:0000959 ! abnormal somatic sensory system morphology [Term] id: MP:0000973 name: abnormal cutaneous/subcutaneous mechanoreceptor morphology def: "any structural anomaly of the neuronal receptors that respond to mechanical pressure or distortion in the skin" [ISBN:0-683-40008-8, PMID:21304548] synonym: "abnormal cutaneous/subcutaneous mechanoreceptors" BROAD [] is_a: MP:0000972 ! abnormal mechanoreceptor morphology [Term] id: MP:0000974 name: abnormal hair guard neuron morphology def: "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" [PMID:21304548] synonym: "abnormal G hair neuron morphology" EXACT [] synonym: "abnormal hair guard neurons" BROAD [] is_a: MP:0000973 ! abnormal cutaneous/subcutaneous mechanoreceptor morphology [Term] id: MP:0000975 name: absent hair guard neurons def: "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" [PMID:21304548] synonym: "absent G hair neurons" EXACT [] is_a: MP:0000974 ! abnormal hair guard neuron morphology [Term] id: MP:0000976 name: hyperinnervation of hair guard cells def: "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" [PMID:21304548] synonym: "hyperinnervation of G hair neurons" EXACT [] is_a: MP:0000974 ! abnormal hair guard neuron morphology [Term] id: MP:0000977 name: abnormal hair-tylotrich neuron morphology def: "anomaly of the subcutaneous mechanoreceptors that innervate tylotrich hair follicles" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal hair-tylotrich neurons" BROAD [] is_a: MP:0000973 ! abnormal cutaneous/subcutaneous mechanoreceptor morphology [Term] id: MP:0000978 name: hyperinnervation of hair-tylotrich cells def: "more robust innervation of the hair tylotrich cells" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0000977 ! abnormal hair-tylotrich neuron morphology [Term] id: MP:0000979 name: abnormal hair-down neuron morphology def: "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" [PMID:21304548, PMID:21892923] synonym: "abnormal D-hair neuron morphology" EXACT [] synonym: "abnormal D-hair receptors" BROAD [] synonym: "abnormal hair-down neurons" BROAD [] is_a: MP:0000973 ! abnormal cutaneous/subcutaneous mechanoreceptor morphology [Term] id: MP:0000980 name: absent hair-down neurons def: "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" [PMID:21304548, PMID:21892923] synonym: "loss of hair-down neurons" BROAD [] is_a: MP:0000979 ! abnormal hair-down neuron morphology [Term] id: MP:0000981 name: hyperinnervation of hair-down cells def: "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" [PMID:21892923] is_a: MP:0000979 ! abnormal hair-down neuron morphology [Term] id: MP:0000982 name: abnormal Meissner's corpuscle morphology def: "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" [ISBN:0-683-40008-8, PMID:21304548] synonym: "abnormal oval corpuscle morphology" EXACT [] synonym: "abnormal touch corpuscle morphology" EXACT [] synonym: "Meissner's corpuscle dysplasia" EXACT [] is_a: MP:0000973 ! abnormal cutaneous/subcutaneous mechanoreceptor morphology [Term] id: MP:0000983 name: enlarged Meissner's corpuscles def: "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" [PMID:21304548] synonym: "enlarged oval corpuscle" EXACT [] synonym: "enlarged touch corpuscle" EXACT [] synonym: "increased Meissner's corpuscle size" EXACT [] is_a: MP:0000982 ! abnormal Meissner's corpuscle morphology [Term] id: MP:0000984 name: hyperinnervation of Meissner's corpuscle def: "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" [ISBN:0-683-40008-8, PMID:21304548] is_a: MP:0000982 ! abnormal Meissner's corpuscle morphology [Term] id: MP:0000985 name: abnormal Merkel's receptor morphology def: "any structural anomaly of the modified epidermal cells located in the stratum basale and found mostly in areas where sensory perception is acute" [MESH:A08.800.550.700.500.425] synonym: "abnormal Merkel cells" BROAD [] synonym: "abnormal Merkel receptors" BROAD [] synonym: "Merkel's receptor dysplasia" EXACT [] is_a: MP:0000973 ! abnormal cutaneous/subcutaneous mechanoreceptor morphology [Term] id: MP:0000986 name: increased Merkel's receptor number def: "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" [MESH:A08.800.550.700.500.425] synonym: "increased Merkel cell number" EXACT [] synonym: "increased Merkel receptor number" EXACT [] synonym: "increased numbers of Merkel's receptors" EXACT [] is_a: MP:0000985 ! abnormal Merkel's receptor morphology is_a: MP:0006006 ! increased sensory neuron number [Term] id: MP:0000987 name: hyperinnervation of Merkel's receptor def: "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" [MESH:A08.800.550.700.500.425, MGI:cwg] synonym: "hyperinnervation of Merkel cells" EXACT [] synonym: "hyperinnervation of Merkel receptors" EXACT [] is_a: MP:0000985 ! abnormal Merkel's receptor morphology [Term] id: MP:0000988 name: abnormal pacinian corpuscle morphology def: "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" [MESH:A08.800.550.700.500.700, PMID:21304548] synonym: "abnormal lamellar corpuscle morphology" EXACT [] synonym: "abnormal lamellated corpuscle morphology" EXACT [] synonym: "pacinian corpuscle dysplasia" EXACT [] is_a: MP:0000973 ! abnormal cutaneous/subcutaneous mechanoreceptor morphology [Term] id: MP:0000989 name: abnormal Ruffini's corpuscle morphology def: "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" [ISBN:0-683-40008-8, PMID:21304548] synonym: "Ruffini's corpuscle dysplasia" EXACT [] is_a: MP:0000973 ! abnormal cutaneous/subcutaneous mechanoreceptor morphology [Term] id: MP:0000990 name: abnormal skeletal muscle mechanoreceptor morphology def: "any structural anomaly of the receptors that respond to mechanical pressure or distortion in the skeletal muscle" [ISBN:0-683-40008-8] synonym: "abnormal muscle/skeletal mechanoreceptors" BROAD [] is_a: MP:0000759 ! abnormal skeletal muscle morphology is_a: MP:0000972 ! abnormal mechanoreceptor morphology [Term] id: MP:0000991 name: abnormal primary muscle spindle morphology def: "any structural anomaly of the sensory organ in muscle; involved in the stretch reflex and sensitive to stretch velocity" [ISBN:0838580343] synonym: "abnormal muscle spindle-primary morphology" EXACT [] is_a: MP:0004069 ! abnormal muscle spindle morphology [Term] id: MP:0000992 name: absent primary muscle spindle def: "missing sensory organ in muscle; involved in the stretch reflex and is sensitive to stretch velocity" [ISBN:0838580343] synonym: "absent muscle spindle -primary" EXACT [] is_a: MP:0000991 ! abnormal primary muscle spindle morphology [Term] id: MP:0000993 name: partial loss of primary muscle spindle def: "missing a portion of the sensory organ in muscle; involved in the stretch reflex and is sensitive to stretch velocity" [ISBN:0838580343] synonym: "partial loss of muscle spindle-primary" EXACT [] is_a: MP:0000991 ! abnormal primary muscle spindle morphology [Term] id: MP:0000994 name: abnormal secondary muscle spindle morphology def: "any structural anomaly of the sensory organ in muscle; involved in the stretch reflex and not sensitive to stretch velocity" [ISBN:0838580343] synonym: "abnormal muscle spindle-secondary" EXACT [] is_a: MP:0004069 ! abnormal muscle spindle morphology [Term] id: MP:0000995 name: absent secondary muscle spindle def: "lack of the sensory organ in muscle; involved in the stretch reflex and is not sensitive to stretch velocity" [ISBN:0-471-31639-3] synonym: "absent muscle spindle -secondary" EXACT [] is_a: MP:0000994 ! abnormal secondary muscle spindle morphology [Term] id: MP:0000996 name: partial loss of secondary muscle spindle def: "missing a portion of the sensory organ in muscle; involved in the stretch reflex and is not sensitive to stretch velocity" [ISBN:0-471-31639-3] synonym: "partial loss of muscle spindle-secondary" EXACT [] is_a: MP:0000994 ! abnormal secondary muscle spindle morphology [Term] id: MP:0000997 name: abnormal synovial joint capsule morphology def: "any structural anomaly of the sac or its contents that encloses the articulating ends of bones participating in a synovial joint" [ISBN:0-683-40008-8] synonym: "abnormal articular capsule morphology" EXACT [] synonym: "abnormal capsula articularis morphology" EXACT [] synonym: "abnormal joint capsule morphology" EXACT [] synonym: "abnormal joint fibrous capsule morphology" EXACT [] synonym: "joint capsule dysplasia" EXACT [] is_a: MP:0030804 ! abnormal synovial joint morphology [Term] id: MP:0000998 name: absent synovial joint capsule def: "missing the sac that encloses the articulating ends of bones participating in a synovial joint" [ISBN:0-683-40008-8] synonym: "absent articular capsule" EXACT [] synonym: "absent capsula articularis" EXACT [] synonym: "absent joint capsule" EXACT [] synonym: "absent joint fibrous capsule" EXACT [] is_a: MP:0000997 ! abnormal synovial joint capsule morphology [Term] id: MP:0000999 name: abnormal golgi tendon organ morphology def: "any structural anomaly of the sensory organ in muscle that is involved in regulating muscle tension" [ISBN:0838580343] synonym: "abnormal neurotendinous organ morphology" EXACT [] synonym: "abnormal neurotendinous spindle morphology" EXACT [] synonym: "golgi tendon organ dysplasia" EXACT [] is_a: MP:0000990 ! abnormal skeletal muscle mechanoreceptor morphology [Term] id: MP:0001000 name: absent golgi tendon organ def: "missing sensory organ in muscle that is involved in regulating muscle tension" [ISBN:0838580343] synonym: "absent neurotendinous organ" EXACT [] synonym: "absent neurotendinous spindle" EXACT [] is_a: MP:0000999 ! abnormal golgi tendon organ morphology [Term] id: MP:0001001 name: abnormal chemoreceptor morphology def: "any structural anomaly of any of the cells specialized to detect chemical substances and relay that information centrally in the nervous system" [MESH:A08.800.550.700.120] synonym: "abnormal chemoreceptors" BROAD [] is_a: MP:0000965 ! abnormal sensory neuron morphology [Term] id: MP:0001002 name: obsolete abnormal taste bud morphology def: "OBSOLETE. any structural anomaly of the small sensory organs located in the tongue that contain gustatory receptor cells, basal cells, and supporting cells" [MESH:A03.556.500.885.779, MGI:cwg] synonym: "abnormal taste buds" BROAD [] synonym: "taste bud dysplasia" EXACT [] is_obsolete: true [Term] id: MP:0001003 name: abnormal olfactory receptor morphology def: "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" [MESH:D12.776.543.750.100.600, MGI:cwg] synonym: "abnormal odorant receptors" BROAD [] synonym: "abnormal odourant receptors" BROAD [] is_a: MP:0006092 ! abnormal olfactory sensory neuron morphology [Term] id: MP:0001004 name: abnormal retina photoreceptor morphology def: "any structural anomaly of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A.08.663.650.650] synonym: "abnormal photoreceptors" BROAD [] synonym: "abnormal retinal photoreceptor morphology" EXACT [] xref: CL:0000210 is_a: MP:0000965 ! abnormal sensory neuron morphology is_a: MP:0003728 ! abnormal retina photoreceptor layer morphology [Term] id: MP:0001005 name: abnormal retina rod cell morphology def: "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" [MESH:A08.663.650.650.670.650] synonym: "abnormal retinal rod cell morphology" EXACT [] synonym: "abnormal rod morphology" BROAD [] synonym: "abnormal rods" BROAD [] xref: CL:0000604 is_a: MP:0001004 ! abnormal retina photoreceptor morphology [Term] id: MP:0001006 name: abnormal retina cone cell morphology def: "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" [MESH:A08.663.650.650.670.100] synonym: "abnormal cone morphology" BROAD [] synonym: "abnormal cone photoreceptor morphology" EXACT [] synonym: "abnormal cones" BROAD [] synonym: "abnormal retinal cone cell morphology" EXACT [] xref: CL:0000573 is_a: MP:0001004 ! abnormal retina photoreceptor morphology [Term] id: MP:0001007 name: abnormal sympathetic system morphology def: "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" [ISBN:0-683-40008-8, MESH:A08.800.050.800] synonym: "abnormal adrenergic system morphology" EXACT [] synonym: "abnormal somatic sympathetic system morphology" EXACT [] synonym: "abnormal thoracolumbar system morphology" EXACT [] synonym: "sympathetic system abnormalities" BROAD [] synonym: "sympathetic system dysplasia" EXACT [] is_a: MP:0002751 ! abnormal autonomic nervous system morphology [Term] id: MP:0001008 name: abnormal sympathetic ganglion morphology def: "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" [MESH:A08.340.315.350] synonym: "abnormal sympathetic ganglia morphology" EXACT [] synonym: "sympathetic ganglia abnormalities" BROAD [] synonym: "sympathetic ganglion dysplasia" EXACT [] is_a: MP:0001007 ! abnormal sympathetic system morphology [Term] id: MP:0001009 name: paravertebral ganglia hyperplasia def: "increase in the number of normal cells in normal arrangement in the paravertebral ganglia, typically resulting in increased size" [ISBN:0-683-40008-8] synonym: "hyperplastic paravertebral ganglia" EXACT [] is_a: MP:0008317 ! abnormal paravertebral ganglion morphology [Term] id: MP:0001010 name: prevertebral ganglia hyperplasia def: "increase in the number of normal cells in normal arrangement in the prevertebral ganglia, typically resulting in increased size" [ISBN:0-683-40008-8] synonym: "hyperplastic prevertebral ganglia" EXACT [] is_a: MP:0008316 ! abnormal prevertebral ganglion morphology [Term] id: MP:0001011 name: abnormal superior cervical ganglion morphology def: "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" [ISBN:0-683-40008-8] synonym: "abnormal ganglion cervicale superius morphology" EXACT [] synonym: "abnormal superior cervical ganglia" BROAD [] synonym: "superior cervical ganglion dysplasia" EXACT [] is_a: MP:0008317 ! abnormal paravertebral ganglion morphology [Term] id: MP:0001012 name: superior cervical ganglion hypertrophy def: "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" [ISBN:0-683-40008-8] synonym: "ganglion cervicale superius hypertrophy" EXACT [] synonym: "hypertrophic superior cervical ganglion" EXACT [] synonym: "hypertrophy of superior cervical ganglion" EXACT [] is_a: MP:0001013 ! enlarged superior cervical ganglion [Term] id: MP:0001013 name: enlarged superior cervical ganglion def: "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" [ISBN:0-683-40008-8] synonym: "enlarged ganglion cervicale superius" EXACT [] synonym: "increased superior cervical ganglion size" EXACT [] is_a: MP:0001011 ! abnormal superior cervical ganglion morphology [Term] id: MP:0001014 name: absent superior cervical ganglion def: "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" [ISBN:0-683-40008-8] synonym: "absence of superior cervical ganglion" EXACT [] synonym: "absent ganglion cervicale superius" EXACT [] is_a: MP:0001011 ! abnormal superior cervical ganglion morphology [Term] id: MP:0001015 name: small superior cervical ganglion def: "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" [ISBN:0-683-40008-8] synonym: "decreased superior cervical ganglion size" EXACT [] synonym: "reduced superior cervical ganglion size" EXACT [] synonym: "small ganglion cervicale superius" EXACT [] is_a: MP:0001011 ! abnormal superior cervical ganglion morphology [Term] id: MP:0001016 name: abnormal middle cervical ganglion morphology def: "any structural anomaly of the small ganglion located at the level of the cricoid cartilage of the laryngeal wall" [ISBN:0-683-40008-8] synonym: "abnormal middle cervical ganglia morphology" BROAD [] synonym: "middle cervical ganglion dysplasia" EXACT [] is_a: MP:0008317 ! abnormal paravertebral ganglion morphology [Term] id: MP:0001017 name: abnormal stellate ganglion morphology def: "any structural anomaly of the group of neurons formed by the fusion of the inferior cervical and first thoracic ganglia" [ISBN:0-683-40008-8, MESH:A08.340.315.350.800] synonym: "abnormal cervicothoracic ganglion morphology" EXACT [] synonym: "abnormal stellate ganglia morphology" EXACT [] synonym: "stellate ganglion dysplasisa" EXACT [] is_a: MP:0008317 ! abnormal paravertebral ganglion morphology [Term] id: MP:0001018 name: obsolete abnormal adrenal gland ganglion def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001019 name: abnormal L4 dorsal root ganglion morphology alt_id: MP:0006406 def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal L4 dorsal root ganglia" BROAD [] synonym: "abnormal L4 DRG morphology" EXACT [] synonym: "abnormal L4 ganglion morphology" EXACT [] synonym: "abnormal L4 sympathetic ganglia morphology" EXACT [] synonym: "abnormal L4 sympathetic ganglion morphology" EXACT [] synonym: "L4 dorsal root ganglion dysplasia" EXACT [] synonym: "L4 ganglion dysplasia" EXACT [] is_a: MP:0006404 ! abnormal lumbar dorsal root ganglion morphology [Term] id: MP:0001020 name: L4 dorsal root ganglion hypertrophy def: "increased bulk size of the L4 spinal ganglion" [J:34172] synonym: "hypertrophy of L4 ganglion" EXACT [] synonym: "L4 DRG ganglion hypertrophy" EXACT [] synonym: "L4 ganglia hypertrophy" EXACT [] is_a: MP:0001019 ! abnormal L4 dorsal root ganglion morphology [Term] id: MP:0001021 name: small L4 dorsal root ganglion def: "reduced size of the L4 spinal ganglion" [J:17792] synonym: "decreased L4 dorsal root ganglion size" EXACT [] synonym: "reducedL4 dorsal root ganglion size" EXACT [] synonym: "small L4 dorsal root ganglia" EXACT [] synonym: "small L4 DRG ganglion" EXACT [] is_a: MP:0001019 ! abnormal L4 dorsal root ganglion morphology [Term] id: MP:0001022 name: abnormal L5 dorsal root ganglion morphology alt_id: MP:0006407 def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal L5 dorsal root ganglia morphology" EXACT [] synonym: "abnormal L5 DRG morphology" EXACT [] synonym: "abnormal L5 ganglion morphology" EXACT [] synonym: "abnormal L5 sympathetic ganglia morphology" EXACT [] synonym: "abnormal L5 sympathetic ganglion morphology" EXACT [] synonym: "L5 dorsal root ganglion dysplasia" EXACT [] synonym: "L5 ganglion dysplasia" EXACT [] is_a: MP:0006404 ! abnormal lumbar dorsal root ganglion morphology [Term] id: MP:0001023 name: L5 dorsal root ganglion hypertrophy def: "increased bulk size of L5 spinal ganglion" [J:34172] synonym: "hypertrophy of L5 ganglion" EXACT [] synonym: "L5 dorsal root ganglia hypertrophy" EXACT [] synonym: "L5 DRG hypertrophy" EXACT [] is_a: MP:0001022 ! abnormal L5 dorsal root ganglion morphology [Term] id: MP:0001024 name: small L5 dorsal root ganglion def: "reduced size of the L5 spinal ganglion" [J:17792] synonym: "decreased L5 dorsal root ganglion size" EXACT [] synonym: "reduced L5 dorsal root ganglion size" EXACT [] synonym: "small L5 dorsal root ganglia" EXACT [] synonym: "small L5 DRG" EXACT [] is_a: MP:0001022 ! abnormal L5 dorsal root ganglion morphology [Term] id: MP:0001025 name: abnormal sympathetic neuron morphology def: "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" [MESH:A08.800.050.800] synonym: "abnormal sympathetic neurons" BROAD [] synonym: "sympathetic neuron abnormalities" BROAD [] is_a: MP:0000965 ! abnormal sensory neuron morphology is_a: MP:0001007 ! abnormal sympathetic system morphology [Term] id: MP:0001026 name: abnormal adrenergic neuron morphology def: "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" [ISBN:070202788X] synonym: "abnormal adrenergic neurons" BROAD [] synonym: "adrenergic neuron abnormalities" BROAD [] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0001027 name: obsolete abnormal adrenergic innervation def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "adrenergic innervation abnormalities" EXACT [] is_obsolete: true [Term] id: MP:0001028 name: obsolete adrenergic hyperinnervation of muscle def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001031 name: obsolete cholinergic hyperinnervation of muscle def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001032 name: abnormal peptidergic neuron morphology def: "any structural anomaly of the nerve fibers that release small peptides as their neurotransmitter" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal peptidergic neurons" BROAD [] synonym: "peptidergic neuron abnormalities" BROAD [] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0001033 name: abnormal parasympathetic system morphology def: "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" [ISBN:0-683-40008-8, MESH:A08.800.050.600] synonym: "abnormal cholinergic system morphology" EXACT [] synonym: "abnormal craniosacral system morphology" EXACT [] synonym: "abnormal somatic parasympathetic system morphology" EXACT [] synonym: "parasympathetic system abnormalities" BROAD [] synonym: "parasympathetic system dysplasia" EXACT [] is_a: MP:0002751 ! abnormal autonomic nervous system morphology [Term] id: MP:0001034 name: abnormal parasympathetic ganglion morphology def: "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" [MESH:A08.340.315.300] synonym: "abnormal parasympathetic ganglia" BROAD [] synonym: "parasympathetic ganglion dysplasia" EXACT [] is_a: MP:0001033 ! abnormal parasympathetic system morphology [Term] id: MP:0001035 name: abnormal submandibular ganglion morphology def: "any structural anomaly of the ganglion associated with the lingual nerve that provides postsynaptic fibers to the submandibular and sublingual glands" [ISBN:0-683-40008-8] synonym: "abnormal submandibular ganglia" BROAD [] synonym: "abnormal submaxillary ganglion morphology" EXACT [] synonym: "submandibular ganglion dysplasia" EXACT [] xref: MA:0002470 is_a: MP:0001034 ! abnormal parasympathetic ganglion morphology [Term] id: MP:0001036 name: small submandibular ganglion def: "reduced size of the small parasympathetic ganglion of the lingual nerve" [ISBN:0-683-40008-8, J:53284] synonym: "small submandibular ganglia" EXACT [] synonym: "small submaxillary ganglion" EXACT [] is_a: MP:0001035 ! abnormal submandibular ganglion morphology [Term] id: MP:0001037 name: abnormal parasympathetic neuron morphology def: "any structural anomaly of the neurons of the autonomic nervous system that are responsible for innervation of smooth muscle, cardiac muscle and glands" [MESH:A08.800.050.600] synonym: "abnormal parasympathetic neurons" BROAD [] is_a: MP:0000965 ! abnormal sensory neuron morphology is_a: MP:0001033 ! abnormal parasympathetic system morphology [Term] id: MP:0001038 name: abnormal cholinergic neuron morphology alt_id: MP:0001029 def: "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" [ISBN:070202788X, ISBN:0838580343] synonym: "cholinergic neuron abnormalities" BROAD [] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0001039 name: obsolete abnormal cholinergic innervation alt_id: MP:0001030 def: "OBSOLETE. malformation or absence of the supply of nerve fibers that utilize acetylcholine as a neurotransmitter" [ISBN:0838580343] synonym: "cholinergic innervation abnormalities" EXACT [] is_obsolete: true [Term] id: MP:0001040 name: deficient enteric cholinergic innervation alt_id: MP:0001050 def: "defective or incomplete supply of nerve fibers to the intestinal system that utilize acetylcholine as a neurotransmitter" [J:53284] is_a: MP:0001049 ! abnormal enteric cholinergic innervation [Term] id: MP:0001041 name: obsolete absent lacrimal gland cholinergic innervation def: "OBSOLETE. missing supply of nerve fibers to the gland that secretes tears" [ISBN:0-683-40008-8] is_obsolete: true [Term] id: MP:0001042 name: obsolete absent sublingual salivary gland cholinergic innervation def: "OBSOLETE. missing supply of nerve fibers to the exocrine gland on the floor of the mouth that secretes saliva" [ISBN:0-683-40008-8] is_obsolete: true [Term] id: MP:0001043 name: obsolete absent parotid salivary gland cholinergic innervation def: "OBSOLETE. missing supply of nerve fibers to the exocrine gland lateral to the jaw that secretes saliva" [ISBN:0-683-40008-8] is_obsolete: true [Term] id: MP:0001044 name: abnormal enteric nervous system morphology def: "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" [https://orcid.org/0000-0003-3691-0324, MESH:A08.800.050.150] synonym: "enteric nervous system abnormalities" BROAD [] synonym: "enteric nervous system dysplasia" EXACT [] is_a: MP:0002751 ! abnormal autonomic nervous system morphology [Term] id: MP:0001045 name: abnormal enteric ganglia morphology def: "any structural anomaly or deformity of the groups of nerve cell bodies associated with the enteric neurons" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal enteric ganglia" BROAD [] synonym: "enteric ganglion dysplasia" EXACT [] is_a: MP:0001044 ! abnormal enteric nervous system morphology [Term] id: MP:0001046 name: abnormal enteric neuron morphology def: "any structural anomaly of the neurons that innervate the esophagus, stomach, small and large bowel" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal enteric neurons" BROAD [] is_a: MP:0001044 ! abnormal enteric nervous system morphology is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0001047 name: abnormal enteric cholinergic neuron morphology def: "any structural anomaly of the neurons that utilize acetylcholine as a neurotransmitter and innervate the esophagus, stomach, small and large bowel" [ISBN:0838580343] synonym: "abnormal enteric cholinergic neurons" BROAD [] is_a: MP:0001038 ! abnormal cholinergic neuron morphology is_a: MP:0001046 ! abnormal enteric neuron morphology [Term] id: MP:0001048 name: absent enteric neurons def: "absence of the neurons that innervate the esophagus, stomach, small and large bowel" [ISBN:0838580343] synonym: "absence of enteric neurons" EXACT [] is_a: MP:0001046 ! abnormal enteric neuron morphology [Term] id: MP:0001049 name: abnormal enteric cholinergic innervation def: "any structural anomaly of the supply of nerve fibers that utilize acetylcholine as a neurotransmitter to the intestinal system" [ISBN:0-683-40008-8] is_a: MP:0001047 ! abnormal enteric cholinergic neuron morphology [Term] id: MP:0001051 name: abnormal somatic motor system morphology def: "any structural anomaly of the neural tissue involved in the transmission of motor signals" [https://orcid.org/0000-0003-3691-0324] synonym: "somatic motor system abnormalities" EXACT [] synonym: "somatic motor system dysplasia" EXACT [] is_a: MP:0002752 ! abnormal somatic nervous system morphology [Term] id: MP:0001052 name: abnormal innervation pattern to muscle def: "any changes in the placement, morphology or number of sensory, sympathetic or motor nerves to targets in muscle" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal muscle innervation" RELATED [] synonym: "muscle innervation abnormalities" EXACT [] is_a: MP:0002184 ! abnormal innervation [Term] id: MP:0001053 name: abnormal neuromuscular synapse morphology def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal neuromuscular junction morphology" EXACT [] synonym: "abnormal NMJ morphology" EXACT [] synonym: "neuromuscular synapse abnormalities" BROAD [] is_a: MP:0001051 ! abnormal somatic motor system morphology is_a: MP:0009538 ! abnormal synapse morphology [Term] id: MP:0001054 name: failure of neuromuscular synapse presynaptic differentiation def: "inability of nerve terminals to find target and/or form terminal arbors for synaptic transmission at the neuromuscular synapse" [PMID:10742104] synonym: "failure of neuromuscular synapse pre-synaptic differentiation" EXACT [] is_a: MP:0001053 ! abnormal neuromuscular synapse morphology [Term] id: MP:0001055 name: failure of neuromuscular synapse postsynaptic differentiation def: "inability of an effector cell to form a differentiated postsynaptic membrane in response to innervation at the neuromuscular synapse" [PMID:10742104] synonym: "failure of neuromuscular synapse post-synaptic differentiation" EXACT [] is_a: MP:0001053 ! abnormal neuromuscular synapse morphology [Term] id: MP:0001056 name: abnormal cranial nerve morphology def: "any structural anomaly of any of the twelve nerves that emerge from the cranium as opposed to the spinal nerves" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:9362461] synonym: "abnormal cranial nerves" BROAD [] synonym: "cranial nerve abnormalities" BROAD [] synonym: "cranial nerve dysplasia" EXACT [] is_a: MP:0002752 ! abnormal somatic nervous system morphology [Term] id: MP:0001059 name: optic nerve atrophy alt_id: MP:0001331 def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "atrophic optic nerve" EXACT [] synonym: "atrophy of optic nerve" EXACT [] is_a: MP:0020342 ! small optic nerve [Term] id: MP:0001061 name: abnormal oculomotor nerve morphology def: "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" [ISBN:0-683-40008-8] synonym: "abnormal CN-III morphology" EXACT [] synonym: "oculomotor nerve abnormalities" BROAD [] synonym: "oculomotor nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001062 name: absent oculomotor nerve def: "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" [ISBN:0-683-40008-8, PMID:7925010] synonym: "absence of oculomotor nerve" EXACT [] synonym: "absent CN-III nerve" EXACT [] is_a: MP:0001061 ! abnormal oculomotor nerve morphology [Term] id: MP:0001063 name: abnormal trochlear nerve morphology def: "any structural anomaly of the fourth cranial nerve, which normally carries the motor innervation of the superior oblique muscles of the eye" [MESH:A08.800.800.120.800, MGI:cwg] synonym: "abnormal CN-IV morphology" EXACT [] synonym: "trochlear nerve abnormalities" BROAD [] synonym: "trochlear nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001064 name: absent trochlear nerve def: "absence of the fourth cranial nerve, which normally carries the motor innervation of the superior oblique muscles of the eye" [ISBN:0-683-40008-8, PMID:7925010] synonym: "absence of trochlear nerve" EXACT [] synonym: "absent CN-IV nerve" EXACT [] is_a: MP:0001063 ! abnormal trochlear nerve morphology [Term] id: MP:0001065 name: abnormal trigeminal nerve morphology def: "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" [ISBN:0-683-40008-8, ISBN:0838580343] synonym: "abnormal CN-V morphology" EXACT [] synonym: "trigeminal nerve abnormalities" BROAD [] synonym: "trigeminal nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001066 name: absent trigeminal nerve def: "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" [ISBN:0-683-40008-8] synonym: "absence of trigeminal nerve" EXACT [] synonym: "absent CN-V nerve" EXACT [] is_a: MP:0001065 ! abnormal trigeminal nerve morphology [Term] id: MP:0001067 name: absent mandibular nerve def: "missing third division of the trigeminal nerve" [ISBN:0-683-40008-8] synonym: "absence of mandibular nerve" EXACT [] is_a: MP:0001066 ! absent trigeminal nerve is_a: MP:0009800 ! abnormal mandibular nerve morphology [Term] id: MP:0001068 name: abnormal mandibular nerve branching def: "malformed or misprojected axons of the mandibular nerve" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal branching of mandibular nerve" EXACT [] is_a: MP:0009800 ! abnormal mandibular nerve morphology [Term] id: MP:0001069 name: obsolete absent trigeminal nerve connections to hindbrain def: "OBSOLETE. missing axonal connection from the trigeminal ganglion to the pons and medulla oblongata" [J:33038] synonym: "absence of trigeminal nerve connections to hindbrain" EXACT [] is_obsolete: true [Term] id: MP:0001070 name: abnormal abducens nerve morphology def: "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" [MESH:A08.800.800.120.030, MGI:cwg] synonym: "abducens nerve abnormalities" BROAD [] synonym: "abducens nerve dysplasia" EXACT [] synonym: "abnormal CN-VI morphology" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001071 name: abnormal facial nerve morphology def: "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" [ISBN:0-683-40008-8, ISBN:0838580343, PMID:7477377] synonym: "abnormal CN-VII morphology" EXACT [] synonym: "facial nerve abnormalities" BROAD [] synonym: "facial nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001072 name: abnormal vestibulocochlear nerve morphology def: "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" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8, PMID:1680563] synonym: "abnormal CN-VIII morphology" EXACT [] synonym: "abnormal eighth cranial nerve [CN VIII] morphology" EXACT [] synonym: "abnormal eighth nerve morphology" EXACT [] synonym: "abnormal nervus acusticus [CN VIII] morphology" EXACT [] synonym: "abnormal nervus octavus [CN VIII] morphology" EXACT [] synonym: "abnormal nervus statoacusticus [CN VIII] morphology" EXACT [] synonym: "abnormal nervus vestibulocochlearis [CN VIII] morphology" EXACT [] synonym: "abnormal octavus morphology" EXACT [] synonym: "abnormal statoacoustic nerve morphology" EXACT [] synonym: "vestibulocochlear nerve abnormalities" BROAD [] synonym: "vestibulocochlear nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001073 name: abnormal glossopharyngeal nerve morphology def: "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" [ISBN:0838580343] synonym: "abnormal CN-IX morphology" EXACT [] synonym: "glossopharyngeal nerve abnormalities" BROAD [] synonym: "glossopharyngeal nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001074 name: abnormal vagus nerve morphology def: "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" [ISBN:0838580343] synonym: "abnormal CN-X morphology" EXACT [] synonym: "abnormal vagal nerve morphology" EXACT [] synonym: "vagus nerve abnormalities" BROAD [] synonym: "vagus nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001075 name: abnormal accessory nerve morphology def: "any structural anomaly of the eleventh cranial nerve, which normally originates from neurons in the medulla and in the cervical spinal cord" [MESH:A08.800.800.120.060, MGI:cwg] synonym: "abnormal CN-XI morphology" EXACT [] synonym: "abnormal spinal accessory nerve morphology" EXACT [] synonym: "accessory nerve dysplasia" EXACT [] synonym: "spinal accessory nerve abnormalities" BROAD [] synonym: "spinal accessory nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001076 name: abnormal hypoglossal nerve morphology def: "any structural anomaly of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:9362461] synonym: "abnormal CN-XII morphology" EXACT [] synonym: "hypoglossal nerve abnormalities" BROAD [] synonym: "hypoglossal nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology [Term] id: MP:0001077 name: abnormal spinal nerve morphology def: "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" [MESH:A08.800.800.720] synonym: "abnormal spinal nerves" BROAD [] synonym: "spinal nerve abnormalities" BROAD [] synonym: "spinal nerve dysplasia" EXACT [] is_a: MP:0002752 ! abnormal somatic nervous system morphology [Term] id: MP:0001078 name: abnormal phrenic nerve morphology def: "any structural anomaly of motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "phrenic nerve dysplasia" EXACT [] is_a: MP:0001077 ! abnormal spinal nerve morphology [Term] id: MP:0001079 name: absent phrenic nerve def: "absence of the motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "absence of phrenic nerve" EXACT [] is_a: MP:0001078 ! abnormal phrenic nerve morphology [Term] id: MP:0001080 name: defasiculated phrenic nerve def: "misprojection or failure to bundle the motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] is_a: MP:0001078 ! abnormal phrenic nerve morphology is_a: MP:0009450 ! abnormal axon fasciculation [Term] id: MP:0001081 name: abnormal cranial ganglia morphology def: "any structural anomaly of the groups of nerve cell bodies associated with the twelve cranial nerves" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:9362461] synonym: "cranial ganglia abnormalities" BROAD [] synonym: "cranial ganglia dysplasia" EXACT [] is_a: MP:0002752 ! abnormal somatic nervous system morphology [Term] id: MP:0001082 name: abnormal geniculate ganglion morphology def: "any structural anomaly of the group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve)" [ISBN:0-683-40008-8] synonym: "abnormal cranial ganglion VII morphology" EXACT [] synonym: "abnormal geniculate ganglia morphology" EXACT [] synonym: "abnormal geniculate ganglion of facial (VII) nerve morphology" EXACT [] synonym: "geniculate ganglia dysplasia" EXACT [] is_a: MP:0000960 ! abnormal sensory ganglion morphology is_a: MP:0001081 ! abnormal cranial ganglia morphology [Term] id: MP:0001083 name: small geniculate ganglion def: "reduced size of the geniculate ganglion or decreased size of sensory neuron cell bodies associated with the facial nerve" [ISBN:0-683-40008-8] synonym: "decreased geniculate ganglion size" EXACT [] synonym: "small cranial ganglion VII" EXACT [] synonym: "small geniculate ganglion of facial (VII) nerve" EXACT [] is_a: MP:0001082 ! abnormal geniculate ganglion morphology [Term] id: MP:0001084 name: abnormal petrosal ganglion morphology alt_id: MP:0001099 def: "any structural anomaly of the larger, lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve" [ISBN:0-683-40008-8, PMID:9362461] synonym: "abnormal extracraniale ganglion morphology" EXACT [] synonym: "abnormal inferior glossopharyngeal ganglion morphology" EXACT [] synonym: "abnormal inferior glossopharyngeal ganglion of the glossopharyngeal (IX) nerve morphology" EXACT [] synonym: "abnormal petrosal ganglia morphology" EXACT [] synonym: "petrosal ganglion dysplasia" EXACT [] is_a: MP:0001096 ! abnormal glossopharyngeal ganglion morphology [Term] id: MP:0001085 name: small petrosal ganglion def: "reduced size of the lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve" [ISBN:0-683-40008-8, PMID:9362461] synonym: "reduced petrosal ganglion size" EXACT [] synonym: "small extracraniale ganglion" EXACT [] synonym: "small inferior glossopharyngeal ganglion" EXACT [] synonym: "small inferior glossopharyngeal ganglion of the glossopharyngeal (IX) nerve" EXACT [] synonym: "small petrosal ganglia" EXACT [] is_a: MP:0001084 ! abnormal petrosal ganglion morphology [Term] id: MP:0001086 name: absent petrosal ganglion def: "absence of the lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve" [ISBN:0-683-40008-8, PMID:9362461] synonym: "absent extracraniale ganglion" EXACT [] synonym: "absent inferior glossopharyngeal ganglion" EXACT [] synonym: "absent inferior glossopharyngeal ganglion of the glossopharyngeal (IX) nerve" EXACT [] synonym: "absent petrosal ganglia" EXACT [] is_a: MP:0001084 ! abnormal petrosal ganglion morphology [Term] id: MP:0001087 name: abnormal nodose ganglion morphology alt_id: MP:0001103 def: "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)" [ISBN:0-683-40008-8, PMID:9362461] synonym: "abnormal cranial ganglion X morphology" BROAD [] synonym: "abnormal inferior vagus ganglion morphology" EXACT [] synonym: "abnormal inferior vagus ganglion of the vagus (X) nerve morphology" EXACT [] synonym: "abnormal nodose ganglia morphology" EXACT [] synonym: "nodose ganglion dysplasia" EXACT [] is_a: MP:0000960 ! abnormal sensory ganglion morphology is_a: MP:0001100 ! abnormal vagus ganglion morphology [Term] id: MP:0001088 name: small nodose ganglion def: "reduced size of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve)" [ISBN:0-683-40008-8, PMID:9362461] synonym: "decreased nodose ganglion size" EXACT [] synonym: "reduced nodose ganglion size" EXACT [] synonym: "small cranial ganglion X" BROAD [] synonym: "small inferior vagus ganglion" EXACT [] synonym: "small inferior vagus ganglion of the vagus (X) nerve" EXACT [] synonym: "small nodose ganglia" EXACT [] is_a: MP:0001087 ! abnormal nodose ganglion morphology [Term] id: MP:0001089 name: absent nodose ganglion def: "absence of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve)" [ISBN:0-683-40008-8, PMID:9362461] synonym: "absent cranial ganglion X" BROAD [] synonym: "absent inferior vagus ganglion" EXACT [] synonym: "absent inferior vagus ganglion of the vagus (X) nerve" EXACT [] synonym: "absent nodose ganglia" EXACT [] is_a: MP:0001087 ! abnormal nodose ganglion morphology [Term] id: MP:0001091 name: obsolete small vestibular cochlear ganglion def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0003703 [Term] id: MP:0001092 name: abnormal trigeminal ganglion morphology def: "any structural anomaly of the group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve)" [ISBN:0-683-40008-8] synonym: "abnormal cranial ganglion V morphology" EXACT [] synonym: "abnormal Gasserian ganglion morphology" EXACT [] synonym: "abnormal semi-lunar ganglion morphology" EXACT [] synonym: "abnormal semilunar ganglion morphology" EXACT [] synonym: "abnormal trigeminal ganglia morphology" EXACT [] synonym: "abnormal trigeminal ganglion of trigeminal (V) nerve morphology" EXACT [] synonym: "trigeminal ganglion dysplasia" EXACT [] is_a: MP:0000960 ! abnormal sensory ganglion morphology is_a: MP:0001081 ! abnormal cranial ganglia morphology [Term] id: MP:0001093 name: small trigeminal ganglion def: "reduced size of the trigeminal ganglion" [J:17123, J:25565] synonym: "decreased trigeminal ganglion size" EXACT [] synonym: "small cranial ganglion V" EXACT [] synonym: "small Gasserian ganglion" EXACT [] synonym: "small semi-lunar ganglion" EXACT [] synonym: "small semilunar ganglion" EXACT [] synonym: "small trigeminal ganglia" EXACT [] synonym: "small trigeminal ganglion of trigeminal (V) nerve" EXACT [] is_a: MP:0001092 ! abnormal trigeminal ganglion morphology [Term] id: MP:0001094 name: trigeminal ganglion hypertrophy def: "increased bulk size due to increased cell size of the trigeminal ganglion" [J:34172] synonym: "cranial ganglion V hypertrophy" EXACT [] synonym: "Gasserian ganglion hypertrophy" EXACT [] synonym: "hypertrophy of trigeminal ganglion" EXACT [] synonym: "semi-lunar ganglion hypertrophy" EXACT [] synonym: "semilunar ganglion hypertrophy" EXACT [] synonym: "trigeminal ganglia hypertrophy" EXACT [] synonym: "trigeminal ganglion of trigeminal (V) nerve hypertrophy" EXACT [] is_a: MP:0001095 ! enlarged trigeminal ganglion [Term] id: MP:0001095 name: enlarged trigeminal ganglion def: "increased size of the group of sensory neuron cell bodies associated with the trigeminal nerve" [J:17131] synonym: "enlarged cranial ganglion V" EXACT [] synonym: "enlarged Gasserian ganglion" EXACT [] synonym: "enlarged semi-lunar ganglion" EXACT [] synonym: "enlarged semilunar ganglion" EXACT [] synonym: "enlarged trigeminal ganglia" EXACT [] synonym: "enlarged trigeminal ganglion of trigeminal (V) nerve" EXACT [] synonym: "increased trigeminal ganglion size" EXACT [] is_a: MP:0001092 ! abnormal trigeminal ganglion morphology [Term] id: MP:0001096 name: abnormal glossopharyngeal ganglion morphology def: "any structural anomaly of the two groups of sensory neuron cell bodies associated with the ninth cranial nerve" [ISBN:0-683-40008-8] synonym: "abnormal cranial ganglion IX morphology" EXACT [] synonym: "abnormal glossopharyngeal ganglia morphology" EXACT [] synonym: "glossopharyngeal ganglia dysplasia" EXACT [] synonym: "glossopharyngeal ganglion dysplasia" EXACT [] is_a: MP:0001081 ! abnormal cranial ganglia morphology [Term] id: MP:0001097 name: abnormal superior glossopharyngeal ganglion morphology def: "any structural anomaly of the upper, smaller ganglion of the glossopharyngeal nerve located at the jugular foramen" [ISBN:0-683-40008-8] synonym: "abnormal intracranial ganglion morphology" EXACT [] synonym: "abnormal jugular ganglion morphology" BROAD [] synonym: "abnormal superior glossopharyngeal ganglia morphology" EXACT [] synonym: "abnormal superior glossopharyngeal ganglion of the glossopharyngeal (IX) nerve morphology" EXACT [] synonym: "superior glossopharyngeal ganglia dysplasia" EXACT [] is_a: MP:0001096 ! abnormal glossopharyngeal ganglion morphology [Term] id: MP:0001098 name: small superior glossopharyngeal ganglion def: "reduced size of the upper ganglion of the glossopharyngeal nerve located at the jugular foramen" [ISBN:0-683-40008-8, J:18984] synonym: "decreased superior glossopharyngeal ganglia size" EXACT [] synonym: "decreased superior glossopharyngeal ganglion size" EXACT [] synonym: "small intracranial ganglion" EXACT [] synonym: "small jugular ganglion" BROAD [] synonym: "small superior glossopharyngeal ganglia" EXACT [] synonym: "small superior glossopharyngeal ganglion of the glossopharyngeal (IX) nerve" EXACT [] is_a: MP:0001097 ! abnormal superior glossopharyngeal ganglion morphology [Term] id: MP:0001100 name: abnormal vagus ganglion morphology def: "any structural anomaly of the group of sensory neuron cell bodies associated with the vagus nerve" [ISBN:0-683-40008-8] synonym: "abnormal cranial ganglion X morphology" EXACT [] synonym: "abnormal vagus ganglia morphology" EXACT [] synonym: "vagus ganglia dysplasia" EXACT [] synonym: "vagus ganglion dysplasia" EXACT [] is_a: MP:0001081 ! abnormal cranial ganglia morphology [Term] id: MP:0001101 name: abnormal superior vagus ganglion morphology def: "any structural anomaly of the upper ganglion of the vagus nerve located at the jugular foramen" [ISBN:0-683-40008-8] synonym: "abnormal jugular ganglion morphology" BROAD [] synonym: "abnormal superior vagus ganglia morphology" EXACT [] synonym: "abnormal superior vagus ganglion of the vagus (X) nerve morphology" EXACT [] synonym: "jugular ganglion dysplasia" EXACT [] synonym: "superior vagus ganglion dysplasia" EXACT [] is_a: MP:0001100 ! abnormal vagus ganglion morphology [Term] id: MP:0001102 name: small superior vagus ganglion def: "reduced size of the upper ganglion of the vagus nerve located at the jugular foramen" [ISBN:0-683-40008-8, J:18984] synonym: "decreased superior vagus ganglion size" EXACT [] synonym: "small jugular ganglion" BROAD [] synonym: "small superior vagus ganglia" EXACT [] synonym: "small superior vagus ganglion of the vagus (X) nerve" EXACT [] is_a: MP:0001101 ! abnormal superior vagus ganglion morphology [Term] id: MP:0001105 name: abnormal PNS glial cell morphology def: "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" [MESH:A08.637] synonym: "abnormal neuroglia morphology" BROAD [] synonym: "abnormal PNS glia morphology" EXACT [] synonym: "PNS glia abnormalities" BROAD [] is_a: MP:0003634 ! abnormal glial cell morphology [Term] id: MP:0001106 name: abnormal Schwann cell morphology def: "any structural anomaly of the cells which form the insulating myelin sheaths of peripheral axons" [MESH:A08.637.800] synonym: "abnormal Schwann cells" BROAD [] synonym: "Schwann cell abnormalities" BROAD [] is_a: MP:0001105 ! abnormal PNS glial cell morphology [Term] id: MP:0001107 name: decreased Schwann cell number def: "fewer than normal number of cells that sheath the axons of the peripheral nervous system" [PMID:7477375] synonym: "reduced Schwann cell number" EXACT [] is_a: MP:0001106 ! abnormal Schwann cell morphology [Term] id: MP:0001108 name: absent Schwann cells def: "missing cells that sheath the axons of the peripheral nervous system" [J:43515] synonym: "absence of Schwann cells" EXACT [] is_a: MP:0001107 ! decreased Schwann cell number [Term] id: MP:0001109 name: absent Schwann cell precursors def: "missing progenitors of cells that sheath the axons of the peripheral nervous system" [J:43515] synonym: "absence of Schwann cell precursors" EXACT [] is_a: MP:0004075 ! decreased Schwann cell precursor number [Term] id: MP:0001116 name: small gonad def: "reduced size of the testis or the ovary" [ISBN:0-683-40008-8, J:34193] synonym: "decreased gonad size" EXACT [] synonym: "reduced gonad size" EXACT [] is_a: MP:0002211 ! abnormal primary sex determination [Term] id: MP:0001117 name: absent gametes def: "absence of mature reproductive cells, ovum or spermatozoon, capable of fusing with a cell of similar origin, but opposite sex to give a zygote" [ISBN:0-683-40008-8] synonym: "absence of gametes" EXACT [] is_a: MP:0001124 ! abnormal gametes [Term] id: MP:0001119 name: abnormal female reproductive system morphology def: "any structural anomaly of the organs associated with producing offspring in the gender that bears the offspring" [ISBN:0-683-40008-8] synonym: "abnormal female reproductive anatomy" EXACT [] synonym: "female reproductive anatomy dysplasia" EXACT [] is_a: MP:0002160 ! abnormal reproductive system morphology [Term] id: MP:0001120 name: abnormal uterus morphology def: "any structural anomaly of the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal metra morphology" EXACT [] synonym: "abnormal uterine morphology" EXACT [] synonym: "uterine dysplasia" EXACT [] synonym: "uterus dysplasia" EXACT [] is_a: MP:0009209 ! abnormal internal female genitalia morphology [Term] id: MP:0001121 name: uterus hypoplasia alt_id: MP:0003573 def: "decrease in the number of normal cells in normal arrangement in the uterus, typically resulting in decreased size" [J:45065] synonym: "hypoplasia of the uterus" EXACT [] synonym: "hypoplastic uterus" EXACT [] synonym: "metra hypoplasia" EXACT [] synonym: "metral hypoplasia" EXACT [] synonym: "rudimentary metra" EXACT [] synonym: "rudimentary uterus" EXACT [] synonym: "uterine hypoplasia" EXACT [] is_a: MP:0002637 ! small uterus [Term] id: MP:0001123 name: dilated uterus def: "stretched or widened luminal space of the female muscular organ of gestation" [J:50844] synonym: "dilated metra" EXACT [] synonym: "dilated uteri" EXACT [] synonym: "metra dilation" EXACT [] synonym: "uterine dilation" EXACT [] synonym: "uterus dilation" EXACT [] is_a: MP:0001120 ! abnormal uterus morphology [Term] id: MP:0001124 name: abnormal gametes def: "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" [ISBN:0-683-40008-8] is_a: MP:0002208 ! abnormal germ cell morphology [Term] id: MP:0001125 name: abnormal oocyte morphology def: "any structural anomaly of the mature germ cells in the female" [ISBN:0-683-40008-8] synonym: "abnormal oocytes" BROAD [] is_a: MP:0001931 ! abnormal oogenesis is_a: MP:0006361 ! abnormal female germ cell morphology [Term] id: MP:0001126 name: abnormal ovary morphology def: "any structural anomaly of the female reproductive gland containing the germ cells" [ISBN:0-683-40008-8] synonym: "abnormal gonad morphology" BROAD [] synonym: "abnormal ovarian morphology" EXACT [] synonym: "abnormal ovaries" BROAD [] synonym: "ovarian dysplasia" EXACT [] synonym: "ovary dysplasia" EXACT [] is_a: MP:0009209 ! abnormal internal female genitalia morphology is_a: MP:0013324 ! abnormal female reproductive gland morphology [Term] id: MP:0001127 name: small ovary def: "reduced size of the female reproductive gland containing the germ cells" [ISBN:0-683-40008-8] synonym: "decreased ovary size" EXACT [] synonym: "reduced ovary size" EXACT [] synonym: "small ovaries" EXACT [] is_a: MP:0001116 ! small gonad is_a: MP:0004853 ! abnormal ovary size [Term] id: MP:0001128 name: ovary hyperplasia def: "increase in the number of normal cells in normal arrangement in the ovary, typically resulting in increased size" [ISBN:0-683-40008-8] synonym: "hyperplastic ovaries" EXACT [] synonym: "hyperplastic ovary" EXACT [] synonym: "ovarian hyperplasia" EXACT [] is_a: MP:0004832 ! enlarged ovary [Term] id: MP:0001129 name: impaired ovarian folliculogenesis alt_id: MP:0001122 def: "a block in the formation of the spherical ovum in the ovary" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "impaired folliculogenesis" BROAD [] synonym: "impaired ovary folliculogenesis" EXACT [] is_a: MP:0001130 ! abnormal ovarian folliculogenesis [Term] id: MP:0001130 name: abnormal ovarian folliculogenesis def: "atypical formation or failure to form the spherical ovum in the ovary" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal folliculogenesis" BROAD [] synonym: "abnormal ovary folliculogenesis" EXACT [] is_a: MP:0001131 ! abnormal ovarian follicle morphology [Term] id: MP:0001131 name: abnormal ovarian follicle morphology def: "any structural anomaly of the sac-like structure in the ovary which surrounds an ovum" [ISBN:0-683-40008-8] synonym: "abnormal growing ovarian follicle morphology" NARROW [] synonym: "abnormal ovarian follicles" BROAD [] synonym: "ovarian follicle dysplasia" EXACT [] is_a: MP:0001126 ! abnormal ovary morphology [Term] id: MP:0001132 name: absent mature ovarian follicles def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "absence of mature ovarian follicles" EXACT [] is_a: MP:0001130 ! abnormal ovarian folliculogenesis is_a: MP:0002682 ! decreased mature ovarian follicle number [Term] id: MP:0001133 name: impaired luteal cell differentiation def: "abnormal development of the cells of the corpus luteum of the ovary" [ISBN:0-683-40008-8, PMID:8646780] is_a: MP:0003507 ! abnormal ovary physiology is_a: MP:0005076 ! abnormal cell differentiation [Term] id: MP:0001134 name: absent corpus luteum def: "absence of the yellow endocrine body formed in the ovary after follicle rupture" [ISBN:0-683-40008-8] synonym: "absent corpora lutea" EXACT [] is_a: MP:0002679 ! abnormal corpus luteum morphology [Term] id: MP:0001135 name: abnormal uterine cervix morphology def: "any structural anomaly of the lower opening of the uterus to the vagina" [MGI:tc] synonym: "abnormal canalis cervicis uteri morphology" EXACT [] synonym: "abnormal caudal segment of uterus morphology" EXACT [] synonym: "abnormal cervical canal morphology" EXACT [] synonym: "abnormal cervical canal of uterus morphology" EXACT [] synonym: "abnormal cervix morphology" BROAD [] synonym: "abnormal cervix uteri morphology" EXACT [] synonym: "abnormal neck of uterus morphology" EXACT [] synonym: "cervix dysplasia" BROAD [] is_a: MP:0001120 ! abnormal uterus morphology [Term] id: MP:0001136 name: dilated uterine cervix def: "stretched or widened aperture of the lower opening of the uterus to the vagina" [https://orcid.org/0000-0002-6490-7723] synonym: "cervical canal dilation" EXACT [] synonym: "cervix dilation" BROAD [] synonym: "dilated canalis cervicis uteri" EXACT [] synonym: "dilated caudal segment of uterus" EXACT [] synonym: "dilated cervical canal" EXACT [] synonym: "dilated cervical canal of uterus" EXACT [] synonym: "dilated cervix" BROAD [] synonym: "dilated cervix uteri" EXACT [] synonym: "dilated neck of uterus" EXACT [] synonym: "uterine cervix dilation" EXACT [] is_a: MP:0001135 ! abnormal uterine cervix morphology [Term] id: MP:0001137 name: abnormal uterine cervix epithelium morphology def: "any structural anomaly of the epithelial layer of the cervix" [MGI:tc] synonym: "abnormal cervical epithelium morphology" BROAD [] synonym: "abnormal cervix epithelium morphology" BROAD [] synonym: "cervical epithelium dysplasia" BROAD [] synonym: "cervix epithelium dysplasia" BROAD [] is_a: MP:0001135 ! abnormal uterine cervix morphology [Term] id: MP:0001138 name: abnormal uterine cervix squamous epithelium morphology def: "any structural anomaly of the scaly epithelial layer of the cervix" [MGI:tc] synonym: "abnormal cervical squamous epithelium morphology" BROAD [] synonym: "abnormal cervix squamous epithelium morphology" BROAD [] synonym: "cervical squamous epithelium dysplasia" BROAD [] synonym: "cervix squamous epithelium dysplasia" BROAD [] is_a: MP:0001137 ! abnormal uterine cervix epithelium morphology [Term] id: MP:0001139 name: abnormal vagina morphology def: "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" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC synonym: "abnormal vaginal morphology" EXACT [] synonym: "vaginal dysplasia" EXACT [] is_a: MP:0009209 ! abnormal internal female genitalia morphology [Term] id: MP:0001140 name: abnormal vagina epithelium morphology def: "any structural anomaly of the epithelial layer of the vagina" [MGI:tc, PMID:10227294] synonym: "abnormal vaginal epithelium morphology" EXACT [] is_a: MP:0001139 ! abnormal vagina morphology [Term] id: MP:0001141 name: thickened vaginal epithelium def: "increased depth of the vaginal epithelial layer" [PMID:1709129] is_a: MP:0001140 ! abnormal vagina epithelium morphology [Term] id: MP:0001142 name: abnormal vagina orifice morphology def: "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" [https://orcid.org/0000-0002-6490-7723, https://orcid.org/0000-0003-3691-0324] synonym: "abnormal introitus of vagina morphology" EXACT [] synonym: "abnormal orificium vaginae morphology" EXACT [] synonym: "abnormal ostium vaginae morphology" EXACT [] synonym: "abnormal vagina opening" EXACT [] synonym: "abnormal vaginal introitus morphology" EXACT [] synonym: "abnormal vaginal opening" EXACT [] synonym: "abnormal vaginal orifice morphology" EXACT [] is_a: MP:0001139 ! abnormal vagina morphology [Term] id: MP:0001143 name: constricted vagina orifice def: "shrunken, narrowed external median slit located inferior and posterior to the external urethral orifice in the female" [https://orcid.org/0000-0002-6490-7723] synonym: "constricted vagina opening" EXACT [] synonym: "constricted vaginal introitus" EXACT [] synonym: "constricted vaginal opening" EXACT [] is_a: MP:0001142 ! abnormal vagina orifice morphology [Term] id: MP:0001144 name: vagina atresia def: "imperforation or occlusion of the vagina, or adhesion of the walls of the vagina" [https://orcid.org/0000-0002-6490-7723] synonym: "closed vagina" RELATED [] synonym: "colpatresia" EXACT [] synonym: "complete failure of vagina opening" EXACT [] synonym: "fused vagina opening" EXACT [] synonym: "fused vaginal opening" RELATED [] synonym: "imperforate vagina" EXACT [] synonym: "vaginal atresia" EXACT [] is_a: MP:0001142 ! abnormal vagina orifice morphology [Term] id: MP:0001145 name: abnormal male reproductive system morphology def: "any structural anomaly of the organs associated with producing offspring in the gender that produces spermatozoa" [ISBN:0-683-40008-8] synonym: "abnormal male reproductive anatomy" EXACT [] synonym: "abnormality of male external genitalia" BROAD [] synonym: "male reproductive anatomy dysplasia" EXACT [] is_a: MP:0002160 ! abnormal reproductive system morphology [Term] id: MP:0001146 name: abnormal testis morphology alt_id: MP:0003206 def: "any structural anomaly of the male reproductive glands" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC synonym: "abnormal didymus morphology" EXACT [] synonym: "abnormal gonad morphology" BROAD [] synonym: "abnormal male gonad morphology" EXACT [] synonym: "abnormal orchis morphology" EXACT [] synonym: "abnormal testes morphology" EXACT [] synonym: "abnormal testicle morphology" EXACT [] synonym: "abnormal testiculus morphology" EXACT [] synonym: "abnormality of the testis" BROAD [] synonym: "testicular dysplasia" EXACT [] synonym: "testis dysplasia" EXACT [] is_a: MP:0009205 ! abnormal internal male genitalia morphology is_a: MP:0013325 ! abnormal male reproductive gland morphology [Term] id: MP:0001147 name: small testis def: "reduced size of the male reproductive glands" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC synonym: "decreased testis size" EXACT [] synonym: "male hypogonadism" RELATED [] synonym: "microorchidism" EXACT [] synonym: "microrchidia" EXACT [] synonym: "reduced testis size" EXACT [] synonym: "small male gonad" EXACT [] synonym: "small testes" EXACT [] synonym: "small testicles" EXACT [] is_a: MP:0001116 ! small gonad is_a: MP:0004849 ! abnormal testis size [Term] id: MP:0001148 name: enlarged testis def: "increased size of the male reproductive glands" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "enlarged didymus" EXACT [] synonym: "enlarged male gonad" EXACT [] synonym: "enlarged testes" EXACT [] synonym: "enlarged testicles" EXACT [] synonym: "increased testis size" EXACT [] synonym: "macroorchidism" EXACT [] is_a: MP:0004849 ! abnormal testis size [Term] id: MP:0001149 name: testicular hyperplasia def: "increase in the number of normal cells in normal arrangement in the testes, typically resulting in increased size" [ISBN:0-683-40008-8] synonym: "hyperplastic male gonad" EXACT [] synonym: "hyperplastic testes" EXACT [] synonym: "hyperplastic testicles" EXACT [] synonym: "testis hyperplasia" EXACT [] is_a: MP:0001148 ! enlarged testis [Term] id: MP:0001150 name: enlarged scrotum def: "increased size of the external sac of skin that encloses the testes" [ISBN:0-683-40008-8, PMID:1709129] synonym: "increased scrotum size" EXACT [] is_a: MP:0002669 ! abnormal scrotum morphology [Term] id: MP:0001151 name: enlarged foreskin def: "increased size of the loose fold of skin that covers the penis" [PMID:1709129] synonym: "increased foreskin size" EXACT [] is_a: MP:0003553 ! abnormal foreskin morphology [Term] id: MP:0001152 name: increased Leydig cell number def: "increased number of the interstitial cells found adjacent to the seminiferous tubules in the testicle that produce testosterone in the presence of luteinizing hormone" [https://orcid.org/0000-0002-0371-1954] synonym: "Leydig cell hyperplasia" NARROW [] is_a: MP:0001149 ! testicular hyperplasia is_a: MP:0002786 ! abnormal Leydig cell morphology [Term] id: MP:0001153 name: small seminiferous tubules def: "reduced diameter of the tubules in the testes where spermatogenesis occurs" [https://orcid.org/0000-0003-4606-0597] synonym: "narrow seminiferous tubules" EXACT [] is_a: MP:0006307 ! abnormal seminiferous tubule size [Term] id: MP:0001154 name: seminiferous tubule degeneration def: "a retrogressive impairment of function or destruction of the tubules in the testes where spermatogenesis occurs" [https://orcid.org/0000-0003-3691-0324] synonym: "degeneration of seminiferous tubules" EXACT [] is_a: MP:0002216 ! abnormal seminiferous tubule morphology [Term] id: MP:0001155 name: arrest of spermatogenesis def: "block of the process by which spermatogonial stem cells divide and differentiate into spermatozoa" [J:62271] is_a: MP:0001156 ! abnormal spermatogenesis [Term] id: MP:0001156 name: abnormal spermatogenesis def: "incomplete maturation or aberrant formation of the male gametes" [J:58959] synonym: "abnormal sperm development" EXACT [] is_a: MP:0001929 ! abnormal gametogenesis [Term] id: MP:0001157 name: small seminal vesicle alt_id: MP:0000657 def: "reduced size of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens" [ISBN:0-683-40008-8, MGI:cwg] synonym: "decreased seminal vesicle size" EXACT [] synonym: "small seminal gland" RELATED [] synonym: "small seminal vesicles" EXACT [] is_a: MP:0004907 ! abnormal seminal vesicle size [Term] id: MP:0001158 name: abnormal prostate gland morphology alt_id: MP:0000658 def: "any structural anomaly of the gland in males that secretes part of the seminiferous fluid" [ISBN:0-683-40008-8, PMID:10906459] synonym: "abnormal prostate morphology" EXACT [] synonym: "prostate dysplasia" EXACT [] synonym: "prostate gland dysplasia" EXACT [] xref: MA:0000404 is_a: MP:0009205 ! abnormal internal male genitalia morphology is_a: MP:0013330 ! abnormal male accessory sex gland morphology [Term] id: MP:0001159 name: absent prostate gland def: "missing gland in males that secretes part of the seminiferous fluid" [ISBN:0-683-40008-8] synonym: "absence of prostate gland" EXACT [] synonym: "absent prostate" EXACT [] is_a: MP:0001158 ! abnormal prostate gland morphology [Term] id: MP:0001163 name: abnormal prostate gland anterior lobe morphology alt_id: MP:0000663 def: "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" [PMID:12645922, PMID:3308446] comment: In rodents, the prostate gland consists of three lobes, the anterior prostate (AP; also known as the coagulating gland), the dorsolateral prostate (DLP), and the ventral prostate (VP). These lobes are arranged circumferentially around the urethra and display characteristic patterns of ductal branching and protein secretion (PMID:3308446). In contrast, the adult human prostate lacks discernible lobular organization and, instead, completely envelops the urethra at the base of the bladder (PMID:3308446). synonym: "abnormal anterior prostate morphology" EXACT [] synonym: "abnormal AP morphology" EXACT [] synonym: "abnormal CG morphology" EXACT [] synonym: "abnormal coagulating gland morphology" EXACT [] xref: MA:0002422 is_a: MP:0001158 ! abnormal prostate gland morphology [Term] id: MP:0001167 name: prostate gland epithelial hyperplasia alt_id: MP:0000667 def: "epithelium is multi-layered instead of columnar and has increased cell number" [PMID:10906459] synonym: "hyperplastic prostate gland epithelium" EXACT [] synonym: "prostate epithelial hyperplasia" EXACT [] is_a: MP:0001168 ! abnormal prostate gland epithelium morphology [Term] id: MP:0001168 name: abnormal prostate gland epithelium morphology alt_id: MP:0000668 def: "any structural anomaly of the prostate epithelium" [PMID:10906459] synonym: "abnormal prostate epithelium morphology" EXACT [] synonym: "prostate epithelial dysplasia" EXACT [] xref: MA:0001737 is_a: MP:0001158 ! abnormal prostate gland morphology [Term] id: MP:0001169 name: abnormal bulbourethral gland morphology alt_id: MP:0000669 def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "abnormal bulbo-urethral gland morphology" EXACT [] synonym: "abnormal Cowper's gland morphology" EXACT [] synonym: "abnormal glandula bulbourethralis" EXACT [] synonym: "abnormal Mery gland morphology" EXACT [] synonym: "bulbourethral gland dysplasia" EXACT [] is_a: MP:0009205 ! abnormal internal male genitalia morphology is_a: MP:0013330 ! abnormal male accessory sex gland morphology [Term] id: MP:0001170 name: bulbourethral gland hyperplasia alt_id: MP:0000670 def: "increase in the number of normal cells in normal arrangement in the bulbourethral gland, typically resulting in increased size" [ISBN:0-683-40008-8, PMID:10906459] synonym: "bulbo-urethral gland hyperplasia" EXACT [] synonym: "Cowper's gland hyperplasia" EXACT [] synonym: "hyperplastic bulbourethral gland" EXACT [] synonym: "hyperplastic Cowper's gland" EXACT [] synonym: "Mery gland hyperplasia" EXACT [] is_a: MP:0001169 ! abnormal bulbourethral gland morphology [Term] id: MP:0001173 name: obsolete decreased number of ductal cells of the bulbourethral gland alt_id: MP:0000673 def: "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" [ISBN:0-683-40008-8] synonym: "reduced number of ductal cells in the Cowper's gland" EXACT [] synonym: "reduced number of ductal cells of the bulbourethral gland" EXACT [] is_obsolete: true consider: MP:0001169 [Term] id: MP:0001175 name: abnormal lung morphology def: "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" [ISBN:0-683-40008-8] subset: IMPC_Prenatal synonym: "abnormal lung" BROAD [] synonym: "lung dysplasia" EXACT [] is_a: MP:0002132 ! abnormal respiratory system morphology [Term] id: MP:0001176 name: abnormal lung development def: "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" [ISBN:0-683-40008-8] subset: IMPC_Prenatal is_a: MP:0001175 ! abnormal lung morphology is_a: MP:0003115 ! abnormal respiratory system development [Term] id: MP:0001177 name: atelectasis def: "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" [ISBN:0-683-40008-8] synonym: "collapsed lung" EXACT [] synonym: "pulmonary collapse" EXACT [] is_a: MP:0002270 ! abnormal pulmonary alveolus morphology [Term] id: MP:0001178 name: pulmonary hypoplasia def: "decrease in the number of normal cells in normal arrangement in the lung, typically resulting in decreased size" [ISBN:0-397-51047-0, MGI:cwg] synonym: "hypoplastic lung" EXACT [] synonym: "lung hypoplasia" EXACT [] is_a: MP:0003641 ! small lung [Term] id: MP:0001179 name: thick pulmonary interalveolar septum def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "thick alveolar septa" EXACT [] synonym: "thick alveolar septum" EXACT [] synonym: "thick interalveolar septum" EXACT [] synonym: "thick septum interalveolare" EXACT [] is_a: MP:0010900 ! abnormal pulmonary interalveolar septum morphology [Term] id: MP:0001180 name: obsolete cellular infiltration of airway walls def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001181 name: absent lungs def: "absence of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "absence of lungs" EXACT [] xref: Fyler:4206 is_a: MP:0001175 ! abnormal lung morphology [Term] id: MP:0001182 name: lung hemorrhage def: "bleeding within the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs" [ISBN:0-683-40008-8] synonym: "lung haemorrhage" EXACT [] synonym: "pulmonary bleeding" EXACT [] synonym: "pulmonary haemorrhage" EXACT [] synonym: "pulmonary hemorrhage" EXACT [] is_a: MP:0001634 ! internal hemorrhage is_a: MP:0002295 ! abnormal pulmonary circulation [Term] id: MP:0001183 name: overexpanded pulmonary alveolus def: "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" [ISBN:0-683-40008-8] synonym: "alveoli dilation" RELATED [] synonym: "alveolus dilation" RELATED [] synonym: "dilated alveoli" RELATED [] synonym: "dilated alveolus" RELATED [] synonym: "enlarged alveoli" RELATED [] synonym: "enlarged alveolus" RELATED [] synonym: "overexpanded pulmonary alveoli" EXACT [] synonym: "overexpanded respiratory alveoli" EXACT [] synonym: "overexpanded respiratory alveolus" EXACT [] is_a: MP:0002270 ! abnormal pulmonary alveolus morphology [Term] id: MP:0001184 name: absent pulmonary alveoli def: "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" [ISBN:0-683-40008-8] synonym: "absent respiratory alveoli" RELATED [] is_a: MP:0002270 ! abnormal pulmonary alveolus morphology [Term] id: MP:0001186 name: pigmentation phenotype def: "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" [KSU:jbengtson] is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0001188 name: hyperpigmentation def: "excess of pigment in any or all tissues or a part of a tissue" [ISBN:0-683-40008-8, PMID:9778510] is_a: MP:0001186 ! pigmentation phenotype [Term] id: MP:0001189 name: absent skin pigmentation def: "lack of pigmentation of the skin" [PMID:9949198] synonym: "albino" EXACT [] synonym: "pale skin" RELATED [] is_a: MP:0002095 ! abnormal skin pigmentation [Term] id: MP:0001190 name: reddish skin def: "skin has a more intense ruddy appearance than normal, often due to capillary congestion" [PMID:10921880] subset: Europhenome_Terms subset: IMPC synonym: "erythema" EXACT [] synonym: "erythematous skin" EXACT [] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001191 name: abnormal skin condition def: "any anomaly in the state or quality of the skin" [MGI:cwg] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms is_a: MP:0002060 ! abnormal skin morphology [Term] id: MP:0001192 name: scaly skin def: "loss of the outer layer of the epidermis in thick, dry scale-like patches" [PMID:8941642] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "skin scales" EXACT [] synonym: "skin scaling" EXACT [] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001193 name: psoriasis def: "chronic skin lesions characterized by inflammation and silvery-scaly patches" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] is_a: MP:0001191 ! abnormal skin condition [Term] id: MP:0001194 name: dermatitis alt_id: MP:0001205 alt_id: MP:0001206 def: "inflammation of the skin (redness and itching) caused by an allergic reaction or contact with an irritant" [PMID:8941642] synonym: "inflamed skin" BROAD [] synonym: "irritated skin" EXACT [] is_a: MP:0004947 ! skin inflammation [Term] id: MP:0001195 name: flaky skin def: "shedding flakes on the skin" [J:56641] subset: Europhenome_Terms subset: IMPC is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001196 name: shiny skin def: "skin with a glossy or glistening appearance" [J:56641] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001197 name: oily skin def: "skin secreting an unusually high amount of oil, resulting in a glossy, shiny appearance" [https://orcid.org/0000-0003-3691-0324] synonym: "greasy skin" EXACT [https://orcid.org/0000-0002-6490-7723] is_a: MP:0001196 ! shiny skin [Term] id: MP:0001198 name: tight skin def: "skin has a taut, stretched appearance" [PMID:10921880] synonym: "constricted skin" EXACT [] synonym: "taut skin" EXACT [] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001199 name: thin skin def: "reduced thickness of the outer protective layer of the body" [ISBN:0-683-40008-8] is_a: MP:0001191 ! abnormal skin condition [Term] id: MP:0001200 name: thick skin def: "greater thickness of the outer protective layer of the body" [ISBN:0-683-40008-8] is_a: MP:0001191 ! abnormal skin condition [Term] id: MP:0001201 name: translucent skin def: "skin that is more transparent to light than normal" [J:15108] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001202 name: skin photosensitivity def: "abnormally heightened reactivity of the skin to sunlight" [ISBN:0-683-40008-8] is_a: MP:0001191 ! abnormal skin condition is_a: MP:0005501 ! abnormal skin physiology [Term] id: MP:0001203 name: increased sensitivity to skin irradiation def: "increased incidence of aberrant or damaged cells due to irradiation induced genotoxic damage" [PMID:9185996] synonym: "decreased resistance to skin irradiation" EXACT [] synonym: "increased susceptibility to skin irradiation" RELATED [] synonym: "skin irradiation sensitivity" EXACT [] is_a: MP:0001191 ! abnormal skin condition is_a: MP:0005501 ! abnormal skin physiology [Term] id: MP:0001204 name: decreased sensitivity to skin irradiation def: "decreased incidence of aberrant or damaged cells due to irradiation induced genotoxic damage" [PMID:9185996] synonym: "increased resistance to skin irradiation" EXACT [] synonym: "skin irradiation resistance" EXACT [] is_a: MP:0001191 ! abnormal skin condition is_a: MP:0005501 ! abnormal skin physiology [Term] id: MP:0001208 name: blistering def: "accumulation of fluid- filled thin walled structures under the epidermis or within the epidermis" [J:65039] synonym: "blister" EXACT [] synonym: "skin blister" EXACT [] synonym: "skin vesicle" EXACT [] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001209 name: spontaneous skin ulceration def: "unpredictable appearance of skin lesions, usually with inflammation" [J:65302] synonym: "skin ulceration" EXACT [] is_a: MP:0001212 ! skin lesions [Term] id: MP:0001210 name: skin ridges def: "long raised strips of skin, usually aligned to the proximal-distal axis" [J:51296] synonym: "thick skin ridges" NARROW [] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001211 name: wrinkled skin def: "irregular folds and/or indentations on the skin" [PMID:7925010] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001212 name: skin lesions def: "focal pathological and/or inflammatory changes characterized by alteration in the size, shape and organization of the cellular components of the skin" [https://orcid.org/0000-0003-3691-0324] synonym: "cutaneous lesions" EXACT [] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0001213 name: abnormal skin cell number def: "greater than or fewer than the expected numbers of cells in the cutis" [MGI:cwg] is_a: MP:0002060 ! abnormal skin morphology [Term] id: MP:0001214 name: skin hyperplasia def: "increase in the number of normal cells in normal arrangement in the skin, typically resulting in increased thickness" [J:47225] synonym: "hyperplastic skin" EXACT [] is_a: MP:0001213 ! abnormal skin cell number [Term] id: MP:0001215 name: skin hypoplasia def: "decrease in the number of normal cells in normal arrangement in the skin, typically resulting in decreased size" [ISBN:0-683-40008-8] synonym: "hypoplastic skin" EXACT [] is_a: MP:0001213 ! abnormal skin cell number [Term] id: MP:0001216 name: abnormal epidermal layer morphology alt_id: MP:0001225 def: "any structural anomaly of the superficial epithelial portion of the skin" [ISBN:0-683-40008-8] synonym: "abnormal epidermis morphology" EXACT [] synonym: "epidermal dysplasia" EXACT [] synonym: "epidermal layer dysplasia" EXACT [] is_a: MP:0002060 ! abnormal skin morphology [Term] id: MP:0001217 name: absent epidermis def: "missing the epidermal cell layer in the skin" [MGI:tc, PMID:10227294] synonym: "absence of epidermal layer" EXACT [] synonym: "absence of epidermis" EXACT [] synonym: "loss of epidermal layer" BROAD [] synonym: "loss of epidermis" BROAD [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001218 name: thin epidermis def: "reduced thickness of the superficial epithelial portion of the skin" [ISBN:0-683-40008-8, J:61790] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001219 name: thick epidermis def: "increase in the width of the epidermal cell layer in the skin" [PMID:8941642] synonym: "thickened epidermis" EXACT [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001220 name: epidermal necrosis def: "morphological changes resulting from pathological death of the epidermal layer of skin; usually due to irreversible damage" [PMID:8941642] synonym: "epidermis necrosis" EXACT [] synonym: "necrotic skin epidermis" EXACT [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001221 name: epidermal atrophy def: "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" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0001216 ! abnormal epidermal layer morphology is_a: MP:0030584 ! skin atrophy [Term] id: MP:0001222 name: epidermal hyperplasia def: "increase in the number of normal cells in normal arrangement in the epidermis, typically resulting in increased thickness" [ISBN:0-683-40008-8, PMID:8941642] synonym: "hyperplastic epidermal layer" EXACT [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001224 name: abnormal keratinocyte apoptosis def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] xref: GO:0006915 xref: GO:0030216 is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0003453 ! abnormal keratinocyte physiology [Term] id: MP:0001230 name: epidermal desquamation def: "shedding of the cuticle of the epidermis in scales or shreds" [ISBN:0-683-40008-8, PMID:10469309] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001231 name: abnormal epidermis stratum basale morphology def: "any structural anomaly of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells" [ISBN:0-683-40008-8] synonym: "abnormal basal cell layer morphology" EXACT [] synonym: "abnormal basal layer morphology" EXACT [] synonym: "abnormal columnar layer morphology" EXACT [] synonym: "abnormal germinative layer morphology" EXACT [] synonym: "abnormal palisade layer morphology" EXACT [] synonym: "abnormal stratum basale epidermis morphology" EXACT [] synonym: "abnormal stratum cylindricum morphology" EXACT [] synonym: "abnormal stratum germinativum morphology" EXACT [] synonym: "epidermis basal cell layer dysplasia" EXACT [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001232 name: absent epidermis stratum basale def: "absence of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells" [ISBN:0-683-40008-8] synonym: "absence of basal layer" EXACT [] synonym: "absent basal cell layer" EXACT [] synonym: "absent basal layer" EXACT [] synonym: "absent columnar layer" EXACT [] synonym: "absent germinative layer" EXACT [] synonym: "absent palisade layer" EXACT [] synonym: "absent stratum basale epidermis" EXACT [] synonym: "absent stratum cylindricum" EXACT [] synonym: "absent stratum germinativum" EXACT [] is_a: MP:0001231 ! abnormal epidermis stratum basale morphology [Term] id: MP:0001233 name: abnormal epidermis suprabasal layer morphology def: "any structural anomaly of the suprabasal layer of the epidermis" [PMID:10469309] synonym: "abnormal suprabasal layer morphology" EXACT [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001234 name: absent suprabasal layer def: "absence of the suprabasal layer of the skin" [MGI:cwg] synonym: "absence of suprabasal layer" EXACT [] is_a: MP:0001233 ! abnormal epidermis suprabasal layer morphology [Term] id: MP:0001235 name: disorganized suprabasal layer def: "derangement of the pattern of the suprabasal layer of the skin" [MGI:cwg] synonym: "disorganised suprabasal layer" EXACT [] is_a: MP:0001233 ! abnormal epidermis suprabasal layer morphology [Term] id: MP:0001236 name: abnormal epidermis stratum spinosum morphology def: "any structural anomaly of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance" [ISBN:0-683-40008-8] synonym: "abnormal prickle cell layer morphology" EXACT [] synonym: "abnormal spinous layer morphology" EXACT [] synonym: "abnormal stratum spinosum morphology" EXACT [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001237 name: enlarged spinous cells def: "increased size of the immature keratinocytes of the spinous layer of the epidermis" [PMID:18197786] synonym: "enlarged prickle cells" EXACT [] synonym: "enlarged spinous cell size" EXACT [] synonym: "increased prickle cell size" EXACT [] is_a: MP:0001236 ! abnormal epidermis stratum spinosum morphology [Term] id: MP:0001238 name: thin epidermis stratum spinosum def: "reduced thickness of the stratum spinosum; the polyhedral cell layer" [ISBN:0-683-40008-8] synonym: "thin epidermal spinous layer" RELATED [] synonym: "thin prickle cell layer" EXACT [] synonym: "thin spinous layer" EXACT [] synonym: "thin stratum spinosum" EXACT [] is_a: MP:0001236 ! abnormal epidermis stratum spinosum morphology [Term] id: MP:0001239 name: abnormal epidermis stratum granulosum morphology def: "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" [ISBN:0-683-40008-8] synonym: "abnormal epidermal granular layer morphology" EXACT [] synonym: "abnormal granular layer morphology" BROAD [] synonym: "abnormal stratum granulosum morphology" BROAD [] synonym: "epidermal granular layer dysplasia" EXACT [] synonym: "epidermis stratum granulosum dysplasia" EXACT [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001240 name: abnormal epidermis stratum corneum morphology def: "any structural anomaly of the outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells" [ISBN:0-683-40008-8] synonym: "abnormal cornified layer morphology" EXACT [] synonym: "abnormal horny layer morphology" EXACT [] synonym: "abnormal stratum corneum morphology" EXACT [] synonym: "cornified layer dysplasia" EXACT [] synonym: "epidermis stratum corneum dysplasia" EXACT [] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0001241 name: absent epidermis stratum corneum def: "absence of the outer layer of the epidermis, composed of several layers of keratinized non-nucleated cells" [ISBN:0-683-40008-8] synonym: "absence of cornified layer" EXACT [] synonym: "absent cornified layer" EXACT [] synonym: "absent horny layer" EXACT [] synonym: "absent stratum corneum" EXACT [] is_a: MP:0001240 ! abnormal epidermis stratum corneum morphology [Term] id: MP:0001242 name: hyperkeratosis alt_id: MP:0001223 def: "thickening of the horny layer of the epidermis" [ISBN:0-683-40008-8] subset: IMPC subset: Sanger_Terms synonym: "epidermal hyperkeratosis" EXACT [] synonym: "thickened cornified layer" EXACT [] synonym: "thickened horny layer" EXACT [] synonym: "thickened stratum corneum" EXACT [] synonym: "thicker cornified layer" EXACT [] synonym: "thicker horny layer" EXACT [] synonym: "thicker stratum corneum" EXACT [] is_a: MP:0001240 ! abnormal epidermis stratum corneum morphology [Term] id: MP:0001243 name: abnormal dermal layer morphology def: "any structural anomaly or atypical condition of the dermal layer of the skin" [ISBN:0-683-40008-8, PMID:10469309] synonym: "abnormal corium morphology" EXACT [] synonym: "abnormal cutis vera morphology" EXACT [] synonym: "abnormal dermis morphology" EXACT [] synonym: "dermal layer dysplasia" EXACT [] is_a: MP:0002060 ! abnormal skin morphology [Term] id: MP:0001244 name: thin dermal layer def: "reduced thickness of the dermis" [J:65030] synonym: "thin corium" EXACT [] synonym: "thin cutis vera" EXACT [] synonym: "thin dermis" EXACT [] is_a: MP:0001243 ! abnormal dermal layer morphology [Term] id: MP:0001245 name: thick dermal layer def: "increased depth of the dermis" [J:65033] synonym: "thick corium" EXACT [] synonym: "thick cutis vera" EXACT [] synonym: "thick dermis" EXACT [] synonym: "thickened corium" EXACT [] synonym: "thickened cutis vera" EXACT [] synonym: "thickened dermal layer" EXACT [] synonym: "thickened dermis" EXACT [] is_a: MP:0001243 ! abnormal dermal layer morphology [Term] id: MP:0001246 name: mixed cellular infiltration to dermis def: "gradual accumulation of mixed cell types in the dermis that are not normally found there" [J:65416] is_a: MP:0001243 ! abnormal dermal layer morphology [Term] id: MP:0001247 name: dermal cyst def: "presence of one or more abnormal membranous sacs in the dermis" [J:53379] synonym: "cystic dermis" EXACT [] synonym: "dermal cysts" EXACT [] is_a: MP:0001243 ! abnormal dermal layer morphology is_a: MP:0031309 ! skin cyst [Term] id: MP:0001248 name: obsolete absent connective tissue def: "OBSOLETE. missing supporting framework of a tissue or the body; formed of fibrous or ground substance" [ISBN:0-683-40008-8, PMID:10469309] synonym: "absence of connective tissue" EXACT [] is_obsolete: true [Term] id: MP:0001249 name: obsolete absent dermal adipose tissue def: "OBSOLETE. missing fat associated with the skin layers" [PMID:7958926] synonym: "absence of dermal adipose tissue" EXACT [] is_obsolete: true consider: MP:0011156 [Term] id: MP:0001251 name: dermis papillary layer hypercellularity def: "increased cell density of the superficial layer" [PMID:10469309] synonym: "hypercellularity of superficial dermis" EXACT [] synonym: "superficial dermis hypercellularity" RELATED [] is_a: MP:0009545 ! abnormal dermis papillary layer morphology [Term] id: MP:0001253 name: abnormal body height def: "any anomaly in the shoulder to floor distance compared to controls" [MGI:dlb] synonym: "abnormal height" EXACT [] xref: GO:0040007 xref: GO:0040014 is_a: MP:0003956 ! abnormal body size [Term] id: MP:0001254 name: increased body height def: "increased shoulder to floor distance compared to controls" [MGI:dlb] synonym: "increased height" EXACT [] is_a: MP:0001253 ! abnormal body height is_a: MP:0001264 ! increased body size [Term] id: MP:0001255 name: decreased body height alt_id: MP:0001269 def: "decreased shoulder to floor distance compared to controls" [MGI:dlb] synonym: "decreased height" EXACT [] synonym: "reduced body height" EXACT [] synonym: "reduced height" EXACT [] synonym: "short stature" EXACT [] is_a: MP:0001253 ! abnormal body height is_a: MP:0001265 ! decreased body size [Term] id: MP:0001256 name: abnormal body length def: "any anomaly in the measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC synonym: "abnormal length" EXACT [] is_a: MP:0003956 ! abnormal body size [Term] id: MP:0001257 name: increased body length def: "increased measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "increased length" EXACT [] is_a: MP:0001256 ! abnormal body length is_a: MP:0001264 ! increased body size [Term] id: MP:0001258 name: decreased body length def: "decreased measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased length" EXACT [] synonym: "reduced body length" EXACT [] synonym: "reduced length" EXACT [] synonym: "short trunk" EXACT [] is_a: MP:0001256 ! abnormal body length is_a: MP:0001265 ! decreased body size [Term] id: MP:0001259 name: abnormal body weight def: "anomaly in average weight compared to controls" [MGI:cwg] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal weight" EXACT [] is_a: MP:0003956 ! abnormal body size [Term] id: MP:0001260 name: increased body weight def: "greater than normal average weight" [J:33400] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "high body weight" EXACT [] synonym: "increased weight" EXACT [] is_a: MP:0001259 ! abnormal body weight is_a: MP:0001264 ! increased body size is_a: MP:0012323 ! increased total tissue mass [Term] id: MP:0001261 name: obese def: "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" [HP:0001513, MESH:D009765] synonym: "obesity" EXACT [] is_a: MP:0001260 ! increased body weight [Term] id: MP:0001262 name: decreased body weight def: "lower than normal average weight" [PMID:10709991] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased weight" EXACT [] synonym: "low body weight" EXACT [] synonym: "reduced body weight" EXACT [] synonym: "reduced weight" EXACT [] is_a: MP:0001259 ! abnormal body weight is_a: MP:0001265 ! decreased body size is_a: MP:0012322 ! decreased total tissue mass [Term] id: MP:0001263 name: weight loss def: "progressive reduction of body weight below normal average for age" [PMID:9420327] comment: This term should be used when weight is lost in the absence of external interventions. is_a: MP:0001262 ! decreased body weight property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4606-0597 [Term] id: MP:0001264 name: increased body size def: "larger than average body weight, height and/or length of an organism compared to controls" [ISBN:0-683-40008-8, PMID:8646780] synonym: "increased size" EXACT [] synonym: "large body size" EXACT [] xref: GO:0040007 xref: GO:0040014 is_a: MP:0003956 ! abnormal body size [Term] id: MP:0001265 name: decreased body size def: "smaller than average body weight, height and/or length of an organism compared to controls" [ISBN:0-683-40008-8, PMID:7854452] synonym: "decreased size" EXACT [] synonym: "dwarf" NARROW [] synonym: "reduced body size" EXACT [] synonym: "reduced size" EXACT [] synonym: "runt" EXACT [] synonym: "runted" EXACT [] synonym: "runting" EXACT [] synonym: "small body size" EXACT [] xref: GO:0040007 xref: GO:0040014 is_a: MP:0003956 ! abnormal body size [Term] id: MP:0001267 name: enlarged chest def: "wider diameter, or distended chest cavity" [PMID:7926784] synonym: "increased chest size" EXACT [] is_a: MP:0004134 ! abnormal chest morphology [Term] id: MP:0001268 name: barrel chest def: "distended circumference of the thoracic and abdominal areas" [PMID:10572046] is_a: MP:0001267 ! enlarged chest [Term] id: MP:0001270 name: distended abdomen def: "abdomen appears curved outward or swollen" [https://orcid.org/0000-0003-3691-0324] subset: IMPC subset: Sanger_Terms synonym: "bulging abdomen" EXACT [] synonym: "protruding abdomen" EXACT [] is_a: MP:0005378 ! growth/size/body region phenotype [Term] id: MP:0001272 name: increased metastatic potential def: "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" [https://orcid.org/0000-0002-6490-7723, https://orcid.org/0000-0003-3691-0324] synonym: "elevated metastatic potential" EXACT [] synonym: "increase in metastasis potential" EXACT [] synonym: "increase in potential to develop metastases" EXACT [] is_a: MP:0000858 ! abnormal metastatic potential [Term] id: MP:0001273 name: decreased metastatic potential def: "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" [https://orcid.org/0000-0002-6490-7723, https://orcid.org/0000-0003-3691-0324] synonym: "reduced metastatic potential" EXACT [] synonym: "reduction in metastasis potential" EXACT [] synonym: "reduction in potential to develop metastases" EXACT [] is_a: MP:0000858 ! abnormal metastatic potential [Term] id: MP:0001274 name: curly vibrissae alt_id: MP:0001275 def: "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" [MESH:A13.950, PMID:9573048] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "curly contour hair" EXACT [] synonym: "curly sinus hair" EXACT [] synonym: "curly touch hair" EXACT [] synonym: "curly whiskers" EXACT [] synonym: "curved vibrissae" EXACT [] synonym: "curved whiskers" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001277 name: tangled vibrissae def: "snarled or intertwined stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors" [https://orcid.org/0000-0003-3691-0324, MESH:A13.950] subset: Europhenome_Terms subset: IMPC synonym: "tangled contour hair" EXACT [] synonym: "tangled sinus hair" EXACT [] synonym: "tangled touch hair" EXACT [] synonym: "tangled whiskers" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001278 name: kinked vibrissae def: "sharp bends in the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors" [J:56641] synonym: "kinked contour hair" EXACT [] synonym: "kinked sinus hair" EXACT [] synonym: "kinked touch hair" EXACT [] synonym: "kinked whiskers" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001279 name: wavy vibrissae def: "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" [https://orcid.org/0000-0003-3691-0324, MESH:A13.950] synonym: "wavy contour hair" EXACT [] synonym: "wavy sinus hair" EXACT [] synonym: "wavy touch hair" EXACT [] synonym: "wavy whiskers" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001280 name: loss of vibrissae def: "inability to retain the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors" [PMID:9420327] synonym: "loss of contour hair" EXACT [] synonym: "loss of sinus hair" EXACT [] synonym: "loss of touch hair" EXACT [] synonym: "loss of whiskers" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001281 name: increased vibrissae length def: "longer average length of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors" [https://orcid.org/0000-0003-3691-0324, MESH:A13.950] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "increased contour hair length" EXACT [] synonym: "increased sinus hair length" EXACT [] synonym: "increased touch hair length" EXACT [] synonym: "increased whisker length" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001282 name: short vibrissae def: "decreased length of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors" [https://orcid.org/0000-0003-3691-0324, MESH:A13.950] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased contour hair length" EXACT [] synonym: "decreased sinus hair length" EXACT [] synonym: "decreased touch hair length" EXACT [] synonym: "decreased whisker length" EXACT [] synonym: "short contour hair" EXACT [] synonym: "short sinus hair" EXACT [] synonym: "short touch hair" EXACT [] synonym: "short whiskers" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001283 name: sparse vibrissae def: "few and widely spaced stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors" [https://orcid.org/0000-0003-3691-0324, MESH:A13.950] synonym: "sparse contour hair" EXACT [] synonym: "sparse sinus hair" EXACT [] synonym: "sparse touch hair" EXACT [] synonym: "sparse whiskers" EXACT [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001284 name: absent vibrissae def: "absence of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors" [https://orcid.org/0000-0003-3691-0324, MESH:A13.950, PMID:7958926] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "absence of vibrissae" EXACT [] synonym: "absence of whiskers" RELATED [] synonym: "absent contour hair" EXACT [] synonym: "absent sinus hair" EXACT [] synonym: "absent touch hair" EXACT [] synonym: "absent whiskers" RELATED [] is_a: MP:0002098 ! abnormal vibrissa morphology [Term] id: MP:0001286 name: abnormal eye development def: "malformation or arrest of differentiation of the visual organ" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:9753320] subset: IMPC subset: Sanger_Terms synonym: "eye development abnormalities" EXACT [] xref: GO:0001654 is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0001288 name: abnormal lens induction def: "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" [GO:0060235] synonym: "lens induction abnormalities" EXACT [] is_a: MP:0005545 ! abnormal lens development [Term] id: MP:0001289 name: persistence of hyaloid vascular system def: "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" [PMID:18841878] subset: IMPC subset: Sanger_Terms synonym: "persistence of hyaloid capillary system" EXACT [] is_a: MP:0001286 ! abnormal eye development is_a: MP:0002699 ! abnormal vitreous body morphology [Term] id: MP:0001290 name: delayed eyelid opening def: "late average time for the first postnatal eye opening" [J:17792] comment: In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later. synonym: "delayed eye lid opening" EXACT [] synonym: "delayed eye opening" EXACT [] is_a: MP:0004874 ! abnormal timing of postnatal eyelid opening [Term] id: MP:0001292 name: abnormal lens vesicle development def: "malformation or abnormal patterning of the ectodermal invagination that forms opposite the optic cup in the primordium of the lens of the eye" [ISBN:0-12-402035-6] synonym: "lens vesicle development abnormalities" EXACT [] synonym: "lenticular vesicle development" RELATED [] is_a: MP:0001288 ! abnormal lens induction [Term] id: MP:0001293 name: anophthalmia alt_id: MP:0001298 def: "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" [https://orcid.org/0000-0003-3691-0324] subset: CvDC_Terms subset: Europhenome_Terms subset: IMPC_Prenatal subset: Sanger_Terms synonym: "absence of eyes" EXACT [] synonym: "absent eyes" EXACT [] synonym: "eyeless" EXACT [] xref: Fyler:4864 is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0001296 name: macrophthalmia def: "increased average size of the eyes" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC synonym: "big eyes" EXACT [] synonym: "enlarged eyes" EXACT [] synonym: "increased eye size" EXACT [] synonym: "macrophthalamos" EXACT [] is_a: MP:0002697 ! abnormal eye size [Term] id: MP:0001297 name: microphthalmia def: "reduced average size of one or both eyes; generally refers to a congenital defect" [PMID:7926784] subset: CvDC_Terms subset: Europhenome_Terms subset: IMPC_Prenatal subset: Sanger_Terms synonym: "decreased eye size" EXACT [] synonym: "microphthalmos" EXACT [] synonym: "small eyes" EXACT [] xref: Fyler:4877 is_a: MP:0002697 ! abnormal eye size [Term] id: MP:0001299 name: abnormal eye distance/ position def: "abnormal placement of the eyes in relation to each other or in relation to other craniofacial structures" [https://orcid.org/0000-0003-3691-0324] synonym: "eye distance/ position abnormalities" EXACT [] is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0001300 name: ocular hypertelorism def: "increased interpupillary distance, i.e. increased distance between the center of the pupils of the two eyes" [HP:0000316, PMID:19125427] synonym: "excessive orbital separation" EXACT [] synonym: "increased distance between the eye sockets" EXACT [] synonym: "increased distance between the eyes" EXACT [] synonym: "increased interorbital distance" EXACT [] synonym: "wide set eyes" EXACT [] synonym: "wide-set eyes" EXACT [] synonym: "widely spaced eyes" EXACT [] synonym: "widened interpupillary distance" EXACT [] is_a: MP:0001299 ! abnormal eye distance/ position [Term] id: MP:0001301 name: obsolete abnormal eye movement def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "eye movement abnormalities" EXACT [] is_obsolete: true consider: MP:0001389 [Term] id: MP:0001302 name: eyelids open at birth alt_id: MP:0001342 def: "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" [MGI:llw2] comment: In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later. synonym: "open eye lids" EXACT [] synonym: "open eyelids" EXACT [] is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0001303 name: abnormal lens morphology def: "any structural anomaly of the transparent structure of the eye responsible for focusing light rays" [ISBN:0-683-40008-8, PMID:9144284] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "lens abnormalities" BROAD [] synonym: "lens dysplasia" EXACT [] is_a: MP:0005193 ! abnormal anterior eye segment morphology [Term] id: MP:0001304 name: cataract def: "complete or partial opacity of the lens" [ISBN:0-683-40008-8] subset: CvDC_Terms subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "cataracts" EXACT [] synonym: "cataracts/ lens opacity" EXACT [] synonym: "lens opacity" EXACT [] xref: Fyler:4865 is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0001305 name: enlarged lens def: "increased size of the transparent structure of the eye responsible for focusing light rays" [ISBN:0-683-40008-8] synonym: "increased lens size" EXACT [] is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0001306 name: small lens def: "reduced size of the transparent structure of the eye responsible for focusing light rays" [ISBN:0-683-40008-8, PMID:9753320] subset: IMPC subset: Sanger_Terms synonym: "decreased lens size" EXACT [] synonym: "microphakia" EXACT [] synonym: "reduced lens size" EXACT [] is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0001307 name: fused cornea and lens alt_id: MP:0001315 def: "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" [ISBN:0-683-40008-8] synonym: "cornea and lens fusion" EXACT [] synonym: "cornea/lens fusion" EXACT [] synonym: "fused cornea/lens" EXACT [] is_a: MP:0001312 ! abnormal cornea morphology is_a: MP:0005545 ! abnormal lens development [Term] id: MP:0001308 name: abnormal lens polarity def: "failure of normal orientation of the lens during development" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:9753320] synonym: "abnormal lens polarization" EXACT [] is_a: MP:0020486 ! abnormal lens topology [Term] id: MP:0001309 name: hydropic eye lens fibers def: "swollen cortical fibers of the eye lens" [J:14285] synonym: "hydropic eye lens fibres" EXACT [] is_a: MP:0002840 ! abnormal lens fiber morphology [Term] id: MP:0001310 name: abnormal conjunctiva morphology def: "any structural anomaly of the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball" [https://orcid.org/0000-0003-3691-0324, MESH:A09.371.060.200] synonym: "conjunctiva abnormalities" BROAD [] synonym: "conjunctival dysplasia" EXACT [] is_a: MP:0005193 ! abnormal anterior eye segment morphology is_a: MP:0013754 ! abnormal ocular surface morphology [Term] id: MP:0001312 name: abnormal cornea morphology def: "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" [ISBN:0-683-40008-8, UBERON:0000964] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal cornea of camera-type eye morphology" BROAD [] synonym: "abnormal corneal morphology" EXACT [] synonym: "abnormal tarsal conjunctiva morphology" EXACT [] synonym: "abnormal tunica cornea morphology" EXACT [] synonym: "cornea abnormalities" BROAD [] synonym: "corneal dysplasia" EXACT [] is_a: MP:0005193 ! abnormal anterior eye segment morphology [Term] id: MP:0001313 name: increased incidence of corneal inflammation def: "greater than average occurrence and/or persistence of the local accumulation of fluid, plasma proteins, and leukocytes in the cornea" [https://orcid.org/0000-0003-3691-0324] synonym: "increased incidence of keratitis" BROAD [] synonym: "increased incidence of tunica cornea inflammation" EXACT [] is_a: MP:0001851 ! eye inflammation [Term] id: MP:0001314 name: cornea opacity def: "complete or partial clouding of the cornea" [ISBN:0-683-40008-8, MGI:jte] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "corneal opacity" EXACT [] synonym: "tunica cornea opacity" EXACT [] is_a: MP:0001312 ! abnormal cornea morphology [Term] id: MP:0001316 name: cornea scarring def: "appearance of fibrous tissue on the cornea after healing in response to injury" [J:30249] synonym: "corneal scarring" EXACT [] synonym: "tunica cornea scarring" EXACT [] is_a: MP:0001312 ! abnormal cornea morphology [Term] id: MP:0001317 name: abnormal pupil morphology def: "any structural anomaly of the central circular aperture of the iris through which light rays enter the eye" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "pupil abnormalities" BROAD [] synonym: "pupil dysplasia" EXACT [] is_a: MP:0001322 ! abnormal iris morphology [Term] id: MP:0001318 name: pupil opacity def: "milky or cloudy appearance of the central circular aperture of the iris through which light rays normally enter the eye" [ISBN:0-683-40008-8] is_a: MP:0001317 ! abnormal pupil morphology [Term] id: MP:0001319 name: irregularly shaped pupil def: "shape defects in the aperture of the iris through which light rays enter the eye, usually circular" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC is_a: MP:0001317 ! abnormal pupil morphology [Term] id: MP:0001320 name: small pupil def: "smaller than normal size of the central circular aperture of the iris through which light rays enter the eye" [ISBN:0-683-40008-8] synonym: "decreased pupil size" EXACT [] synonym: "reduced pupil size" EXACT [] synonym: "small pupils" EXACT [] is_a: MP:0001317 ! abnormal pupil morphology [Term] id: MP:0001322 name: abnormal iris morphology alt_id: MP:0006227 def: "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" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "iris abnormalities" BROAD [] synonym: "iris dysplasia" EXACT [] is_a: MP:0005194 ! abnormal anterior uvea morphology [Term] id: MP:0001323 name: obsolete iris opacity def: "OBSOLETE. milky or cloudy iris that is impervious to light" [ISBN:0-683-40008-8] is_obsolete: true [Term] id: MP:0001324 name: abnormal eye pigmentation def: "change in the normal pigmentation of the eye to another color, or lack of color" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal eye color" NARROW [] synonym: "abnormal eye colour" NARROW [] synonym: "abnormal ocular pigmentation" EXACT [] is_a: MP:0002092 ! abnormal eye morphology is_a: MP:0009389 ! abnormal extracutaneous pigmentation [Term] id: MP:0001325 name: abnormal retina morphology def: "any structural anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors" [MGI:cwg] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal retinal morphology" EXACT [] synonym: "retina abnormalities" BROAD [] synonym: "retina dysplasia" EXACT [] synonym: "retinal abnormalities" BROAD [] synonym: "retinal dysplasia" EXACT [] is_a: MP:0002864 ! abnormal ocular fundus morphology [Term] id: MP:0001326 name: retina degeneration def: "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" [ISBN:0-683-40008-8, MGI:pretel] subset: Europhenome_Terms subset: IMPC synonym: "retinal degeneration" EXACT [] is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0001327 name: decreased retina photoreceptor cell number def: "fewer than the expected number of rods and/or cones" [MGI:cwg] synonym: "decreased retinal photoreceptor cell number" EXACT [] synonym: "reduced number of retinal photoreceptor cells" EXACT [] synonym: "reduced retina photoreceptor cell number" EXACT [] synonym: "reduced retinal photoreceptor cell number" EXACT [] is_a: MP:0000966 ! decreased sensory neuron number is_a: MP:0001004 ! abnormal retina photoreceptor morphology [Term] id: MP:0001328 name: disorganized retina layers def: "derangement of the pattern of the sheets of cells comprising the optic part of the retina" [https://orcid.org/0000-0003-4606-0597] subset: IMPC subset: Sanger_Terms synonym: "disorganised retinal layers" EXACT [] is_a: MP:0003727 ! abnormal retina layer morphology [Term] id: MP:0001329 name: retina hyperplasia def: "increase in the number of normal cells in normal arrangement in the retina, typically resulting in increased size" [ISBN:0-683-40008-8] synonym: "hyperplastic retina" EXACT [] synonym: "retinal hyperplasia" EXACT [] is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0001330 name: abnormal optic nerve morphology alt_id: MP:0001058 alt_id: MP:0001287 def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal CN-II morphology" EXACT [] synonym: "abnormal optic II nerve morphology" EXACT [] synonym: "optic nerve abnormalities" BROAD [] synonym: "optic nerve dysplasia" EXACT [] is_a: MP:0001056 ! abnormal cranial nerve morphology is_a: MP:0005195 ! abnormal posterior eye segment morphology [Term] id: MP:0001332 name: abnormal optic nerve innervation alt_id: MP:0001060 def: "misprojection or aberrant target finding of the second cranial nerve which is responsible for conveying visual information from the retina to the brain" [https://orcid.org/0000-0003-3691-0324] synonym: "optic nerve innervation abnormalities" EXACT [] is_a: MP:0000968 ! abnormal sensory neuron innervation pattern is_a: MP:0001330 ! abnormal optic nerve morphology [Term] id: MP:0001333 name: absent optic nerve def: "absence of the second cranial nerve which is responsible for conveying visual information from the retina to the brain" [https://orcid.org/0000-0003-3691-0324] synonym: "absent CN-II nerve" EXACT [] synonym: "absent optic II nerve" EXACT [] is_a: MP:0001330 ! abnormal optic nerve morphology [Term] id: MP:0001334 name: absent optic tract def: "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" [ISBN:0-683-40008-8] is_a: MP:0004267 ! abnormal optic tract morphology [Term] id: MP:0001335 name: obsolete Subject to Infection def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001336 name: obsolete increased incidence of inflamed eyes def: "OBSOLETE. greater than normal frequency of inflammatory response in the eyes" [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0001851 [Term] id: MP:0001337 name: dry eyes def: "absence of natural or normal moisture in the eye" [J:53284] synonym: "xerophthalmia" EXACT [] is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0001340 name: abnormal eyelid morphology def: "any structural anomaly of the skin folds covering the front of the eyeball" [https://orcid.org/0000-0003-3691-0324] subset: IMPC subset: Sanger_Terms synonym: "abnormal blephara morphology" EXACT [] synonym: "abnormal blepharon morphology" EXACT [] synonym: "abnormal eye lid morphology" EXACT [] synonym: "abnormal eyelids morphology" EXACT [] synonym: "abnormal palpebra morphology" EXACT [] synonym: "abnormal palpebrae morphology" EXACT [] synonym: "eyelid abnormalities" BROAD [] synonym: "eyelid dysplasia" EXACT [] is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0001341 name: absent eyelids def: "missing skin folds covering the front of the eyeball when closed" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC synonym: "ablepharia" EXACT [] synonym: "ablepharon" EXACT [] synonym: "absent blephara" EXACT [] synonym: "absent blepharon" EXACT [] synonym: "absent eye lids" EXACT [] synonym: "absent palpebra" EXACT [] synonym: "absent palpebrae" EXACT [] synonym: "eyelid agenesis" EXACT [] synonym: "eyelid aplasia" EXACT [] synonym: "missing eyelids" EXACT [] is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0001343 name: pronounced eyelids def: "strongly protruding eyelids" [J:65032] synonym: "bulgy eyelids" EXACT [] synonym: "pronounced eye lids" EXACT [] synonym: "protruding eyelids" EXACT [] is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0001344 name: blepharoptosis alt_id: MP:0006161 def: "ptosis, drooping eyelids" [ISBN:0-683-40008-8] synonym: "drooping eye lids" EXACT [] synonym: "drooping eyelids" EXACT [] synonym: "palpebraoptosis" EXACT [] synonym: "ptosis" EXACT [] synonym: "ptosis of the eye" EXACT [] is_a: MP:0001340 ! abnormal eyelid morphology [Term] id: MP:0001345 name: Meibomian gland atrophy alt_id: MP:0000651 def: "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" [https://orcid.org/0000-0003-3691-0324, PMID:8941642] synonym: "atrophic glandulae tarsales" EXACT [] synonym: "atrophic meibomian glands" EXACT [] synonym: "atrophic palpebral glands" EXACT [] synonym: "atrophic tarsal glands" EXACT [] is_a: MP:0013388 ! small Meibomian gland [Term] id: MP:0001346 name: abnormal lacrimal gland morphology alt_id: MP:0000682 def: "any structural anomaly of the glands that secrete tears" [ISBN:0-683-40008-8, MGI:tc] synonym: "abnormal lachrymal glands morphology" EXACT [] synonym: "lacrimal gland dysplasia" EXACT [] is_a: MP:0008968 ! abnormal lacrimal apparatus morphology is_a: MP:0013558 ! abnormal exocrine gland morphology [Term] id: MP:0001347 name: absent lacrimal glands alt_id: MP:0000684 def: "missing the glands that secrete tears" [ISBN:0-683-40008-8, MGI:tc] synonym: "absence of lachrymal glands" EXACT [] synonym: "absence of lacrimal glands" EXACT [] synonym: "lacrimal gland aplasia" EXACT [] synonym: "loss of lachrymal glands" BROAD [] synonym: "loss of lacrimal glands" BROAD [] is_a: MP:0001346 ! abnormal lacrimal gland morphology [Term] id: MP:0001348 name: abnormal lacrimal gland physiology def: "any functional anomaly of the glands that secrete tears" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC is_a: MP:0013450 ! abnormal lacrimal apparatus physiology is_a: MP:0013559 ! abnormal exocrine gland physiology [Term] id: MP:0001349 name: excessive tearing def: "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" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "epiphora" EXACT [] synonym: "excessive lachrymation" EXACT [] synonym: "excessive lacrimation" EXACT [] synonym: "lacrimous eye" NARROW [] synonym: "watering eye" EXACT [] is_a: MP:0020218 ! abnormal tear production [Term] id: MP:0001353 name: increased aggression towards mice def: "when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward other mice" [ISBN:0-395-70869-9, ISBN:0-683-40008-8] synonym: "aggression to other mice" EXACT [] synonym: "increased aggression to other mice" EXACT [] is_a: MP:0005655 ! increased aggression is_a: MP:0021115 ! abnormal aggression towards conspecific [Term] id: MP:0001354 name: increased aggression towards male mice def: "when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward male mice" [ISBN:0-395-70869-9, ISBN:0-683-40008-8] synonym: "aggression towards males" EXACT [] is_a: MP:0001353 ! increased aggression towards mice [Term] id: MP:0001355 name: submission towards male mice def: "no domineering, assault posture nor hostile physical action toward male mice" [ISBN:0-395-70869-9, ISBN:0-683-40008-8, PMID:10716451] synonym: "lack of aggression towards males" EXACT [] is_a: MP:0002557 ! abnormal social/conspecific interaction behavior is_a: MP:0005656 ! decreased aggression [Term] id: MP:0001356 name: increased aggression towards female mice def: "when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward female mice" [ISBN:0-395-70869-9, ISBN:0-683-40008-8] synonym: "aggression towards females" EXACT [] is_a: MP:0001353 ! increased aggression towards mice [Term] id: MP:0001357 name: increased aggression towards humans def: "when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward humans" [ISBN:0-395-70869-9, ISBN:0-683-40008-8] synonym: "aggression to humans" EXACT [] synonym: "increased aggression to humans" EXACT [] is_a: MP:0005655 ! increased aggression [Term] id: MP:0001358 name: aggression towards inanimate objects def: "a domineering, assault posture and/or hostile physical action toward inanimate objects" [ISBN:0-395-70869-9, ISBN:0-683-40008-8] subset: IMPC subset: Sanger_Terms synonym: "aggression to inanimate objects" EXACT [] is_a: MP:0005655 ! increased aggression [Term] id: MP:0001359 name: obsolete piling def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001360 name: abnormal social investigation def: "altered behavior of animals to approach and examine conspecifics" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002557 ! abnormal social/conspecific interaction behavior [Term] id: MP:0001361 name: social withdrawal def: "reclusive behavior; the tendency to refrain from participating in social situations and to seek isolation" [https://orcid.org/0000-0003-3691-0324] comment: In mice, one sign of this phenotype is that animals will remain physically distant, and do not sleep in piles with cagemates. is_a: MP:0021111 ! decreased social investigation [Term] id: MP:0001362 name: abnormal anxiety-related response def: "altered emotional response related to anticipation of a non-specific threat" [https://orcid.org/0000-0003-3691-0324, MGI:CFG] subset: Europhenome_Terms subset: IMPC synonym: "abnormal anxiety response" EXACT [] synonym: "altered anxiety response" EXACT [] is_a: MP:0002065 ! abnormal fear/anxiety-related behavior [Term] id: MP:0001363 name: increased anxiety-related response def: "when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests" [MGI:cwg] synonym: "elevated anxiety" EXACT [] synonym: "increased anxiety" EXACT [] is_a: MP:0001362 ! abnormal anxiety-related response [Term] id: MP:0001364 name: decreased anxiety-related response alt_id: MP:0001367 alt_id: MP:0001368 alt_id: MP:0002197 def: "when compared to controls, subjects exhibit fewer responses thought to be indicative of anxiety in behavioral tests" [MGI:cwg] synonym: "decreased anxiety" EXACT [] synonym: "reduced anxiety" EXACT [] synonym: "reduced anxiety in dark-light crossing task" EXACT [] synonym: "reduced anxiety in elevated plus maze test" EXACT [] synonym: "reduced anxiety in elevated zero maze test" EXACT [] is_a: MP:0001362 ! abnormal anxiety-related response [Term] id: MP:0001365 name: obsolete increased escape behavior induced by intruder mouse def: "OBSOLETE. resident animals exhibit escape behavior and do not initiate social investigation of an intruder mouse" [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001366 name: obsolete impaired stress response in porsolt forced swin test def: "OBSOLETE. reduced freezing behavior resulting from failed escape attempts induced by forced swim in a small cylinder" [https://orcid.org/0000-0003-3691-0324, ISBN:0-471-31639-3, PMID:10471508] is_obsolete: true [Term] id: MP:0001373 name: obsolete Increased Fecundity def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001375 name: abnormal mating preference def: "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" [J:76339] is_a: MP:0002566 ! abnormal sexual interaction [Term] id: MP:0001376 name: abnormal mating receptivity def: "deviation from the normal cycle or inability of females to respond favorably to males that initiate sexual behavior" [J:51468] synonym: "abnormal lordosis behavior" EXACT [] is_a: MP:0002566 ! abnormal sexual interaction [Term] id: MP:0001377 name: abnormal mating frequency def: "increased, reduced or absent attempt of sexual behavioral contact between an initiating organism and a receptive partner" [MESH:F01.145.113.252.748.200] synonym: "abnormal coitus frequency" EXACT [] synonym: "abnormal copulation frequency" BROAD [] is_a: MP:0002566 ! abnormal sexual interaction [Term] id: MP:0001378 name: abnormal ejaculation def: "anomalies in the ability to propulse semen from the genital ducts and the urethra to the exterior" [ISBN:0-683-40008-8] is_a: MP:0003698 ! abnormal male reproductive system physiology [Term] id: MP:0001379 name: abnormal penile erection def: "altered ability to achieve a rigid state of the penis obtained in the condition in which the erectile tissue is filled with blood" [ISBN:0-683-40008-8] is_a: MP:0003698 ! abnormal male reproductive system physiology is_a: MP:0031627 ! abnormal copulation physiology [Term] id: MP:0001380 name: reduced male mating frequency def: "males do not as frequently initiate sexual behavior (as scored by the presence of copulation plugs in rodents, not due to infertility)" [J:57125] synonym: "male reduced copulation" RELATED [] synonym: "male reduced copulation without impotence" RELATED [] synonym: "male sexual dysfunction, without impotence" RELATED [] is_a: MP:0001377 ! abnormal mating frequency [Term] id: MP:0001382 name: abnormal nursing def: "females show anomlies in the feeding of offspring from mammary glands, or do not nurse offspring, or nurse offspring infrequently" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0001386 ! abnormal maternal nurturing [Term] id: MP:0001384 name: abnormal pup retrieval def: "any anomaly in the ability of a nesting female to retrieve stray pups to the nest or a delay in retrieving stray pups" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0009731 ! abnormal offspring retrieval [Term] id: MP:0001385 name: pup cannibalization def: "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" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0001386 ! abnormal maternal nurturing [Term] id: MP:0001386 name: abnormal maternal nurturing alt_id: MP:0001381 def: "anomaly in the behaviors related to a female tending to young" [https://orcid.org/0000-0003-4606-0597] synonym: "abnormal care for newborns" EXACT [] synonym: "maternal nurturing defect" EXACT [] is_a: MP:0008779 ! abnormal maternal behavior [Term] id: MP:0001387 name: obsolete abnormal movement/ locomotion def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "movement/ locomotion abnormalities" EXACT [] is_obsolete: true consider: MP:0002066 [Term] id: MP:0001388 name: abnormal stationary movement def: "altered ability or inability to change body posture or shift a body part" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal body part movement" EXACT [] synonym: "stationary movement abnormalities" EXACT [] is_a: MP:0002066 ! abnormal motor capabilities/coordination/movement [Term] id: MP:0001389 name: abnormal eye movement def: "deviation from the normal motility of the visual organs" [MGI:cwg] is_a: MP:0001388 ! abnormal stationary movement is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0001391 name: abnormal tail movements alt_id: MP:0000590 def: "a change from the normal manner of moving the tail" [MGI:cwg] subset: Europhenome_Terms subset: IMPC is_a: MP:0001388 ! abnormal stationary movement [Term] id: MP:0001392 name: abnormal locomotor behavior def: "altered ability or inability to move from place to place in response to stimuli" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal locomotion" EXACT [] synonym: "abnormal locomotor activity" EXACT [] synonym: "abnormal locomotor behaviour" EXACT [] synonym: "abnormal locomotory behavior" EXACT [] synonym: "abnormal locomotory behaviour" EXACT [] is_a: MP:0003491 ! abnormal voluntary movement [Term] id: MP:0001393 name: ataxia def: "inability to coordinate voluntary muscular movements" [ISBN:0-683-40008-8] synonym: "unsteady gait" RELATED [] is_a: MP:0001516 ! abnormal motor coordination/balance is_a: MP:0003312 ! abnormal locomotor coordination [Term] id: MP:0001394 name: circling def: "repeated movement in a circle; often associated with inner ear defects" [https://orcid.org/0000-0003-3691-0324, PMID:10709991] subset: IMPC subset: Sanger_Terms is_a: MP:0001408 ! stereotypic behavior [Term] id: MP:0001395 name: bidirectional circling def: "circling behavior exhibited in both clockwise and counterclockwise directions" [MGI:cml] is_a: MP:0001394 ! circling [Term] id: MP:0001396 name: unidirectional circling def: "circling behavior in one direction only, either clockwise or counterclockwise" [https://orcid.org/0000-0002-0371-1954] is_a: MP:0001394 ! circling [Term] id: MP:0001398 name: obsolete backflips def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001399 name: hyperactivity alt_id: MP:0001397 alt_id: MP:0001403 def: "general restlessness or excessive movement; more frequent movement from one place to another or having an increased state of activity" [ISBN:0-683-40008-8] subset: IMPC subset: Sanger_Terms synonym: "hyperactive" EXACT [] synonym: "increased physical activity" EXACT [] synonym: "restless" RELATED [] is_a: MP:0003491 ! abnormal voluntary movement [Term] id: MP:0001400 name: hyperresponsive def: "increased reaction to touch" [J:39801] subset: Europhenome_Terms subset: IMPC is_a: MP:0002067 ! abnormal sensory capabilities/reflexes/nociception [Term] id: MP:0001401 name: jumpy def: "marked by fitful, jerky movements" [J:22295] is_a: MP:0001516 ! abnormal motor coordination/balance [Term] id: MP:0001402 name: decreased locomotor activity alt_id: MP:0001419 def: "general reduction in locomotor activity; reduced movement from one place to another" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased spontaneous locomotor activity" EXACT [] synonym: "hypolocomotion" EXACT [] synonym: "low spontaneous locomotor activity" EXACT [] synonym: "reduced activity in horizontal open field test" NARROW [] synonym: "reduced locomotor activity" EXACT [] is_a: MP:0001392 ! abnormal locomotor behavior is_a: MP:0031392 ! hypoactivity [Term] id: MP:0001404 name: no spontaneous movement def: "failure of neonates or embryos to initiate any voluntary or spontaneous change in position or posture, with or without external stimulus" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: IMPC_Prenatal synonym: "failure to move" EXACT [] is_a: MP:0002066 ! abnormal motor capabilities/coordination/movement [Term] id: MP:0001405 name: impaired coordination alt_id: MP:0001517 alt_id: MP:0001518 alt_id: MP:0001519 alt_id: MP:0001520 alt_id: MP:0001521 def: "reduced ability to execute integrated movements of muscle" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "impaired motor coordination" EXACT [] synonym: "impaired motor coordination in balance beam test" NARROW [] synonym: "impaired motor coordination in hanging wire test" NARROW [] synonym: "impaired motor coordination in platform test" NARROW [] synonym: "impaired motor coordination in rotarod test" NARROW [] synonym: "impaired motor coordination in thin rod test" NARROW [] is_a: MP:0001516 ! abnormal motor coordination/balance [Term] id: MP:0001406 name: abnormal gait def: "abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground" [https://orcid.org/0000-0003-4606-0597] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal ambulation" EXACT [] synonym: "peculiar gait" EXACT [] is_a: MP:0003312 ! abnormal locomotor coordination [Term] id: MP:0001407 name: short stride length def: "reduced average distance between steps" [J:34193] is_a: MP:0012690 ! abnormal stride length [Term] id: MP:0001408 name: stereotypic behavior def: "repetitive, invariant, perseverative motor patterns that do not appear to be purposeful" [ISBN:0-471-31639-3] subset: IMPC subset: Sanger_Terms synonym: "stereotypic behaviour" EXACT [] is_a: MP:0002066 ! abnormal motor capabilities/coordination/movement [Term] id: MP:0001409 name: increased stereotypic behavior def: "more frequent incidence of repetitive, invariant, perseverative motor patterns that do not appear to be purposeful" [https://orcid.org/0000-0003-3691-0324, ISBN:0-471-31639-3] synonym: "increased stereotypic behaviour" EXACT [] is_a: MP:0001408 ! stereotypic behavior [Term] id: MP:0001410 name: head bobbing def: "repetitive up and down movement of the head" [J:17123] synonym: "head nodding" EXACT [] is_a: MP:0000436 ! abnormal head movements is_a: MP:0001408 ! stereotypic behavior [Term] id: MP:0001411 name: spinning def: "repetitive rolling of the body" [J:17123] is_a: MP:0001408 ! stereotypic behavior [Term] id: MP:0001412 name: excessive scratching def: "compulsive scraping of the skin, usually with the nails" [J:61340] subset: IMPC subset: Sanger_Terms is_a: MP:0001408 ! stereotypic behavior is_a: MP:0001440 ! abnormal grooming behavior [Term] id: MP:0001413 name: abnormal response to new environment def: "altered behavioral reaction associated with placing an animal in a new location" [MGI:CFG] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal transfer arousal" EXACT [] synonym: "transfer arousal" EXACT [] is_a: MP:0002063 ! abnormal learning/memory/conditioning is_a: MP:0003107 ! abnormal response to novelty [Term] id: MP:0001414 name: obsolete Increased Response to New Environment def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001415 name: increased exploration in new environment def: "greater amount of time spent investigating new location" [J:28825] subset: Europhenome_Terms subset: IMPC is_a: MP:0013189 ! abnormal exploration in a new environment [Term] id: MP:0001416 name: obsolete Decreased Response to New Environment def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001417 name: decreased exploration in new environment def: "less amount of time spent investigating a new location" [ISBN:0471316393] subset: Europhenome_Terms subset: IMPC synonym: "neophobia" EXACT [] synonym: "reduced exploration in new environment" EXACT [] is_a: MP:0013189 ! abnormal exploration in a new environment [Term] id: MP:0001418 name: obsolete open field locomotion abnormalities def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001421 name: obsolete touch escape def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001422 name: abnormal drinking behavior alt_id: MP:0003911 alt_id: MP:0003912 def: "an altered pattern of fluid consumption or altered preference for particular fluids" [https://orcid.org/0000-0003-3691-0324] subset: IMPC subset: Sanger_Terms synonym: "abnormal drinking behaviour" EXACT [] is_a: MP:0002069 ! abnormal consumption behavior [Term] id: MP:0001423 name: abnormal liquid preference def: "the desire to drink more or less fluids than average, or to drink unusual fluids" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0001422 ! abnormal drinking behavior [Term] id: MP:0001424 name: obsolete abnormal water consumption def: "OBSOLETE. drinking water in anomalous quantities" [MGI:cwg] is_obsolete: true consider: MP:0001422 [Term] id: MP:0001425 name: abnormal alcohol consumption def: "aberrant behavioral-related or physiological-related intake of alcohol into the body" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal ethanol consumption" EXACT [] is_a: MP:0001422 ! abnormal drinking behavior is_a: MP:0009745 ! abnormal behavioral response to xenobiotic [Term] id: MP:0001426 name: polydipsia def: "abnormally large intake of fluids by mouth, usually due to excessive thirst that is relatively prolonged" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "excessive drinking" EXACT [] synonym: "increased drinking" EXACT [] synonym: "polydypsia" EXACT [] is_a: MP:0011941 ! increased fluid intake [Term] id: MP:0001428 name: adipsia alt_id: MP:0001427 def: "failure to drink" [ISBN:0-683-40008-8] is_a: MP:0001422 ! abnormal drinking behavior [Term] id: MP:0001429 name: dehydration def: "excessive water loss from the body or from an organ or bodily part" [ISBN:0-683-40008-8, PMID:9744866] is_a: MP:0001784 ! abnormal fluid regulation [Term] id: MP:0001431 name: abnormal eating behavior alt_id: MP:0001430 alt_id: MP:0003909 alt_id: MP:0003910 def: "altered ability to consume foods or atypical consumption pattern" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal eating behaviour" EXACT [] synonym: "abnormal feeding" EXACT [] synonym: "abnormal feeding behavior" EXACT [] synonym: "abnormal feeding behaviour" EXACT [] is_a: MP:0002069 ! abnormal consumption behavior [Term] id: MP:0001432 name: abnormal food preference def: "the desire to eat more or less food than average, or to eat unusual foods" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0001431 ! abnormal eating behavior [Term] id: MP:0001433 name: polyphagia def: "eating to excess" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC synonym: "hyperphagia" EXACT [] synonym: "over eating" EXACT [] is_a: MP:0011939 ! increased food intake [Term] id: MP:0001435 name: absent suckling reflex def: "inability to orient and open/close mouth in sucking pattern in response to external light touching or stroking of the chin" [J:56847] synonym: "absent rooting reflex" EXACT [] synonym: "absent rooting response" EXACT [] synonym: "no suckling reflex" EXACT [] is_a: MP:0020863 ! abnormal suckling reflex [Term] id: MP:0001436 name: abnormal suckling behavior def: "reduced ability or inability to exert suction by the mouth, or atypical suckling pattern" [J:16461] synonym: "abnormal sucking behavior" EXACT [] synonym: "abnormal sucking behaviour" EXACT [] synonym: "abnormal suckling behaviour" EXACT [] is_a: MP:0001431 ! abnormal eating behavior [Term] id: MP:0001437 name: no swallowing reflex def: "inability to pull food through the esophagus to the stomach in response to feeding" [J:56847] is_a: MP:0001436 ! abnormal suckling behavior [Term] id: MP:0001438 name: aphagia alt_id: MP:0001434 def: "failure to eat" [ISBN:0-683-40008-8] is_a: MP:0005449 ! abnormal food intake [Term] id: MP:0001440 name: abnormal grooming behavior alt_id: MP:0001439 def: "defects in the standard of behavior of cleaning and/or keeping outward appearance tidy (self, mate or offspring)" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal grooming" EXACT [] synonym: "abnormal grooming behaviour" EXACT [] is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0001441 name: increased grooming behavior def: "increased amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring)" [https://orcid.org/0000-0003-3691-0324] synonym: "increased grooming behaviour" EXACT [] is_a: MP:0001440 ! abnormal grooming behavior [Term] id: MP:0001442 name: decreased grooming behavior def: "reduced amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring)" [https://orcid.org/0000-0003-3691-0324] synonym: "decreased grooming behaviour" EXACT [] synonym: "reduced grooming behavior" EXACT [] synonym: "reduced grooming behaviour" EXACT [] is_a: MP:0001440 ! abnormal grooming behavior [Term] id: MP:0001443 name: poor grooming def: "below average standard of cleaning and/or keeping outward appearance tidy (self, mate or offspring)" [https://orcid.org/0000-0003-3691-0324, J:30404] is_a: MP:0001440 ! abnormal grooming behavior [Term] id: MP:0001444 name: obsolete compulsive biting def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001445 name: obsolete compulsive licking def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001446 name: abnormal whisker trimming behavior def: "anomaly in the behavior of plucking or biting off of the whiskers/vibrissae from other individuals of a cohort" [https://orcid.org/0000-0003-3691-0324, MGI:il, PMID:16236465] comment: This is a rodent-specific behavior. Whisker trimming and barbering are either normal or abnormal depending on the mouse strain. Barbering is particularly common in C57BL/6 and A2G but nearly unseen in other strains. This term should always be used in relation to the control and strain should be specified. synonym: "abnormal whisker trimming behaviour" EXACT [] is_a: MP:0011000 ! abnormal allogrooming behavior [Term] id: MP:0001447 name: abnormal nest building behavior def: "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" [ISBN:0-471-31639-3] synonym: "abnormal nest building behaviour" EXACT [] is_a: MP:0002068 ! abnormal parental behavior [Term] id: MP:0001448 name: obsolete abnormal mouse huddling behavior def: "OBSOLETE:any anomaly in the the usual tendency of mice to pile together when sleeping" [ISBN:0-471-31639-3] synonym: "abnormal huddling behaviour" EXACT [] is_obsolete: true replaced_by: MP:0021117 [Term] id: MP:0001450 name: obsolete Altered Intelligence def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001451 name: obsolete Decreased Intelligence def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001452 name: obsolete Increased Intelligence def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001454 name: abnormal cued conditioning behavior alt_id: MP:0001453 def: "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)" [MGI:CFG] synonym: "abnormal context-trace conditioning" EXACT [] synonym: "abnormal cued conditioning behaviour" EXACT [] synonym: "cued conditioning anomalies" EXACT [] synonym: "cued fear conditioning abnormalities" EXACT [] synonym: "fear conditioning abnormalities" EXACT [] is_a: MP:0002062 ! abnormal associative learning [Term] id: MP:0001455 name: obsolete normal cued fear conditioning def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001456 name: obsolete impaired long term memory in cued fear conditioning test def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-471-31639-3, PMID:9949198] is_obsolete: true consider: MP:0001454 consider: MP:0002063 [Term] id: MP:0001457 name: obsolete impaired long term memory in contextual fear test def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-471-31639-3] is_obsolete: true consider: MP:0001469 consider: MP:0002063 [Term] id: MP:0001458 name: abnormal object recognition memory def: "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" [MGI:CFG] synonym: "object recognition memory abnormalities" EXACT [] is_a: MP:0002063 ! abnormal learning/memory/conditioning [Term] id: MP:0001459 name: obsolete impaired memory in novel object recognition test def: "OBSOLETE. reduced time spent exploring a novel object that replaced a training object after a specified retention time" [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0001458 [Term] id: MP:0001460 name: abnormal olfactory discrimination memory def: "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" [MGI:CFG] synonym: "olfactory discrimination memory abnormalities" EXACT [] is_a: MP:0002802 ! abnormal discrimination learning [Term] id: MP:0001461 name: obsolete impaired memory in olfactory discrimination test def: "OBSOLETE. reduced food preference based on food recently smelled on the breath of other individuals" [ISBN:0-471-31639-3] is_obsolete: true consider: MP:0001460 [Term] id: MP:0001462 name: abnormal avoidance learning behavior def: "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" [MGI:CFG] synonym: "abnormal avoidance learning behaviour" EXACT [] synonym: "avoidance learning anomalies" EXACT [] is_a: MP:0002062 ! abnormal associative learning [Term] id: MP:0001463 name: abnormal spatial learning alt_id: MP:0001466 alt_id: MP:0001467 def: "anomaly in the ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues" [https://orcid.org/0000-0003-3691-0324, MGI:CFG] synonym: "spatial learning abnormalities" EXACT [] is_a: MP:0002063 ! abnormal learning/memory/conditioning [Term] id: MP:0001464 name: obsolete impaired learning in eight arm radial maze test def: "OBSOLETE. reduced ability to remember a sequence of previously visited feeding sites in an eight arm maze" [ISBN:0-471-31639-3] is_obsolete: true consider: MP:0008414 consider: MP:0008428 [Term] id: MP:0001465 name: obsolete morris water maze def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001468 name: abnormal temporal memory def: "anomaly in the ability to recall temporal events and stimuli" [MGI:CFG] synonym: "temporal memory abnormalities" EXACT [] is_a: MP:0002063 ! abnormal learning/memory/conditioning [Term] id: MP:0001469 name: abnormal contextual conditioning behavior def: "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)" [MGI:CFG] synonym: "abnormal contextual conditioning behaviour" EXACT [] synonym: "abnormal contextual fear conditioning" EXACT [] synonym: "contextual conditioning anomalies" EXACT [] synonym: "contextual fear conditioning abnormalities" EXACT [] is_a: MP:0001468 ! abnormal temporal memory is_a: MP:0002062 ! abnormal associative learning [Term] id: MP:0001470 name: obsolete impaired long term memory in step-down avoidance test def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0001469 [Term] id: MP:0001471 name: obsolete large place fields def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001473 name: reduced long-term potentiation def: "less than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells" [ISBN:0838580343] synonym: "deficient long term potentiation" EXACT [] synonym: "deficient LTP" EXACT [] synonym: "reduced long term potentiation" EXACT [] is_a: MP:0002207 ! abnormal long-term potentiation [Term] id: MP:0001475 name: reduced long-term depression def: "less than the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of CA1 neurons" [https://orcid.org/0000-0003-3691-0324, ISBN:0838580343] synonym: "deficient long term depression" EXACT [] synonym: "deficient LTD" EXACT [] synonym: "reduced long term depression" EXACT [] is_a: MP:0001898 ! abnormal long-term depression [Term] id: MP:0001482 name: obsolete Increased Pupil Restriction def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001483 name: obsolete Decreased Pupil Restriction def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001485 name: abnormal pinna reflex alt_id: MP:0001962 def: "anomaly in the response to an auditory stimulus by a characteristic ear twitch" [PMID:11583390] subset: Europhenome_Terms subset: IMPC synonym: "abnormal ear twitch response" EXACT [] synonym: "abnormal Preyer's reflex" EXACT [] is_a: MP:0001961 ! abnormal reflex [Term] id: MP:0001486 name: abnormal startle reflex def: "aberrant threshold or reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [https://orcid.org/0000-0003-3691-0324, ISBN:0-471-31639-3] subset: Europhenome_Terms subset: IMPC is_a: MP:0001961 ! abnormal reflex [Term] id: MP:0001488 name: increased startle reflex alt_id: MP:0001487 def: "reduced threshold or more severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [https://orcid.org/0000-0003-3691-0324, ISBN:0-471-31639-3] subset: Europhenome_Terms subset: IMPC synonym: "increased startle response in acoustic startle test" EXACT [] is_a: MP:0001486 ! abnormal startle reflex [Term] id: MP:0001489 name: decreased startle reflex def: "greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [https://orcid.org/0000-0003-3691-0324, ISBN:0-471-31639-3] subset: Europhenome_Terms subset: IMPC synonym: "reduced startle reflex" EXACT [] is_a: MP:0001486 ! abnormal startle reflex [Term] id: MP:0001490 name: abnormal vibrissae reflex alt_id: MP:0001276 alt_id: MP:0001969 def: "animals do not change position in response to stimulation of the whiskers" [J:17194] synonym: "abnormal vibrissa reflex" EXACT [] synonym: "failure to orient in response to vibrissae stimulation" EXACT [] is_a: MP:0001961 ! abnormal reflex [Term] id: MP:0001491 name: unresponsive to tactile stimuli alt_id: MP:0001971 alt_id: MP:0001976 def: "absence of reflex action normally induced by touch or pain" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "absent pain responsiveness in pin prick test" EXACT [] synonym: "absent pain responsiveness in tail pinch test" EXACT [] synonym: "absent tactile reflex" EXACT [] synonym: "tactile analgesia" RELATED [] is_a: MP:0005316 ! abnormal response to tactile stimuli [Term] id: MP:0001492 name: abnormal pilomotor reflex def: "anomaly in the involuntary bristling of hairs that occurs when an organism is cold or experiences strong emotions such as fear or awe" [https://orcid.org/0000-0003-3691-0324, MESH:F02.830.702.607] comment: The pilomotor reflex occurs in many mammals; for example, porcupines raise their quills when threatened. Piloerection as a response to cold or fear is vestigial in humans; as humans retain only very little body hair, the reflex (in humans) now provides no known benefit. synonym: "abnormal piloerection response" EXACT [] synonym: "cutis anserina" RELATED [] synonym: "goosebumps" RELATED [] synonym: "horripilation" RELATED [] is_a: MP:0001961 ! abnormal reflex [Term] id: MP:0001496 name: audiogenic seizures alt_id: MP:0000949 def: "a reflex seizure triggered by loud noises" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] is_a: MP:0000947 ! convulsive seizures is_a: MP:0009358 ! environmentally induced seizures [Term] id: MP:0001499 name: abnormal kindling response def: "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" [ISBN:0-683-40008-8, J:45446] synonym: "abnormal kindling behavior" EXACT [] synonym: "abnormal kindling behaviour" EXACT [] is_a: MP:0001650 ! abnormal seizure response to electrical stimulation [Term] id: MP:0001500 name: decreased kindling response def: "fewer epileptogenic changes normally induced by daily sub threshold electrical brain stimulation" [J:45446] synonym: "decreased kindling behavior" EXACT [] synonym: "decreased kindling behaviour" EXACT [] synonym: "reduced kindling behavior" EXACT [] synonym: "reduced kindling behaviour" EXACT [] synonym: "reduced kindling response" EXACT [] is_a: MP:0001499 ! abnormal kindling response [Term] id: MP:0001501 name: abnormal sleep pattern alt_id: MP:0002004 def: "deviation from the normal wake/sleep cycle" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0011396 ! abnormal sleep behavior [Term] id: MP:0001502 name: obsolete abnormal circadian rhythm def: "deviation from the normal 24 hour biological activity cycle" [https://orcid.org/0000-0003-3691-0324] comment: 'has part' some \n (quality\n and ('inheres in' some 'circadian rhythm')\n and ('has modifier' some abnormal))\nterm was placed under behavior but definition was for any circadian rhythm not just behavior\nalt ID MP:0002005 is_obsolete: true [Term] id: MP:0001503 name: obsolete abnormal strength/ posture def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0001504 consider: MP:0004262 [Term] id: MP:0001504 name: abnormal posture def: "atypical intentionally or habitually assumed position of the limbs or carriage of the body" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms is_a: MP:0002066 ! abnormal motor capabilities/coordination/movement [Term] id: MP:0001505 name: hunched posture def: "stooped low with the limbs pulled in close to the body and arched back" [J:30404, J:67231] is_a: MP:0001504 ! abnormal posture [Term] id: MP:0001506 name: limp posture def: "lack of rigidity of the carriage of the body" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, J:60159] is_a: MP:0001504 ! abnormal posture [Term] id: MP:0001507 name: obsolete positional passivity def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001508 name: obsolete abnormal body tone def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001509 name: obsolete abnormal body position def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001510 name: abnormal coat appearance def: "anomaly in the visual aspect of the coat or hair" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal appearance of the fur" EXACT [] is_a: MP:0000367 ! abnormal coat/ hair morphology [Term] id: MP:0001511 name: disheveled coat def: "coat that looks generally unkempt" [MGI:cwg] synonym: "disheveled appearance of the fur" EXACT [] synonym: "ragged coat" EXACT [] is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0001512 name: trunk curl def: "posture of the trunk in a curled position" [MGI:cml] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms is_a: MP:0001504 ! abnormal posture [Term] id: MP:0001513 name: limb grasping def: "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [MGI:cml] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal clutching reflex" EXACT [] synonym: "grasping reflex" EXACT [] synonym: "hind limb extension reflex" EXACT [] synonym: "hindlimb extension reflex" EXACT [] synonym: "limb clamping" EXACT [] synonym: "limb clasping" EXACT [] is_a: MP:0001961 ! abnormal reflex [Term] id: MP:0001514 name: obsolete abnormal footprint pathway def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001515 name: abnormal grip strength def: "altered ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393] subset: Europhenome_Terms subset: IMPC is_a: MP:0004262 ! abnormal physical strength [Term] id: MP:0001516 name: abnormal motor coordination/balance def: "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "impaired proprioception" EXACT [] is_a: MP:0002066 ! abnormal motor capabilities/coordination/movement [Term] id: MP:0001522 name: impaired swimming def: "reduced ability or inability to swim" [J:39081, J:45446] synonym: "impaired ability to orient in water" NARROW [] is_a: MP:0001516 ! abnormal motor coordination/balance is_a: MP:0003312 ! abnormal locomotor coordination [Term] id: MP:0001523 name: impaired righting response def: "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" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms is_a: MP:0002862 ! abnormal righting response [Term] id: MP:0001524 name: impaired limb coordination def: "reduced ability to organize limb movements to execute complex maneuvers, such as walking" [https://orcid.org/0000-0003-3691-0324, J:17123, J:64962] is_a: MP:0001516 ! abnormal motor coordination/balance is_a: MP:0003312 ! abnormal locomotor coordination [Term] id: MP:0001525 name: impaired balance def: "reduced ability of an animal to maintain equilibrium" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] is_a: MP:0001516 ! abnormal motor coordination/balance [Term] id: MP:0001526 name: abnormal placing response def: "altered ability to stretch and lift the forelimbs and head to grab a close edge" [MGI:cml, PMID:11136708] synonym: "abnormal reaching response" EXACT [] synonym: "abnormal visual placing" EXACT [] is_a: MP:0001516 ! abnormal motor coordination/balance [Term] id: MP:0001527 name: athetotic walking movements def: "characterized by slow, writhing involuntary movements of flexion, extension, pronation and supination of the paws and toes" [ISBN:0-683-40008-8, PMID:8208292] synonym: "athetosis" EXACT [] is_a: MP:0001516 ! abnormal motor coordination/balance is_a: MP:0003312 ! abnormal locomotor coordination is_a: MP:0003492 ! abnormal involuntary movement [Term] id: MP:0001529 name: abnormal vocalization alt_id: MP:0001528 def: "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" [MGI:cml] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0001530 name: obsolete Increased Vocalization def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0001529 [Term] id: MP:0001531 name: obsolete Decreased Vocalization def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0001529 [Term] id: MP:0001532 name: obsolete Physiology def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001533 name: abnormal skeleton physiology def: "any functional anomaly of the bony framework of the body" [ISBN:0-683-40008-8] synonym: "abnormal bone/ skeleton physiology" EXACT [] synonym: "bone/ skeletal physiology abnormalities" EXACT [] is_a: MP:0005390 ! skeleton phenotype [Term] id: MP:0001539 name: decreased caudal vertebrae number def: "reduced number of the bony segments of the tail or tail remnant" [ISBN:0-683-40008-8] comment: There are usually 27-30 caudal vertebrae present in rodents and only 3-5 fused caudal vertebrae in human. subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased number of caudal vertebrae" EXACT [] synonym: "decreased number of tail vertebrae" EXACT [] synonym: "reduced caudal vertebrae number" EXACT [] is_a: MP:0002759 ! abnormal caudal vertebrae morphology is_a: MP:0004645 ! decreased vertebrae number [Term] id: MP:0001541 name: abnormal osteoclast physiology def: "any functional anomaly of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue" [CL:0000092] synonym: "abnormal chondroclast physiology" RELATED [] is_a: MP:0002451 ! abnormal macrophage physiology is_a: MP:0002998 ! abnormal bone remodeling [Term] id: MP:0001542 name: abnormal bone strength def: "change in the ability of bone to endure the application of force without yielding or breaking" [ISBN:0-683-40008-8] is_a: MP:0001533 ! abnormal skeleton physiology [Term] id: MP:0001544 name: abnormal cardiovascular system physiology alt_id: MP:0000302 alt_id: MP:0001623 alt_id: MP:0001626 alt_id: MP:0002130 def: "any functional anomaly of the heart or vascular tissue" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal cardiovascular function" EXACT [] synonym: "abnormal circulatory system physiology" EXACT [] synonym: "abnormal heart function" NARROW [] synonym: "circulatory system physiology abnormalities" EXACT [] synonym: "heart/cardiovascular system: other functional anomalies" EXACT [] synonym: "other abnormal cardiovascular system physiology" EXACT [] xref: MGI:2173590 is_a: MP:0005385 ! cardiovascular system phenotype [Term] id: MP:0001545 name: abnormal hematopoietic system physiology def: "any functional anomaly of the fluid and/or its suspended elements that circulate(s) through the heart, arteries, capillaries, and veins" [ISBN:0-683-40008-8] synonym: "abnormal haematopoietic system physiology" EXACT [] synonym: "abnormal haemopoietic system physiology" EXACT [] synonym: "abnormal hemopoietic system physiology" EXACT [] synonym: "blood defects" EXACT [] synonym: "blood physiology abnormalities" EXACT [] is_a: MP:0005397 ! hematopoietic system phenotype [Term] id: MP:0001547 name: abnormal lipid level def: "any anomaly in the concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body" [ISBN:0-683-40008-8] is_a: MP:0002118 ! abnormal lipid homeostasis [Term] id: MP:0001548 name: hyperlipidemia def: "abnormally high concentration of lipids in the circulating blood" [ISBN:0-683-40008-8, PMID:8941642] synonym: "hyperlipaemia" EXACT [] synonym: "hyperlipemia" EXACT [] synonym: "hyperlipidaemia" EXACT [] synonym: "lipaemia" EXACT [] synonym: "lipemia" EXACT [] is_a: MP:0003949 ! abnormal circulating lipid level is_a: MP:0014460 ! increased lipid level [Term] id: MP:0001552 name: increased circulating triglyceride level alt_id: MP:0005142 def: "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" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "elevated plasma triacylglycerol level" NARROW [] synonym: "elevated plasma triglyceride level" NARROW [] synonym: "elevated serum triacylglycerol level" NARROW [] synonym: "elevated serum triglyceride level" NARROW [] synonym: "hypertriglyceridaemia" EXACT [] synonym: "hypertriglyceridemia" EXACT [] is_a: MP:0005317 ! increased triglyceride level is_a: MP:0011969 ! abnormal circulating triglyceride level [Term] id: MP:0001553 name: abnormal circulating free fatty acids level def: "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" [ISBN:0-683-40008-8] synonym: "abnormal circulating free fatty acid level" EXACT [] synonym: "abnormal circulating non-esterified fatty acids level" EXACT [] synonym: "abnormal FFA level" BROAD [] synonym: "abnormal NEFA level" BROAD [] synonym: "abnormal UFA level" BROAD [] synonym: "abnormal unesterified fatty acids level" BROAD [] is_a: MP:0003949 ! abnormal circulating lipid level is_a: MP:0010358 ! abnormal free fatty acids level [Term] id: MP:0001554 name: increased circulating free fatty acids level def: "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" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "elevated serum free fatty acid levels" NARROW [] synonym: "increased circulating free fatty acid level" EXACT [] synonym: "increased circulating non-esterified fatty acids level" EXACT [] synonym: "increased FFA level" EXACT [] synonym: "increased free fatty acids level" RELATED [] synonym: "increased NEFA level" RELATED [] synonym: "increased UFA level" EXACT [] synonym: "increased unesterified fatty acids level" EXACT [] is_a: MP:0001553 ! abnormal circulating free fatty acids level is_a: MP:0005281 ! increased fatty acids level [Term] id: MP:0001556 name: increased circulating HDL cholesterol level alt_id: MP:0000185 alt_id: MP:0002617 def: "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" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "elevated circulating HDL cholesterol level" EXACT [] synonym: "elevated HDL cholesterol level" BROAD [] synonym: "high HDL cholesterol level" BROAD [] synonym: "high HDL serum level" NARROW [] synonym: "increased HDL cholesterol level" BROAD [] is_a: MP:0000184 ! abnormal circulating HDL cholesterol level is_a: MP:0005178 ! increased circulating cholesterol level [Term] id: MP:0001559 name: hyperglycemia alt_id: MP:0000190 alt_id: MP:0002612 def: "abnormally high concentration of glucose in the blood; generally refers to a pathological state" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC synonym: "high blood glucose levels" EXACT [] synonym: "hyperglycaemia" EXACT [] synonym: "Increased Blood Glucose Level" EXACT [] is_a: MP:0005559 ! increased circulating glucose level [Term] id: MP:0001560 name: abnormal circulating insulin level alt_id: MP:0000191 def: "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" [ISBN:0-683-40008-8] synonym: "abnormal blood insulin level" EXACT [] is_a: MP:0002078 ! abnormal glucose homeostasis is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0001562 name: abnormal circulating calcium level alt_id: MP:0000193 alt_id: MP:0001767 def: "any anomaly in the concentration of calcium in the blood" [MGI:cwg] synonym: "abnormal blood calcium level" EXACT [] is_a: MP:0006357 ! abnormal circulating mineral level is_a: MP:0020879 ! abnormal calcium level [Term] id: MP:0001565 name: abnormal circulating phosphate level alt_id: MP:0000196 alt_id: MP:0001772 def: "any anomaly in the blood concentrations of the salt or ester of phosphoric acid" [ISBN:0-683-40008-8] is_a: MP:0006357 ! abnormal circulating mineral level is_a: MP:0020885 ! abnormal phosphate level [Term] id: MP:0001566 name: increased circulating phosphate level alt_id: MP:0000197 alt_id: MP:0001773 def: "abnormally high concentrations of phosphates in the circulating blood" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC synonym: "hyperphosphataemia" EXACT [] synonym: "hyperphosphatemia" EXACT [] is_a: MP:0001565 ! abnormal circulating phosphate level is_a: MP:0014545 ! increased phosphate level is_a: MP:0014547 ! increased circulating mineral level [Term] id: MP:0001569 name: abnormal circulating bilirubin level alt_id: MP:0000200 def: "any anomaly in the concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0001570 name: abnormal circulating enzyme level alt_id: MP:0000201 def: "aberrant concentration in the blood of any of the proteins that act as catalysts for biological reactions" [MGI:cwg] synonym: "abnormal blood enzyme level" EXACT [] is_a: MP:0005319 ! abnormal enzyme/coenzyme level is_a: MP:0005416 ! abnormal circulating protein level [Term] id: MP:0001573 name: abnormal circulating alanine transaminase level alt_id: MP:0000204 def: "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" [ISBN:0-683-40008-8] synonym: "abnormal alanine aminotransferase level" BROAD [] synonym: "abnormal alanine transaminase level" BROAD [] synonym: "abnormal ALT level" BROAD [] synonym: "abnormal GPT level" BROAD [] synonym: "abnormal serum glutamate pyruvate transaminase level" NARROW [] synonym: "abnormal serum glutamic-pyruvic transaminase level" NARROW [] synonym: "abnormal SGPT level" NARROW [] is_a: MP:0001570 ! abnormal circulating enzyme level [Term] id: MP:0001574 name: abnormal oxygen level def: "any anomaly in the concentration of the gaseous element that is essential for animal and plant life" [ISBN:0-683-40008-8] is_a: MP:0003948 ! abnormal gas homeostasis [Term] id: MP:0001575 name: cyanosis def: "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [ISBN:0-683-40008-8] subset: IMPC_Prenatal synonym: "cyanotic" EXACT [] is_a: MP:0001574 ! abnormal oxygen level is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0001577 name: anemia def: "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" [ISBN:0-683-40008-8, PMID:9949198] synonym: "anaemia" EXACT [] is_a: MP:0002429 ! abnormal blood cell morphology/development [Term] id: MP:0001584 name: obsolete platelet storage pool deficiency alt_id: MP:0000212 def: "OBSOLETE. a blood coagulation disorder in which there is a decrease or lack of platelet dense bodies" [MESH:C15.378.100.685] comment: This is really a disease term; see OMIM:185050. synonym: "platelet storage pooling deficiency" EXACT [] is_obsolete: true consider: MP:0004721 [Term] id: MP:0001585 name: hemolytic anemia alt_id: MP:0000213 def: "deficiency of red cells resulting from an increased rate of erythrocyte destruction" [ISBN:0-683-40008-8] synonym: "haemolytic anaemia" EXACT [] synonym: "hemolytic anaemia" EXACT [] synonym: "increased rate of erythrocyte destruction" EXACT [] is_a: MP:0001577 ! anemia [Term] id: MP:0001586 name: abnormal erythrocyte cell number alt_id: MP:0000214 def: "altered number of the cells that transport oxygen, red blood cells, per unit" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal definitive erythrocyte cell number" EXACT [] synonym: "abnormal erythrocyte count" EXACT [] synonym: "abnormal RBC count" EXACT [] synonym: "abnormal red blood cell count" EXACT [] synonym: "erythrocyte count abnormalities" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology is_a: MP:0013661 ! abnormal myeloid cell number [Term] id: MP:0001588 name: abnormal hemoglobin alt_id: MP:0000224 def: "defects in the levels or the function of the oxygen-carrying protein of erythrocytes" [ISBN:0-683-40008-8] synonym: "abnormal haemoglobin" EXACT [] synonym: "haemoglobin abnormalities" EXACT [] synonym: "haemoglobin defects" EXACT [] synonym: "hemoglobin abnormalities" EXACT [] synonym: "hemoglobin defects" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0001589 name: abnormal mean corpuscular hemoglobin alt_id: MP:0000225 alt_id: MP:0002595 def: "anomalies in the average levels of hemoglobin contained in an erythrocyte" [ISBN:0-683-40008-8] comment: Mean corpuscular hemoglobin (MCH) is a standard measurment in clinical chemistry, usually reported in picograms/cell. synonym: "abnormal MCH" EXACT [] synonym: "abnormal mean corpuscular haemoglobin" EXACT [] synonym: "mean corpuscular haemoglobin" EXACT [] synonym: "mean corpuscular hemoglobin" EXACT [] is_a: MP:0001588 ! abnormal hemoglobin [Term] id: MP:0001596 name: hypotension alt_id: MP:0000232 def: "sustained low blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states" [ISBN:0-683-40008-8] is_a: MP:0002843 ! decreased systemic arterial blood pressure [Term] id: MP:0001598 name: abnormal blood viscosity alt_id: MP:0000234 def: "anomaly in the resistance to flow of the blood through the vessels" [ISBN:0-683-40008-8] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0001599 name: abnormal blood volume alt_id: MP:0000235 def: "any anomaly in the amount of space occupied by the blood in the vessels" [ISBN:0-683-40008-8] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0001601 name: abnormal myelopoiesis alt_id: MP:0000169 def: "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" [MESH:G04.335.151.825.597.750] synonym: "abnormal myeloid cell differentiation" EXACT [] synonym: "myelopoiesis abnormalities" EXACT [] is_a: MP:0005460 ! abnormal leukopoiesis [Term] id: MP:0001602 name: impaired myelopoiesis alt_id: MP:0000170 def: "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" [ISBN:0-683-40008-8, MGI:tc] synonym: "reduced myelopoiesis" EXACT [] is_a: MP:0001601 ! abnormal myelopoiesis [Term] id: MP:0001603 name: failure of myelopoiesis alt_id: MP:0000171 def: "missing the process of bone marrow cell formation and/or the formation of bone marrow-derived blood cells" [ISBN:0-683-40008-8, MGI:tc, PMID:10716451] synonym: "absence of myelopoiesis" EXACT [] is_a: MP:0001601 ! abnormal myelopoiesis [Term] id: MP:0001606 name: impaired hematopoiesis alt_id: MP:0000244 alt_id: MP:0001607 def: "atypical process of blood cell formation with the result of fewer of these cells being formed" [MGI:tc, PMID:10716451] synonym: "impaired haematopoiesis" EXACT [] synonym: "reduced haematogenesis" EXACT [] synonym: "reduced haematopoiesis" EXACT [] synonym: "reduced haematosis" EXACT [] synonym: "reduced haemogenesis" EXACT [] synonym: "reduced haemopoiesis" EXACT [] synonym: "reduced hematogenesis" EXACT [] synonym: "reduced hematopoiesis" EXACT [] synonym: "reduced hematosis" EXACT [] synonym: "reduced hemogenesis" EXACT [] synonym: "reduced hemopoiesis" EXACT [] synonym: "reduced sanguification" EXACT [] is_a: MP:0002429 ! abnormal blood cell morphology/development [Term] id: MP:0001613 name: abnormal vasodilation alt_id: MP:0000251 alt_id: MP:0005594 def: "anomaly in the physiological widening of the lumen of the blood vessels by relaxing the underlying vascular smooth muscle" [ISBN:0-683-40008-8, MESH:G09.330.582.400.925] synonym: "abnormal vascular endothelium-dependent relaxation" EXACT [] synonym: "abnormal vascular relaxation" EXACT [] synonym: "abnormal vascular smooth muscle dilation" EXACT [] synonym: "abnormal vasodilatation" EXACT [] synonym: "abnormal vasorelaxation" EXACT [] is_a: MP:0005595 ! abnormal vascular smooth muscle physiology [Term] id: MP:0001614 name: abnormal blood vessel morphology alt_id: MP:0000252 alt_id: MP:0001611 alt_id: MP:0002125 def: "any structural anomaly of the network of tubes that carries blood through the body" [https://orcid.org/0000-0003-3691-0324] subset: IMPC_Prenatal synonym: "abnormal blood vasculature morphology" EXACT [] synonym: "blood vessel abnormalities" BROAD [] synonym: "blood vessel dysplasia" EXACT [] synonym: "vascular dysplasia" EXACT [] synonym: "vasculature abnormalities" BROAD [] is_a: MP:0002127 ! abnormal cardiovascular system morphology [Term] id: MP:0001615 name: obsolete Decreased Vasculature alt_id: MP:0000253 def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "Decreased Vasculature" EXACT [] is_obsolete: true consider: MP:0001614 [Term] id: MP:0001616 name: obsolete Increased Vasculature alt_id: MP:0000254 def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0001614 [Term] id: MP:0001619 name: abnormal vascular permeability alt_id: MP:0000258 def: "anomaly in the ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases" [ISBN:0-683-40008-8] is_a: MP:0000249 ! abnormal blood vessel physiology [Term] id: MP:0001622 name: abnormal vasculogenesis alt_id: MP:0000261 def: "aberrant process of the initial establishment of the vascular network" [https://orcid.org/0000-0003-3691-0324] synonym: "vasculogenesis abnormalities" EXACT [] is_a: MP:0000259 ! abnormal vascular development [Term] id: MP:0001625 name: cardiac hypertrophy def: "an increase in size of the cardiac tissue, not due to increased cell number" [ISBN:0-683-40008-8] is_a: MP:0000274 ! enlarged heart [Term] id: MP:0001627 name: abnormal cardiac output alt_id: MP:0000303 def: "anomaly in the blood volume pumped by each ventricle per minute (stroke volume x heart rate)" [MESH:E01.370.370.380.150, MGI:cwg] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0001629 name: abnormal heart rate alt_id: MP:0000305 def: "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" [https://orcid.org/0000-0002-0371-1954, MESH:G09.330.553.660.500] subset: Europhenome_Terms subset: IMPC is_a: MP:0004085 ! abnormal heartbeat [Term] id: MP:0001633 name: poor circulation def: "insufficient movement of blood throughout the body, often manifesting in cold and/or pale skin" [https://orcid.org/0000-0003-3691-0324, PMID:9362461] synonym: "cold skin" RELATED [] synonym: "pale skin" RELATED [] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0001634 name: internal hemorrhage def: "blood loss in the interior of the body due to vessel rupture or dysmorphology" [PMID:7854452] synonym: "internal bleeding" EXACT [] synonym: "internal haemorrhage" EXACT [] is_a: MP:0001914 ! hemorrhage [Term] id: MP:0001636 name: irregular heartbeat def: "uneven timing of heart contraction" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "altered heart rhythm" EXACT [] synonym: "arrhythmia" BROAD [] is_a: MP:0004085 ! abnormal heartbeat [Term] id: MP:0001637 name: obsolete cardiac arrest def: "OBSOLETE. complete cessation of cardiac activity" [ISBN:0-683-40008-8] is_obsolete: true [Term] id: MP:0001641 name: obsolete death def: "OBSOLETE. cessation of life; cessation of integrated tissue and organ functions; a gradual process at the cellular level" [ISBN:0-683-40008-8] is_obsolete: true consider: MP:0001657 consider: MP:0010769 [Term] id: MP:0001648 name: abnormal apoptosis def: "excessive or absent cell death in a particular tissue or cell type" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] xref: GO:0006915 is_a: MP:0014355 ! abnormal programmed cell death [Term] id: MP:0001649 name: abnormal mandibular symphysis morphology alt_id: MP:0000096 def: "any structural anomaly of the fibrocartilagenous union of the two halves of the mandible (embryonic stages)" [ISBN:0-683-40008-8, PMID:7914451] synonym: "abnormal inter-mandibular joint morphology" EXACT [] synonym: "abnormal intermandibular joint morphology" EXACT [] synonym: "abnormal mental symphysis morphology" RELATED [] synonym: "abnormal symphysis mandibulae morphology" RELATED [] synonym: "abnormal symphysis mentalis morphology" RELATED [] synonym: "abnormal symphysis menti morphology" EXACT [] synonym: "symphysis menti dysplasia" EXACT [] is_a: MP:0000458 ! abnormal mandible morphology is_a: MP:0030877 ! abnormal symphysis morphology [Term] id: MP:0001650 name: abnormal seizure response to electrical stimulation def: "anomaly in the seizure activity response that is brought about by high or low frequency electrical stimulation" [https://orcid.org/0000-0003-3691-0324, MGI:wf] synonym: "electrically induced seizures" RELATED [] is_a: MP:0009357 ! abnormal seizure response to inducing agent [Term] id: MP:0001651 name: obsolete necrosis def: "pathological death of cells or a portion of a tissue or organ; usually due to irreversible damage" [PMID:7830794] comment: This term is nonspecific. Use MP:0000316 for widespread cellular necrosis, or use tissue-specific terms. is_obsolete: true replaced_by: MP:0000316 [Term] id: MP:0001652 name: colonic necrosis def: "morphological changes resulting from pathological death of some or all colon tissue; usually due to irreversible damage" [MGI:cwg] synonym: "necrotic colon" EXACT [] is_a: MP:0000495 ! abnormal colon morphology [Term] id: MP:0001653 name: gastric necrosis def: "morphological changes resulting from pathological death of gastric tissue; usually due to irreversible damage" [MGI:cwg] synonym: "necrotic stomach" EXACT [] is_a: MP:0000470 ! abnormal stomach morphology [Term] id: MP:0001654 name: hepatic necrosis def: "morphological changes resulting from pathological death of liver tissue; usually due to irreversible damage" [MGI:cwg] synonym: "liver necrosis" EXACT [] synonym: "necrotic liver" EXACT [] is_a: MP:0000598 ! abnormal liver morphology [Term] id: MP:0001655 name: multifocal hepatic necrosis def: "morphological changes resulting from multiple localized areas of pathological death of liver tissue; usually due to irreversible damage" [MGI:cwg] synonym: "multifocal liver necrosis" EXACT [] synonym: "multifocally necrotic liver" EXACT [] is_a: MP:0001654 ! hepatic necrosis [Term] id: MP:0001656 name: focal hepatic necrosis def: "morphological changes resulting from one or more localized areas of pathological death of some or all liver tissue; usually due to irreversible damage" [MGI:cwg] synonym: "focal liver necrosis" EXACT [] synonym: "focally necrotic liver" EXACT [] is_a: MP:0001654 ! hepatic necrosis [Term] id: MP:0001657 name: abnormal induced morbidity/mortality def: "differences from the expected diseased state or death caused by an external intervention" [MGI:cwg] is_a: MP:0010768 ! mortality/aging [Term] id: MP:0001658 name: increased mortality induced by gamma-irradiation def: "greater sensitivity to doses of ionizing radiation" [J:51834] is_a: MP:0003992 ! increased mortality induced by ionizing radiation [Term] id: MP:0001659 name: obsolete altered life span alt_id: MP:0001660 def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "altered life span" EXACT [] is_obsolete: true consider: MP:0010769 [Term] id: MP:0001661 name: extended life span def: "persistence of life for a longer period than is normal for an organism" [MGI:cwg] synonym: "extended lifespan" EXACT [] is_a: MP:0010769 ! abnormal survival [Term] id: MP:0001663 name: abnormal digestive system physiology alt_id: MP:0002142 def: "any functional anomaly of the organ system that converts ingested food to nutrients and energy" [MGI:cwg] subset: Europhenome_Terms subset: IMPC synonym: "digestive system physiology abnormalities" EXACT [] synonym: "digestive system: functional anomalies" EXACT [] xref: MGI:2173602 is_a: MP:0005381 ! digestive/alimentary phenotype [Term] id: MP:0001664 name: abnormal digestion def: "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" [GO:0007586] synonym: "abnormal digestive function" EXACT [] is_a: MP:0001663 ! abnormal digestive system physiology [Term] id: MP:0001665 name: chronic diarrhea def: "prolonged diarrhea" [ISBN:0-683-40008-8] synonym: "chronic diarrhoea" EXACT [] synonym: "prolonged diarrhoea" EXACT [] is_a: MP:0005036 ! diarrhea [Term] id: MP:0001666 name: abnormal intestinal absorption alt_id: MP:0008865 def: "any anomaly in the quantity or rate of any nutrient taken up from the contents of the intestine" [GO:0050892] synonym: "abnormal nutrient absorption" EXACT [] is_a: MP:0001664 ! abnormal digestion [Term] id: MP:0001667 name: obsolete abnormal carbohydrate absorption def: "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" [MGI:cwg] comment: Carbohydrates are not absorbed in the intestines; they must be converted to monosaccharides in the digestive process before uptake by the intestines. is_obsolete: true replaced_by: MP:0001669 [Term] id: MP:0001668 name: abnormal intestinal fructose absorption def: "any anomaly in the ability of the small intestine to absorb fructose into the bloodstream" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal fructose absorption" BROAD [] is_a: MP:0001666 ! abnormal intestinal absorption [Term] id: MP:0001669 name: abnormal intestinal glucose absorption def: "any anomaly in the ability of the small intestine to absorb glucose into the bloodstream" [GO:0001951, https://orcid.org/0000-0003-3691-0324] synonym: "abnormal glucose absorption" BROAD [] synonym: "abnormal intestinal D-glucose absorption" EXACT [] is_a: MP:0001666 ! abnormal intestinal absorption [Term] id: MP:0001670 name: abnormal intestinal mineral absorption def: "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" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0001666 ! abnormal intestinal absorption [Term] id: MP:0001671 name: abnormal vitamin absorption def: "any anomaly in the ability to take in any of a group of organic substances, present in food, that are essential to normal metabolism" [ISBN:0-683-40008-8] is_a: MP:0001666 ! abnormal intestinal absorption is_a: MP:0004019 ! abnormal vitamin homeostasis [Term] id: MP:0001672 name: abnormal embryo development def: "anomaly in the establishment of the characteristic configuration of the embryonic body" [ISBN:0-683-40008-8] synonym: "abnormal embryogenesis/ development" EXACT [] synonym: "embryogenesis/ development abnormalities" EXACT [] xref: GO:0007275 is_a: MP:0005380 ! embryo phenotype [Term] id: MP:0001674 name: abnormal germ layer development def: "abnormal development of the three primary germ layers of the embryo" [ISBN:0-683-40008-8, MGI:tc] synonym: "abnormal triploblastic development" EXACT [] is_a: MP:0001695 ! abnormal gastrulation [Term] id: MP:0001675 name: abnormal ectoderm development def: "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" [http://discovery.lifemapsc.com/in-vivo-development/ectoderm, http://discovery.lifemapsc.com/library/review-of-medical-embryology/chapter-25-germ-layers-and-their-derivatives, http://en.wikipedia.org/wiki/Ectoderm, https://orcid.org/0000-0002-6490-7723] xref: GO:0001705 is_a: MP:0001674 ! abnormal germ layer development [Term] id: MP:0001676 name: abnormal apical ectodermal ridge morphology def: "any structural anomaly of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme" [MGI:tc] synonym: "abnormal AER" EXACT [] is_a: MP:0005650 ! abnormal limb bud morphology is_a: MP:0014139 ! abnormal ectoderm morphology [Term] id: MP:0001677 name: absent apical ectodermal ridge def: "missing the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme" [PMID:10227294] synonym: "absence of apical ectodermal ridge" EXACT [] synonym: "absent AER" EXACT [] is_a: MP:0001676 ! abnormal apical ectodermal ridge morphology [Term] id: MP:0001678 name: thick apical ectodermal ridge def: "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" [MGI:tc] synonym: "thick AER" EXACT [] is_a: MP:0001676 ! abnormal apical ectodermal ridge morphology [Term] id: MP:0001679 name: thin apical ectodermal ridge def: "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" [MGI:tc] synonym: "thin AER" EXACT [] is_a: MP:0001676 ! abnormal apical ectodermal ridge morphology [Term] id: MP:0001680 name: abnormal mesoderm development alt_id: MP:0001681 def: "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" [https://orcid.org/0000-0002-6490-7723, https://orcid.org/0000-0003-3691-0324] synonym: "abnormal mesoderm differentiation" EXACT [] xref: GO:0001707 is_a: MP:0001674 ! abnormal germ layer development [Term] id: MP:0001683 name: absent mesoderm alt_id: MP:0001682 def: "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" [https://orcid.org/0000-0002-6490-7723, https://orcid.org/0000-0003-3691-0324] synonym: "absence of mesoderm" EXACT [] synonym: "Failure of Mesoderm Formation" EXACT [] xref: GO:0001707 is_a: MP:0014141 ! abnormal mesoderm morphology [Term] id: MP:0001684 name: abnormal axial mesoderm morphology def: "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" [https://orcid.org/0000-0002-6490-7723, https://orcid.org/0000-0003-3691-0324] is_a: MP:0014141 ! abnormal mesoderm morphology [Term] id: MP:0001685 name: abnormal endoderm development alt_id: MP:0001686 def: "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" [http://discovery.lifemapsc.com/in-vivo-development/endoderm, http://discovery.lifemapsc.com/library/review-of-medical-embryology/chapter-25-germ-layers-and-their-derivatives, http://education-portal.com/academy/lesson/endoderm-layer-definition-derivatives-quiz.html#lesson] synonym: "abnormal definitive endoderm development" EXACT [] synonym: "abnormal endoderm differentiation" EXACT [] synonym: "abnormal entoderm development" EXACT [] xref: GO:0001706 is_a: MP:0001674 ! abnormal germ layer development [Term] id: MP:0001687 name: thin endoderm def: "reduced thickness of the innermost germ layer of the embryo" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "thin definitive endoderm" EXACT [] synonym: "thin entoderm" EXACT [] is_a: MP:0014140 ! abnormal endoderm morphology [Term] id: MP:0001688 name: abnormal somite development def: "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" [GO:0001756, PMID:21164524] subset: IMPC_Prenatal synonym: "abnormal metablastic segment development" EXACT [] synonym: "abnormal somite formation" EXACT [] synonym: "abnormal somite segmentation" EXACT [] synonym: "abnormal somitogenesis" EXACT [] is_a: MP:0002085 ! abnormal embryonic tissue morphology [Term] id: MP:0001689 name: incomplete somite formation def: "arrest of differentiation or patterning of the somites" [J:62882] is_a: MP:0009768 ! impaired somite development [Term] id: MP:0001690 name: failure of somite differentiation def: "disorganized or absent somite tissue or somite pattern in development" [J:25248] is_a: MP:0009768 ! impaired somite development [Term] id: MP:0001691 name: abnormal somite shape def: "anomaly in the characteristic surface outline or contour of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo" [https://orcid.org/0000-0003-3691-0324] synonym: "irregular somite shape" EXACT [] is_a: MP:0001688 ! abnormal somite development [Term] id: MP:0001693 name: failure of primitive streak formation def: "inability to form the epiblast ridge from which arises the germ layers of the embryo" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] xref: GO:0007369 is_a: MP:0002230 ! abnormal primitive streak formation [Term] id: MP:0001694 name: absent egg cylinders def: "inability of inner cell mass cells to grow towards the abembryonic pole to form a cylinder-like structure" [https://orcid.org/0000-0003-3691-0324, ISBN:0-12-402035-6] synonym: "failure to form egg cylinders" EXACT [] is_a: MP:0003085 ! abnormal egg cylinder morphology [Term] id: MP:0001695 name: abnormal gastrulation def: "any anomaly in the development and invagination of the embryonic germ layers" [ISBN:0-683-40008-8] comment: in the mouse, gastrulation initiates at E6.5, as cells of the primitive ectoderm (epiblast) delaminate at the posterior side of the embryo and ingress through the primitive streak in an epithelial-to-mesenchymal transition xref: GO:0007669 is_a: MP:0002084 ! abnormal developmental patterning [Term] id: MP:0001696 name: failure to gastrulate def: "inability to differentiate and invaginate the primary germ layers" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] xref: GO:0007669 is_a: MP:0001695 ! abnormal gastrulation [Term] id: MP:0001697 name: abnormal embryo size def: "any anomaly in the proportions of embryo compared to littermates (sensu Mus: up to E14, or the completion of organogenesis)" [MGI:cwg] is_a: MP:0002088 ! abnormal embryonic growth/weight/body size is_a: MP:0010866 ! abnormal prenatal body size is_a: MP:0014134 ! abnormal embryo morphology [Term] id: MP:0001698 name: decreased embryo size def: "smaller proportions of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis)" [MGI:cwg] subset: IMPC_Prenatal synonym: "reduced embryo size" EXACT [] synonym: "small embryo" EXACT [] is_a: MP:0001697 ! abnormal embryo size [Term] id: MP:0001699 name: increased embryo size def: "larger proportions of embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis)" [MGI:cwg] subset: IMPC_Prenatal synonym: "enlarged embryo size" EXACT [] is_a: MP:0001697 ! abnormal embryo size [Term] id: MP:0001700 name: abnormal embryo turning def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-12-402035-6] comment: In mouse, this event occurs at E8.5-E9.5. subset: IMPC_Prenatal synonym: "abnormal embryonic axial rotation" EXACT [] synonym: "Abnormal Turning of Embryo" EXACT [] xref: GO:0007669 is_a: MP:0001695 ! abnormal gastrulation [Term] id: MP:0001701 name: incomplete embryo turning def: "arrest of the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage" [J:62571] comment: In mouse, this event occurs at E8.5-E9.5. subset: IMPC_Prenatal xref: GO:0007669 is_a: MP:0001700 ! abnormal embryo turning [Term] id: MP:0001704 name: abnormal dorsal-ventral axis patterning def: "anomaly in the development or formation of the axis that runs from the front to the back surface of the body" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal back-front patterning" EXACT [] is_a: MP:0002084 ! abnormal developmental patterning [Term] id: MP:0001705 name: abnormal proximal-distal axis patterning def: "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" [MGI:cwg] is_a: MP:0002084 ! abnormal developmental patterning [Term] id: MP:0001706 name: abnormal left-right axis patterning def: "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" [MGI:cwg] subset: IMPC_Prenatal synonym: "abnormal dextro-sinistral axis patterning" EXACT [] synonym: "abnormal L-R axis patterning" EXACT [] synonym: "abnormal sinistro-dextral axis patterning" EXACT [] is_a: MP:0002084 ! abnormal developmental patterning [Term] id: MP:0001710 name: absent amniotic folds def: "failure of the amnion to form involutions" [MGI:cwg] synonym: "absence of amniotic folds" EXACT [] is_a: MP:0005029 ! abnormal amnion morphology [Term] id: MP:0001711 name: abnormal placenta morphology def: "any structural anomaly of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin" [https://orcid.org/0000-0003-3691-0324] subset: IMPC_Prenatal synonym: "abnormal placental morphology" EXACT [] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology [Term] id: MP:0001712 name: abnormal placenta development def: "malformed or incomplete differentiation of the organ of metabolic exchange between the fetus and mother" [ISBN:0-683-40008-8] subset: IMPC_Prenatal synonym: "abnormal placental development" EXACT [] is_a: MP:0010038 ! abnormal placenta physiology [Term] id: MP:0001713 name: decreased trophoblast giant cell number def: "fewer than normal number of cells of the extraembryonic cell layer that contributes to the placenta" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "reduced trophoblast giant cell number" EXACT [] is_a: MP:0005033 ! abnormal trophoblast giant cell morphology [Term] id: MP:0001714 name: absent trophoblast giant cells def: "missing cells of the extraembryonic cell layer that contribute to the placenta" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "absence of trophoblast cells" EXACT [] is_a: MP:0001713 ! decreased trophoblast giant cell number [Term] id: MP:0001715 name: placental labyrinth hypoplasia def: "decrease in the number of normal cells in normal arrangement in the placental labyrinth, typically resulting in decreased size" [ISBN:0-683-40008-8] synonym: "hypoplasia of labyrinth" EXACT [] synonym: "hypoplastic labyrinth" EXACT [] synonym: "hypoplastic placental labyrinth" EXACT [] is_a: MP:0011521 ! decreased placental labyrinth size [Term] id: MP:0001716 name: abnormal placenta labyrinth morphology def: "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" [PMID:10888863] synonym: "abnormal labyrinth layer morphology" RELATED [] synonym: "abnormal placenta labyrinthine zone morphology" EXACT [] synonym: "abnormal placental labyrinth morphology" EXACT [] is_a: MP:0001711 ! abnormal placenta morphology [Term] id: MP:0001717 name: absent ectoplacental cone def: "missing the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta" [MGI:cwg] synonym: "absence of ectoplacental cone" EXACT [] synonym: "absent epamniotic cone" EXACT [] is_a: MP:0005032 ! abnormal ectoplacental cone morphology [Term] id: MP:0001718 name: abnormal visceral yolk sac morphology def: "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" [ISBN10:9780123364258, ISBN:0-683-40008-8, PMID:21123814] subset: IMPC_Prenatal synonym: "abnormal secondary yolk sac morphology" EXACT [] synonym: "abnormal umbilical vesicle morphology" EXACT [] synonym: "abnormal vitelline sac morphology" EXACT [] synonym: "abnormal yolk sac morphology" BROAD [] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology [Term] id: MP:0001719 name: absent vitelline blood vessels def: "absence of the vascular network that supplies the yolk sac" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "absence of vitelline blood vessels" EXACT [] synonym: "absent omphalomesenteric vessels" NARROW [] is_a: MP:0003229 ! abnormal vitelline vasculature morphology [Term] id: MP:0001720 name: obsolete excessive surface folding def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001721 name: absent visceral yolk sac blood islands def: "absence of the masses of developing blood cells attached to endothelium in the yolk sac" [PMID:16140152] synonym: "absence of blood islands" EXACT [] synonym: "absent blood islands" EXACT [] is_a: MP:0011204 ! abnormal visceral yolk sac blood island morphology [Term] id: MP:0001722 name: pale yolk sac def: "bloodless yolk sac" [J:62571] subset: IMPC_Prenatal is_a: MP:0001718 ! abnormal visceral yolk sac morphology [Term] id: MP:0001723 name: disorganized yolk sac vascular plexus def: "derangement in the pattern of the primary (honeycomb-like) vasculature of the yolk sac prior to remodeling into a mature vascular network" [https://orcid.org/0000-0003-3691-0324] synonym: "disorganised yolk sac vascular plexus" EXACT [] is_a: MP:0001718 ! abnormal visceral yolk sac morphology is_a: MP:0003229 ! abnormal vitelline vasculature morphology [Term] id: MP:0001724 name: abnormal extraembryonic endoderm formation def: "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" [http://discovery.lifemapsc.com/in-vivo-development/hypoblast/extraembryonic-endoderm] is_a: MP:0004264 ! abnormal extraembryonic tissue physiology [Term] id: MP:0001725 name: abnormal umbilical cord morphology def: "any structural anomaly of the connective stalk between the fetus and the placenta" [ISBN:0-683-40008-8, PMID:9144284] synonym: "abnormal chorda umbilicalis morphology" EXACT [] synonym: "abnormal funiculus umbilicalis morphology" EXACT [] synonym: "umbilical cord dysplasia" EXACT [] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology [Term] id: MP:0001726 name: abnormal allantois morphology def: "any structural anomaly fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels" [ISBN:0-683-40008-8] subset: IMPC_Prenatal is_a: MP:0002086 ! abnormal extraembryonic tissue morphology [Term] id: MP:0001727 name: abnormal embryo implantation def: "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" [ISBN:0-683-40008-8, MGI:llw2, PMID:10882512] is_a: MP:0009661 ! abnormal pregnancy [Term] id: MP:0001728 name: failure of embryo implantation def: "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" [PMID:10882512] synonym: "failure of implantation" EXACT [] is_a: MP:0001727 ! abnormal embryo implantation [Term] id: MP:0001729 name: impaired embryo implantation def: "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" [ISBN:0-683-40008-8, PMID:10882512] synonym: "abnormal blastocyst activation" RELATED [] synonym: "abnormal blastocyst competency" RELATED [] synonym: "defective implantation" EXACT [] synonym: "impaired implantation" EXACT [] is_a: MP:0001727 ! abnormal embryo implantation [Term] id: MP:0001730 name: embryonic growth arrest def: "the cessation of development beyond a particular stage" [J:17509] synonym: "arrested embryonic development" EXACT [] is_a: MP:0001672 ! abnormal embryo development [Term] id: MP:0001731 name: abnormal postnatal growth def: "anomaly in reaching a developmental stage or stages after birth" [MGI:il] synonym: "abnormal growth after birth" EXACT [] is_a: MP:0002089 ! abnormal postnatal growth/weight/body size [Term] id: MP:0001732 name: postnatal growth retardation def: "slow or limited development after birth" [ISBN:0-683-40008-8] synonym: "atelia" NARROW [] synonym: "ateliosis" NARROW [] synonym: "decreased growth rate" EXACT [] synonym: "reduced growth rate" EXACT [] synonym: "retarded growth after birth" EXACT [] synonym: "stunted growth" EXACT [] is_a: MP:0001731 ! abnormal postnatal growth [Term] id: MP:0001734 name: obsolete abnormal endocrine organ def: "OBSOLETE. any structural anomaly of any of the glands that have no ducts, their secretions being absorbed directly into the blood" [ISBN:0-683-40008-8] is_obsolete: true consider: MP:0002163 consider: MP:0002164 [Term] id: MP:0001739 name: abnormal adrenal gland secretion def: "altered ability of the surparenal gland to produce or secrete hormones" [MGI:hdene] synonym: "abnormal adrenal secretion" RELATED [] is_a: MP:0002909 ! abnormal adrenal gland physiology [Term] id: MP:0001740 name: failure of adrenal epinephrine secretion def: "inability of adrenal gland to deliver epinephrine into the blood stream" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:10357937] synonym: "failure of adrenaline secretion" EXACT [] synonym: "failure of epinephrine secretion" EXACT [] is_a: MP:0001739 ! abnormal adrenal gland secretion [Term] id: MP:0001741 name: obsolete decreased adrenaline synthesis def: "OBSOLETE. less than the normal formation of this catecholamine hormone that stimulates the adrenergic receptors" [ISBN:0-683-40008-8, MGI:cwg] synonym: "decreased epinephrine synthesis" EXACT [] synonym: "reduced adrenaline synthesis" EXACT [] synonym: "reduced epinephrine synthesis" EXACT [] is_obsolete: true [Term] id: MP:0001742 name: absent circulating adrenaline def: "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" [ISBN:0-683-40008-8] synonym: "absence of circulating adrenaline" EXACT [] synonym: "absence of epinephrine" EXACT [] is_a: MP:0005660 ! abnormal circulating adrenaline level [Term] id: MP:0001743 name: absent circulating noradrenaline def: "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" [ISBN:0198506732] synonym: "absence of noradrenaline" EXACT [] synonym: "absence of norepinephrine" EXACT [] is_a: MP:0005663 ! abnormal circulating noradrenaline level [Term] id: MP:0001744 name: hypersecretion of corticosterone def: "increased release of this adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] is_a: MP:0001739 ! abnormal adrenal gland secretion [Term] id: MP:0001745 name: increased circulating corticosterone level def: "greater than the normal blood amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:10357937] synonym: "elevated serum levels of corticosterone" NARROW [] synonym: "hypercorticosteronaemia" EXACT [] synonym: "hypercorticosteronemia" EXACT [] is_a: MP:0003367 ! increased circulating glucocorticoid level is_a: MP:0005345 ! abnormal circulating corticosterone level [Term] id: MP:0001746 name: abnormal pituitary secretion def: "anomaly in the production and/or release of biologically active substances from pituitary tissue" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0005646 ! abnormal pituitary gland physiology [Term] id: MP:0001747 name: hypersecretion of adrenocorticotropin def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "hypersecretion of ACTH" EXACT [] is_a: MP:0003347 ! hyperpituitarism [Term] id: MP:0001748 name: increased circulating adrenocorticotropin level def: "elevated concentration in the blood of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8, PMID:10357937] synonym: "elevated serum levels of ACTH" NARROW [] synonym: "increased serum levels of ACTH" NARROW [] synonym: "increased serum levels of adrenocorticotropic hormone" NARROW [] synonym: "increased serum levels of adrenocorticotropin" NARROW [] synonym: "increased serum levels of adrenotropic hormone" NARROW [] synonym: "increased serum levels of adrenotropin" NARROW [] is_a: MP:0005117 ! increased circulating pituitary hormone level is_a: MP:0005129 ! increased adrenocorticotropin level [Term] id: MP:0001749 name: suppressed circulating follicle stimulating hormone level def: "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" [ISBN:0-683-40008-8] synonym: "suppressed follicle stimulating hormone levels" EXACT [] synonym: "suppressed FSH levels" EXACT [] is_a: MP:0002790 ! decreased circulating follicle stimulating hormone level [Term] id: MP:0001750 name: increased circulating follicle stimulating hormone level def: "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" [ISBN:0-683-40008-8, J:35782] synonym: "increased serum levels of follicle stimulating hormone" NARROW [] synonym: "increased serum levels of follitropin" NARROW [] synonym: "increased serum levels of FSH" NARROW [] synonym: "increased serum levels of gametokinetic hormone" NARROW [] is_a: MP:0003362 ! increased circulating gonadotropin level is_a: MP:0005117 ! increased circulating pituitary hormone level is_a: MP:0005131 ! increased follicle stimulating hormone level [Term] id: MP:0001751 name: increased circulating luteinizing hormone level def: "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" [MESH:D06.472.699.322.576.463] synonym: "increased circulating luteinising hormone level" EXACT [] synonym: "increased serum levels of LH" NARROW [] synonym: "increased serum levels of luteinising hormone" NARROW [] synonym: "increased serum levels of luteinizing hormone" NARROW [] synonym: "increased serum levels of lutropin" NARROW [] is_a: MP:0003362 ! increased circulating gonadotropin level is_a: MP:0005117 ! increased circulating pituitary hormone level is_a: MP:0005133 ! increased luteinizing hormone level [Term] id: MP:0001752 name: abnormal hypothalamus secretion def: "altered ability of the hypothalamus to produce or release biologically active substances" [MGI:cwg] is_a: MP:0005645 ! abnormal hypothalamus physiology [Term] id: MP:0001753 name: hypersecretion of corticotropin-releasing hormone def: "excessive release of this factor, which normally stimulates the pituitary to release adrenocorticotropic hormone, from the hypothalamus" [ISBN:0-683-40008-8, MGI:cwg] synonym: "hypersecretion of CRH" EXACT [] is_a: MP:0001752 ! abnormal hypothalamus secretion [Term] id: MP:0001754 name: increased circulating corticotropin-releasing hormone level def: "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" [PMID:10471508] synonym: "elevated serum levels of corticotropin-releasing hormone" NARROW [] synonym: "elevated serum levels of CRH" NARROW [] is_a: MP:0014456 ! increased circulating hormone level [Term] id: MP:0001755 name: obsolete abnormal excretion physiology def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "excretion defects" EXACT [] synonym: "excretion physiological abnormalities" EXACT [] is_obsolete: true consider: MP:0001663 consider: MP:0001756 [Term] id: MP:0001756 name: abnormal urination def: "anomaly in the process in which parasympathetic nerves stimulate the bladder wall muscle to contract resulting in the expulsion of urine from the body" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC synonym: "abnormal micturition" EXACT [] synonym: "abnormal urine voiding" RELATED [] xref: GO:0060073 is_a: MP:0005502 ! abnormal renal/urinary system physiology [Term] id: MP:0001758 name: abnormal urine glucose level def: "any change in the amount of glucose in the urine" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002078 ! abnormal glucose homeostasis is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0001759 name: increased urine glucose level def: "a greater amount of glucose in the urine compared to the normal state" [https://orcid.org/0000-0003-3691-0324] synonym: "glucosuria" EXACT [] synonym: "glycosuria" EXACT [] is_a: MP:0001758 ! abnormal urine glucose level [Term] id: MP:0001760 name: abnormal urine enzyme level def: "any change in the level of enzymes in the urine" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0001761 name: abnormal urination pattern def: "increased or decreased frequency of urination episodes, or extended periods of anuria" [https://orcid.org/0000-0003-4606-0597] is_a: MP:0001756 ! abnormal urination [Term] id: MP:0001762 name: polyuria def: "increased volume of urine produced and excreted" [https://orcid.org/0000-0003-4606-0597, MGI:cwg] comment: Clinicians sometimes mistakenly label increased urinary frequency as polyuria (increased urine output); Though rarely used, pollakisuria (or pollakiuria) is the correct term for increased frequency of urination. subset: IMPC subset: Sanger_Terms synonym: "diuresis" EXACT [] synonym: "increased urine output" EXACT [] synonym: "increased urine volume" EXACT [] is_a: MP:0001756 ! abnormal urination [Term] id: MP:0001763 name: obsolete Infrequent Urination def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0001761 [Term] id: MP:0001764 name: abnormal homeostasis def: "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" [ISBN:0-683-40008-8] synonym: "abnormal homeostatic process" EXACT [] synonym: "homeostasis abnormalities" EXACT [] is_a: MP:0005376 ! homeostasis/metabolism phenotype [Term] id: MP:0001765 name: abnormal ion homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of charged molecules in the fluids and tissues" [MGI:cwg] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0001766 name: obsolete abnormal aluminum level def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001770 name: abnormal iron level alt_id: MP:0000209 alt_id: MP:0001581 def: "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" [ISBN:0-683-40008-8] is_a: MP:0000192 ! abnormal mineral level is_a: MP:0005637 ! abnormal iron homeostasis [Term] id: MP:0001771 name: abnormal circulating magnesium level def: "any anomaly in the blood concentration of magnesium" [ISBN:0-683-40008-8] synonym: "abnormal blood magnesium level" EXACT [] is_a: MP:0006357 ! abnormal circulating mineral level is_a: MP:0020883 ! abnormal magnesium level [Term] id: MP:0001775 name: abnormal selenium level def: "any anomaly in the concentration of selenium, which is required for glutathione peroxidase and other enzymes" [ISBN:0-683-40008-8] is_a: MP:0000192 ! abnormal mineral level [Term] id: MP:0001776 name: abnormal circulating sodium level def: "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" [ISBN:0-683-40008-8] synonym: "abnormal blood sodium level" EXACT [] is_a: MP:0006357 ! abnormal circulating mineral level is_a: MP:0020889 ! abnormal sodium level [Term] id: MP:0001777 name: abnormal body temperature homeostasis def: "any anomaly in the process in which an organism modulates or maintains its internal body temperature" [GO:0001659, https://orcid.org/0000-0003-3691-0324] synonym: "abnormal body temperature regulation" EXACT [] synonym: "abnormal temperature regulation" EXACT [] synonym: "abnormal thermoregulation" EXACT [] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0001778 name: abnormal brown adipose tissue amount alt_id: MP:0000004 def: "anomaly in the amount of the thermogenic form of adipose tissue that is composed of brown adipocytes" [MGI:cwg] synonym: "abnormal brown fat amount" EXACT [] is_a: MP:0002971 ! abnormal brown adipose tissue morphology is_a: MP:0005452 ! abnormal adipose tissue amount [Term] id: MP:0001780 name: decreased brown adipose tissue amount alt_id: MP:0000006 def: "reduced quantity of the thermogenic form of adipose tissue that is composed of brown adipocytes" [MGI:cwg] synonym: "decreased brown fat" EXACT [] synonym: "decreased brown fat amount" RELATED [] synonym: "reduced brown fat" EXACT [] synonym: "reduced brown fat amount" EXACT [] is_a: MP:0001778 ! abnormal brown adipose tissue amount [Term] id: MP:0001781 name: abnormal white adipose tissue amount alt_id: MP:0000007 def: "anomaly in the quantity of the white fat-storing cells/tissue" [MGI:cwg] synonym: "abnormal white fat amount" EXACT [] is_a: MP:0002970 ! abnormal white adipose tissue morphology is_a: MP:0005452 ! abnormal adipose tissue amount [Term] id: MP:0001783 name: decreased white adipose tissue amount alt_id: MP:0000009 def: "reduced quantity of fat-storing cells/tissue" [MGI:cwg] synonym: "decreased white fat" EXACT [] synonym: "decreased white fat amount" EXACT [] synonym: "reduced white adipose tissue amount" EXACT [] synonym: "reduced white fat" EXACT [] synonym: "reduced white fat amount" EXACT [] is_a: MP:0001781 ! abnormal white adipose tissue amount [Term] id: MP:0001784 name: abnormal fluid regulation def: "any anomaly in the control of intracellular and/or extracellular fluid" [MGI:cwg] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0001785 name: edema alt_id: MP:0001338 def: "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [ISBN:0-683-40008-8] subset: IMPC_Prenatal subset: Sanger_Terms synonym: "oedema" EXACT [] is_a: MP:0001784 ! abnormal fluid regulation [Term] id: MP:0001786 name: skin edema alt_id: MP:0001207 def: "accumulation of an excessive amount of fluid in the skin layers or just underneath the skin" [J:65039] synonym: "skin oedema" EXACT [] synonym: "subcutaneous edema" RELATED [] synonym: "subcutaneous oedema" RELATED [] is_a: MP:0001191 ! abnormal skin condition is_a: MP:0001785 ! edema [Term] id: MP:0001787 name: pericardial edema alt_id: MP:0000290 def: "accumulation of watery fluid in the pericardial sac of the heart" [J:52597] synonym: "pericardial oedema" EXACT [] synonym: "pericardial sac edema" EXACT [] synonym: "pericardial sac oedema" EXACT [] synonym: "pericardium edema" EXACT [] synonym: "pericardium oedema" EXACT [] is_a: MP:0001785 ! edema is_a: MP:0012501 ! abnormal pericardial cavity morphology [Term] id: MP:0001788 name: periorbital edema alt_id: MP:0001339 def: "accumulation of an excessive amount of fluid in the area around the orbit" [MGI:tc, PMID:10716451] synonym: "periorbital oedema" EXACT [] is_a: MP:0001785 ! edema is_a: MP:0030038 ! abnormal periorbital region morphology [Term] id: MP:0001790 name: abnormal immune system physiology alt_id: MP:0001789 def: "deviation from the normal function of the immune system" [MGI:cwg] synonym: "immune system/response abnormalities" EXACT [] synonym: "immune system: response/ function abnormalities" EXACT [] xref: GO:0006955 is_a: MP:0005387 ! immune system phenotype [Term] id: MP:0001791 name: obsolete immunodeficiency def: "OBSOLETE. defective immune response; can be primary due to defect in immune system or secondary due to disease" [ISBN:0-683-40008-8] is_obsolete: true [Term] id: MP:0001792 name: impaired wound healing def: "reduced ability or inability to self-repair and close wounds" [J:65302, MGI:cwg] synonym: "impaired wound repair" EXACT [] is_a: MP:0005023 ! abnormal wound healing [Term] id: MP:0001793 name: abnormal susceptibility to infection alt_id: MP:0002548 def: "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" [ISBN:0-683-40008-8, MGI:cwg] synonym: "altered resistance to infection" EXACT [] synonym: "altered susceptibility to infection" EXACT [] is_a: MP:0005025 ! abnormal response to infection [Term] id: MP:0001794 name: obsolete Bacterial def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001795 name: obsolete Gram Negative def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001796 name: obsolete Gram Positive def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001797 name: obsolete Opportunistic Infections of the Intestinal Tract def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001798 name: impaired macrophage phagocytosis def: "reduced ability of macrophage phagocytic cells to internalize particulate matter" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "decreased macrophage phagocytosis" EXACT [] is_a: MP:0002451 ! abnormal macrophage physiology is_a: MP:0008546 ! abnormal vesicle-mediated transport [Term] id: MP:0001799 name: obsolete Viral def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001800 name: abnormal humoral immune response def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:081533642X] synonym: "abnormal humoural immune response" EXACT [https://orcid.org/0000-0002-6490-7723] synonym: "antibody-mediated immune response abnormalities" EXACT [] synonym: "humoral immune response dysfunction" EXACT [] synonym: "humoural immune response dysfunction" EXACT [https://orcid.org/0000-0002-6490-7723] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0001802 name: arrested B cell differentiation alt_id: MP:0002457 def: "inability to produce mature B cells, and accumulation of B cell precursors" [J:52607] synonym: "arrested B cell development" EXACT [] synonym: "arrested B lymphocyte development" EXACT [] synonym: "arrested B-cell development" EXACT [] synonym: "failed B cell maturation" EXACT [] synonym: "failed B lymphocyte maturation" EXACT [] synonym: "failed B-cell maturation" EXACT [] synonym: "failure of B cell maturation" EXACT [] synonym: "failure of B lymphocyte maturation" EXACT [] synonym: "failure of B-cell maturation" EXACT [] is_a: MP:0002144 ! abnormal B cell differentiation [Term] id: MP:0001804 name: obsolete abnormal complement protein physiology def: "OBSOLETE. functional anomaly of any of the complement proteins" [MGI:cwg] synonym: "complement protein dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0001805 name: decreased IgG level alt_id: MP:0001815 def: "less than normal immunoglobulin class G level" [MGI:cwg] synonym: "decreased serum level of immunoglobulin G" NARROW [] synonym: "hypogammaglobulinemia" EXACT [] synonym: "reduced IgG level" EXACT [] is_a: MP:0002460 ! decreased immunoglobulin level is_a: MP:0020174 ! abnormal IgG level [Term] id: MP:0001806 name: decreased IgM level alt_id: MP:0001816 def: "less than normal immunoglobulin class M level" [MGI:cwg] subset: Europhenome_Terms subset: IMPC synonym: "decreased serum level of immunoglobulin M" NARROW [] synonym: "reduced IgM level" EXACT [] is_a: MP:0002460 ! decreased immunoglobulin level is_a: MP:0020180 ! abnormal IgM level [Term] id: MP:0001807 name: decreased IgA level def: "less than normal immunoglobulin class A level" [MGI:cwg] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "reduced IgA level" EXACT [] is_a: MP:0002460 ! decreased immunoglobulin level is_a: MP:0020171 ! abnormal IgA level [Term] id: MP:0001808 name: obsolete B cell Immunodeficiency def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0008071 [Term] id: MP:0001809 name: obsolete Abnormal Immunoglobulin Production def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0002490 [Term] id: MP:0001817 name: obsolete abnormal antibody production def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0002459 consider: MP:0002490 [Term] id: MP:0001818 name: obsolete abnormal antibody titer def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0002459 consider: MP:0002490 [Term] id: MP:0001819 name: abnormal immune cell physiology def: "any functional anomaly of the cells of the immune system" [MGI:cwg] synonym: "immune cell dysfunction" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0001820 name: obsolete abnormal activated B cell number def: "OBSOLETE." [] synonym: "abnormal activated B lymphocyte number" EXACT [] synonym: "abnormal activated B-cell number" EXACT [] is_obsolete: true [Term] id: MP:0001823 name: thymus hypoplasia alt_id: MP:0000707 def: "decrease in the number of normal cells in normal arrangement in the thymus, typically resulting in decreased size" [MGI:cwg] synonym: "decreased thymus cellularity" RELATED [] synonym: "hypoplastic thymus" EXACT [] synonym: "thymic hypoplasia" EXACT [] is_a: MP:0000706 ! small thymus [Term] id: MP:0001824 name: abnormal thymus involution alt_id: MP:0000710 def: "premature or late decline in thymic function normally associated with advancing age" [https://orcid.org/0000-0003-3691-0324, https://orcid.org/0000-0003-4606-0597] synonym: "abnormal thymic involution" EXACT [] synonym: "involuted thymus" EXACT [] is_a: MP:0003763 ! abnormal thymus physiology [Term] id: MP:0001825 name: arrested T cell differentiation def: "failure of T cell formation to proceed past a defined stage" [MGI:cwg] synonym: "arrested T cell development" EXACT [] synonym: "arrested T-cell development" EXACT [] is_a: MP:0002145 ! abnormal T cell differentiation [Term] id: MP:0001828 name: abnormal T cell activation def: "anomaly in the process of producing effector T cells from naive T cells" [ISBN:0-8153-1691-7, MGI:cwg] comment: This process requires recognition of a foreign peptide fragment bound to self-MHC and the simultaneous delivery of a co-stimulatory signal by an antigen presenting cell; it results in the clonal expansion of naive T cells and their differentiation into armed effector cells. synonym: "abnormal T-cell activation" EXACT [] is_a: MP:0002444 ! abnormal T cell physiology [Term] id: MP:0001829 name: increased activated T cell number alt_id: MP:0000320 def: "greater than normal numbers of effector T cells" [MGI:cwg] synonym: "increased activated T-cell number" EXACT [] is_a: MP:0005015 ! increased T cell number [Term] id: MP:0001830 name: decreased activated T cell number alt_id: MP:0000331 def: "reduced numbers of effector T cells" [MGI:cwg] synonym: "decreased activated T-cell number" EXACT [] synonym: "reduced activated T cell number" EXACT [] is_a: MP:0005018 ! decreased T cell number [Term] id: MP:0001831 name: obsolete T cell immunodeficiency alt_id: MP:0002537 def: "OBSOLETE.defective immune response due to defective T-lymphocyte response" [ISBN:0-683-40008-8] synonym: "T-cell deficiency" EXACT [] synonym: "T-cell immunodeficiency" EXACT [] is_obsolete: true consider: MP:0008070 [Term] id: MP:0001832 name: obsolete CD4-Positive cell immunodeficiency def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0003790 [Term] id: MP:0001833 name: obsolete CD8- Positive cell immunodeficiency def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0000727 [Term] id: MP:0001834 name: obsolete macrophage immunodeficiency/impairment def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0002451 [Term] id: MP:0001835 name: abnormal antigen presentation def: "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" [GO:0019882] synonym: "antigen presentation dysfunction" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0001836 name: abnormal antigen presentation via MHC class I def: "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" [MGI:cwg] synonym: "inability to present cytosolic antigens to Class-I restricted cytotoxic T cells" EXACT [] is_a: MP:0001835 ! abnormal antigen presentation [Term] id: MP:0001837 name: defective assembly of class I molecules def: "impaired production of major histocompatibility complex class I molecules" [MGI:cwg] is_a: MP:0001836 ! abnormal antigen presentation via MHC class I [Term] id: MP:0001838 name: defective intracellular transport of class I molecules def: "impaired ability to move major histocompatibility complex class I molecules to the cell surface" [MGI:cwg] is_a: MP:0001836 ! abnormal antigen presentation via MHC class I [Term] id: MP:0001839 name: abnormal level of surface class I molecules def: "deviation from the normal concentration of major histocompatibility complex class I molecules expressed at the cell surface" [ISBN:0-8153-1691-7, MGI:cwg] comment: Almost all nucleated blood cells express class I molecules on their surfaces (red blood cells, being non-nucleated, do not); MHC class I molecules present peptides from pathogens in the cytosol (often viruses) to CD8 T cells. is_a: MP:0001836 ! abnormal antigen presentation via MHC class I [Term] id: MP:0001840 name: increased level of surface class I molecules def: "greater than normal expression of major histocompatibility complex class I molecules at the cell surface" [MGI:cwg] is_a: MP:0001839 ! abnormal level of surface class I molecules [Term] id: MP:0001841 name: decreased level of surface class I molecules def: "reduced expression of major histocompatibility complex class I molecules at the cell surface" [MGI:cwg] synonym: "reduced level of surface class I molecules" EXACT [] is_a: MP:0001839 ! abnormal level of surface class I molecules [Term] id: MP:0001842 name: obsolete inability to present cytosolic antigens to Class-I restricted cytotoxic T cells def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001844 name: autoimmune response def: "condition in which cells and/or antibodies arise from and are directed against one's own tissues" [ISBN:0-683-40008-8] is_a: MP:0005005 ! abnormal self tolerance [Term] id: MP:0001845 name: abnormal inflammatory response def: "aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues" [ISBN:0-397-51047-0] synonym: "inflammation" EXACT [] synonym: "inflammatory response" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0001846 name: increased inflammatory response def: "greater than expected response to injury, infection, or insult" [MGI:cwg] is_a: MP:0001845 ! abnormal inflammatory response [Term] id: MP:0001847 name: brain inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the brain" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "encephalitis" EXACT [] is_a: MP:0006082 ! CNS inflammation [Term] id: MP:0001848 name: choroid inflammation def: "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" [ISBN:0-8153-1691-7] synonym: "choroiditis" EXACT [] is_a: MP:0001851 ! eye inflammation [Term] id: MP:0001849 name: ear inflammation def: "local accumulation of fluid, plasma proteins and leukocytes in the ear" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0003878 ! abnormal ear physiology [Term] id: MP:0001850 name: increased susceptibility to otitis media alt_id: MP:0000050 def: "greater likelihood of middle ear inflammation, with an accumulation of a thick, mucous-like fluid; usually associated with a viral or bacterial respiratory infection" [ISBN:0-683-40008-8, PMID:10716451] is_a: MP:0001849 ! ear inflammation [Term] id: MP:0001851 name: eye inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the eye" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0001852 name: conjunctivitis alt_id: MP:0001311 def: "inflammation of the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball" [ISBN:0-683-40008-8, PMID:10716451] is_a: MP:0001851 ! eye inflammation [Term] id: MP:0001853 name: heart inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the heart" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "cardiac inflammation" EXACT [] synonym: "carditis" EXACT [] is_a: MP:0001544 ! abnormal cardiovascular system physiology is_a: MP:0001846 ! increased inflammatory response [Term] id: MP:0001854 name: atrial endocarditis def: "inflammation affecting the atrial chambers of the heart" [MGI:cwg] is_a: MP:0001853 ! heart inflammation [Term] id: MP:0001855 name: abnormal atrial thrombosis def: "any anomaly in the formation or presence of one or more thrombi in the atria of the heart" [MGI:cwg] synonym: "abnormal cardiac atrial thrombosis" EXACT [] synonym: "abnormal heart atrial thrombosis" EXACT [] synonym: "abnormal heart atrium thrombosis" EXACT [] is_a: MP:0020409 ! abnormal cardiac thrombosis [Term] id: MP:0001856 name: myocarditis def: "inflammation of the heart walls" [MESH:C14.280.238.625, MGI:cwg] is_a: MP:0001853 ! heart inflammation [Term] id: MP:0001857 name: pericarditis def: "inflammation of the pericardium, the fibroserous sac surrounding the heart and the roots of the great vessels" [MESH:C14.280.720, MGI:cwg] is_a: MP:0001853 ! heart inflammation [Term] id: MP:0001858 name: intestinal inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the intestine" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "g.i. inflammation" BROAD [] synonym: "gastrointestinal inflammation" BROAD [] synonym: "inflammation of intestine" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0010155 ! abnormal intestine physiology [Term] id: MP:0001859 name: kidney inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the kidney" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "nephritis" EXACT [] synonym: "renal inflammation" EXACT [] is_a: MP:0002136 ! abnormal kidney physiology is_a: MP:0011762 ! renal/urinary system inflammation [Term] id: MP:0001860 name: liver inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the liver" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "hepatic inflammation" EXACT [] synonym: "hepatitis" EXACT [] is_a: MP:0000609 ! abnormal liver physiology is_a: MP:0001846 ! increased inflammatory response [Term] id: MP:0001861 name: lung inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the lung" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "pneumonia" EXACT [] synonym: "pulmonary inflammation" EXACT [] is_a: MP:0002405 ! respiratory system inflammation [Term] id: MP:0001862 name: interstitial pneumonia def: "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" [ISBN:0-683-40008-8] synonym: "interstitial pneumonitis" EXACT [] is_a: MP:0001861 ! lung inflammation [Term] id: MP:0001863 name: blood vessel inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in a blood vessel" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "angiitis" RELATED [] synonym: "vasculitis" RELATED [] is_a: MP:0000249 ! abnormal blood vessel physiology is_a: MP:0001846 ! increased inflammatory response is_a: MP:0001864 ! vascular inflammation [Term] id: MP:0001864 name: vascular inflammation def: "inflammation of any blood and/or lymphatic vessel" [ISBN:0-683-40008-8, MGI:cwg] synonym: "vessel inflammation" EXACT [] is_a: MP:0031170 ! abnormal vasculature physiology [Term] id: MP:0001866 name: nasal inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the proximal portion of the respiratory passages" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0002405 ! respiratory system inflammation [Term] id: MP:0001867 name: rhinitis alt_id: MP:0001113 def: "inflammation of the mucous membrane of the nose" [ISBN:0-683-40008-8, MGI:tc, PMID:10716451] synonym: "nasal catarrh" EXACT [] is_a: MP:0001866 ! nasal inflammation [Term] id: MP:0001868 name: ovary inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the ovary" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "oophoritis" EXACT [] synonym: "ovarian inflammation" EXACT [] is_a: MP:0002254 ! reproductive system inflammation is_a: MP:0003507 ! abnormal ovary physiology [Term] id: MP:0001869 name: pancreas inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the pancreas" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "pancreatic inflammation" EXACT [] synonym: "pancreatitis" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0002693 ! abnormal pancreas physiology [Term] id: MP:0001870 name: salivary gland inflammation alt_id: MP:0000625 alt_id: MP:0000626 alt_id: MP:001871 def: "local accumulation of fluid, plasma proteins, and leukocytes in one or more salivary glands" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "increased inflammatory response of the salivary glands" EXACT [] synonym: "salivary gland adenitis" EXACT [] synonym: "sialadenitis" EXACT [] synonym: "sialitis" EXACT [] synonym: "sialoadenitis" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0005310 ! abnormal salivary gland physiology [Term] id: MP:0001872 name: sinus inflammation def: "increase in susceptibility of the hollow cavities in bone (usually but not exclusively those in the skull) to allergens and/or pathogens" [MGI:tc, PMID:10716451] synonym: "sinusitis" EXACT [] is_a: MP:0002405 ! respiratory system inflammation [Term] id: MP:0001873 name: stomach inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the stomach" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "gastritis" EXACT [] is_a: MP:0001663 ! abnormal digestive system physiology is_a: MP:0001846 ! increased inflammatory response [Term] id: MP:0001874 name: acanthosis def: "diffuse hyperplasia of the spinous layer of the skin" [ISBN:0-683-40008-8, MGI:cwg] synonym: "spinous layer hyperplasia" BROAD [] is_a: MP:0009611 ! epidermis stratum spinosum hyperplasia [Term] id: MP:0001875 name: testis inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the testis" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "orchitis" EXACT [] synonym: "testicle inflammation" EXACT [] synonym: "testicular inflammation" EXACT [] is_a: MP:0002254 ! reproductive system inflammation is_a: MP:0004884 ! abnormal testis physiology [Term] id: MP:0001876 name: decreased inflammatory response def: "less than expected response to injury, infection, or insult" [MGI:cwg] synonym: "reduced inflammatory response" EXACT [] is_a: MP:0001845 ! abnormal inflammatory response [Term] id: MP:0001877 name: obsolete dysregulated inflammatory response def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001879 name: abnormal lymphatic vessel morphology alt_id: MP:0000309 alt_id: MP:0001638 alt_id: MP:0001639 def: "any structural anomaly of any component of the network of vessels that carries lymph around the body" [ISBN:0-683-40008-8, MGI:tc] synonym: "abnormal lymph vessel morphology" EXACT [] synonym: "lymphatic system abnormalities" BROAD [] synonym: "lymphatic system dysplasia" EXACT [] is_a: MP:0000685 ! abnormal immune system morphology [Term] id: MP:0001881 name: abnormal mammary gland physiology def: "any functional anomaly of the compound, alveolar and apocrine milk-secreting gland that lies within the breast" [ISBN:0-683-40008-8] synonym: "abnormal breast physiology" EXACT [] synonym: "abnormal Brustdruese physiology" EXACT [] synonym: "abnormal glandula mammaria physiology" EXACT [] synonym: "abnormal Lactiferous gland physiology" EXACT [] synonym: "abnormal lactiferous gland physiology" EXACT [] synonym: "abnormal Lobe of breast physiology" EXACT [] synonym: "abnormal lobe of breast physiology" EXACT [] synonym: "abnormal Lobe of mammary gland physiology" EXACT [] synonym: "abnormal lobe of mammary gland physiology" EXACT [] synonym: "abnormal mamma physiology" EXACT [] synonym: "abnormal mammae physiology" EXACT [] synonym: "abnormal mammary gland function" EXACT [] synonym: "mammary gland abnormalities" BROAD [] is_a: MP:0010680 ! abnormal skin adnexa physiology is_a: MP:0013555 ! abnormal apocrine gland physiology [Term] id: MP:0001882 name: abnormal lactation alt_id: MP:0001383 def: "atypical production of milk from the mammary gland" [J:51296] synonym: "lactation abnormalities" EXACT [] synonym: "lactation defects" EXACT [] is_a: MP:0001881 ! abnormal mammary gland physiology [Term] id: MP:0001883 name: increased mammary adenocarcinoma incidence alt_id: MP:0002011 def: "higher than normal incidence of malignant tumors of the mammary gland" [https://orcid.org/0000-0003-4606-0597] synonym: "mammary adenocarcinoma" RELATED [] synonym: "mammary carcinoma" RELATED [] synonym: "mammary gland adenocarcinoma" RELATED [] synonym: "mammary gland carcinoma" RELATED [] is_a: MP:0009308 ! increased adenocarcinoma incidence is_a: MP:0010299 ! increased mammary gland tumor incidence [Term] id: MP:0001884 name: mammary gland alveolar hyperplasia def: "increase in the number of normal cells in normal arrangement in the mammary gland alveoli, typically resulting in increased size" [https://orcid.org/0000-0003-3691-0324] synonym: "hyperplastic mammary gland alveoli" EXACT [] synonym: "mammary alveolar hyperplasia" EXACT [] is_a: MP:0009506 ! abnormal mammary gland alveolus morphology [Term] id: MP:0001885 name: mammary gland duct hyperplasia def: "increase in the number of normal cells in normal arrangement in the mammary gland ducts, typically resulting in increased size" [https://orcid.org/0000-0003-3691-0324] synonym: "hyperplastic mammary gland ducts" EXACT [] synonym: "mammary ductal hyperplasia" RELATED [] is_a: MP:0009503 ! abnormal mammary gland duct morphology [Term] id: MP:0001886 name: obsolete nervous system physiology abnormalities def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal nervous system physiology" EXACT [] is_obsolete: true replaced_by: MP:0003633 [Term] id: MP:0001889 name: delayed brain development def: "the delay or slower progress of the growth and differentiation of the brain" [J:81818, MGI:il] synonym: "developmental retardation of the brain" EXACT [] is_a: MP:0000913 ! abnormal brain development [Term] id: MP:0001890 name: anencephaly alt_id: MP:0000915 def: "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" [https://orcid.org/0000-0002-6490-7723, https://orcid.org/0000-0003-3691-0324] subset: CvDC_Terms synonym: "anencephalia" EXACT [] xref: Fyler:4332 is_a: MP:0003861 ! abnormal nervous system development [Term] id: MP:0001891 name: hydrocephaly alt_id: MP:0000916 def: "excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [ISBN:0-683-40008-8, MESH:C10.228.140.602] subset: IMPC subset: Sanger_Terms synonym: "hydrocephalus" EXACT [] synonym: "hydroencephaly" EXACT [] is_a: MP:0000913 ! abnormal brain development is_a: MP:0002200 ! abnormal brain ventricular system morphology [Term] id: MP:0001893 name: non-obstructive hydrocephaly alt_id: MP:0000918 def: "abnormal cerebrospinal fluid absorption where there is no obstruction to fluid flow in the ventricular system" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "Communicating Hydrocephalus" EXACT [] synonym: "communicating hydrocephaly" EXACT [] is_a: MP:0001891 ! hydrocephaly [Term] id: MP:0001895 name: obsolete abnormal hippocampus function def: "OBSOLETE. any anomaly in the activity of the deep lying structure of the cerebrum involved with memory storage" [MGI:hdene] is_obsolete: true [Term] id: MP:0001898 name: abnormal long-term depression alt_id: MP:0001474 def: "change from the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of neurons" [https://orcid.org/0000-0003-3691-0324, ISBN:0838580343] synonym: "abnormal long term depression" EXACT [] synonym: "abnormal LTD" EXACT [] is_a: MP:0002915 ! abnormal synaptic depression [Term] id: MP:0001899 name: absent long-term depression def: "lack of the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of CA1 neurons" [https://orcid.org/0000-0003-3691-0324, ISBN:0838580343] synonym: "absent long term depression" EXACT [] synonym: "absent LTD" EXACT [] is_a: MP:0001898 ! abnormal long-term depression [Term] id: MP:0001900 name: impaired synaptic plasticity def: "decrease or inability of a synapse to change its strength as a result of successive activations" [https://orcid.org/0000-0003-3691-0324, ISBN:0838580343] is_a: MP:0004859 ! abnormal synaptic plasticity is_a: MP:0021010 ! impaired synaptic physiology [Term] id: MP:0001901 name: absence of NMDA-mediated synaptic currents def: "absence of a measured amplitude, current density or duration of response to stimulation of NMDA receptors" [https://orcid.org/0000-0003-3691-0324] synonym: "absence of NMDA -mediated synaptic currents: CA1 region" EXACT [] is_a: MP:0002888 ! abnormal NMDA-mediated synaptic currents [Term] id: MP:0001902 name: reduced NMDA-mediated synaptic currents def: "reduction in the measured amplitude, current density or duration of response to stimulation of NMDA receptors" [https://orcid.org/0000-0003-3691-0324] synonym: "reduced NMDA -mediated synaptic currents: CA1 region" EXACT [] is_a: MP:0002888 ! abnormal NMDA-mediated synaptic currents [Term] id: MP:0001903 name: obsolete reduced NMDA receptor glycine affinity: hippocampus def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001904 name: obsolete impaired GABA receptor mediated fast inhibition def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001905 name: abnormal dopamine level def: "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" [MESH:D02.092.211.215.311.342, MGI:cwg] synonym: "abnormal dopaminergic levels" EXACT [] is_a: MP:0011479 ! abnormal catecholamine level [Term] id: MP:0001906 name: increased dopamine level def: "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" [MESH:D02.092.211.215.311.342, MGI:cwg] synonym: "increased dopaminergic levels" EXACT [] is_a: MP:0001905 ! abnormal dopamine level [Term] id: MP:0001907 name: obsolete abnormal cerebellar function def: "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" [MGI:cwg] is_obsolete: true [Term] id: MP:0001908 name: abnormal somatosensory cortex physiology def: "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" [ISBN:0-683-40008-8, MESH:A08.186.211.730.885.287.500.670.675] synonym: "abnormal somatic sensory cortex function" EXACT [] synonym: "abnormal somatic sensory cortex physiology" EXACT [] synonym: "abnormal somatosensory cortex function" EXACT [] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0001909 name: reduced NMDA receptor mediated synaptic activity in barrel cortex def: "lower than normal levels of excitatory synaptic current in the barrel cortex" [ISBN:0838580343, J:64064] is_a: MP:0001908 ! abnormal somatosensory cortex physiology is_a: MP:0002888 ! abnormal NMDA-mediated synaptic currents [Term] id: MP:0001911 name: abnormal cerebrospinal fluid production def: "anomaly in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord" [ISBN:0-683-40008-8] is_a: MP:0021024 ! abnormal cerebrospinal fluid physiology [Term] id: MP:0001912 name: increased cerebrospinal fluid production def: "increase in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord" [ISBN:0-683-40008-8] is_a: MP:0001911 ! abnormal cerebrospinal fluid production [Term] id: MP:0001913 name: decreased cerebrospinal fluid production def: "reduction in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord" [ISBN:0-683-40008-8] synonym: "reduced cerebrospinal fluid production" EXACT [] is_a: MP:0001911 ! abnormal cerebrospinal fluid production [Term] id: MP:0001914 name: hemorrhage alt_id: MP:0001635 def: "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" [ISBN:0-683-40008-8] subset: IMPC_Prenatal subset: Sanger_Terms synonym: "bleeding" EXACT [] synonym: "haemorrhage" EXACT [] is_a: MP:0002128 ! abnormal blood circulation [Term] id: MP:0001915 name: intracranial hemorrhage def: "bleeding within the skull, including hemorrhage into the brain and within the cranial epidural, subdural, and subarachnoid spaces" [https://orcid.org/0000-0003-3691-0324] synonym: "intracranial bleeding" EXACT [] synonym: "intracranial haemorrhage" EXACT [] is_a: MP:0001634 ! internal hemorrhage is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0001916 name: intracerebral hemorrhage def: "bleeding within the cerebrum" [MGI:cwg] synonym: "cerebral haemorrhage" EXACT [] synonym: "cerebral hemorrhage" EXACT [] synonym: "intracerebral bleeding" EXACT [] synonym: "intracerebral haemorrhage" EXACT [] is_a: MP:0001915 ! intracranial hemorrhage [Term] id: MP:0001917 name: intraventricular hemorrhage def: "bleeding into the brain ventricles" [MGI:cwg] synonym: "intraventricular bleeding" EXACT [] synonym: "intraventricular haemorrhage" EXACT [] is_a: MP:0001916 ! intracerebral hemorrhage [Term] id: MP:0001919 name: abnormal reproductive system physiology def: "any functional anomaly of the organs associated with producing offspring" [https://orcid.org/0000-0003-3691-0324] synonym: "reproductive system physiology anomalies" EXACT [] is_a: MP:0005389 ! reproductive system phenotype [Term] id: MP:0001921 name: reduced fertility alt_id: MP:0001372 def: "diminished physiological ability to produce live offspring" [J:65030] synonym: "decreased fecundity" EXACT [] synonym: "hypofertile" EXACT [] synonym: "semi-sterile" EXACT [] synonym: "semisterile" EXACT [] synonym: "subfertile" EXACT [] synonym: "subfertility" EXACT [] is_a: MP:0002161 ! abnormal fertility/fecundity [Term] id: MP:0001922 name: reduced male fertility def: "reduced physiological ability of a male organism to produce live offspring" [ISBN:0-683-40008-8] synonym: "male subfertility" EXACT [] is_a: MP:0001921 ! reduced fertility is_a: MP:0003698 ! abnormal male reproductive system physiology [Term] id: MP:0001923 name: reduced female fertility def: "reduced physiological ability of a female organism to produce live offspring" [ISBN:0-683-40008-8] synonym: "female subfertility" RELATED [] synonym: "low pregnancy rate" NARROW [] is_a: MP:0001921 ! reduced fertility is_a: MP:0003699 ! abnormal female reproductive system physiology [Term] id: MP:0001924 name: infertility alt_id: MP:0001371 def: "physiological inability to produce live offspring" [J:47225] comment: This term is independent of any anomalies in mating behavior. Consider using abnormal sexual interaction MP:0002566 when anomalies in mating behavior are observed. synonym: "infertile" EXACT [] synonym: "sterile" EXACT [] synonym: "sterility" EXACT [] is_a: MP:0002161 ! abnormal fertility/fecundity [Term] id: MP:0001925 name: male infertility def: "physiological inability of a male organism to produce live offspring" [ISBN:0-683-40008-8] synonym: "male infertile" EXACT [] synonym: "male sterile" EXACT [] synonym: "male sterility" EXACT [] is_a: MP:0001924 ! infertility is_a: MP:0003698 ! abnormal male reproductive system physiology [Term] id: MP:0001926 name: female infertility def: "physiological inability of a female organism to produce live offspring" [ISBN:0-683-40008-8] synonym: "female infertile" EXACT [] synonym: "female sterile" EXACT [] synonym: "female sterility" EXACT [] is_a: MP:0001924 ! infertility is_a: MP:0003699 ! abnormal female reproductive system physiology [Term] id: MP:0001927 name: abnormal estrous cycle def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal estrus cycle" EXACT [] synonym: "abnormal oestrous cycle" EXACT [] is_a: MP:0009344 ! abnormal ovulation cycle [Term] id: MP:0001928 name: abnormal ovulation def: "aberration in the release of an ovum from a rupturing Graafian follicle, normally regulated by a surge in luteinizing hormone" [MGI:cwg] is_a: MP:0003699 ! abnormal female reproductive system physiology [Term] id: MP:0001929 name: abnormal gametogenesis def: "defective formation or differentiation of germ cells" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] is_a: MP:0002160 ! abnormal reproductive system morphology [Term] id: MP:0001930 name: abnormal meiosis def: "anomaly in the process of nuclear division that results in gametes with one half the normal number of the original cell" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0001929 ! abnormal gametogenesis is_a: MP:0003077 ! abnormal cell cycle [Term] id: MP:0001931 name: abnormal oogenesis def: "atypical formation or failure to form the female germ cells" [ISBN:0-683-40008-8, J:35782] is_a: MP:0001929 ! abnormal gametogenesis is_a: MP:0005076 ! abnormal cell differentiation [Term] id: MP:0001932 name: abnormal spermiogenesis def: "anomaly in the process by which a spermatid transforms into a functional spermatozoon" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal spermatid cell development" EXACT [GO:0007286] synonym: "abnormal spermatid development" EXACT [GO:0007286] is_a: MP:0001156 ! abnormal spermatogenesis [Term] id: MP:0001933 name: abnormal litter size def: "deviation from the normal number of live born pups in a litter" [MGI:cwg] is_a: MP:0002161 ! abnormal fertility/fecundity [Term] id: MP:0001934 name: increased litter size alt_id: MP:0002290 def: "greater numbers of live born pups in a litter compared to average" [https://orcid.org/0000-0003-3691-0324] synonym: "large litter size" EXACT [] is_a: MP:0001933 ! abnormal litter size is_a: MP:0010143 ! enhanced fertility [Term] id: MP:0001935 name: decreased litter size alt_id: MP:0002289 def: "fewer live born pups in a litter compared to average" [https://orcid.org/0000-0003-3691-0324] synonym: "reduced litter size" RELATED [] synonym: "small litter size" EXACT [] is_a: MP:0001921 ! reduced fertility is_a: MP:0001933 ! abnormal litter size [Term] id: MP:0001937 name: abnormal sexual maturation def: "a delay or a block in the development of the sexual organs at a given age" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002212 ! abnormal secondary sex determination [Term] id: MP:0001938 name: delayed sexual maturation def: "immaturity of the sexual organs at a given age" [J:61190] synonym: "delayed onset of sexual maturity" EXACT [] synonym: "delayed sexual maturity" EXACT [] is_a: MP:0001937 ! abnormal sexual maturation [Term] id: MP:0001939 name: secondary sex reversal def: "secondary sexual phenotype is not consistent with the chromosomal sex, i.e., internal and/or external genitalia are inconsistent with chromosomal sex" [MGI:llw2] is_a: MP:0002212 ! abnormal secondary sex determination is_a: MP:0005652 ! sex reversal [Term] id: MP:0001940 name: testis hypoplasia def: "decrease in the number of normal cells in normal arrangement in the testis, typically resulting in decreased size" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "hypoplastic testes" EXACT [] synonym: "testes hypoplasia" EXACT [] synonym: "testicle hypoplasia" EXACT [] synonym: "testicular hypoplasia" EXACT [] is_a: MP:0001147 ! small testis [Term] id: MP:0001942 name: abnormal lung volume def: "anomaly in the amount of air that the lungs contain at various points of the respiratory cycle" [MESH:E01.370.386.700.485, MGI:cwg] synonym: "abnormal lung capacity" RELATED [] synonym: "abnormal lung volume measurements" EXACT [] is_a: MP:0001943 ! abnormal respiration [Term] id: MP:0001943 name: abnormal respiration def: "anomaly in the movement of gases into and out of the lung" [ISBN:0-683-40008-8, MGI:cwg] subset: CvDC_Terms synonym: "respiratory anomaly" EXACT [] xref: Fyler:4200 is_a: MP:0002133 ! abnormal respiratory system physiology [Term] id: MP:0001944 name: abnormal pancreas morphology def: "any structural anomaly of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [ISBN:0-683-40008-8, MGI:il] synonym: "pancreas dysplasia" EXACT [] synonym: "pancreatic dysplasia" EXACT [] is_a: MP:0002163 ! abnormal gland morphology [Term] id: MP:0001945 name: bronchoconstriction def: "reduction in the caliber of the bronchus or bronchi" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0002314 ! abnormal respiratory mechanics [Term] id: MP:0001947 name: abnormal mucociliary clearance def: "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" [https://orcid.org/0000-0003-0431-8641, https://orcid.org/0000-0003-3691-0324, MESH:E01.370.386.520] synonym: "abnormal lung bacterial clearance" NARROW [] synonym: "abnormal lung clearance" EXACT [] synonym: "abnormal mucociliary transport" EXACT [] is_a: MP:0002133 ! abnormal respiratory system physiology [Term] id: MP:0001948 name: vesicoureteral reflux def: "the retrograde flow of urine from the bladder into the ureters and kidneys" [https://orcid.org/0000-0002-0371-1954] subset: CvDC_Terms synonym: "vesicoureteric reflux" EXACT [] synonym: "VUR" EXACT [] synonym: "VUX" EXACT [] xref: Fyler:4510 is_a: MP:0002136 ! abnormal kidney physiology [Term] id: MP:0001949 name: obsolete abnormal respiratory dead space def: "OBSOLETE. anomaly in the section of the respiratory tract that does not exchange oxygen and carbon dioxide with pulmonary capillary blood" [MESH:G09.772.765.760, MGI:cwg] is_obsolete: true [Term] id: MP:0001950 name: abnormal respiratory sounds def: "any anomaly in the noises heard over any part of the respiratory tract" [MESH:C23.888.852.779] is_a: MP:0001943 ! abnormal respiration [Term] id: MP:0001951 name: abnormal breathing pattern alt_id: MP:0001955 def: "irregular or atypical breathing pattern, or absence of breathing" [ISBN:0-683-40008-8, PMID:7914451] synonym: "irregular breathing" EXACT [] is_a: MP:0002327 ! abnormal respiratory function [Term] id: MP:0001952 name: increased airway responsiveness def: "more easily provoked into bronchoconstriction in bronchial provocation tests" [MGI:cwg] synonym: "airway hyperresponsiveness" EXACT [] is_a: MP:0002334 ! abnormal airway responsiveness [Term] id: MP:0001953 name: respiratory failure def: "cessation of or failure to commence breathing" [https://orcid.org/0000-0003-3691-0324] subset: IMPC_Prenatal is_a: MP:0014274 ! decreased respiration [Term] id: MP:0001954 name: respiratory distress alt_id: MP:0002317 def: "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" [https://www.timeofcare.com/respiratory-distress-failure-arrest/, ISBN:0-683-40008-8, MESH:C08.618.326, PMID:10357937] synonym: "dyspnea" NARROW [] synonym: "dyspnoea" NARROW [] synonym: "gasping" NARROW [] synonym: "labored breathing" NARROW [] synonym: "laboured breathing" NARROW [] synonym: "shortness of breath" NARROW [] is_a: MP:0001951 ! abnormal breathing pattern [Term] id: MP:0001956 name: hypopnea def: "breathing that is shallower and/or slower than normal" [ISBN:0-683-40008-8, J:64289] synonym: "hypopnoea" EXACT [] is_a: MP:0001951 ! abnormal breathing pattern [Term] id: MP:0001957 name: apnea def: "temporary cessation of breathing; sometimes episodic" [ISBN:0-683-40008-8, MESH:C08.618.085] synonym: "apnoea" EXACT [] is_a: MP:0001951 ! abnormal breathing pattern [Term] id: MP:0001958 name: emphysema def: "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" [ISBN:0-683-40008-8] is_a: MP:0002133 ! abnormal respiratory system physiology is_a: MP:0010911 ! abnormal pulmonary acinus morphology [Term] id: MP:0001959 name: obsolete sensory system physiology/response abnormalities def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal sensory system physiology/response" EXACT [] xref: GO:0007600 is_obsolete: true [Term] id: MP:0001961 name: abnormal reflex alt_id: MP:0001476 def: "anomaly in an involuntary response to a peripheral stimulus" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC is_a: MP:0002067 ! abnormal sensory capabilities/reflexes/nociception is_a: MP:0003492 ! abnormal involuntary movement [Term] id: MP:0001963 name: abnormal hearing physiology alt_id: MP:0001960 alt_id: MP:0002104 def: "any functional anomaly in the ability to perceive auditory stimuli" [ISBN:0-683-40008-8] synonym: "abnormal auditory perception" EXACT [] synonym: "abnormal auditory physiology" EXACT [] synonym: "auditory abnormalities" BROAD [] synonym: "ears: auditory defects/deafness" EXACT [] xref: GO:0007605 xref: MGI:2173555 is_a: MP:0003878 ! abnormal ear physiology [Term] id: MP:0001964 name: obsolete abnormal auditory threshold def: "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" [https://orcid.org/0000-0002-0371-1954] xref: GO:0007605 is_obsolete: true consider: MP:0006335 [Term] id: MP:0001965 name: obsolete increased auditory threshold def: "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" [https://orcid.org/0000-0002-0371-1954] synonym: "hearing disability" EXACT [] synonym: "hearing impairment" EXACT [] is_obsolete: true consider: MP:0006335 [Term] id: MP:0001966 name: obsolete decreased auditory threshold def: "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" [https://orcid.org/0000-0002-0371-1954] synonym: "hypersensitive hearing" EXACT [] is_obsolete: true consider: MP:0006335 [Term] id: MP:0001967 name: deafness def: "inability to hear; the ability to detect and/or recognize certain frequencies of sound is completely impaired" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "complete hearing loss" EXACT [] synonym: "impaired perception of sound" EXACT [] synonym: "impaired sensory perception of sound" EXACT [] xref: Fyler:4868 xref: GO:0007605 is_a: MP:0006325 ! impaired hearing [Term] id: MP:0001968 name: abnormal touch/ nociception def: "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" [MGI:cwg] synonym: "touch/ nociception abnormalities" EXACT [] synonym: "touch/ nociception defects" EXACT [] is_a: MP:0002067 ! abnormal sensory capabilities/reflexes/nociception [Term] id: MP:0001970 name: abnormal pain threshold def: "increased or decreased average level of perception of pain" [J:17792] is_a: MP:0001968 ! abnormal touch/ nociception [Term] id: MP:0001973 name: increased thermal nociceptive threshold def: "a greater than average point at which thermal pain sensation is first detectable" [ISBN:0-471-31639-3] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased thermal nociception" EXACT [] synonym: "prolonged latency in hot plate test" EXACT [] synonym: "thermal hypoalgesia" EXACT [] is_a: MP:0002733 ! abnormal thermal nociception is_a: MP:0003043 ! hypoalgesia [Term] id: MP:0001974 name: obsolete toe pinch def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001975 name: obsolete tail pinch def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001977 name: obsolete tail flick def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001978 name: obsolete prolonged latency in tail flick test def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001980 name: abnormal chemically-elicited antinociception def: "change in the analgesic effect of chemical substances" [MGI:cwg] synonym: "abnormal chemically-elicited analgesia" EXACT [] is_a: MP:0001970 ! abnormal pain threshold [Term] id: MP:0001981 name: increased chemically-elicited antinociception def: "greater than the normal analgesic effect of chemical substances" [MGI:cwg] synonym: "enhanced chemically-elicited antinociception" EXACT [] synonym: "enhanced chemically-induced analgesia" EXACT [] is_a: MP:0001980 ! abnormal chemically-elicited antinociception [Term] id: MP:0001982 name: decreased chemically-elicited antinociception def: "less than the normal analgesic effect of chemical substances" [MGI:cwg] synonym: "reduced chemically-elicited antinociception" EXACT [] synonym: "reduced chemically-induced analgesia" EXACT [] is_a: MP:0001980 ! abnormal chemically-elicited antinociception [Term] id: MP:0001983 name: abnormal olfactory system physiology alt_id: MP:0001110 alt_id: MP:0001111 def: "any functional anomaly of the system relating to smell" [MGI:cwg] synonym: "abnormal olfactory system function" EXACT [] synonym: "olfactory abnormalities" BROAD [] synonym: "olfactory defects" BROAD [] synonym: "olfactory system abnormalities" BROAD [] is_a: MP:0005394 ! taste/olfaction phenotype [Term] id: MP:0001984 name: abnormal olfaction def: "anomaly in the ability to smell" [ISBN:0-683-40008-8] is_a: MP:0001983 ! abnormal olfactory system physiology [Term] id: MP:0001985 name: abnormal gustatory system physiology def: "any functional anomaly in the perception of taste" [ISBN:0-683-40008-8] synonym: "abnormal taste physiology" EXACT [] synonym: "abnormal taste response" EXACT [] is_a: MP:0005394 ! taste/olfaction phenotype [Term] id: MP:0001986 name: abnormal taste sensitivity def: "changes in the ability to perceive a particular flavor(s) or suggestion of something imparting a flavor by the chemoreceptors of the gustatory system" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0001985 ! abnormal gustatory system physiology [Term] id: MP:0001987 name: alcohol preference def: "predilection to ingest alcohol over other substances" [https://orcid.org/0000-0003-3691-0324] synonym: "ethanol preference" EXACT [] is_a: MP:0001423 ! abnormal liquid preference is_a: MP:0001425 ! abnormal alcohol consumption is_a: MP:0002553 ! preference for addictive substance [Term] id: MP:0001988 name: cocaine preference def: "predilection to ingest cocaine over other substances" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002553 ! preference for addictive substance is_a: MP:0020905 ! abnormal cocaine self-administration [Term] id: MP:0001989 name: obsolete saccharin versus water def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001990 name: obsolete water versus saccharin def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0001993 name: abnormal blinking alt_id: MP:0001478 def: "anomaly in the normal reflex of closing the eyes frequently and rapidly" [https://orcid.org/0000-0003-4606-0597] subset: Europhenome_Terms subset: IMPC synonym: "blinking abnormalities" EXACT [] is_a: MP:0001961 ! abnormal reflex [Term] id: MP:0001994 name: increased blinking frequency alt_id: MP:0001479 def: "greater number of occurrences of the normal reflex of closing the eyes frequently and rapidly" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC synonym: "increased blinking" EXACT [] is_a: MP:0001993 ! abnormal blinking [Term] id: MP:0001995 name: decreased blinking frequency alt_id: MP:0001480 def: "reduced number of occurrences of the normal reflex of closing the eyes frequently and rapidly" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC synonym: "decreased blinking" EXACT [] synonym: "reduced blinking frequency" RELATED [] is_a: MP:0001993 ! abnormal blinking [Term] id: MP:0001997 name: obsolete Increased Pupil Constriction def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0002638 [Term] id: MP:0001998 name: obsolete Decreased Pupil Constriction def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0002638 [Term] id: MP:0001999 name: photosensitivity alt_id: MP:0001484 def: "alterations in the response to sunlight or UV irradiation, especially sensitivity of the eyes" [ISBN:0-683-40008-8, MGI:cwg] synonym: "photosensitivity abnormalities" EXACT [] is_a: MP:0001764 ! abnormal homeostasis is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0002001 name: blindness def: "loss of the sense of sight" [ISBN:0-683-40008-8] subset: CvDC_Terms xref: Fyler:4866 is_a: MP:0002090 ! abnormal vision [Term] id: MP:0002002 name: obsolete abnormal response to visual cliff def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002003 name: miotic pupil alt_id: MP:0001481 alt_id: MP:0001996 def: "decreased diameter of one or both pupils due to abnormal constriction of the muscles of the iris" [J:17194] synonym: "abnormal pupil constriction" EXACT [] synonym: "constricted pupils" EXACT [] synonym: "meiotic pupils" RELATED [] synonym: "miotic pupils" EXACT [] synonym: "myotic pupils" EXACT [] synonym: "pinpoint pupils" NARROW [] synonym: "pupillary constriction" EXACT [] synonym: "pupillary miosis" EXACT [] is_a: MP:0001320 ! small pupil [Term] id: MP:0002006 name: neoplasm def: "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" [https://orcid.org/0000-0003-4606-0597, URL:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3262] synonym: "tumorigenesis" NARROW [] synonym: "tumourigenesis" NARROW [] is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0002007 name: increased cellular sensitivity to gamma-irradiation def: "increased incidence of cell death following exposure to gamma-irradiation" [https://orcid.org/0000-0003-4606-0597] synonym: "decreased cellular resistance to gamma-irradiation" EXACT [] synonym: "increased cellular susceptibility to gamma-irradiation" EXACT [] is_a: MP:0004227 ! increased cellular sensitivity to ionizing radiation [Term] id: MP:0002009 name: preneoplasia def: "state preceding the pathological process resulting in a neoplasm; does not necessarily imply cancerous development" [J:47225] is_a: MP:0002166 ! abnormal tumor susceptibility [Term] id: MP:0002010 name: obsolete hepatic microgranulomas def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002012 name: increased trichofolliculoma incidence def: "greater than the expected number of dome-shaped hamartoma tumors which contain multiple abortive and/or misaligned hair follicles" [PMID:23409475] is_a: MP:0009469 ! increased skin hamartoma incidence [Term] id: MP:0002013 name: increased pilomatricoma incidence def: "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" [http://atlasgeneticsoncology.org/Tumors/PilomatricomaID5153.html, https://orcid.org/0000-0003-3691-0324] synonym: "calcifying epithelioma" RELATED [] synonym: "calcifying epithelioma of Malherbe" RELATED [] synonym: "epithelioma of Malherbe" RELATED [] synonym: "pilomatrixoma" RELATED [] synonym: "trichomatricoma" RELATED [] is_a: MP:0010300 ! increased skin tumor incidence [Term] id: MP:0002014 name: increased papilloma incidence def: "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" [MPATH:445] is_a: MP:0010273 ! increased classified tumor incidence [Term] id: MP:0002015 name: epithelioid cyst def: "presence of one or more abnormal membranous sacs in an epithelium" [J:51296] synonym: "epithelial cyst" EXACT [] synonym: "epithelial cysts" EXACT [] synonym: "epithelioid cysts" EXACT [] is_a: MP:0001191 ! abnormal skin condition is_a: MP:0031310 ! abnormal cyst [Term] id: MP:0002016 name: ovary cyst def: "presence of one or more fluid-filled membranous sacs within the ovary" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "cystic ovaries" EXACT [] synonym: "cystic ovary" EXACT [] synonym: "ovarian cyst" EXACT [] synonym: "ovarian cysts" EXACT [] synonym: "ovary cysts" EXACT [] is_a: MP:0001126 ! abnormal ovary morphology is_a: MP:0031310 ! abnormal cyst [Term] id: MP:0002018 name: increased malignant tumor incidence def: "higher than normal incidence of locally invasive, destructive and metastatic tumors" [ISBN:0-683-40008-8] synonym: "increased malignant tumour incidence" EXACT [] synonym: "malignant tumors" RELATED [] synonym: "malignant tumours" RELATED [] is_a: MP:0010273 ! increased classified tumor incidence [Term] id: MP:0002019 name: abnormal tumor incidence def: "deviation from the expected number of abnormal growths in a specific population" [MGI:cwg] synonym: "abnormal tumour incidence" EXACT [] is_a: MP:0002166 ! abnormal tumor susceptibility [Term] id: MP:0002020 name: increased tumor incidence alt_id: MP:0002017 def: "greater than the expected number of neoplasms in a specific population in a given time period, usually of a specific type" [https://orcid.org/0000-0003-3691-0324, MESH:E05.318.308.985.525.375] synonym: "increased neoplasm incidence" EXACT [] synonym: "increased tumour incidence" EXACT [] synonym: "spontaneous tumor" EXACT [] is_a: MP:0002019 ! abnormal tumor incidence [Term] id: MP:0002021 name: increased incidence of induced tumors def: "higher than normal frequency of tumor incidence induced by a carcinogen, mutagen or virus" [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0003-3691-0324] synonym: "increased incidence of induced tumours" EXACT [] is_a: MP:0002020 ! increased tumor incidence is_a: MP:0013151 ! abnormal incidence of induced tumors [Term] id: MP:0002023 name: increased B cell derived lymphoma incidence def: "higher than normal incidence of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes" [MESH:C04.557.386.480.150] synonym: "B cell derived lymphoma" RELATED [] synonym: "B-cell derived lymphoma" RELATED [] is_a: MP:0012431 ! increased lymphoma incidence [Term] id: MP:0002024 name: increased T cell derived lymphoma incidence alt_id: MP:0003832 alt_id: MP:0005234 def: "higher than normal incidence of a group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes" [MESH:C04.557.386.480.750] synonym: "T cell derived lymphoma" RELATED [] synonym: "T-cell derived lymphoma" RELATED [] synonym: "thymic lymphoma" RELATED [] synonym: "thymic tumor" RELATED [] synonym: "thymic tumour" RELATED [] synonym: "thymus tumor" RELATED [] synonym: "thymus tumour" RELATED [] is_a: MP:0010365 ! increased thymus tumor incidence is_a: MP:0012431 ! increased lymphoma incidence [Term] id: MP:0002025 name: obsolete B cell/T cell derived lymphoma def: "OBSOLETE. group of heterogeneous lymphoid tumors representing malignant transformations of both B-lymphocytes and T-lymphocytes" [https://orcid.org/0000-0003-3691-0324] synonym: "B-cell/T-cell derived lymphoma" EXACT [] is_obsolete: true [Term] id: MP:0002026 name: increased leukemia incidence def: "higher than normal incidence of a cancer characterized by progressive proliferation of abnormal leukocytes in hematopoietic tissues, organs and blood" [DOID:1240, ISBN:0-683-40008-8] synonym: "increased leucaemia incidence" EXACT [] synonym: "increased leukaemia incidence" EXACT [] synonym: "leucaemia" RELATED [] synonym: "leukaemia" RELATED [] synonym: "leukemia" RELATED [] is_a: MP:0010273 ! increased classified tumor incidence is_a: MP:0010296 ! increased hemolymphoid system tumor incidence [Term] id: MP:0002027 name: increased lung adenocarcinoma incidence def: "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" [ISBN:0-683-40008-8] synonym: "lung adenocarcinoma" RELATED [] is_a: MP:0008716 ! increased lung non-small cell carcinoma incidence is_a: MP:0009308 ! increased adenocarcinoma incidence [Term] id: MP:0002030 name: increased neurofibrosarcoma incidence alt_id: MP:0002034 def: "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" [ISBN:0-683-40008-8] synonym: "increased fibroblastic neurosarcoma incidence" EXACT [] synonym: "malignant neurolemmoma" RELATED [] synonym: "malignant peripheral nerve sheath tumors" RELATED [] synonym: "malignant peripheral nerve sheath tumours" RELATED [] synonym: "MPNSTs" RELATED [] synonym: "peripheral nerve sheath tumor" RELATED [] synonym: "peripheral nerve sheath tumour" RELATED [] is_a: MP:0010281 ! increased nervous system tumor incidence is_a: MP:0010363 ! increased fibrosarcoma incidence [Term] id: MP:0002031 name: increased adrenal gland tumor incidence def: "greater than the expected number of neoplams in the adrenal gland occurring in a specific population in a given time period" [ISBN:0-683-40008-8] synonym: "increased adrenal gland tumour incidence" EXACT [] is_a: MP:0010288 ! increased gland tumor incidence [Term] id: MP:0002032 name: increased sarcoma incidence def: "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" [DOID:1115, ISBN:0-683-40008-8] synonym: "sarcoma" RELATED [] is_a: MP:0002018 ! increased malignant tumor incidence [Term] id: MP:0002033 name: increased malignant triton tumor incidence def: "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" [ISBN:0-683-40008-8] synonym: "increased malignant triton tumour incidence" EXACT [] synonym: "malignant triton tumors" RELATED [] synonym: "malignant triton tumours" RELATED [] synonym: "MTTs" RELATED [] is_a: MP:0002018 ! increased malignant tumor incidence [Term] id: MP:0002035 name: increased leiomyosarcoma incidence def: "greater than the expected number of a malignant tumor derived from smooth (nonstriated) muscle, occurring in a specific population in a given time period" [ISBN:0-683-40008-8] synonym: "leiomyosarcoma" RELATED [] is_a: MP:0002032 ! increased sarcoma incidence is_a: MP:0010290 ! increased muscle tumor incidence [Term] id: MP:0002036 name: increased rhabdomyosarcoma incidence def: "greater than the expected number of a malignant tumor derived from skeletal (striated) muscle, occurring in a specific population in a given time period" [ISBN:0-683-40008-8] synonym: "rhabdomyosarcoma" RELATED [] is_a: MP:0002032 ! increased sarcoma incidence is_a: MP:0010290 ! increased muscle tumor incidence [Term] id: MP:0002037 name: increased fibrohistocytoma incidence def: "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" [ISBN:0-683-40008-8] synonym: "dermatofibroma" RELATED [] is_a: MP:0003580 ! increased fibroma incidence is_a: MP:0010300 ! increased skin tumor incidence [Term] id: MP:0002038 name: increased carcinoma incidence def: "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" [ISBN:0-683-40008-8] synonym: "carcinoma" RELATED [] is_a: MP:0002018 ! increased malignant tumor incidence [Term] id: MP:0002039 name: increased neuroblastoma incidence def: "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" [ISBN:0-683-40008-8] synonym: "neuroblastoma" RELATED [] is_a: MP:0008021 ! increased blastoma incidence is_a: MP:0010281 ! increased nervous system tumor incidence [Term] id: MP:0002041 name: increased pituitary adenoma incidence def: "greater than the expected number of benign neoplasms of the pituitary, occurring in a specific population in a given time period" [ISBN:0-683-40008-8] is_a: MP:0010320 ! increased pituitary gland tumor incidence is_a: MP:0010383 ! increased adenoma incidence [Term] id: MP:0002042 name: obsolete hemotologic neoplasia def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002043 name: increased colon hamartoma incidence def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "colon hamartoma" RELATED [] synonym: "colonic hamartoma" RELATED [] synonym: "increased colonic hamartoma incidence" EXACT [] is_a: MP:0010306 ! increased hamartoma incidence is_a: MP:0012436 ! increased colon tumor incidence [Term] id: MP:0002044 name: increased colon adenoma incidence def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "increased colonic adenoma incidence" EXACT [] synonym: "increased colonic adenomata incidence" EXACT [] is_a: MP:0002404 ! increased intestinal adenoma incidence is_a: MP:0012436 ! increased colon tumor incidence [Term] id: MP:0002045 name: increased renal cystadenoma incidence def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "increased kidney cystadenoma incidence" EXACT [] synonym: "increased kidney cystoma incidence" EXACT [] synonym: "increased renal cystoma incidence" EXACT [] is_a: MP:0010294 ! increased kidney tumor incidence is_a: MP:0013751 ! increased cystadenoma incidence [Term] id: MP:0002047 name: increased hepatic hemangioma incidence def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "hepatic haemangioma" RELATED [] synonym: "hepatic hemangioma" RELATED [] synonym: "increased hepatic haemangioma incidence" EXACT [] synonym: "liver angioma" RELATED [] is_a: MP:0002947 ! increased hemangioma incidence is_a: MP:0008019 ! increased liver tumor incidence [Term] id: MP:0002048 name: increased lung adenoma incidence def: "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" [ISBN:0-683-40008-8] is_a: MP:0008014 ! increased lung tumor incidence is_a: MP:0010383 ! increased adenoma incidence is_a: MP:0020190 ! abnormal lung adenoma incidence [Term] id: MP:0002049 name: increased extremity angiosarcoma incidence def: "higher than normal incidence of malignant neoplasm of soft tissues; thought to arise from endothelial cells of blood vessels" [ISBN:0-683-40008-8] synonym: "extremity angiosarcoma" RELATED [] is_a: MP:0003667 ! increased hemangiosarcoma incidence [Term] id: MP:0002050 name: increased pheochromocytoma incidence def: "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" [ISBN:0-683-40008-8] synonym: "increased phaeochromocytoma incidence" EXACT [] synonym: "phaeochromocytoma" RELATED [] synonym: "pheochromocytoma" RELATED [] is_a: MP:0002031 ! increased adrenal gland tumor incidence [Term] id: MP:0002051 name: increased skin papilloma incidence def: "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" [ISBN:0-683-40008-8] synonym: "skin papilloma" RELATED [] is_a: MP:0002014 ! increased papilloma incidence is_a: MP:0010300 ! increased skin tumor incidence [Term] id: MP:0002052 name: decreased tumor incidence alt_id: MP:0005514 def: "less than the expected number of neoplasms in a specific population in a given time period" [MESH:E05.318.308.985.525.375, MGI:cwg] synonym: "decreased neoplasm incidence" EXACT [] synonym: "decreased susceptibility to neoplasm development" RELATED [] synonym: "decreased susceptibility to tumor development" RELATED [] synonym: "decreased susceptibility to tumour development" RELATED [] synonym: "decreased tumour incidence" EXACT [] synonym: "increased resistance to neoplasm development" EXACT [] synonym: "increased resistance to tumor development" EXACT [] synonym: "increased resistance to tumour development" EXACT [] synonym: "reduced tumor incidence" EXACT [] synonym: "reduced tumour incidence" EXACT [] is_a: MP:0002019 ! abnormal tumor incidence [Term] id: MP:0002053 name: decreased incidence of induced tumors def: "reduced frequency of tumor incidence induced by a carcinogen, mutagen or virus" [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0003-3691-0324] synonym: "decreased incidence of induced tumours" EXACT [] synonym: "reduced incidence of induced tumors" EXACT [] synonym: "reduced incidence of induced tumours" EXACT [] is_a: MP:0002052 ! decreased tumor incidence is_a: MP:0013151 ! abnormal incidence of induced tumors [Term] id: MP:0002054 name: obsolete disease states def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002055 name: obsolete Diabetes def: "OBSOLETE. either insipidus or mellitus. Having in common the symptoms of polyuria" [ISBN:0-683-40008-8, MGI:cml] comment: This is really a disease term; see OMIM for numerous types of this disease. is_obsolete: true [Term] id: MP:0002056 name: obsolete Insulin dependent diabetes def: "Obsolete. Characterized by polydipsia, polyuria, increased appetite, weight loss, low plasma insulin levels, and episodic ketoacidosis" [ISBN:0-683-40008-8, MGI:cml] comment: This is really a disease term; see OMIM:222100. synonym: "IDDM" EXACT [] synonym: "Juvenile diabetes" EXACT [] synonym: "Type I diabetes" EXACT [] is_obsolete: true [Term] id: MP:0002057 name: obsolete Non-insulin dependent diabetes def: "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" [ISBN:0-683-40008-8, MGI:cml] comment: This is really a disease term; see OMIM:125853. synonym: "NIDDM" EXACT [] synonym: "Type II, adult onset diabetes" EXACT [] is_obsolete: true [Term] id: MP:0002058 name: neonatal lethality def: "death within the neonatal period after birth (Mus: P0)" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "neonatal death" EXACT [] is_a: MP:0002081 ! perinatal lethality [Term] id: MP:0002059 name: abnormal seminal vesicle morphology alt_id: MP:0000656 def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "abnormal gonecyst morphology" EXACT [] synonym: "abnormal seminal gland morphology" EXACT [] synonym: "abnormal seminal vesicles morphology" EXACT [] synonym: "seminal gland dysplasia" EXACT [] synonym: "seminal vesicle dysplasia" EXACT [] is_a: MP:0009205 ! abnormal internal male genitalia morphology is_a: MP:0013330 ! abnormal male accessory sex gland morphology [Term] id: MP:0002060 name: abnormal skin morphology def: "any structural anomaly of the membranous protective covering of the body" [ISBN:0-683-40008-8, PMID:10469309] subset: CvDC_Terms subset: Europhenome_Terms subset: IMPC synonym: "abnormal cutis morphology" EXACT [] synonym: "abnormal skin anatomy" EXACT [] synonym: "skin dysplasia" EXACT [] xref: Fyler:4133 is_a: MP:0010771 ! integument phenotype [Term] id: MP:0002061 name: abnormal aggression-related behavior alt_id: MP:0001352 def: "domineering, assaultive or forceful physical action" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC synonym: "abnormal aggression-related behaviour" EXACT [] synonym: "hostility related behavior" EXACT [] synonym: "hostility related behaviour" EXACT [] synonym: "neurological/behavioral: aggression" EXACT [] synonym: "neurological/behavioural: aggression" EXACT [] xref: MGI:2173566 is_a: MP:0002572 ! abnormal emotion/affect behavior [Term] id: MP:0002062 name: abnormal associative learning def: "anomaly in the ability to change the frequency or form of a behavior as a result of the influence of the environment" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal conditioning behavior" EXACT [] synonym: "abnormal conditioning behaviour" EXACT [] synonym: "neurological/behavioral: conditioning defect" EXACT [] synonym: "neurological/behavioural: conditioning defect" EXACT [] xref: MGI:2173567 is_a: MP:0002063 ! abnormal learning/memory/conditioning [Term] id: MP:0002063 name: abnormal learning/memory/conditioning alt_id: MP:0001449 def: "altered ability to receive, store, process or recall informational stimuli" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal learning/ memory" EXACT [] synonym: "neurological/behavioral: learning/memory anomalies" EXACT [] synonym: "neurological/behavioral: learning/memory impairment" EXACT [] synonym: "neurological/behavioural: learning/memory anomalies" EXACT [] synonym: "neurological/behavioural: learning/memory impairment" EXACT [] xref: MGI:2173568 is_a: MP:0014114 ! abnormal cognition [Term] id: MP:0002064 name: seizures alt_id: MP:0000946 alt_id: MP:0001493 def: "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [https://orcid.org/0000-0003-3691-0324] synonym: "neurological/behavioral: seizures/epilepsy" BROAD [] synonym: "neurological/behavioural: seizures/epilepsy" BROAD [] synonym: "seizures/epilepsy" BROAD [] xref: MGI:2173569 is_a: MP:0003633 ! abnormal nervous system physiology is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0002065 name: abnormal fear/anxiety-related behavior def: "altered response in tests for fear or anxiety related behaviors" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal fear/anxiety behavior" EXACT [] synonym: "abnormal fear/anxiety behaviour" EXACT [] synonym: "abnormal fear/anxiety-related behaviour" EXACT [] synonym: "neurological/behavioral: fear/anxiety" EXACT [] synonym: "neurological/behavioural: fear/anxiety" EXACT [] xref: MGI:2173570 is_a: MP:0002572 ! abnormal emotion/affect behavior [Term] id: MP:0002066 name: abnormal motor capabilities/coordination/movement def: "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [https://orcid.org/0000-0003-3691-0324] synonym: "neurological/behavioral: motor capabilities/coordination/movement anomalies" EXACT [] synonym: "neurological/behavioural: motor capabilities/coordination/movement anomalies" EXACT [] xref: MGI:2173571 is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0002067 name: abnormal sensory capabilities/reflexes/nociception def: "inability or altered ability to respond to a sensory stimulus" [https://orcid.org/0000-0003-3691-0324] synonym: "neurological/behavioral: sensory capabilities/reflexes/nociception abnormalities" EXACT [] synonym: "neurological/behavioural: sensory capabilities/reflexes/nociception abnormalities" EXACT [] xref: MGI:2173572 is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0002068 name: abnormal parental behavior def: "altered behavior of animals that affects the ability of offspring to survive" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal parental behaviour" EXACT [] synonym: "neurological/behavioral: parental behavior anomalies" EXACT [] synonym: "neurological/behavioural: parental behaviour anomalies" EXACT [] xref: MGI:2173573 is_a: MP:0002557 ! abnormal social/conspecific interaction behavior [Term] id: MP:0002069 name: abnormal consumption behavior def: "altered ability or inability to eat or drink, or unusual choice or avoidance of foods or drink" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal consumption behaviour" EXACT [] synonym: "abnormal eating/drinking behavior" EXACT [] synonym: "abnormal eating/drinking behaviour" EXACT [] synonym: "abnormal feeding/drinking behavior" EXACT [] synonym: "abnormal feeding/drinking behaviour" EXACT [] synonym: "neurological/behavioral: feeding/drinking anomalies" EXACT [] synonym: "neurological/behavioural: feeding/drinking anomalies" EXACT [] xref: MGI:2173574 is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0002070 name: obsolete abnormal sleep pattern/circadian rhythm def: "OBSOLETE. deviation from the normal 24 hour biological activity cycle including the wake/sleep cycle" [https://orcid.org/0000-0003-3691-0324] synonym: "neurological/behavioral: sleep pattern/circadian rhythm anomalies" EXACT [] xref: MGI:2173575 is_obsolete: true consider: MP:0001501 [Term] id: MP:0002071 name: obsolete other abnormal behavior def: "OBSOLETE. abnormal behaviors not attributable to other categories" [https://orcid.org/0000-0003-3691-0324] synonym: "neurological/behavioral: other anomalies" EXACT [] xref: MGI:2173576 is_obsolete: true [Term] id: MP:0002072 name: obsolete neurological/behavioral: no defect detected def: "OBSOLETE. no anomaly observed in neurological or behavioral tests" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173577 is_obsolete: true [Term] id: MP:0002073 name: abnormal hair growth alt_id: MP:0000409 def: "any anomaly in the amount of hair or abnormal onset of hair growth cycle or development, or abnormal hair pattern" [https://orcid.org/0000-0003-3691-0324, MGI:llw2] subset: IMPC subset: Sanger_Terms synonym: "coat: hair growth defects" EXACT [] synonym: "hair growth abnormalities" EXACT [] xref: MGI:2173539 is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0002074 name: abnormal hair texture alt_id: MP:0002077 def: "irregular or unusual appearance of the structure of the hair" [https://orcid.org/0000-0003-3691-0324] subset: IMPC subset: Sanger_Terms synonym: "coat: hair texture defects" EXACT [] synonym: "hair texture abnormalities" EXACT [] xref: MGI:2173540 is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0002075 name: abnormal coat/hair pigmentation alt_id: MP:0000368 def: "irregular or unusual pigmentation of the hair" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal coat color" EXACT [] synonym: "abnormal coat colour" EXACT [] synonym: "abnormal hair pigmentation" EXACT [] synonym: "coat: color anomalies" EXACT [] synonym: "coat: colour anomalies" EXACT [] xref: MGI:2173541 is_a: MP:0001186 ! pigmentation phenotype is_a: MP:0001510 ! abnormal coat appearance [Term] id: MP:0002076 name: obsolete abnormal hair follicle structure/orientation def: "OBSOLETE. any structural anomaly or misalignment of the epidermis from which the hair shaft develops" [https://orcid.org/0000-0003-3691-0324] synonym: "coat: hair follicle structure/orientation anomalies" EXACT [] xref: MGI:2173542 is_obsolete: true consider: MP:0000377 consider: MP:0000383 [Term] id: MP:0002078 name: abnormal glucose homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of glucose in the fluids and tissues" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal glucose metabolism" NARROW [] synonym: "metabolism: abnormal glucose homeostasis" EXACT [] xref: MGI:2173579 is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0002079 name: increased circulating insulin level def: "greater than normal levels of insulin in blood" [ISBN:0-683-40008-8] subset: IMPC subset: Sanger_Terms synonym: "hyperinsulinaemia" EXACT [] synonym: "hyperinsulinemia" EXACT [] synonym: "hyperinsulinism" EXACT [] is_a: MP:0001560 ! abnormal circulating insulin level is_a: MP:0014456 ! increased circulating hormone level [Term] id: MP:0002080 name: prenatal lethality alt_id: MP:0001645 alt_id: MP:0001707 def: "death anytime between fertilization and birth (Mus: approximately E18.5)" [https://orcid.org/0000-0003-3691-0324] comment: Note that the name of this term has previously been embryonic lethality. In many species, the terms prenatal lethality and embryonic lethality are used interchangeably. However, this is not technically correct and we have modified this ontology to define the prenatal period to include the embryonic stages distinctly from the fetal stages. The names embryonic lethality and embryonic death have been retained as a narrow synonyms to aid in searching for those species that may use these terms as synonyms. subset: IMPC subset: Sanger_Terms synonym: "antenatal lethality" EXACT [] synonym: "embryonic death" NARROW [] synonym: "embryonic lethality" NARROW [] synonym: "survival: embryonic lethality" NARROW [] synonym: "survival: prenatal lethality" EXACT [] xref: MGI:2173525 is_a: MP:0010770 ! preweaning lethality [Term] id: MP:0002081 name: perinatal lethality alt_id: MP:0001644 def: "death anytime within the perinatal period (Mus: E18.5 through postnatal day 1)" [https://orcid.org/0000-0003-3691-0324] synonym: "perinatal death" EXACT [] synonym: "stillborn" RELATED [] synonym: "survival: perinatal lethality" EXACT [] xref: MGI:2173526 is_a: MP:0010832 ! lethality during fetal growth through weaning [Term] id: MP:0002082 name: postnatal lethality alt_id: MP:0001643 def: "premature death anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [https://orcid.org/0000-0003-3691-0324] synonym: "juvenile lethality" EXACT [] synonym: "postnatal death" EXACT [] synonym: "survival: postnatal lethality" EXACT [] xref: MGI:2173527 is_a: MP:0010832 ! lethality during fetal growth through weaning [Term] id: MP:0002083 name: premature death alt_id: MP:0001642 alt_id: MP:0001646 alt_id: MP:0001662 def: "death after weaning age, but before the normal life span (Mus: after 3 weeks of age)" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal survival/ lethality" EXACT [] synonym: "reduced life span" EXACT [] synonym: "reduced lifespan" EXACT [] synonym: "short life span" EXACT [] synonym: "shorter life span" EXACT [] synonym: "survival: premature death" EXACT [] xref: MGI:2173528 is_a: MP:0010769 ! abnormal survival [Term] id: MP:0002084 name: abnormal developmental patterning alt_id: MP:0001702 def: "abnormal systematic arrangement of the developing body along an axis" [https://orcid.org/0000-0003-3691-0324] synonym: "embryogenesis: developmental patterning abnormalities" EXACT [] xref: MGI:2173529 is_a: MP:0001672 ! abnormal embryo development [Term] id: MP:0002085 name: abnormal embryonic tissue morphology alt_id: MP:0001673 def: "any structural anomaly of the embryonic tissue part of the whole embryo" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal embryogenesis" RELATED [] synonym: "embryogenesis: embryonic tissue dysmorphology" EXACT [] synonym: "embryonic tissue dysplasia" EXACT [] xref: MGI:2173530 is_a: MP:0014134 ! abnormal embryo morphology [Term] id: MP:0002086 name: abnormal extraembryonic tissue morphology alt_id: MP:0001708 alt_id: MP:0001709 def: "any structural anomaly of the membranes involved with embryonic protection and nutrition" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: IMPC_Prenatal synonym: "abnormal extraembryonic tissues morphology" EXACT [] synonym: "embryogenesis: extraembryonic tissue dysmorphology" EXACT [] synonym: "extraembryonic tissue dysplasia" EXACT [] xref: MGI:2173531 is_a: MP:0005380 ! embryo phenotype [Term] id: MP:0002087 name: obsolete embryogenesis: no defect detected def: "OBSOLETE. no anomaly observed in examination of embryonic development" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173532 is_obsolete: true [Term] id: MP:0002088 name: abnormal embryonic growth/weight/body size def: "limited or accelerated growth or development apparent during the embryonic period (sensu Mus: up to E14, or the completion of organogenesis)" [https://orcid.org/0000-0003-3691-0324] synonym: "growth/weight/body size abnormality: embryonic" EXACT [] xref: MGI:2173533 is_a: MP:0004196 ! abnormal prenatal growth/weight/body size [Term] id: MP:0002089 name: abnormal postnatal growth/weight/body size alt_id: MP:0001252 def: "increased or decreased average body size, weight or growth characteristic abnormalities manifesting after birth" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC synonym: "abnormal trunk/ body shape" EXACT [] synonym: "growth/weight/body size abnormality: postnatal" EXACT [] synonym: "trunk/ body shape abnormalities" EXACT [] xref: GO:0040007 xref: GO:0040014 xref: MGI:2173534 is_a: MP:0005378 ! growth/size/body region phenotype [Term] id: MP:0002090 name: abnormal vision alt_id: MP:0001991 alt_id: MP:0002000 def: "any anomaly in the ability to see" [https://orcid.org/0000-0002-6490-7723] synonym: "abnormal visual ability" EXACT [] synonym: "eye: visual abnormalities" EXACT [] synonym: "visual abnormalities" EXACT [] is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0002091 name: obsolete eye: no defect detected def: "OBSOLETE. no anomaly observed in examination of eye tissue" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173538 is_obsolete: true [Term] id: MP:0002092 name: abnormal eye morphology alt_id: MP:0001285 alt_id: MP:0001294 alt_id: MP:0001295 alt_id: MP:0004104 def: "any structural anomaly of the spheroid organ and optic nerve that serves to detect light" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: CvDC_Terms subset: Europhenome_Terms subset: IMPC_Prenatal synonym: "abnormal eyes morphology" EXACT [] synonym: "abnormal ocular orb morphology" EXACT [] synonym: "eye abnormalities" BROAD [] synonym: "eye dysplasia" EXACT [] synonym: "eye malformation" EXACT [] synonym: "eye tissue abnormalities" BROAD [] synonym: "eye: dysmorphology" EXACT [] synonym: "ocular dysplasia" EXACT [] synonym: "ophthalmic malformation" EXACT [] synonym: "visual system abnormalities" BROAD [] synonym: "visual system defects" BROAD [] xref: Fyler:4863 xref: GO:0001654 xref: MGI:2173536 is_a: MP:0005391 ! vision/eye phenotype [Term] id: MP:0002093 name: obsolete abnormal cornea/lens morphology def: "OBSOLETE. any dysmorphology or complete or partial opacity of the lens or cornea" [https://orcid.org/0000-0003-3691-0324] synonym: "eye: corneal/lens defect" EXACT [] xref: MGI:2173537 is_obsolete: true consider: MP:0001303 consider: MP:0001312 [Term] id: MP:0002094 name: obsolete coat: no defect detected def: "OBSOLETE. no anomaly observed in examination of coat" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173543 is_obsolete: true [Term] id: MP:0002095 name: abnormal skin pigmentation alt_id: MP:0001187 def: "anomaly in the coloration of the skin due to changes in the amount, shape, or distribution of cells producing pigment" [https://orcid.org/0000-0003-3691-0324, MGI:llw2] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal cutaneous pigmentation" EXACT [] synonym: "skin: pigmentation anomalies" EXACT [] xref: MGI:2173544 is_a: MP:0001186 ! pigmentation phenotype is_a: MP:0011239 ! abnormal skin coloration [Term] id: MP:0002096 name: obsolete abnormal skin condition/ morphology alt_id: MP:0001185 def: "OBSOLETE. any structural anomaly or atypical condition of the skin" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal skin" EXACT [] synonym: "skin abnormalities" EXACT [] synonym: "skin: texture/condition anomalies" EXACT [] xref: MGI:2173545 is_obsolete: true consider: MP:0001191 consider: MP:0002060 [Term] id: MP:0002097 name: obsolete skin: no defect detected def: "OBSOLETE. no anomaly observed in examination of skin" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173546 is_obsolete: true [Term] id: MP:0002098 name: abnormal vibrissa morphology alt_id: MP:0001271 def: "any structural anomaly of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors" [https://orcid.org/0000-0003-3691-0324, MESH:A13.950] subset: Europhenome_Terms subset: IMPC_Prenatal subset: Sanger_Terms synonym: "abnormal contour hair morphology" EXACT [] synonym: "abnormal sinus hair morphology" EXACT [] synonym: "abnormal touch hair morphology" EXACT [] synonym: "abnormal vibrissae morphology" EXACT [] synonym: "abnormal whiskers morphology" RELATED [] synonym: "vibrissae abnormalities" BROAD [] synonym: "vibrissae defects" BROAD [] synonym: "vibrissae dysplasia" EXACT [] synonym: "vibrissae: dysmorphology" EXACT [] xref: MGI:2173547 is_a: MP:0010678 ! abnormal skin adnexa morphology [Term] id: MP:0002099 name: obsolete vibrissae: no defect detected def: "OBSOLETE. no anomaly observed in examination of whiskers" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173548 is_obsolete: true [Term] id: MP:0002100 name: abnormal tooth morphology alt_id: MP:0000115 alt_id: MP:0000123 def: "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" [https://orcid.org/0000-0003-3691-0324, UBERON:0001091] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal teeth morphology" EXACT [] synonym: "abnormal tooth structure" EXACT [] synonym: "teeth abnormalities" BROAD [] synonym: "teeth: tooth dysmorphology" EXACT [] synonym: "tooth dysplasia" EXACT [] xref: MGI:2173553 is_a: MP:0000452 ! abnormal mouth morphology is_a: MP:0030254 ! abnormal dental arch morphology [Term] id: MP:0002101 name: obsolete teeth: no defect detected def: "OBSOLETE. no anomaly observed in examination of teeth" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173554 is_obsolete: true [Term] id: MP:0002102 name: abnormal ear morphology alt_id: MP:0000014 alt_id: MP:0000016 def: "any structural anomaly of any of the structures involved in the ear or vestibular system" [https://orcid.org/0000-0003-3691-0324] subset: CvDC_Terms subset: Europhenome_Terms subset: IMPC synonym: "abnormal auditory/ vestibular system morphology" BROAD [] synonym: "abnormal ear development/ ear malformation" NARROW [] synonym: "auditory/ vestibular system abnormalities" EXACT [] synonym: "auditory/ vestibular system defects" EXACT [] synonym: "ear dysplasia" EXACT [] synonym: "ears: dysmorphology" EXACT [] xref: Fyler:4867 xref: GO:0042471 xref: MGI:2173556 is_a: MP:0005377 ! hearing/vestibular/ear phenotype [Term] id: MP:0002103 name: obsolete ears: no defect detected def: "OBSOLETE. no anomaly observed in examination of auditory tissue or in hearing assessment" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173557 is_obsolete: true [Term] id: MP:0002106 name: abnormal muscle physiology alt_id: MP:0002105 def: "any functional anomaly of the muscle, not due to an anatomical defect" [https://orcid.org/0000-0003-3691-0324] synonym: "muscle physiology abnormalities" EXACT [] synonym: "musculature: physiological defects" EXACT [] xref: MGI:2173559 is_a: MP:0005369 ! muscle phenotype [Term] id: MP:0002107 name: obsolete musculature: no defect detected def: "OBSOLETE. no anomaly observed in examination of muscle tissue or in physiological assessment" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173560 is_obsolete: true [Term] id: MP:0002108 name: abnormal muscle morphology alt_id: MP:0000728 alt_id: MP:0000735 alt_id: MP:0000758 def: "any structural anomaly of the contractile tissue that produces movement in animals" [MESH:A02.633] synonym: "abnormal musculature morphology" EXACT [] synonym: "muscle abnormalities" BROAD [] synonym: "muscle dysplasia" EXACT [] synonym: "musculature abnormalities" BROAD [] synonym: "musculature: muscle dysmorphology" EXACT [] xref: MGI:2173558 is_a: MP:0005369 ! muscle phenotype [Term] id: MP:0002109 name: abnormal limb morphology alt_id: MP:0000546 def: "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" [https://orcid.org/0000-0003-3691-0324] subset: IMPC_Prenatal synonym: "extremities: limb dysmorphology" EXACT [] synonym: "limb abnormalities" BROAD [] synonym: "limb dysplasia" EXACT [] xref: MGI:2173549 is_a: MP:0005371 ! limbs/digits/tail phenotype [Term] id: MP:0002110 name: abnormal digit morphology alt_id: MP:0000560 def: "any structural anomaly of the fingers or toes" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "abnormal finger morphology" NARROW [] synonym: "abnormal toe morphology" NARROW [] synonym: "digit abnormalities" BROAD [] synonym: "digit dysplasia" EXACT [] synonym: "extremities: digit dysmorphology" EXACT [] xref: MGI:2173550 is_a: MP:0000572 ! abnormal autopod morphology [Term] id: MP:0002111 name: abnormal tail morphology alt_id: MP:0000584 alt_id: MP:0005173 def: "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" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC_Prenatal subset: Sanger_Terms synonym: "abnormal tail structure" EXACT [] synonym: "extremities: tail dysmorphology" EXACT [] synonym: "tail abnormalities" BROAD [] synonym: "tail dysplasia" EXACT [] synonym: "tail structure abnormalities" EXACT [] xref: MGI:2173551 is_a: MP:0005371 ! limbs/digits/tail phenotype [Term] id: MP:0002112 name: obsolete extremities: no defect detected def: "OBSOLETE. no anomaly observed in examination of extremities" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173552 is_obsolete: true [Term] id: MP:0002113 name: abnormal skeleton development alt_id: MP:0000056 alt_id: MP:0001534 alt_id: MP:0001537 def: "any anomaly in the formation of bone tissue" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal bone development" EXACT [] synonym: "abnormal bone formation/ structure" EXACT [] synonym: "abnormal skeletogenesis" EXACT [] synonym: "skeletal: osteogenesis/developmental anomalies" EXACT [] xref: MGI:2173561 is_a: MP:0005508 ! abnormal skeleton morphology [Term] id: MP:0002114 name: abnormal axial skeleton morphology def: "any structural anomaly of the articulated bones of the cranium and vertebral column" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "axial skeletal dysplasia" EXACT [] synonym: "skeletal: axial defects" BROAD [] xref: MGI:2173562 is_a: MP:0005508 ! abnormal skeleton morphology [Term] id: MP:0002115 name: abnormal limb bone morphology def: "any structural anomaly of the limb or autopod bones" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal skeleton extremities morphology" EXACT [] synonym: "dysplastic skeletal extremities" EXACT [] synonym: "skeletal: extremities defects" EXACT [] xref: MGI:2173563 is_a: MP:0002109 ! abnormal limb morphology is_a: MP:0009250 ! abnormal appendicular skeleton morphology [Term] id: MP:0002116 name: abnormal craniofacial bone morphology alt_id: MP:0000072 def: "any structural anomaly of the cranial or facial bones" [https://orcid.org/0000-0003-3691-0324] synonym: "cranial/facial bone dysplasia" EXACT [] synonym: "craniofacial bone defects" BROAD [] synonym: "craniofacial bone dysplasia" EXACT [] synonym: "skeletal: craniofacial defects" EXACT [] xref: MGI:2173564 is_a: MP:0000428 ! abnormal craniofacial morphology is_a: MP:0002114 ! abnormal axial skeleton morphology [Term] id: MP:0002117 name: obsolete skeletal: no defect detected def: "OBSOLETE. no anomaly observed in examination of bones and/or skeleton" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173565 is_obsolete: true [Term] id: MP:0002118 name: abnormal lipid homeostasis def: "anomaly in the processes involved in the maintenance of an internal equilibrium of lipids in the fluids and tissues" [https://orcid.org/0000-0003-3691-0324] synonym: "metabolism: abnormal lipid homeostasis" EXACT [] xref: MGI:2173578 is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0002119 name: dipsosis def: "excessive desire to drink, or to drink unusual fluids" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "dipsesis" EXACT [] is_a: MP:0001423 ! abnormal liquid preference [Term] id: MP:0002121 name: obsolete other metabolic defect alt_id: MP:0002120 def: "OBSOLETE. altered chemical and physical processes of the body or of a tissue, not due to lipid or glucose chemistry" [https://orcid.org/0000-0003-3691-0324] synonym: "metabolism: other metabolic defect" EXACT [] synonym: "metabolism: other metabolic defect measured by clinical chemistry" EXACT [] xref: MGI:2173580 xref: MGI:2173581 is_obsolete: true consider: MP:0005266 [Term] id: MP:0002122 name: obsolete metabolism: no defect detected def: "OBSOLETE. no anomaly observed in examination of metabolic function" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173582 is_obsolete: true [Term] id: MP:0002123 name: abnormal definitive hematopoiesis alt_id: MP:0000236 alt_id: MP:0000241 alt_id: MP:0001600 alt_id: MP:0001604 alt_id: MP:0001605 alt_id: MP:0002402 def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal definitive haematopoiesis" EXACT [] synonym: "abnormal definitive haematosis" EXACT [] synonym: "abnormal definitive hematosis" EXACT [] synonym: "abnormal sanguification" EXACT [] synonym: "blood development abnormalities" EXACT [] xref: MGI:2173583 is_a: MP:0013693 ! abnormal hemopoiesis [Term] id: MP:0002126 name: obsolete hematology: no defect detected def: "OBSOLETE. no anomaly observed in examination of hematological development or function" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173586 is_obsolete: true [Term] id: MP:0002127 name: abnormal cardiovascular system morphology alt_id: MP:0000177 def: "any structural anomaly of the heart or vascular tissue" [https://orcid.org/0000-0003-3691-0324] synonym: "cardiovascular dysplasia" EXACT [] synonym: "cardiovascular system abnormalities" BROAD [] synonym: "cardiovascular system defects" BROAD [] synonym: "cardiovascular system dysplasia" EXACT [] synonym: "heart/cardiovascular system: dysmorphology" EXACT [] xref: MGI:2173587 is_a: MP:0005385 ! cardiovascular system phenotype [Term] id: MP:0002128 name: abnormal blood circulation alt_id: MP:0000308 alt_id: MP:0001632 def: "failure or atypical movement in the flow of blood from the heart to the vasculature and back to the heart" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal circulation" BROAD [] synonym: "heart/cardiovascular system: blood circulatory defects" EXACT [] xref: MGI:2173588 is_a: MP:0001544 ! abnormal cardiovascular system physiology [Term] id: MP:0002131 name: obsolete heart/cardiovascular system: no defect detected def: "OBSOLETE. no anomaly observed in examination of heart or vascular tissue or in cardiovascular function" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173591 is_obsolete: true [Term] id: MP:0002132 name: abnormal respiratory system morphology alt_id: MP:0001174 def: "any structural anomaly of pulmonary tissues" [https://orcid.org/0000-0003-3691-0324] subset: CvDC_Terms synonym: "pulmonary malformation" EXACT [] synonym: "respiratory system dysplasia" EXACT [] synonym: "respiratory system: dysmorphology" EXACT [] xref: Fyler:4235 xref: MGI:2173592 is_a: MP:0005388 ! respiratory system phenotype [Term] id: MP:0002133 name: abnormal respiratory system physiology def: "any functional anomaly of the pulmonary system; inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment" [https://orcid.org/0000-0003-3691-0324] synonym: "respiratory system dysfunction" EXACT [] synonym: "respiratory system physiology abnormalities" EXACT [] synonym: "respiratory system: respiratory distress/failure/functional anomalies" EXACT [] xref: MGI:2173593 is_a: MP:0005388 ! respiratory system phenotype [Term] id: MP:0002134 name: obsolete respiratory system: no defect detected def: "OBSOLETE. no anomaly observed in examination of lung and other respiratory tissues" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173594 is_obsolete: true [Term] id: MP:0002135 name: abnormal kidney morphology alt_id: MP:0000518 alt_id: MP:0003650 def: "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" [https://orcid.org/0000-0003-3691-0324] subset: CvDC_Terms synonym: "abnormal renal morphology" EXACT [] synonym: "kidney dysplasia" EXACT [] synonym: "kidney/renal system: dysmorphology" EXACT [] synonym: "renal dysplasia" EXACT [] synonym: "renal malformation" EXACT [] xref: Fyler:4512 xref: MGI:2173595 is_a: MP:0000516 ! abnormal renal/urinary system morphology [Term] id: MP:0002136 name: abnormal kidney physiology def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "abnormal kidney function" EXACT [] synonym: "abnormal renal physiology" EXACT [] synonym: "decreased renal function" NARROW [] synonym: "impaired renal function" NARROW [] synonym: "kidney malfunction" EXACT [] synonym: "kidney/renal system: functional anomalies" EXACT [] synonym: "loss of renal function" NARROW [] synonym: "reduced renal function" NARROW [] synonym: "renal dysfunction" EXACT [] synonym: "renal functional abnormality" EXACT [] xref: MGI:2173596 is_a: MP:0005502 ! abnormal renal/urinary system physiology [Term] id: MP:0002137 name: obsolete kidney/renal system: no defect detected def: "OBSOLETE. no anomaly observed in examination of kidney and other renal tissues" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173597 is_obsolete: true [Term] id: MP:0002138 name: abnormal hepatobiliary system morphology alt_id: MP:0002172 def: "any structural anomaly of any of the tissues of the liver or biliary system" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal liver/biliary system morphology" EXACT [] synonym: "hepatic dysplasia" NARROW [] synonym: "hepatic system abnormalities" BROAD [] synonym: "hepatic system defects" BROAD [] synonym: "liver/biliary system dysplasia" EXACT [] synonym: "liver/hepatic system: dysmorphology" EXACT [] xref: MGI:2173598 is_a: MP:0005370 ! liver/biliary system phenotype [Term] id: MP:0002139 name: abnormal hepatobiliary system physiology alt_id: MP:0002173 def: "any functional anomaly of the tissues of the liver or biliary system" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal hepatic system physiology" NARROW [] synonym: "abnormal liver/biliary system physiology" EXACT [] synonym: "hepatic system physiology abnormalities" NARROW [] synonym: "liver/hepatic system: functional anomalies" EXACT [] xref: MGI:2173599 is_a: MP:0005370 ! liver/biliary system phenotype [Term] id: MP:0002140 name: obsolete liver/hepatic system: no defect detected def: "OBSOLETE. no anomaly observed in examination of liver or other hepatic tissues" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173600 is_obsolete: true [Term] id: MP:0002143 name: obsolete digestive system: no defect detected def: "OBSOLETE. no anomaly obsesrved in the function of or in any region of the digestive system" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173603 is_obsolete: true [Term] id: MP:0002144 name: abnormal B cell differentiation alt_id: MP:0001801 alt_id: MP:0001803 alt_id: MP:0002438 def: "atypical production of or inability to produce mature B cells, and/or accumulation of B cell precursors" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal B cell development" EXACT [] synonym: "abnormal B cell maturation" EXACT [] synonym: "abnormal B lymphocyte development" EXACT [] synonym: "abnormal B lymphocyte maturation" EXACT [] synonym: "abnormal B-cell development" EXACT [] synonym: "abnormal B-cell maturation" EXACT [] synonym: "abnormal lymphoid development/ B lymphocyte defects" BROAD [] synonym: "B cell abnormalities" BROAD [] synonym: "B lymphocyte abnormalities" BROAD [] synonym: "B-cell abnormalities" BROAD [] synonym: "immune system: lymphoid development/ B lymphocyte defects" BROAD [] xref: MGI:2173604 is_a: MP:0002401 ! abnormal lymphopoiesis is_a: MP:0004939 ! abnormal B cell morphology [Term] id: MP:0002145 name: abnormal T cell differentiation alt_id: MP:0001821 alt_id: MP:0001822 alt_id: MP:0002431 alt_id: MP:0002489 def: "atypical production of or inability to produce mature T cells, and/or accumulation of T cell precursors" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal lymphoid development/ T lymphocyte defects" BROAD [] synonym: "abnormal T cell development" EXACT [] synonym: "abnormal T cell maturation" EXACT [] synonym: "abnormal T cell morphology/development" EXACT [] synonym: "abnormal T lymphocyte development" EXACT [] synonym: "abnormal T-cell development" EXACT [] synonym: "abnormal T-cell maturation" EXACT [] synonym: "abnormal thymocyte development" NARROW [] synonym: "immune system: lymphoid development/ T lymphocyte defects" BROAD [] xref: MGI:2173605 is_a: MP:0002401 ! abnormal lymphopoiesis is_a: MP:0008037 ! abnormal T cell morphology [Term] id: MP:0002146 name: obsolete immune system: other dysmorphology def: "OBSOLETE. abnormal development of lymphocytes or lymphatic tissue (other than B or T lymphocytes) resulting in morphological abnormality" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173606 is_obsolete: true [Term] id: MP:0002147 name: obsolete immune system: immunodeficiency def: "OBSOLETE. defective immune response; can be primary due to defect in immune system or secondary due to disease" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173607 is_obsolete: true [Term] id: MP:0002148 name: abnormal hypersensitivity reaction def: "immune response that results in tissue injury" [https://orcid.org/0000-0003-3691-0324] synonym: "immune system: hypersensitivity" EXACT [] synonym: "immunologically mediated tissue injury" EXACT [] xref: MGI:2173608 is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0002149 name: obsolete immune system: other functional anomaly def: "OBSOLETE. altered immune response not due to anatomical defect, immunodeficiency or hypersensitivity" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173609 is_obsolete: true [Term] id: MP:0002150 name: obsolete immune system: no defect detected def: "OBSOLETE. no anomaly observed in examination of immune system tissues or function" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173610 is_obsolete: true [Term] id: MP:0002151 name: abnormal neural tube morphology alt_id: MP:0000922 def: "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)" [https://orcid.org/0000-0002-6490-7723] subset: CvDC_Terms subset: IMPC_Prenatal synonym: "abnormal neural tube morphology/development" BROAD [] synonym: "central nervous system: neural tube defects" BROAD [] synonym: "neural tube defects" BROAD [] synonym: "neural tube dysplasia" NARROW [] xref: Fyler:4339 xref: MGI:2173611 is_a: MP:0002085 ! abnormal embryonic tissue morphology is_a: MP:0003861 ! abnormal nervous system development [Term] id: MP:0002152 name: abnormal brain morphology alt_id: MP:0000770 alt_id: MP:0000775 def: "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.)" [http://cancerweb.ncl.ac.uk, https://orcid.org/0000-0003-3691-0324] synonym: "abnormal brain structure" EXACT [] synonym: "brain abnormalities" BROAD [] synonym: "brain dysplasia" EXACT [] synonym: "brain structure abnormalities" EXACT [] synonym: "central nervous system: brain dysmorphology" EXACT [] xref: MGI:2173612 is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0002156 name: obsolete central nervous system: no defect detected def: "OBSOLETE. no anomaly observed in examination of central nervous system tissues or function" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173616 is_obsolete: true [Term] id: MP:0002159 name: obsolete peripheral nervous system: no defect detected def: "OBSOLETE. no anomaly observed in examination of peripheral nervous system tissues or function" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173619 is_obsolete: true [Term] id: MP:0002160 name: abnormal reproductive system morphology alt_id: MP:0001114 alt_id: MP:0001115 def: "structural or developmental anomaly of any of the tissues involved in the reproductive system" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal reproductive anatomy" EXACT [] synonym: "abnormal reproductive system" BROAD [] synonym: "reproductive system abnormalities" EXACT [] synonym: "reproductive system defects" EXACT [] synonym: "reproductive system dysplasia" EXACT [] synonym: "reproductive system: dysmorphology" EXACT [] xref: MGI:2173620 is_a: MP:0005389 ! reproductive system phenotype [Term] id: MP:0002161 name: abnormal fertility/fecundity alt_id: MP:0001920 def: "anomaly in the reproductive capability of an organism or population to produce live offspring" [https://orcid.org/0000-0003-3691-0324] subset: IMPC subset: Sanger_Terms synonym: "abnormal fecundity" EXACT [] synonym: "reproductive system: fertility/fecundity anomalies" EXACT [] xref: MGI:2173621 is_a: MP:0001919 ! abnormal reproductive system physiology [Term] id: MP:0002162 name: obsolete reproductive system: no defect detected def: "OBSOLETE. no anomaly observed in examination of reproductive system tissues or function" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173622 is_obsolete: true [Term] id: MP:0002163 name: abnormal gland morphology alt_id: MP:0000594 def: "any structural anomaly of an organ that functions as a secretory or excretory organ" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal glands morphology" EXACT [] synonym: "gland abnormalities" BROAD [] synonym: "glands: dysmorphology" EXACT [] synonym: "glandular dysplasia" EXACT [] xref: MGI:2173623 is_a: MP:0005379 ! endocrine/exocrine gland phenotype [Term] id: MP:0002164 name: abnormal gland physiology alt_id: MP:0001733 alt_id: MP:0001738 alt_id: MP:0002692 def: "any functional anomaly of an organ that functions as a secretory or excretory organ" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal endocrine gland function" NARROW [] synonym: "abnormal endocrine system physiology" NARROW [] synonym: "abnormal gland function" EXACT [] synonym: "endocrine system physiology abnormalities" NARROW [] synonym: "gland function abnormalities" EXACT [] synonym: "glands: functional anomalies" EXACT [] xref: MGI:2173624 is_a: MP:0005379 ! endocrine/exocrine gland phenotype [Term] id: MP:0002165 name: obsolete glands: no defect detected def: "OBSOLETE. no anomaly observed in examination of endocrine system tissues or function" [https://orcid.org/0000-0003-3691-0324] xref: MGI:2173625 is_obsolete: true [Term] id: MP:0002166 name: abnormal tumor susceptibility def: "greater than or less than the average number of tumors, usually a specific type, arising in a given organism when compared to controls" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal tumour susceptibility" EXACT [] synonym: "altered neoplastic susceptibility" BROAD [] synonym: "altered tumor resistance" EXACT [] synonym: "altered tumor susceptibility" EXACT [] synonym: "altered tumour resistance" EXACT [] synonym: "altered tumour susceptibility" EXACT [] synonym: "tumorigenesis: altered tumor susceptibility/resistance" EXACT [] synonym: "tumourigenesis: altered tumour susceptibility/resistance" EXACT [] xref: MGI:2173626 is_a: MP:0002006 ! neoplasm [Term] id: MP:0002167 name: obsolete unaffected tumor susceptibility/resistance def: "OBSOLETE. average number of tumors in an organism compared to controls, usually referring to a specific tumor type" [https://orcid.org/0000-0003-3691-0324] synonym: "tumorigenesis: no altered tumor susceptibility/resistance" EXACT [] xref: MGI:2173627 is_obsolete: true [Term] id: MP:0002168 name: obsolete other aberrant phenotype def: "anomaly or dysmorphology not attributable to any other category" [https://orcid.org/0000-0003-3691-0324] comment: Term was obsoleted becasue it is invalid xref: MGI:2173628 is_obsolete: true [Term] id: MP:0002169 name: no abnormal phenotype detected alt_id: MP:0005396 def: "normal viability, fertility, appearance and behavior; reported phenotype is indistinguishable from controls" [https://orcid.org/0000-0002-6490-7723, https://orcid.org/0000-0003-3691-0324] synonym: "fertile" RELATED [] synonym: "no phenotype: no defect detected" EXACT [] synonym: "normal" BROAD [] synonym: "viability" RELATED [] synonym: "viable" RELATED [] synonym: "wild type" EXACT [] synonym: "wild-type" EXACT [] xref: MGI:2173629 is_a: MP:0002873 ! normal phenotype [Term] id: MP:0002174 name: abnormal gastrulation movements def: "failure of embryonic cells to migrate, or migrate to the appropriate target during the development and invagination of the primary germ layers" [https://orcid.org/0000-0003-3691-0324, J:52418] xref: GO:0007669 is_a: MP:0001695 ! abnormal gastrulation [Term] id: MP:0002175 name: decreased brain weight def: "lower than average weight of the brain" [https://orcid.org/0000-0003-3691-0324] synonym: "low brain weight" EXACT [] synonym: "reduced brain weight" EXACT [] is_a: MP:0000774 ! decreased brain size is_a: MP:0012775 ! abnormal brain weight [Term] id: MP:0002176 name: increased brain weight def: "greater than average weight of the brain" [https://orcid.org/0000-0003-3691-0324] synonym: "high brain weight" EXACT [] is_a: MP:0005238 ! increased brain size is_a: MP:0012775 ! abnormal brain weight [Term] id: MP:0002177 name: abnormal outer ear morphology def: "any structural anomaly of any components of the auricles or external acoustic meatus" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: IMPC_Prenatal subset: Sanger_Terms synonym: "abnormal pinna morphology" EXACT [] synonym: "dysplastic pinna" EXACT [] synonym: "outer ear dysplasia" EXACT [] is_a: MP:0000428 ! abnormal craniofacial morphology is_a: MP:0000432 ! abnormal head morphology is_a: MP:0002102 ! abnormal ear morphology [Term] id: MP:0002180 name: obsolete alt_id: MP:0002178 alt_id: MP:0002179 def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002181 name: obsolete abnormal brain cell morphology def: "OBSOLETE. any structural anomaly of any or all brain cell types" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal brain cells" EXACT [] synonym: "brain cell abnormalities" EXACT [] is_obsolete: true consider: MP:0004101 [Term] id: MP:0002182 name: abnormal astrocyte morphology def: "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" [CL:0000127, https://orcid.org/0000-0003-3691-0324] synonym: "abnormal astrocytes morphology" EXACT [] synonym: "abnormal astrocytic glia morphology" EXACT [] synonym: "abnormal astroglia morphology" EXACT [] synonym: "abnormal astroglial cell morphology" EXACT [] is_a: MP:0000952 ! abnormal CNS glial cell morphology [Term] id: MP:0002183 name: gliosis def: "increased growth pattern of neuroglia in a damaged area of the brain or spinal cord" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] is_a: MP:0003634 ! abnormal glial cell morphology [Term] id: MP:0002184 name: abnormal innervation def: "the malformation, misprojection, abnormal fasciculation or abnormal refinement of the connection, of nerve fibers to a target" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal axonal projection" EXACT [] synonym: "abnormal neuronal projection" EXACT [] synonym: "innervation abnormalities" EXACT [] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0002185 name: obsolete ectopia alt_id: MP:0002186 def: "OBSOLETE. congenital positional anomaly or displacement of any part of the body or organ" [ISBN:0-683-40008-8] synonym: "heterotopia" EXACT [] is_obsolete: true [Term] id: MP:0002187 name: abnormal fibula morphology def: "any structural anomaly of the lateral and smaller bone of the lower limb" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "fibula dysplasia" EXACT [] is_a: MP:0003857 ! abnormal hindlimb zeugopod morphology is_a: MP:0011504 ! abnormal limb long bone morphology [Term] id: MP:0002188 name: small heart def: "reduced size of the heart relative to average" [https://orcid.org/0000-0003-3691-0324] synonym: "decreased heart size" EXACT [] synonym: "reduced heart size" EXACT [] is_a: MP:0005406 ! abnormal heart size [Term] id: MP:0002189 name: abnormal myocardial trabeculae morphology def: "any structural anomaly of the supporting bundles of muscular fibers lining the walls of the heart" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal myocardium trabecular layer morphology" EXACT [] synonym: "abnormal trabeculae morphology" BROAD [] is_a: MP:0005329 ! abnormal myocardium layer morphology [Term] id: MP:0002190 name: disorganized myocardium def: "derangement of the patterned architecture of the myocardium" [ISBN:0-683-40008-8] synonym: "disorganised myocardium" EXACT [] is_a: MP:0005329 ! abnormal myocardium layer morphology [Term] id: MP:0002191 name: abnormal artery morphology def: "any structural anomaly of the blood vessels that carry blood away from the heart" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal arteries morpholgy" EXACT [] synonym: "arterial dysplasia" EXACT [] synonym: "artery dysplasia" EXACT [] is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0002192 name: hydrops fetalis def: "an abnormal accumulation of serous fluid in fetal tissues" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: IMPC_Prenatal subset: Sanger_Terms synonym: "fetal edema" EXACT [] synonym: "fetal oedema" EXACT [] synonym: "foetal edema" EXACT [] synonym: "foetal oedema" EXACT [] synonym: "hydrops foetalis" EXACT [] is_a: MP:0001785 ! edema [Term] id: MP:0002193 name: minimal clonic seizures def: "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" [https://orcid.org/0000-0003-3691-0324, MGI:wf] is_a: MP:0001650 ! abnormal seizure response to electrical stimulation [Term] id: MP:0002194 name: maximal tonic hindlimb extension seizures def: "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)" [https://orcid.org/0000-0003-3691-0324, MGI:wf] synonym: "maximal tonic hind limb extension seizures" EXACT [] is_a: MP:0001650 ! abnormal seizure response to electrical stimulation [Term] id: MP:0002195 name: psychomotor seizures def: "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" [https://orcid.org/0000-0003-3691-0324, MGI:wf] synonym: "partial limbic seizures" EXACT [] is_a: MP:0001650 ! abnormal seizure response to electrical stimulation [Term] id: MP:0002196 name: absent corpus callosum def: "absence of the commissural plate interconnecting the cortical hemispheres of the brain" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: CvDC_Terms subset: IMPC subset: Sanger_Terms synonym: "absence of corpus callosum" EXACT [] synonym: "acallosal" EXACT [] synonym: "agenesis of corpus callosum" EXACT [] synonym: "corpus callosum absent" EXACT [] synonym: "corpus callosum agenesis" EXACT [] xref: Fyler:4321 is_a: MP:0000780 ! abnormal corpus callosum morphology [Term] id: MP:0002199 name: abnormal brain commissure morphology def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal commissure" BROAD [] is_a: MP:0000778 ! abnormal nervous system tract morphology is_a: MP:0008026 ! abnormal brain white matter morphology [Term] id: MP:0002200 name: abnormal brain ventricular system morphology def: "any structural anomaly of the brain ventricles, their associated choroid plexuses or the intercommunicating channels that connect the ventricular system" [ISBN:0-683-40008-8] synonym: "abnormal brain ventricle/choroid plexus" EXACT [] synonym: "abnormal brain ventricle/choroid plexus morphology" RELATED [] synonym: "abnormal choroid/ventricle" EXACT [] is_a: MP:0002152 ! abnormal brain morphology [Term] id: MP:0002201 name: obsolete abnormal neurotransmitter receptor physiology def: "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" [MGI:cwg] synonym: "neurotransmitter receptor defects" EXACT [] is_obsolete: true [Term] id: MP:0002204 name: abnormal synaptic neurotransmitter level def: "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" [GO:0007269, https://orcid.org/0000-0003-3691-0324] synonym: "neurotransmitter abnormalities" BROAD [] is_a: MP:0003635 ! abnormal synaptic transmission [Term] id: MP:0002205 name: obsolete neurotransmitter imbalance def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002206 name: abnormal CNS synaptic transmission def: "defect in the communication from a neuron to a target across a synapse in the central nervous system" [MESH:G04.335.880.850] synonym: "abnormal CNS neurotransmission" EXACT [] synonym: "abnormal synaptic transmission" BROAD [] is_a: MP:0003635 ! abnormal synaptic transmission [Term] id: MP:0002207 name: abnormal long-term potentiation alt_id: MP:0001472 alt_id: MP:0001896 alt_id: MP:0001897 alt_id: MP:0002154 def: "alterations in a persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells" [https://orcid.org/0000-0003-3691-0324, ISBN:0838580343] synonym: "abnormal long term potentiation" EXACT [] synonym: "abnormal LTP" EXACT [] synonym: "abnormal LTP: CA1 region" NARROW [] synonym: "abnormal LTP: CA3 region" NARROW [] synonym: "central nervous system: LTP anomalies" EXACT [] synonym: "long term potentiation abnormalities" EXACT [] xref: MGI:2173614 is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0002208 name: abnormal germ cell morphology def: "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" [ISBN:0-683-40008-8] is_a: MP:0001929 ! abnormal gametogenesis is_a: MP:0009840 ! abnormal foam cell morphology [Term] id: MP:0002209 name: decreased germ cell number def: "reduced numbers of any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] synonym: "decreased number of germ cells" EXACT [] synonym: "germ cell depletion" EXACT [] synonym: "germ cell hypoplasia" EXACT [] synonym: "reduced germ cell number" EXACT [] synonym: "reduced number of germ cells" EXACT [] is_a: MP:0002208 ! abnormal germ cell morphology [Term] id: MP:0002210 name: abnormal sex determination alt_id: MP:0001936 def: "anomaly of primary or secondary sexual development or characteristics" [MGI:cwg] synonym: "abnormal sexual differentiation" EXACT [] is_a: MP:0002160 ! abnormal reproductive system morphology [Term] id: MP:0002211 name: abnormal primary sex determination def: "aberrant gonadal development resulting in either abnormal or absent gonads or the development of gonads inconsistent with the chromosomal sex" [https://orcid.org/0000-0003-3691-0324, MGI:llw2] synonym: "abnormal gonad development" EXACT [] is_a: MP:0002210 ! abnormal sex determination [Term] id: MP:0002212 name: abnormal secondary sex determination def: "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" [MGI:llw2] is_a: MP:0002210 ! abnormal sex determination [Term] id: MP:0002213 name: true hermaphroditism def: "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" [ISBN:0-683-40008-8, MGI:llw2] is_a: MP:0002211 ! abnormal primary sex determination [Term] id: MP:0002214 name: streak gonad def: "impairment of genital ridge development; aplasia of gonadal tissue which is sometimes replaced with functionless tissue" [ISBN:0-683-40008-8, MGI:llw2] synonym: "gonadal streak" EXACT [] is_a: MP:0002211 ! abnormal primary sex determination is_a: MP:0003936 ! abnormal reproductive system development [Term] id: MP:0002215 name: obsolete testicular feminization def: "OBSOLETE. an XY animal displaying female sex characteristics, usually due to an X-linked mutation" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "androgen insensitivity" EXACT [] is_obsolete: true [Term] id: MP:0002216 name: abnormal seminiferous tubule morphology def: "any structural anomaly of the tubules in the testes where spermatogenesis occurs" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal seminiferous tubules morphology" EXACT [] synonym: "seminiferous tubule dysplasia" EXACT [] is_a: MP:0001146 ! abnormal testis morphology [Term] id: MP:0002217 name: small lymph nodes def: "lymph nodes of decreased size" [MGI:cwg] synonym: "decreased lymph node size" EXACT [] synonym: "reduced lymph node size" EXACT [] is_a: MP:0000701 ! abnormal lymph node size [Term] id: MP:0002218 name: increased lymph node number def: "greater than the normal number of lymph nodes" [MGI:cwg] is_a: MP:0000700 ! abnormal lymph node number [Term] id: MP:0002219 name: decreased lymph node number def: "fewer than the normal number of lymph nodes" [MGI:cwg] synonym: "reduced lymph node number" EXACT [] is_a: MP:0000700 ! abnormal lymph node number [Term] id: MP:0002220 name: large lymphoid organs def: "increased size of lymphatic tissues" [MGI:cwg] synonym: "increased lymphoid organs size" EXACT [] is_a: MP:0002221 ! abnormal lymph organ size [Term] id: MP:0002221 name: abnormal lymph organ size def: "change in the normal size of lymphatic tissues" [MGI:cwg] is_a: MP:0002722 ! abnormal immune system organ morphology [Term] id: MP:0002222 name: obsolete abnormal lymph organ cellularity def: "OBSOLETE. change in the normal number of cells within a lymph organ" [MGI:cwg] is_obsolete: true [Term] id: MP:0002223 name: lymphoid hypoplasia def: "decrease in the number of normal cells in normal arrangement in the lymphoid tissue, typically resulting in decreased size" [MGI:cwg] synonym: "decreased lymphoid tissue cellularity" RELATED [] synonym: "hypoplastic lymphoid organ" EXACT [] synonym: "lymph organ hypoplasia" EXACT [] is_a: MP:0000687 ! small lymphoid organs [Term] id: MP:0002224 name: abnormal spleen size def: "deviation from the normal spleen size" [MGI:cwg] synonym: "abnormal splenic size" RELATED [] is_a: MP:0000689 ! abnormal spleen morphology is_a: MP:0002221 ! abnormal lymph organ size [Term] id: MP:0002225 name: obsolete abnormal spleen cellularity def: "OBSOLETE. anomaly in the cellular makeup of the spleen" [MGI:cwg] synonym: "abnormal splenic cellularity" EXACT [] synonym: "spleen cellularity abnormalities" EXACT [] is_obsolete: true [Term] id: MP:0002227 name: abnormal spleen capsule morphology def: "any structural anomaly of the connective tissue that surrounds the spleen" [MGI:cwg] synonym: "abnormal splenic capsule morphology" EXACT [] is_a: MP:0000689 ! abnormal spleen morphology [Term] id: MP:0002228 name: abnormal spleen trabecular vein morphology def: "any structural anomaly of one of the veins that feed the splenic vein" [ISBN:0-397-51047-0, MGI:cwg] is_a: MP:0000689 ! abnormal spleen morphology [Term] id: MP:0002229 name: neurodegeneration def: "a retrogressive impairment of function or destruction of neural tissue" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "neuronal degeneration" EXACT [] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0002230 name: abnormal primitive streak formation def: "anomaly in the establishment of the midline ridge of embryonic epiblast that later develops into mesoderm and endoderm" [https://orcid.org/0000-0003-3691-0324, ISBN:0-12-402035-6] is_a: MP:0002231 ! abnormal primitive streak morphology [Term] id: MP:0002231 name: abnormal primitive streak morphology def: "anomaly in the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm" [https://orcid.org/0000-0003-3691-0324, ISBN:0-12-402035-6] synonym: "defective primitive streak" EXACT [] synonym: "primitive streak dysplasia" EXACT [] is_a: MP:0002085 ! abnormal embryonic tissue morphology [Term] id: MP:0002232 name: obsolete sensory capabilities def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002233 name: abnormal nose morphology def: "any structural anomaly of the organ that is specialized for smell and is part of the respiratory system" [MESH:A01.456.505.733, MGI:cwg] subset: CvDC_Terms synonym: "nasal malformation" EXACT [] synonym: "nose dysplasia" EXACT [] xref: Fyler:4870 is_a: MP:0002132 ! abnormal respiratory system morphology is_a: MP:0003743 ! abnormal facial morphology [Term] id: MP:0002234 name: abnormal pharynx morphology def: "any structural anomaly in the passage between the mouth and the posterior nares and the larynx and esophagus" [MGI:cwg] synonym: "pharynx dysplasia" EXACT [] is_a: MP:0002132 ! abnormal respiratory system morphology [Term] id: MP:0002235 name: abnormal external nares morphology def: "any structural anomaly of the anterior opening to the nasal cavity" [MGI:cwg] synonym: "abnormal anterior nares morphology" EXACT [] synonym: "abnormal nostril morphology" EXACT [] synonym: "external nares dysplasia" EXACT [] is_a: MP:0002233 ! abnormal nose morphology [Term] id: MP:0002236 name: abnormal internal nares morphology def: "any structural anomaly of the portion of the opening of the nasal cavity into the nasal pharynx" [MGI:cwg] synonym: "abnormal choanae morphology" EXACT [] synonym: "abnormal posterior nares morphology" EXACT [] synonym: "internal nares dysplasia" EXACT [] is_a: MP:0002233 ! abnormal nose morphology [Term] id: MP:0002237 name: abnormal nasal cavity morphology def: "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" [MESH:A04.531.449, MGI:cwg] synonym: "abnormal cavity of nose morphology" EXACT [] synonym: "abnormal cavity of olfactory apparatus morphology" EXACT [] synonym: "abnormal nasal canal morphology" EXACT [] synonym: "abnormal nasal conduit space morphology" EXACT [] synonym: "abnormal nasal fossa morphology" EXACT [] synonym: "abnormal olfactory cavity morphology" EXACT [] synonym: "abnormal olfactory chamber cavity morphology" EXACT [] synonym: "abnormal olfactory chamber morphology" EXACT [] is_a: MP:0002233 ! abnormal nose morphology [Term] id: MP:0002238 name: abnormal nasal mucosa morphology alt_id: MP:0001112 def: "any structural anomaly of the mucous membrane that lines the nasal cavity" [MESH:A04.760.600, MGI:cwg] synonym: "abnormal nasal mucous membrane" EXACT [] synonym: "nasal mucosa dysplasia" EXACT [] is_a: MP:0002233 ! abnormal nose morphology is_a: MP:0002277 ! abnormal respiratory mucosa morphology [Term] id: MP:0002239 name: abnormal nasal septum morphology def: "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" [http://www.medicinenet.com/script/main/art.asp?articlekey=13720, https://orcid.org/0000-0002-6490-7723, MESH:A04.531.591] synonym: "nasal septum dysplasia" EXACT [] is_a: MP:0002233 ! abnormal nose morphology [Term] id: MP:0002240 name: abnormal paranasal sinus morphology def: "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" [ISBN:0-683-40008-8] synonym: "abnormal paranasal sinuses morphology" EXACT [] synonym: "paranasal sinus dysplasia" EXACT [] is_a: MP:0002132 ! abnormal respiratory system morphology is_a: MP:0003743 ! abnormal facial morphology [Term] id: MP:0002241 name: abnormal laryngeal mucosa goblet cell morphology def: "any structural anomaly of the epithelial cells lining the larynx, which produce mucins" [ISBN:0-397-51047-0, MGI:cwg] synonym: "abnormal goblet cells of the laryngeal mucosa morphology" EXACT [] is_a: MP:0002261 ! abnormal laryngeal mucosa morphology [Term] id: MP:0002242 name: abnormal olfactory mucosa morphology def: "any structural anomaly of the portion of the nasal mucosa that contains the olfactory sensory endings" [MESH:A04.531.520.573, MGI:cwg] is_a: MP:0002238 ! abnormal nasal mucosa morphology is_a: MP:0005499 ! abnormal olfactory system morphology [Term] id: MP:0002243 name: abnormal vomeronasal organ morphology def: "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" [http://ctrgenpath.net/static/atlas/mousehistology/Windows/senses/jacobsonorgan.html, http://en.wikipedia.org/wiki/Vomeronasal_organ#Structure, https://orcid.org/0000-0003-3691-0324] comment: This organ is believed to function in sensing pheromones. While the structure has been thought to be absent from higher primate adults, some data suggests that a form may be present in adult humans. synonym: "abnormal Jacobson organ morphology" EXACT [] synonym: "abnormal Jacobson's organ morphology" EXACT [] synonym: "abnormal organon vomeronasale morphology" EXACT [] synonym: "abnormal organum vomeronasale morphology" EXACT [] synonym: "abnormal VNO morphology" EXACT [] synonym: "vomeronasal organ dysplasia" EXACT [] is_a: MP:0000959 ! abnormal somatic sensory system morphology is_a: MP:0002239 ! abnormal nasal septum morphology [Term] id: MP:0002244 name: abnormal turbinate morphology def: "any structural anomaly of the small curved bones that extends horizontally along the lateral wall of the nasal passage" [ISBN:0-683-40008-8] synonym: "abnormal nasal concha morphology" EXACT [] synonym: "abnormal turbinates morphology" EXACT [] synonym: "turbinate dysplasia" EXACT [] is_a: MP:0002233 ! abnormal nose morphology is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0002245 name: abnormal ethmoid sinus morphology def: "any structural anomaly of the evaginations of the mucous membrane of the nasal cavity into the ethmoidal bony labyrinth, forming multiple small paranasal sinuses" [ISBN:0-683-40008-8] synonym: "abnormal ethmoid air cell morphology" EXACT [] synonym: "abnormal ethmoid cell morphology" EXACT [] synonym: "ethmoid sinus dysplasia" EXACT [] is_a: MP:0002240 ! abnormal paranasal sinus morphology [Term] id: MP:0002246 name: abnormal frontal sinus morphology def: "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" [ISBN:0-683-40008-8] synonym: "frontal sinus dysplasia" EXACT [] is_a: MP:0002240 ! abnormal paranasal sinus morphology [Term] id: MP:0002247 name: abnormal maxillary sinus morphology def: "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" [ISBN:0-683-40008-8] synonym: "abnormal antrum of Highmore morphology" EXACT [] synonym: "abnormal genyantrum morphology" EXACT [] synonym: "abnormal maxillary antra morphology" EXACT [] synonym: "abnormal maxillary antrum morphology" EXACT [] synonym: "maxillary sinus dysplasia" EXACT [] is_a: MP:0002240 ! abnormal paranasal sinus morphology [Term] id: MP:0002248 name: abnormal sphenoid sinus morphology def: "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" [https://www.dartmouth.edu/~humananatomy/part_8/chapter_52.html, https://www.healthline.com/human-body-maps/sphenoid-sinus, ISBN:0-683-40008-8] synonym: "abnormal sphenoidal sinus morphology" EXACT [] synonym: "sphenoid sinus dysplasia" EXACT [] is_a: MP:0002240 ! abnormal paranasal sinus morphology [Term] id: MP:0002249 name: abnormal larynx morphology def: "any structural anomaly of the organ of voice production located between the pharynx and the trachea" [ISBN:0-683-40008-8] synonym: "larynx dysplasia" EXACT [] is_a: MP:0002132 ! abnormal respiratory system morphology [Term] id: MP:0002250 name: abnormal hypopharynx morphology def: "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" [MGI:cwg] synonym: "hypopharynx dysplasia" EXACT [] is_a: MP:0002234 ! abnormal pharynx morphology [Term] id: MP:0002251 name: abnormal nasopharynx morphology def: "any structural anomaly of the section of the pharynx that lies above the soft palate" [MGI:cwg] synonym: "nasopharynx dysplasia" EXACT [] is_a: MP:0002234 ! abnormal pharynx morphology [Term] id: MP:0002252 name: abnormal oropharynx morphology def: "any structural anomaly of the portion of the pharynx that lies between the soft palate and the upper edge of the epiglottis" [MGI:cwg] synonym: "oropharynx dysplasia" EXACT [] is_a: MP:0002234 ! abnormal pharynx morphology [Term] id: MP:0002253 name: abnormal pharyngeal muscle morphology def: "any structural anomaly of any of the muscles of the pharynx, the inferior, middle and superior constrictors, salpingopharyngeus, and stylopharyngeus" [MESH:A02.633.567.800, MGI:cwg] synonym: "pharyngeal muscle dysplasia" EXACT [] is_a: MP:0000759 ! abnormal skeletal muscle morphology is_a: MP:0002234 ! abnormal pharynx morphology [Term] id: MP:0002254 name: reproductive system inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in any of the reproductive organs" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0001919 ! abnormal reproductive system physiology [Term] id: MP:0002255 name: abnormal glottis morphology def: "any structural anomaly of the vocal apparatus of the larynx, which includes the vocal cords and the opening between them" [ISBN:0-397-51047-0, MGI:cwg] synonym: "glottis dysplasia" EXACT [] is_a: MP:0002249 ! abnormal larynx morphology [Term] id: MP:0002256 name: abnormal laryngeal cartilage morphology def: "any structural anomaly of the cartilaginous structures that support the larynx" [ISBN:0-397-51047-0, MGI:cwg] synonym: "laryngeal cartilage dysplasia" EXACT [] is_a: MP:0002249 ! abnormal larynx morphology is_a: MP:0004173 ! abnormal intervertebral disk morphology [Term] id: MP:0002257 name: abnormal arytenoid cartilage morphology def: "any structural anomaly of the paired triangular cartilages located postlaterally at the level of the thyroid cartilage" [ISBN:0-397-51047-0, MGI:cwg] synonym: "abnormal cartilago arytaenoidea morphology" EXACT [] synonym: "arytenoid cartilage dysplasia" EXACT [] is_a: MP:0002256 ! abnormal laryngeal cartilage morphology [Term] id: MP:0002258 name: abnormal cricoid cartilage morphology def: "any structural anomaly of the most inferior of the laryngeal cartilages" [ISBN:0-397-51047-0, MGI:cwg] synonym: "abnormal cartilago cricoidea morphology" EXACT [] synonym: "cricoid cartilage dysplasia" EXACT [] is_a: MP:0002256 ! abnormal laryngeal cartilage morphology [Term] id: MP:0002260 name: abnormal thyroid cartilage morphology def: "any structural anomaly of the largest of the laryngeal cartilages" [ISBN:0-397-51047-0, MGI:cwg] comment: The thyroid cartilage consists of two fused plates; their point of fusion is the "Adam's apple". synonym: "abnormal cartilago thyreoidea morphology" EXACT [] synonym: "thyroid cartilage dysplasia" EXACT [] is_a: MP:0002256 ! abnormal laryngeal cartilage morphology [Term] id: MP:0002261 name: abnormal laryngeal mucosa morphology def: "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" [ISBN:0-397-51047-0, MGI:cwg] synonym: "laryngeal mucosa dysplasia" EXACT [] is_a: MP:0002249 ! abnormal larynx morphology is_a: MP:0002277 ! abnormal respiratory mucosa morphology [Term] id: MP:0002262 name: abnormal nasal mucosa goblet cell morphology def: "any structural anomaly of the cells lining the nasal epithelium that produce and secrete mucins" [MGI:cwg] synonym: "abnormal goblet cells of the nasal mucosa morphology" EXACT [] synonym: "abnormal nasal mucous membrane" BROAD [] is_a: MP:0002238 ! abnormal nasal mucosa morphology [Term] id: MP:0002263 name: abnormal laryngeal muscle morphology def: "any structural anomaly of the muscles associated with the larynx" [ISBN:0-397-51047-0, MESH:A02.633.567.500, MGI:cwg] synonym: "abnormal laryngeal muscles morphology" EXACT [] synonym: "laryngeal muscle dysplasia" EXACT [] is_a: MP:0002249 ! abnormal larynx morphology is_a: MP:0030427 ! abnormal neck muscle morphology [Term] id: MP:0002264 name: abnormal bronchus morphology def: "any structural anomaly of the upper conducting airways of the lung; these airways arise from the terminus of the trachea" [ISBN:0-397-51047-0, MESH:A04.411.125, MGI:cwg] synonym: "abnormal bronchal morphology" EXACT [] synonym: "abnormal bronchi morphology" EXACT [] synonym: "bronchal dysplasia" EXACT [] synonym: "bronchi dysplasia" EXACT [] synonym: "bronchus dysplasia" EXACT [] is_a: MP:0004391 ! abnormal respiratory conducting tube morphology [Term] id: MP:0002265 name: abnormal left major bronchus morphology def: "any structural anomaly of the conducting airway leading to the left lobe of the lungs" [ISBN:0-397-51047-0, MGI:cwg] synonym: "left major bronchus dysplasia" EXACT [] is_a: MP:0002264 ! abnormal bronchus morphology [Term] id: MP:0002266 name: abnormal right major bronchus morphology def: "any structural anomaly of the conducting airway leading to the right lobe of the lungs" [ISBN:0-397-51047-0, MGI:cwg] synonym: "right major bronchus dysplasia" EXACT [] is_a: MP:0002264 ! abnormal bronchus morphology [Term] id: MP:0002267 name: abnormal bronchiole morphology def: "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" [ISBN:0-397-51047-0, MGI:cwg] synonym: "abnormal bronchioles morphology" EXACT [] synonym: "bronchiolar dysplasia" EXACT [] is_a: MP:0004391 ! abnormal respiratory conducting tube morphology [Term] id: MP:0002268 name: abnormal terminal bronchiole morphology def: "any structural anomaly of the last conducting structure of non-respiratory bronchioles; after this point, the airways have alveoli in their walls" [ISBN:0-397-51047-0, MGI:cwg] synonym: "abnormal terminal bronchioles morphology" EXACT [] synonym: "terminal bronchiolar dysplasia" EXACT [] is_a: MP:0002267 ! abnormal bronchiole morphology [Term] id: MP:0002269 name: muscular atrophy def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "muscle atrophy" EXACT [] is_a: MP:0002108 ! abnormal muscle morphology [Term] id: MP:0002270 name: abnormal pulmonary alveolus morphology def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal alveoli" BROAD [] synonym: "abnormal pulmonary alveoli morphology" EXACT [] synonym: "abnormal respiratory alveoli morphology" EXACT [] synonym: "abnormal respiratory alveolus morphology" EXACT [] is_a: MP:0010911 ! abnormal pulmonary acinus morphology [Term] id: MP:0002271 name: abnormal pulmonary alveolar duct morphology def: "any structural anomaly of the respiratory conducting tubes distal to the respiratory bronchiole that lead to the alveolar sacs and the alveoli" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal alveolar ducts morphology" EXACT [] synonym: "abnormal respiratory alveolar duct morphology" EXACT [] synonym: "pulmonary alveolar duct dysplasia" EXACT [] is_a: MP:0010911 ! abnormal pulmonary acinus morphology [Term] id: MP:0002272 name: abnormal nervous system electrophysiology alt_id: MP:0002677 def: "any functional anomaly of the nervous system as it relates to conduction of electrical impulses" [MGI:cwg] synonym: "abnormal electrophysiology" BROAD [] synonym: "electrophysiology abnormalities" BROAD [] synonym: "PNS electrophysiology abnormalities" NARROW [] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0002273 name: abnormal pulmonary alveolus epithelial cell morphology def: "any structural anomaly of the cells lining the alveoli" [MGI:cwg] synonym: "abnormal alveolar epithelial cells morphology" EXACT [] synonym: "abnormal lung epithelial cells morphology" EXACT [] synonym: "abnormal pneumocyte morphology" EXACT [] synonym: "abnormal pneumonocyte morphology" EXACT [] synonym: "abnormal respiratory alveolar epithelial cell morphology" EXACT [] synonym: "abnormal respiratory alveolus epithelial cell morphology" EXACT [] is_a: MP:0010898 ! abnormal pulmonary alveolus epithelium morphology is_a: MP:0010901 ! abnormal pulmonary alveolar parenchyma morphology [Term] id: MP:0002274 name: abnormal type I pneumocyte morphology def: "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" [PMID:20054144] synonym: "abnormal AT1 morphology" EXACT [] synonym: "abnormal ATI morphology" EXACT [] synonym: "abnormal lung type 1 cells morphology" EXACT [] synonym: "abnormal membranous pneumocytes morphology" EXACT [] synonym: "abnormal Pulmonary alveolar type I cell morphology" EXACT [] synonym: "abnormal small alveolar cells morphology" EXACT [] synonym: "abnormal squamous alveolar cell morphology" EXACT [] synonym: "abnormal squamous alveolar lining cell morphology" EXACT [] synonym: "abnormal type 1 alveolar epithelial cells morphology" EXACT [] synonym: "abnormal Type 1 pneumocyte morphology" EXACT [] synonym: "abnormal type I alveolar epithelial cells morphology" EXACT [] synonym: "abnormal type I cells morphology" EXACT [] synonym: "abnormal type I pneumocytes morphology" EXACT [] synonym: "abnormal type I pneumonocytes morphology" EXACT [] xref: CL:0002062 xref: FMA:62500 is_a: MP:0002273 ! abnormal pulmonary alveolus epithelial cell morphology [Term] id: MP:0002275 name: abnormal type II pneumocyte morphology def: "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" [https://orcid.org/0000-0002-6490-7723, ISBN:0412046911, PMID:8540632] synonym: "abnormal AT2 morphology" EXACT [] synonym: "abnormal ATII morphology" EXACT [] synonym: "abnormal Cuboidal type II cell morphology" EXACT [] synonym: "abnormal granular pneumocytes morphology" EXACT [] synonym: "abnormal Great alveolar cells morphology" EXACT [] synonym: "abnormal Lung type 2 cells morphology" EXACT [] synonym: "abnormal Lung type II cells morphology" EXACT [] synonym: "abnormal TII morphology" EXACT [] synonym: "abnormal type 2 alveolar epithelial cells morphology" EXACT [] synonym: "abnormal type 2 alveolocytes morphology" EXACT [] synonym: "abnormal type 2 pneumocyte morphology" EXACT [] synonym: "abnormal type II alveolar epithelial cells morphology" EXACT [] synonym: "abnormal type II alveolocytes morphology" EXACT [] synonym: "abnormal type II cells morphology" EXACT [] synonym: "abnormal type II pneumocytes morphology" EXACT [] synonym: "abnormal type II pneumonocytes morphology" EXACT [] xref: CL:0002063 xref: FMA:62501 is_a: MP:0002273 ! abnormal pulmonary alveolus epithelial cell morphology [Term] id: MP:0002276 name: abnormal lung interstitium morphology def: "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" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8, PMID:14635660] synonym: "abnormal pulmonary interstitium morphology" EXACT [] synonym: "lung interstitium dysplasia" EXACT [] is_a: MP:0001175 ! abnormal lung morphology [Term] id: MP:0002277 name: abnormal respiratory mucosa morphology def: "any structural anomaly of the mucous membrane lining the respiratory tract" [MESH:A04.760, MGI:cwg] synonym: "abnormal respiratory mucosal morphology" EXACT [] synonym: "respiratory mucosal dysplasia" EXACT [] is_a: MP:0010942 ! abnormal respiratory epithelium morphology [Term] id: MP:0002278 name: obsolete abnormal respiratory muscle morphology def: "OBSOLETE. structural anomaly of any of the muscles involved in breathing" [MGI:cwg] is_obsolete: true [Term] id: MP:0002279 name: abnormal diaphragm morphology alt_id: MP:0000760 def: "any structural anomaly of the thin musculomebranous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control" [ISBN:0-683-40008-8, MGI:cwg] subset: IMPC_Prenatal synonym: "diaphragm muscle dysplasia" EXACT [] is_a: MP:0003358 ! abnormal hypaxial muscle morphology [Term] id: MP:0002280 name: abnormal intercostal muscle morphology def: "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" [https://orcid.org/0000-0003-3691-0324, MESH:A02.633.567.900.500] synonym: "intercostal muscle dysplasia" EXACT [] is_a: MP:0003358 ! abnormal hypaxial muscle morphology [Term] id: MP:0002281 name: abnormal respiratory mucosa goblet cell morphology def: "any structural anomaly of the cells of the respiratory epithelial lining that produce and secrete mucins" [MGI:cwg] is_a: MP:0002277 ! abnormal respiratory mucosa morphology [Term] id: MP:0002282 name: abnormal trachea morphology def: "any structural anomaly of the tube descending from the larynx and branching into the right and left main bronchi" [MESH:A04.889, MGI:cwg] synonym: "trachea dysplasia" EXACT [] is_a: MP:0002132 ! abnormal respiratory system morphology [Term] id: MP:0002283 name: obsolete hyaline cartilage abnormalities def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true replaced_by: MP:0006429 [Term] id: MP:0002284 name: abnormal tracheal smooth muscle morphology def: "any structural anomaly of the smooth muscle lining the trachea" [ISBN:0-397-51047-0, MGI:cwg] is_a: MP:0000767 ! abnormal smooth muscle morphology is_a: MP:0002282 ! abnormal trachea morphology [Term] id: MP:0002285 name: abnormal tracheal ciliated epithelium morphology def: "any structural anomaly of the epithelial lining of the trachea which contains numerous ciliated cells" [ISBN:0-397-51047-0, MGI:cwg] is_a: MP:0002282 ! abnormal trachea morphology is_a: MP:0010942 ! abnormal respiratory epithelium morphology [Term] id: MP:0002286 name: cryptorchism def: "failure of one or both of the testes to descend into the scrotum around the time of birth" [https://orcid.org/0000-0003-3691-0324] subset: CvDC_Terms synonym: "abdominal testes" EXACT [] synonym: "absence of scrotal testes" EXACT [] synonym: "cryptorchidism" EXACT [] synonym: "undescended testes" EXACT [] xref: Fyler:4493 is_a: MP:0001146 ! abnormal testis morphology [Term] id: MP:0002287 name: obsolete reproductive system: fertility/fecundity characteristics def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002288 name: obsolete litter size def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002291 name: obsolete fecundity characteristics def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002292 name: abnormal gestational length def: "anomaly in the usual duration of time between when a fertilized egg implants in the wall of the uterus and the birth of offspring" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0003699 ! abnormal female reproductive system physiology [Term] id: MP:0002293 name: long gestation period def: "increase in the average duration of a pregnancy" [https://orcid.org/0000-0003-3691-0324] synonym: "increased gestation length" EXACT [] is_a: MP:0002292 ! abnormal gestational length [Term] id: MP:0002294 name: short gestation period def: "decrease in the average duration of a pregnancy" [https://orcid.org/0000-0003-3691-0324] synonym: "decreased gestation length" EXACT [] is_a: MP:0002292 ! abnormal gestational length [Term] id: MP:0002295 name: abnormal pulmonary circulation alt_id: MP:0001941 def: "any anomaly in the circulation of blood through the lungs" [MESH:G09.330.582.163.770, MGI:cwg] synonym: "abnormal respiratory circulation" EXACT [] synonym: "pulmonary circulation abnormalities" EXACT [] synonym: "respiratory circulation abnormalities" EXACT [] is_a: MP:0002128 ! abnormal blood circulation is_a: MP:0002133 ! abnormal respiratory system physiology [Term] id: MP:0002296 name: aspiration def: "inspiration into the airways of fluid or any foreign material" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0002314 ! abnormal respiratory mechanics [Term] id: MP:0002297 name: abnormal forced expiratory flow rates def: "anomaly in the rates of airflow during forced vital capacity determination" [MESH:E01.370.386.700.660.225, MGI:cwg] comment: Do not confuse with forced expiratory volume, a test of pulmonary ventilation. subset: Europhenome_Terms subset: IMPC is_a: MP:0002327 ! abnormal respiratory function [Term] id: MP:0002298 name: obsolete abnormal maximal expiratory flow rate def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002299 name: obsolete abnormal maximal expiratory flow-volume curve def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002300 name: obsolete abnormal maximal midexpiratory flow rate def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002301 name: obsolete abnormal peak expiratory flow rate def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002302 name: obsolete abnormal forced expiratory volume def: "OBSOLETE. anomaly in the maximum amount of air that can be expelled in a given number of seconds during a forced vital capacity determination" [MGI:cwg] is_obsolete: true [Term] id: MP:0002303 name: obsolete abnormal maximal voluntary ventilation def: "OBSOLETE. anomaly in the maximum amount of air that can be breathed in and blown out over a specified interval" [MGI:cwg] is_obsolete: true [Term] id: MP:0002304 name: abnormal total lung capacity def: "anomaly in the volume of air contained in the lungs at the end of maximal inspiration" [MESH:G09.772.765.850] is_a: MP:0001942 ! abnormal lung volume is_a: MP:0002314 ! abnormal respiratory mechanics [Term] id: MP:0002305 name: obsolete abnormal closing volume def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002306 name: abnormal functional residual capacity def: "anomaly in the volume of air remaining in the lungs at the end of a normal expiration" [MESH:G09.772.765.850.390, MGI:cwg] is_a: MP:0001942 ! abnormal lung volume [Term] id: MP:0002307 name: obsolete abnormal expiratory reserve volume def: "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" [MGI:cwg] is_obsolete: true [Term] id: MP:0002308 name: abnormal residual volume def: "anomaly in the volume of air remaining in the lungs at the end of maximal expiration" [MESH:G09.772.765.850.390.820, MGI:cwg] is_a: MP:0001942 ! abnormal lung volume [Term] id: MP:0002309 name: abnormal vital capacity def: "anomaly in the amount of air that is exhaled by a maximal expiration following a maximal inspiration" [MESH:G09.772.765.850.970, MGI:cwg] is_a: MP:0001942 ! abnormal lung volume [Term] id: MP:0002310 name: decreased susceptibility to hepatic steatosis def: "less likely than normal to develop hepatic steatosis" [MGI:cwg] synonym: "decreased susceptibility to fatty liver development" EXACT [] synonym: "increased resistance to fatty liver development" EXACT [] synonym: "increased resistance to hepatic steatosis" EXACT [] is_a: MP:0000598 ! abnormal liver morphology [Term] id: MP:0002311 name: abnormal inspiratory capacity def: "anomaly in the maximal volume of air that can be inspired after the end of a normal expiration" [MESH:E01.370.386.700.485.750.900.350, MGI:cwg] is_a: MP:0001942 ! abnormal lung volume [Term] id: MP:0002312 name: abnormal inspiratory reserve volume def: "anomaly in the extra volume of air that can be inspired with maximal effort after reaching the end of a normal inspiration" [MESH:G09.772.765.850.970.500.375, MGI:cwg] is_a: MP:0001942 ! abnormal lung volume [Term] id: MP:0002313 name: abnormal tidal volume def: "anomaly in the volume of air inspired or expired during each normal respiratory cycle" [MESH:G09.772.765.850.970.500.700, MGI:cwg] subset: Europhenome_Terms subset: IMPC is_a: MP:0001942 ! abnormal lung volume [Term] id: MP:0002314 name: abnormal respiratory mechanics def: "anomaly in the action of the lungs, diaphragm, ribs and chest wall during respiration" [MESH:G09.772.770.755.700, MGI:cwg] is_a: MP:0001943 ! abnormal respiration [Term] id: MP:0002315 name: obsolete abnormal respiratory signs/symptoms def: "OBSOLETE. manifestations of diseases of the respiratory tract" [MESH:C23.888.852, MGI:cwg] is_obsolete: true [Term] id: MP:0002316 name: anoxia def: "absence or almost complete absence of oxygen from inspired gases, in blood or tissues" [ISBN:0-683-40008-8, MGI:cwg] is_a: MP:0001574 ! abnormal oxygen level [Term] id: MP:0002318 name: hypercapnia def: "elevated concentration of CO2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "increased partial CO2 level" EXACT [] is_a: MP:0003860 ! abnormal carbon dioxide level [Term] id: MP:0002319 name: hyperoxia def: "elevated concentration of O2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "increased partial O2 level" EXACT [] is_a: MP:0001574 ! abnormal oxygen level [Term] id: MP:0002320 name: hyperventilation def: "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" [http://www.dorlands.com/] synonym: "increased alveolar ventilation" EXACT [] is_a: MP:0005575 ! increased pulmonary ventilation [Term] id: MP:0002321 name: hypoventilation def: "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" [http://www.dorlands.com/] synonym: "decreased alveolar ventilation" EXACT [] is_a: MP:0005576 ! decreased pulmonary ventilation [Term] id: MP:0002322 name: abnormal respiratory transport def: "anomaly in the process of gas exchange" [MESH:G06.535.166.775, MGI:cwg] is_a: MP:0001943 ! abnormal respiration [Term] id: MP:0002323 name: decreased susceptibility to hyperlipidemia def: "less likely than normal to develop abnormally high levels of circulating lipids" [MGI:cwg] synonym: "decreased susceptibility to hyperlipidaemia" EXACT [] synonym: "increased resistance to hyperlipidaemia" EXACT [] synonym: "increased resistance to hyperlipidemia" EXACT [] is_a: MP:0002118 ! abnormal lipid homeostasis [Term] id: MP:0002324 name: abnormal alveolocapillary membrane morphology def: "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" [MESH:A04.411.715.025, MGI:cwg] synonym: "abnormal alveolar-capillary barrier morphology" EXACT [] synonym: "abnormal alveolar-capillary membrane morphology" EXACT [] synonym: "abnormal alveolocapillary barrier morphology" EXACT [] synonym: "abnormal blood-air barrier morphology" EXACT [] synonym: "abnormal blood-gas barrier morphology" EXACT [] is_a: MP:0010900 ! abnormal pulmonary interalveolar septum morphology [Term] id: MP:0002325 name: abnormal pulmonary diffusing capacity def: "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" [MESH:G09.772.765.600, MGI:cwg] is_a: MP:0002336 ! abnormal pulmonary gas exchange [Term] id: MP:0002326 name: abnormal ventilation-perfusion ratio def: "anomaly in the ratio of alveolar ventilation to simultaneous capillary blood flow in the lung" [MESH:G09.772.765.920, MGI:cwg] comment: Changes in the ventilation-perfusion ratio alter the amount of O2 or CO2 in the blood. is_a: MP:0002295 ! abnormal pulmonary circulation is_a: MP:0002336 ! abnormal pulmonary gas exchange is_a: MP:0002338 ! abnormal pulmonary ventilation [Term] id: MP:0002327 name: abnormal respiratory function def: "anomaly in any measure of the processes involved in respiration" [MGI:cwg] is_a: MP:0001943 ! abnormal respiration [Term] id: MP:0002328 name: abnormal airway resistance def: "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" [MESH:E01.370.386.700.050, MGI:cwg] is_a: MP:0002314 ! abnormal respiratory mechanics is_a: MP:0002327 ! abnormal respiratory function [Term] id: MP:0002329 name: abnormal blood gas level def: "anomaly in the amount of oxygen and carbon dioxide in the blood" [MESH:E01.450.150.100.100, MGI:cwg] is_a: MP:0003948 ! abnormal gas homeostasis is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0002330 name: abnormal bronchial provocation def: "anomaly in the results of measures of responsiveness to allergens, pharmacological solutions, or control solutions" [MESH:E01.370.386.700.125, MGI:cwg] is_a: MP:0002327 ! abnormal respiratory function [Term] id: MP:0002332 name: abnormal exercise endurance def: "improved or impaired performance during controlled physical activity" [https://orcid.org/0000-0003-4606-0597] synonym: "abnormal exercise fitness" EXACT [] synonym: "abnormal exercise tests" RELATED [] is_a: MP:0005266 ! abnormal metabolism [Term] id: MP:0002333 name: abnormal lung compliance def: "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" [ISBN:070202788X, MESH:E01.370.386.700.475] comment: This is a measure of the stiffness of the lung and indicative for diseases that cause fibrosis or edema in the lungs. synonym: "abnormal pulmonary compliance" EXACT [] is_a: MP:0002314 ! abnormal respiratory mechanics [Term] id: MP:0002334 name: abnormal airway responsiveness alt_id: MP:0002331 def: "anomalous response in bronchial provocation tests" [MGI:cwg] synonym: "abnormal methacholine challenge" NARROW [] is_a: MP:0002330 ! abnormal bronchial provocation [Term] id: MP:0002335 name: decreased airway responsiveness def: "less easily provoked into bronchoconstriction during bronchial provocation testing" [MGI:cwg] synonym: "airway hyporesponsiveness" EXACT [] synonym: "reduced airway responsiveness" EXACT [] is_a: MP:0002334 ! abnormal airway responsiveness [Term] id: MP:0002336 name: abnormal pulmonary gas exchange def: "anomaly in the exchange of oxygen and carbon dioxide between the alveolar air and pulmonary capillary blood" [MESH:G09.772.770.755.760.602, MGI:cwg] is_a: MP:0002322 ! abnormal respiratory transport [Term] id: MP:0002337 name: abnormal whole-body plethysmography def: "anomaly in the measurements gathered in a chamber that encloses the body and in which changes in volume are recorded" [ISBN:0-683-40008-8, MESH:E01.370.386.700.615, MGI:cwg] subset: Europhenome_Terms subset: IMPC is_a: MP:0001942 ! abnormal lung volume [Term] id: MP:0002338 name: abnormal pulmonary ventilation def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] comment: Do not confuse with pulmonary ventilation rate (aka respiratory rate). Pulmonary ventilation is the volume of air per minute; pulmonary ventilation rate is the number of breaths per minute. synonym: "abnormal respiratory minute ventilation" RELATED [] synonym: "abnormal respiratory minute volume" EXACT [] is_a: MP:0002314 ! abnormal respiratory mechanics [Term] id: MP:0002339 name: abnormal lymph node morphology alt_id: MP:0000699 alt_id: MP:0005024 def: "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" [https://orcid.org/0000-0003-3691-0324, MESH:A10.549.400] synonym: "abnormal lymph gland morphology" EXACT [] synonym: "abnormal lymph node structure" EXACT [] synonym: "lymph node abnormalities" BROAD [] synonym: "lymph node dysplasia" EXACT [] is_a: MP:0002722 ! abnormal immune system organ morphology [Term] id: MP:0002340 name: abnormal axillary lymph node morphology def: "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" [ISBN:0-683-40008-8] synonym: "axillary lymph node abnormalities" EXACT [] is_a: MP:0008463 ! abnormal peripheral lymph node morphology [Term] id: MP:0002341 name: obsolete abnormal lymph node capsule def: "OBSOLETE. anomaly in the connective tissue that surrounds a lymph node" [ISBN:0-397-51047-0, MGI:cwg] is_obsolete: true [Term] id: MP:0002342 name: abnormal lymph node trabecula morphology def: "any structural anomaly of the membranous processes on the internal surface of the lymph node capsule, consisting of connective tissue and muscle fibers" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal lymph node trabeculae morphology" EXACT [] synonym: "lymph node trabecula dysplasia" EXACT [] synonym: "lymph node trabeculae dysplasia" EXACT [] is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0002343 name: abnormal lymph node cortex morphology def: "any structural anomaly in the outer area of the lymph node that has B and T cell domains" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0002344 name: abnormal lymph node B cell domain morphology def: "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" [PMID:17067937] synonym: "abnormal lymph node B cell dependent cortex morphology" EXACT [] synonym: "abnormal lymph node B-cell domain morphology" EXACT [] synonym: "abnormal nodular lymph node cortex morphology" EXACT [] is_a: MP:0002343 ! abnormal lymph node cortex morphology [Term] id: MP:0002345 name: abnormal lymph node primary follicle morphology def: "any structural anomaly of an unstimulated network of follicular dendritic cells and small resting B cells in the lymph node cortex" [ISBN:0716749475] comment: Cells in the primary follicle consist of cohesive aggregates of small, normal-appearing lymphocytes. is_a: MP:0002344 ! abnormal lymph node B cell domain morphology [Term] id: MP:0002346 name: abnormal lymph node secondary follicle morphology def: "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" [ISBN:0716749475] is_a: MP:0002344 ! abnormal lymph node B cell domain morphology [Term] id: MP:0002347 name: abnormal lymph node T cell domain morphology def: "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" [PMID:17067937] synonym: "abnormal lymph node deep cortex morphology" EXACT [] synonym: "abnormal lymph node T cell dependent paracortex morphology" EXACT [] synonym: "abnormal lymph node T-cell domain morphology" EXACT [] is_a: MP:0002343 ! abnormal lymph node cortex morphology [Term] id: MP:0002348 name: abnormal lymph node medulla morphology def: "any structural anomaly in the area of the lymph node through which lymph leaves the node; it contains macrophages and antibody-secreting plasma cells" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "abnormal medullary sinus" NARROW [] synonym: "lymph node medulla dysplasia" EXACT [] is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0002349 name: abnormal afferent lymphatic vessel morphology def: "any structural anomaly in the lymphatic tubes entering the lymph node" [MGI:cwg] xref: MA:0000748 is_a: MP:0001879 ! abnormal lymphatic vessel morphology is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0002350 name: abnormal efferent lymphatic vessel morphology def: "any structural anomaly in the lymphatic tube exiting the lymph node" [MGI:cwg] xref: MA:0000749 is_a: MP:0001879 ! abnormal lymphatic vessel morphology is_a: MP:0002339 ! abnormal lymph node morphology [Term] id: MP:0002351 name: abnormal cervical lymph node morphology def: "any structural anomaly of the lymph nodes found near the neck and shoulders" [MGI:cwg] synonym: "cervical lymph node dysplasia" EXACT [] is_a: MP:0008463 ! abnormal peripheral lymph node morphology [Term] id: MP:0002352 name: abnormal popliteal lymph node morphology def: "any structural anomaly of the lymph nodes which drain the legs" [MGI:cwg] synonym: "popliteal lymph node dysplasia" EXACT [] is_a: MP:0008463 ! abnormal peripheral lymph node morphology [Term] id: MP:0002353 name: abnormal inguinal lymph node morphology def: "any structural anomaly of the lymph nodes located in the groin area" [MGI:cwg] synonym: "inguinal lymph node dysplasia" EXACT [] is_a: MP:0008463 ! abnormal peripheral lymph node morphology [Term] id: MP:0002354 name: abnormal spleen trabecular artery morphology def: "any structural anomaly of one of the branches of the splenic artery" [ISBN:0-397-51047-0, MGI:cwg] is_a: MP:0000689 ! abnormal spleen morphology is_a: MP:0011655 ! abnormal systemic artery morphology [Term] id: MP:0002355 name: obsolete abnormal spleen venous sinus def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002356 name: abnormal spleen red pulp morphology def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal splenic red pulp morphology" EXACT [] is_a: MP:0000689 ! abnormal spleen morphology [Term] id: MP:0002357 name: abnormal spleen white pulp morphology def: "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" [https://orcid.org/0000-0003-3691-0324] comment: Note that there is no consensus in the literature about which compartments constitute the white pulp or the ramifications of the microvasculature. In addition, notable differences exist between humans and rodents. In this ontology, the marginal sinus and marginal zone have been included as part of the white pulp. synonym: "abnormal splenic white pulp morphology" EXACT [] is_a: MP:0000689 ! abnormal spleen morphology [Term] id: MP:0002358 name: abnormal spleen periarteriolar lymphoid sheath morphology def: "any structural anomaly of the area of the spleen in which T cells surround the central arteriole" [ISBN:0-397-51047-0, ISBN:0-8153-1691-7, MGI:cwg] synonym: "abnormal PALS morphology" EXACT [] synonym: "abnormal periarteriolar sheath morphology" EXACT [] synonym: "abnormal splenic periarteriolar lymphoid sheath morphology" EXACT [] synonym: "abnormal T cell domain of the splenic white pulp morphology" EXACT [] is_a: MP:0002357 ! abnormal spleen white pulp morphology [Term] id: MP:0002359 name: abnormal spleen germinal center morphology def: "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" [PMID:17495967] comment: Germinal centers are often identified by the binding of peanut agglutinin (PNA). synonym: "abnormal spleen follicle center morphology" EXACT [] synonym: "abnormal spleen follicle centre morphology" EXACT [] synonym: "abnormal spleen GC morphology" EXACT [] synonym: "abnormal spleen germinal centre morphology" EXACT [] synonym: "abnormal splenic germinal center morphology" EXACT [] synonym: "abnormal splenic germinal centre morphology" EXACT [] is_a: MP:0008472 ! abnormal spleen secondary B follicle morphology [Term] id: MP:0002360 name: abnormal spleen B cell corona morphology def: "any structural anomaly of the area of the spleen secondary B follicle that surrounds the germinal center and harbors the small recirculating B lymphocytes" [PMID:17495967] synonym: "abnormal B cell domain of the spleen" BROAD [] synonym: "abnormal follicle mantle morphology" EXACT [] synonym: "abnormal lymphocytic corona" BROAD [] synonym: "abnormal mantle zone" EXACT [] synonym: "abnormal spleen B-cell corona morphology" EXACT [] synonym: "abnormal splenic B cell corona morphology" EXACT [] is_a: MP:0008472 ! abnormal spleen secondary B follicle morphology [Term] id: MP:0002361 name: abnormal spleen central arteriole morphology def: "any structural anomaly of the blood vessel surrounded by the periarteriolar lymphoid sheath that connects the trabecular artery to the trabecular vein" [ISBN:0-8153-1691-7] synonym: "abnormal CA morphology" EXACT [] synonym: "abnormal follicular arteriole morphology" EXACT [] synonym: "abnormal splenic central arteriole morphology" EXACT [] is_a: MP:0002357 ! abnormal spleen white pulp morphology [Term] id: MP:0002362 name: abnormal spleen marginal zone morphology def: "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" [ISBN:0-683-40008-8] comment: Note that there is no consensus in the literature about which compartments constitute the white pulp or the ramifications of the microvasculature. In addition, notable differences exist between humans and rodents. In this ontology, the marginal zone has been included as part of the white pulp. synonym: "abnormal splenic marginal zone morphology" EXACT [] is_a: MP:0002357 ! abnormal spleen white pulp morphology [Term] id: MP:0002363 name: abnormal spleen marginal sinus morphology def: "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" [PMID:11485909] comment: Note that there is no consensus in the literature about which compartments constitute the white pulp or the ramifications of the microvasculature. In addition, notable differences exist between humans and rodents. In this ontology, the marginal sinus (which may not exist in human) has been included as part of the white pulp. The perifollicular zone, which is present in human and not rodents, may be the functional equivalent of the marginal sinus in rodents. synonym: "abnormal splenic marginal sinus morphology" EXACT [] is_a: MP:0002357 ! abnormal spleen white pulp morphology [Term] id: MP:0002364 name: abnormal thymus size def: "deviation from the normal size of the thymus" [MGI:cwg] is_a: MP:0000703 ! abnormal thymus morphology is_a: MP:0002221 ! abnormal lymph organ size [Term] id: MP:0002365 name: obsolete abnormal thymus cellularity def: "OBSOLETE. anomaly in the cellular makeup of the thymus" [MGI:cwg] synonym: "abnormal thymic cellularity" EXACT [] is_obsolete: true [Term] id: MP:0002367 name: abnormal thymus lobule morphology def: "any structural anomaly of the basic structural unit of the thymus" [ISBN:0-397-51047-0, MGI:cwg] synonym: "thymus lobule dysplasia" EXACT [] is_a: MP:0000703 ! abnormal thymus morphology [Term] id: MP:0002368 name: abnormal thymus capsule morphology def: "any structural anomaly of the fibrous connective tissue surrounding the thymus" [MGI:cwg] synonym: "thymus capsule dysplasia" EXACT [] is_a: MP:0000703 ! abnormal thymus morphology [Term] id: MP:0002369 name: abnormal thymus subcapsular epithelium morphology def: "any structural anomaly of the epithelial cells lining the capsule and trabeculae of the thymus" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "abnormal subcapsular epithelium of the thymus morphology" EXACT [] is_a: MP:0009544 ! abnormal thymus epithelium morphology [Term] id: MP:0002370 name: abnormal thymus trabecula morphology def: "any structural anomaly of the thymic connective tissue which extends into the parenchyma" [ISBN:0-397-51047-0, MGI:cwg] synonym: "abnormal thymus trabeculae morphology" EXACT [] synonym: "thymus trabecula dysplasia" EXACT [] is_a: MP:0000703 ! abnormal thymus morphology [Term] id: MP:0002371 name: abnormal thymus cortex morphology def: "any structural anomaly of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes" [ISBN:0-683-40008-8] comment: The thymic cortex contains immature thymocytes, cortical epithelial cells, and scattered macrophages. synonym: "thymus cortex dysplasia" EXACT [] is_a: MP:0002367 ! abnormal thymus lobule morphology [Term] id: MP:0002373 name: obsolete abnormal macrophages in the thymus def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002374 name: obsolete abnormal thymus epithelial cells def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002375 name: abnormal thymus medulla morphology def: "any structural anomaly of the inner area of thymus lobules" [ISBN:0-8153-1691-7, MGI:cwg] comment: The thymic medulla contains mature thymocytes, medulla epithelial cells, macrophages and dendritic cells. synonym: "thymus medulla dysplasia" EXACT [] is_a: MP:0002367 ! abnormal thymus lobule morphology [Term] id: MP:0002376 name: abnormal dendritic cell physiology def: "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" [J:85808, MESH:A11.066.270] synonym: "abnormal dendritic cell function" EXACT [] synonym: "abnormal interdigitating reticular cell physiology" EXACT [] is_a: MP:0002452 ! abnormal professional antigen presenting cell physiology [Term] id: MP:0002377 name: abnormal mucosa-associated lymphoid tissue morphology def: "any structural anomaly of the regional immune system associated with the mucosa" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "MALT abnormalities" BROAD [] synonym: "MALT dysplasia" EXACT [] synonym: "mucosa-associated lymphoid tissue abnormalities" BROAD [] synonym: "mucosa-associated lymphoid tissue dysplasia" EXACT [] is_a: MP:0002722 ! abnormal immune system organ morphology [Term] id: MP:0002378 name: abnormal gut-associated lymphoid tissue morphology def: "any structural anomaly of the regional immune system located in the gut" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "GALT abnormalities" BROAD [] synonym: "GALT dysplasia" EXACT [] synonym: "gut-associated lymphoid tissue abnormalities" BROAD [] synonym: "gut-associated lymphoid tissue dysplasia" EXACT [] is_a: MP:0002722 ! abnormal immune system organ morphology [Term] id: MP:0002379 name: abnormal oropharyngeal lymphoid tissue morphology def: "any structural anomaly of the circular lymphoid tissue formed by the lingual, pharyngeal, and facial tonsils" [MGI:cwg] synonym: "abnormal Waldeyer's ring morphology" EXACT [] synonym: "oropharyngeal lymphoid tissue dysplasia" EXACT [] is_a: MP:0002377 ! abnormal mucosa-associated lymphoid tissue morphology [Term] id: MP:0002380 name: abnormal palatine tonsil morphology def: "any structural anomaly of either of the two small almond-shaped masses of lymph tissue found on either side of the oropharynx" [MGI:cwg] synonym: "abnormal tonsil morphology" BROAD [] is_a: MP:0002379 ! abnormal oropharyngeal lymphoid tissue morphology [Term] id: MP:0002381 name: obsolete abnormal tonsil capsule def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002382 name: obsolete abnormal lymphatic nodules with germinal centers def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002383 name: obsolete abnormal tonsil crypts def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002384 name: abnormal nasopharyngeal tonsil morphology def: "any structural anomaly of the lymph tissue in the roof and posterior wall of the nasopharynx" [MGI:cwg] synonym: "abnormal adenoid morphology" EXACT [] synonym: "adenoid dysplasia" EXACT [] synonym: "nasopharyngeal tonsil dysplasia" EXACT [] is_a: MP:0002379 ! abnormal oropharyngeal lymphoid tissue morphology [Term] id: MP:0002385 name: abnormal lingual tonsillar tissue morphology def: "any structural anomaly of the lymph tissue on the floor of the oropharyngeal passage, near the root of the tongue" [MGI:cwg] synonym: "lingual tonsillar tissue dysplasia" EXACT [] is_a: MP:0002379 ! abnormal oropharyngeal lymphoid tissue morphology [Term] id: MP:0002386 name: abnormal tubal tonsil morphology def: "any structural anomaly of the lymph tissue associated with the pharyngeal opening of the auditory tube" [MGI:cwg] is_a: MP:0002379 ! abnormal oropharyngeal lymphoid tissue morphology [Term] id: MP:0002387 name: obsolete abnormal prevalence of Peyer's patches def: "OBSOLETE. deviation from the normal distribution and/or number of Peyer's patches" [MGI:cwg] is_obsolete: true consider: MP:0008131 consider: MP:0008134 [Term] id: MP:0002388 name: abnormal Peyer's patch epithelium morphology def: "any structural anomaly of the specialized epithelium of the Peyer's patch" [ISBN:0-8153-1691-7, MGI:cwg] comment: Antigen normally enters the Peyer's patch via this specialized epithelium. is_a: MP:0000488 ! abnormal intestinal epithelium morphology is_a: MP:0000696 ! abnormal Peyer's patch morphology [Term] id: MP:0002389 name: abnormal Peyer's patch follicle morphology def: "any structural anomaly of the area of the Peyer's patch normally occupied by B cells" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0000696 ! abnormal Peyer's patch morphology [Term] id: MP:0002390 name: obsolete abnormal Peyer's patch dome def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002391 name: abnormal Peyer's patch germinal center morphology def: "any structural anomaly of the area of the Peyer's patch where B cells proliferate and differentiate into plasma cells" [ISBN:0-8153-1691-7, MGI:cwg] comment: Germinal centers are often identified by the binding of peanut agglutinin (PNA). synonym: "abnormal Peyer's patch germinal centre morphology" EXACT [] is_a: MP:0002389 ! abnormal Peyer's patch follicle morphology [Term] id: MP:0002392 name: abnormal Peyer's patch T cell area morphology def: "any structural anomaly of the Peyer's patch area normally occupied by T lymphocytes" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0002389 ! abnormal Peyer's patch follicle morphology [Term] id: MP:0002393 name: abnormal bronchus-associated lymphoid tissue morphology def: "any structural anomaly of the regional immune system located near the bronchus" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "abnormal bronchial-associated lymphoid tissue morphology" EXACT [] synonym: "BALT abnormalities" BROAD [] synonym: "BALT dysplasia" EXACT [] synonym: "bronchial-associated lymphoid tissue abnormalities" BROAD [] synonym: "bronchus-associated lymphoid tissue abnormalities" BROAD [] is_a: MP:0002722 ! abnormal immune system organ morphology [Term] id: MP:0002394 name: obsolete absent thymocyte subset def: "OBSOLETE. lack of a particular group of T cells" [MGI:cwg] synonym: "absence of thymocyte subset" EXACT [] is_obsolete: true [Term] id: MP:0002395 name: obsolete hemolymphoid system abnormalities def: "OBSOLETE. anomalies of the blood and blood-forming tissues or of the immune system and immune cell forming tissues" [MGI:cwg] synonym: "hematolymphoid system abnormalities" EXACT [] is_obsolete: true [Term] id: MP:0002396 name: abnormal hematopoietic system morphology/development def: "any structural or developmental anomaly of the blood cells or the organs associated with the development and formation of blood cells" [MGI:cwg] synonym: "abnormal blood morphology" EXACT [] synonym: "abnormal haematopoietic system morphology/development" EXACT [] synonym: "abnormal haemopoietic system morphology/development" EXACT [] synonym: "abnormal hemopoietic system morphology/development" EXACT [] synonym: "haematopoietic organ abnormalities" EXACT [] synonym: "haematopoietic system dysplasia" EXACT [] synonym: "hematopoietic organ abnormalities" BROAD [] synonym: "hematopoietic system dysplasia" RELATED [] is_a: MP:0005397 ! hematopoietic system phenotype [Term] id: MP:0002397 name: abnormal bone marrow morphology def: "any structural anomaly of the soft tissue that fills the cavities of bones" [MGI:cwg] comment: Note that this term refers to the contents of the bone marrow cavity, not to the structure of the cavity itself. synonym: "bone marrow abnormalities" BROAD [] is_a: MP:0003795 ! abnormal bone structure [Term] id: MP:0002398 name: abnormal bone marrow cell morphology/development def: "any structural anomaly of the cells found in the bone marrow" [MGI:cwg] synonym: "bone marrow cell abnormalities" BROAD [] is_a: MP:0002396 ! abnormal hematopoietic system morphology/development [Term] id: MP:0002399 name: abnormal pluripotent precursor cell morphology def: "any structural anomaly of the cells that give rise to most types of cells necessary for fetal development" [MESH:A11.872.700, MGI:cwg] synonym: "pluripotent stem cell abnormalities" BROAD [] is_a: MP:0002085 ! abnormal embryonic tissue morphology [Term] id: MP:0002400 name: abnormal multipotent stem cell morphology def: "any structural anomaly of the specialized cells that are committed to giving rise to cells with particular functions" [MESH:A11.872.590, MGI:cwg] synonym: "multipotent stem cell abnormalities" BROAD [] is_a: MP:0002399 ! abnormal pluripotent precursor cell morphology [Term] id: MP:0002401 name: abnormal lymphopoiesis alt_id: MP:0000310 alt_id: MP:0001640 alt_id: MP:0001880 alt_id: MP:0008110 def: "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" [MESH:G04.335.151.825.597.500] synonym: "abnormal lymphocyte differentiation" EXACT [] synonym: "lymphopoiesis abnormalities" EXACT [] is_a: MP:0002619 ! abnormal lymphocyte morphology is_a: MP:0005460 ! abnormal leukopoiesis [Term] id: MP:0002403 name: abnormal pre-B cell morphology def: "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" [ISBN:0-8153-1691-7, MGI:cwg] comment: These cells express the mu heavy chain in both the cytoplasm and on the cell surface; in addition to the mu heavy chain, other cell surface markers include CD45R, MHC class II, CD19, CD20, CD38, and CD40. synonym: "abnormal pre-B-cell morphology" EXACT [] is_a: MP:0004939 ! abnormal B cell morphology [Term] id: MP:0002404 name: increased intestinal adenoma incidence def: "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" [https://orcid.org/0000-0002-0371-1954] synonym: "increased intestinal adenomata incidence" EXACT [] synonym: "increased intestine adenoma incidence" EXACT [] is_a: MP:0010279 ! increased gastrointestinal tumor incidence is_a: MP:0010383 ! increased adenoma incidence [Term] id: MP:0002405 name: respiratory system inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the respiratory system" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0002133 ! abnormal respiratory system physiology [Term] id: MP:0002406 name: increased susceptibility to infection alt_id: MP:0002550 alt_id: MP:0003001 def: "greater likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens" [ISBN:0-683-40008-8, MGI:cwg] synonym: "decreased resistance to infection" EXACT [] synonym: "susceptibility to infection" BROAD [] is_a: MP:0001793 ! abnormal susceptibility to infection [Term] id: MP:0002407 name: abnormal double-negative T cell morphology def: "any structural anomaly of the subset of T cells found in the thymus that express neither CD4 nor CD8" [ISBN:0-8153-1691-7, MGI:cwg] comment: These are precursors to mature T cells; normally, they do not circulate, but are found in the thymus and they have not undergone rearrangement of the alpha and beta T cell receptor genes. synonym: "abnormal double negative T cell morphology" EXACT [] synonym: "CD4-CD8- T cell abnormalities" EXACT [] synonym: "double-negative T cell abnormalities" EXACT [] synonym: "double-negative T-cell abnormalities" EXACT [] is_a: MP:0002145 ! abnormal T cell differentiation [Term] id: MP:0002408 name: abnormal double-positive T cell morphology def: "any anomaly of the subset of T cells found in the thymus that express both CD4 and CD8" [ISBN:0-8153-1691-7, MGI:cwg] comment: These cells are precursors to mature T cells and are generally located in the thymus; during their development, the alpha and beta chains of the T cell receptor are rearranged and the TCR receptor can be expressed. synonym: "abnormal double positive T cell morphology" EXACT [] synonym: "CD4+CD8+ T cell abnormalities" EXACT [] synonym: "double-positive T cell abnormalities" EXACT [] synonym: "double-positive T-cell abnormalities" EXACT [] is_a: MP:0002145 ! abnormal T cell differentiation is_a: MP:0012762 ! abnormal alpha-beta T cell morphology [Term] id: MP:0002409 name: decreased susceptibility to infection alt_id: MP:0002549 alt_id: MP:0003002 def: "reduced likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens" [ISBN:0-683-40008-8, MGI:cwg] synonym: "increased resistance to infection" EXACT [] synonym: "reduced susceptibility to infection" EXACT [] synonym: "resistance to infection" EXACT [] is_a: MP:0001793 ! abnormal susceptibility to infection [Term] id: MP:0002410 name: decreased susceptibility to viral infection def: "reduced likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus" [MGI:cwg] synonym: "increased resistance to viral infection" EXACT [] synonym: "reduced susceptibility to viral infection" EXACT [] is_a: MP:0002409 ! decreased susceptibility to infection is_a: MP:0020185 ! abnormal susceptibility to viral infection [Term] id: MP:0002411 name: decreased susceptibility to bacterial infection def: "reduced likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria" [MGI:cwg] subset: IMPC subset: Sanger_Terms synonym: "increased resistance to bacterial infection" EXACT [] synonym: "reduced susceptibility to bacterial infection" EXACT [] is_a: MP:0002409 ! decreased susceptibility to infection is_a: MP:0020186 ! abnormal susceptibility to bacterial infection [Term] id: MP:0002412 name: increased susceptibility to bacterial infection def: "greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria" [MGI:cwg] subset: IMPC subset: Sanger_Terms synonym: "decreased resistance to bacterial infection" EXACT [] is_a: MP:0002406 ! increased susceptibility to infection is_a: MP:0020186 ! abnormal susceptibility to bacterial infection [Term] id: MP:0002413 name: abnormal megakaryocyte progenitor cell morphology def: "any structural anomaly of the progenitor cells of the thrombocytic (platelet) line of cells" [MGI:cwg] synonym: "abnormal CFU-Mk morphology" EXACT [] synonym: "abnormal colony forming unit megakaryocyte morphology" EXACT [] synonym: "abnormal megacaryoblast morphology" RELATED [] synonym: "abnormal megacaryocyte progenitor cell morphology" EXACT [] synonym: "abnormal megakaryoblast morphology" EXACT [] synonym: "abnormal megakaryoblast morphology/development" RELATED [] synonym: "abnormal promegacaryocyte morphology" EXACT [] synonym: "abnormal promegakaryocyte morphology" EXACT [] synonym: "megakaryoblast abnormalities" BROAD [] is_a: MP:0002398 ! abnormal bone marrow cell morphology/development is_a: MP:0013658 ! abnormal myeloid cell morphology is_a: MP:0013707 ! abnormal hematopoietic precursor cell morphology [Term] id: MP:0002414 name: abnormal myeloblast morphology/development def: "any structural anomaly of the cells found in the bone marrow that give rise to the granulocyte line of blood cells" [MGI:cwg] synonym: "myeloblast abnormalities" BROAD [] is_a: MP:0002398 ! abnormal bone marrow cell morphology/development [Term] id: MP:0002415 name: abnormal neutrophil differentiation def: "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" [MESH:A11.118.637.415.583, MGI:cwg] synonym: "abnormal neutrophil development" EXACT [] is_a: MP:0002414 ! abnormal myeloblast morphology/development is_a: MP:0005065 ! abnormal neutrophil morphology is_a: MP:0008111 ! abnormal granulocyte differentiation [Term] id: MP:0002416 name: abnormal proerythroblast morphology def: "any structural anomaly of the immature, nucleated erythrocyte precursors that give rise to reticulocytes and are derived from erythroid progenitor cells" [MESH:A11.148.378.590.249.200, MGI:cwg] synonym: "abnormal proerythroblast morphology/development" EXACT [] synonym: "proerythroblast abnormalities" EXACT [] is_a: MP:0002398 ! abnormal bone marrow cell morphology/development is_a: MP:0013659 ! abnormal erythroid lineage cell morphology [Term] id: MP:0002417 name: abnormal megakaryocyte morphology def: "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" [CL:0000556, ISBN:0721601464] synonym: "abnormal megacaryocyte morphology" EXACT [] synonym: "abnormal megalocaryocyte morphology" EXACT [] synonym: "abnormal megalokaryocyte morphology" EXACT [] synonym: "megakaryocyte abnormalities" EXACT [] is_a: MP:0013660 ! abnormal bone marrow hematopoietic cell morphology [Term] id: MP:0002418 name: increased susceptibility to viral infection def: "greater likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus" [MGI:cwg] synonym: "decreased resistance to viral infection" EXACT [] is_a: MP:0002406 ! increased susceptibility to infection is_a: MP:0020185 ! abnormal susceptibility to viral infection [Term] id: MP:0002419 name: abnormal innate immunity def: "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" [ISBN:0-8153-1691-7] synonym: "innate immunity dysfunction" EXACT [] synonym: "natural immunity abnormalities" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0002420 name: abnormal adaptive immunity def: "anomaly in the function of the response of antigen-specific lymphocytes to antigen, including the development of immunological memory" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "acquired immune response dysfunction" EXACT [] synonym: "adaptive immunity dysfunction" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0002421 name: abnormal cell-mediated immunity def: "abnormal function of any adaptive immune response in which T cells play a main role" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "cell-mediated immunity dysfunction" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0002422 name: abnormal basophil morphology def: "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" [CL:0000767] synonym: "basophil abnormalities" BROAD [] is_a: MP:0002414 ! abnormal myeloblast morphology/development is_a: MP:0002441 ! abnormal granulocyte morphology [Term] id: MP:0002423 name: abnormal mast cell physiology def: "any functional anomaly of the granulated cells found in most tissues and which contain large amounts of histamine and heparin in granules" [MESH:A11.329.427] synonym: "abnormal mast cell function" EXACT [] synonym: "mast cell abnormalities" EXACT [] is_a: MP:0002462 ! abnormal granulocyte physiology [Term] id: MP:0002424 name: abnormal reticulocyte morphology def: "any structural anomaly of immature erythrocytes characterized by a meshlike pattern of threads and particles at the former site of the nucleus" [ISBN:978-0-323-05290-0] synonym: "abnormal immature erythrocyte morphology" EXACT [] synonym: "abnormal reticulocyte morphology/development" RELATED [] synonym: "reticulocyte abnormalities" BROAD [] is_a: MP:0013659 ! abnormal erythroid lineage cell morphology [Term] id: MP:0002425 name: abnormal susceptibility to autoimmune disorder def: "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" [MESH:C20.111] synonym: "abnormal autoimmune disorder susceptibility" EXACT [] synonym: "abnormal resistance to autoimmune disorder" EXACT [] synonym: "altered susceptibility to autoimmune disorder" EXACT [] synonym: "autoimmune disorders" EXACT [] is_a: MP:0001844 ! autoimmune response [Term] id: MP:0002426 name: obsolete blood abnormalities def: "OBSOLETE. structural anomalies in the cells, fluids, or proteins found in the blood" [MGI:cwg] is_obsolete: true [Term] id: MP:0002427 name: disproportionate dwarf def: "abnormally undersized with disproportionate body parts; usually with more significant shortening of the limbs in proportion to the trunk size" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] comment: In humans, dwarfism is defined as a condition in which the standing height of a person is below the third percentile. synonym: "disproportionate dwarfism" EXACT [] is_a: MP:0001265 ! decreased body size [Term] id: MP:0002428 name: abnormal semicircular canal morphology def: "any structural anomaly of the organ of balance composed of three long bony tubes of the labyrinth" [MESH:A09.246.631.663, MGI:cwg] subset: IMPC subset: Sanger_Terms is_a: MP:0002729 ! abnormal inner ear canal morphology [Term] id: MP:0002429 name: abnormal blood cell morphology/development alt_id: MP:0000178 alt_id: MP:0000205 alt_id: MP:0001576 alt_id: MP:0002545 def: "any structural anomaly of any of the cells found in the blood or hematopoietic organ" [MGI:cwg] synonym: "blood cell abnormalities" EXACT [] synonym: "blood cell defects" EXACT [] is_a: MP:0002396 ! abnormal hematopoietic system morphology/development [Term] id: MP:0002432 name: abnormal CD4-positive, alpha beta T cell morphology def: "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" [MESH:A11.118.637.555.567.569.200, MGI:cwg] comment: Generally, when immunologists write CD8 positive T cell, what they mean is CD8-positive, alpha-beta T cell (CL:0000625). Similarly, when immunologists write CD4 positive T cell, what they mean is CD4-positive, alpha-beta T cell (CL:0000624). T cells bearing the alpha-beta T cell receptor are the most common in the body, and are the most commonly studied, so much so, that in many published papers, the authors do not even bother to specify (or assume) they are studying alpha-beta T cells and thus omit saying so. synonym: "abnormal CD4+ T cell morphology" EXACT [] synonym: "abnormal CD4-positive T cell morphology" EXACT [] synonym: "abnormal single positive T cell morphology" BROAD [] synonym: "CD4+ T-cell abnormalities" EXACT [] is_a: MP:0002435 ! abnormal effector T cell morphology is_a: MP:0012762 ! abnormal alpha-beta T cell morphology [Term] id: MP:0002433 name: abnormal T-helper 1 cell morphology def: "any structural anomaly of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity" [CL:0000545, ISBN:0781735149] synonym: "abnormal helper T cell type 1 morphology" EXACT [] synonym: "abnormal helper T lymphocyte type 1" EXACT [] synonym: "abnormal helper T-cell type 1" EXACT [] synonym: "abnormal helper T-lymphocyte type 1" EXACT [] synonym: "abnormal T helper 1 morphology" EXACT [] synonym: "abnormal TH1 cell" EXACT [] synonym: "T helper 1 abnormalities" EXACT [] synonym: "TH1 abnormalities" EXACT [] synonym: "Th1 abnormalities" EXACT [] is_a: MP:0010183 ! abnormal CD4-positive helper T cell morphology [Term] id: MP:0002434 name: abnormal T-helper 2 cell morphology def: "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" [CL:0000546, ISBN:0781735149] synonym: "abnormal helper T cell type 2 morphology" EXACT [] synonym: "abnormal helper T lymphocyte type 2" EXACT [] synonym: "abnormal helper T-cell type 2" EXACT [] synonym: "abnormal helper T-lymphocyte type 2" EXACT [] synonym: "abnormal T helper 2 morphology" EXACT [] synonym: "abnormal TH2 cell" EXACT [] synonym: "T helper 2 abnormalities" EXACT [] synonym: "TH2 abnormalities" EXACT [] synonym: "Th2 abnormalities" EXACT [] is_a: MP:0010183 ! abnormal CD4-positive helper T cell morphology [Term] id: MP:0002435 name: abnormal effector T cell morphology def: "any structural anomaly of a differentiated T cell with ability to traffic to peripheral tissues and is capable of mounting a specific immune response" [CL:0000911] synonym: "abnormal mature T cell morphology" RELATED [] synonym: "abnormal single positive T cell" RELATED [] synonym: "abnormal single-positive T cell" RELATED [] synonym: "effector T cell abnormalities" EXACT [] synonym: "effector T-cell abnormalities" EXACT [] is_a: MP:0008037 ! abnormal T cell morphology [Term] id: MP:0002436 name: abnormal CD8-positive, alpha-beta cytotoxic T cell morphology def: "any structural anomaly of a CD8-positive, alpha-beta T cell capable of killing target cells in an antigen specific manner" [ISBN:0781735149] comment: Note that while T cells of this subset are loosely referred to 'cytotoxic T cells,' as many other T cell types, including CD4-positive, alpha-beta T cells and gamma-delta T cells exhibit cytotoxicity in vitro and in vivo. synonym: "abnormal CD8-positive, alpha-beta cytotoxic T lymphocyte morphology" EXACT [] synonym: "abnormal CD8-positive, alpha-beta cytotoxic T-cell morphology" EXACT [] synonym: "abnormal CD8-positive, alpha-beta cytotoxic T-lymphocyte morphology" EXACT [] synonym: "abnormal CTL morphology" BROAD [] synonym: "abnormal cytotoxic T cell morphology" BROAD [] synonym: "abnormal cytotoxic T lymphocyte morphology" BROAD [] synonym: "abnormal cytotoxic T-cell morphology" BROAD [] synonym: "abnormal cytotoxic T-lymphocyte morphology" BROAD [] synonym: "cytotoxic T cell abnormalities" BROAD [] synonym: "cytotoxic T-cell abnormalities" BROAD [] xref: CL:0000794 is_a: MP:0005010 ! abnormal CD8-positive, alpha beta T cell morphology [Term] id: MP:0002439 name: abnormal plasma cell morphology def: "any structural anomaly of a terminally differentiated, post-mitotic, short-lived cell of the B cell lineage devoted to producing large amounts of immunoglobulin" [CL:0000786, https://orcid.org/0000-0003-3691-0324, ISBN:0781735149] comment: Plasma cells are terminally differentiated B cells and no longer respond to antigens or helper T cells. In addition, they no longer express surface Ig or surface MHC class II molecules, and they secrete antibody at high rates. synonym: "abnormal plasmacyte morphology" EXACT [] synonym: "plasma cell abnormalities" EXACT [] is_a: MP:0004939 ! abnormal B cell morphology [Term] id: MP:0002440 name: abnormal memory B cell morphology def: "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" [CL:0000787, ISBN:0781735149] synonym: "abnormal memory B lymphocyte" EXACT [] synonym: "abnormal memory B-cell" EXACT [] synonym: "abnormal memory-B lymphocyte" EXACT [] synonym: "memory B cell abnormalities" EXACT [] synonym: "memory B-cell abnormalities" EXACT [] is_a: MP:0008171 ! abnormal mature B cell morphology [Term] id: MP:0002441 name: abnormal granulocyte morphology def: "any structural anomaly of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils" [MESH:A11.118.637.415, MGI:cwg] synonym: "granulocyte abnormalities" BROAD [] is_a: MP:0008250 ! abnormal myeloid leukocyte morphology is_a: MP:0013657 ! abnormal blood cell morphology [Term] id: MP:0002442 name: abnormal leukocyte physiology def: "any functional anomaly of any of the white blood cells (basophils, eosinophils, neutrophils, lymphocytes, or monocytes)" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal leucocyte physiology" EXACT [] synonym: "leucocyte dysfunction" EXACT [] synonym: "leukocyte dysfunction" EXACT [] is_a: MP:0001819 ! abnormal immune cell physiology is_a: MP:0002420 ! abnormal adaptive immunity is_a: MP:0002421 ! abnormal cell-mediated immunity is_a: MP:0012382 ! abnormal blood cell physiology [Term] id: MP:0002443 name: abnormal eosinophil differentiation def: "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" [CL:0000771] synonym: "abnormal eosinocyte differentiation" EXACT [] synonym: "abnormal eosinophil development" EXACT [] synonym: "abnormal eosinophilic leucocyte differentiation" EXACT [] synonym: "abnormal eosinophilic leukocyte differentiation" EXACT [] synonym: "abnormal polymorphonuclear leucocyte differentiation" EXACT [] synonym: "abnormal polymorphonuclear leukocyte differentiation" EXACT [] synonym: "eosinophil abnormalities" BROAD [] is_a: MP:0005061 ! abnormal eosinophil morphology is_a: MP:0008111 ! abnormal granulocyte differentiation [Term] id: MP:0002444 name: abnormal T cell physiology def: "any functional anomaly of lymphocytes that are responsible for cell-mediated immunity and immune system regulation" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal T cell function" EXACT [] synonym: "abnormal T lymphocyte function" EXACT [] synonym: "t lymphocyte dysfunction" NARROW [] synonym: "T-cell dysfunction" NARROW [] is_a: MP:0003945 ! abnormal lymphocyte physiology [Term] id: MP:0002445 name: abnormal mononuclear cell differentiation def: "atypical production of or inability to produce a leukocyte with a single non-segmented nucleus in the mature form" [CL:0000842] synonym: "abnormal mononuclear leucocyte differentiation" EXACT [] synonym: "abnormal mononuclear leukocyte differentiation" EXACT [] synonym: "mononuclear leucocyte development abnormalities" EXACT [] synonym: "mononuclear leukocyte development abnormalities" EXACT [] is_a: MP:0002414 ! abnormal myeloblast morphology/development is_a: MP:0005076 ! abnormal cell differentiation is_a: MP:0005460 ! abnormal leukopoiesis [Term] id: MP:0002446 name: abnormal macrophage morphology def: "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" [CL:0000235, https://orcid.org/0000-0003-3691-0324] synonym: "macrophage abnormalities" BROAD [] synonym: "mononuclear phagocyte abnormalities" BROAD [] is_a: MP:0008195 ! abnormal professional antigen presenting cell morphology is_a: MP:0008248 ! abnormal mononuclear phagocyte morphology [Term] id: MP:0002447 name: abnormal erythrocyte morphology alt_id: MP:0002124 def: "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" [ISBN:978-0-323-05290-0] synonym: "abnormal definitive erythrocyte" NARROW [] synonym: "abnormal red blood cell morphology" EXACT [] synonym: "abnormal red corpuscle morphology" EXACT [] synonym: "erythrocyte abnormalities" BROAD [] synonym: "red blood cell abnormalities" BROAD [] xref: MGI:2173584 is_a: MP:0013657 ! abnormal blood cell morphology is_a: MP:0013659 ! abnormal erythroid lineage cell morphology [Term] id: MP:0002450 name: abnormal lymph organ development def: "anomaly in the process of morphological maturation of the organs of the lymph system" [MGI:cwg] synonym: "lymph organ developmental abnormalities" EXACT [] is_a: MP:0002722 ! abnormal immune system organ morphology is_a: MP:0020981 ! abnormal immune system development [Term] id: MP:0002451 name: abnormal macrophage physiology def: "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" [CL:0000235, https://orcid.org/0000-0003-3691-0324] synonym: "macrophage dysfunction" EXACT [] is_a: MP:0002419 ! abnormal innate immunity is_a: MP:0002442 ! abnormal leukocyte physiology is_a: MP:0002452 ! abnormal professional antigen presenting cell physiology [Term] id: MP:0002452 name: abnormal professional antigen presenting cell physiology def: "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" [CL:0000145, https://orcid.org/0000-0003-3691-0324, ISBN:0781735149] synonym: "abnormal antigen presenting cell physiology" RELATED [] synonym: "antigen presenting cell dysfunction" EXACT [] is_a: MP:0001819 ! abnormal immune cell physiology is_a: MP:0002420 ! abnormal adaptive immunity is_a: MP:0002421 ! abnormal cell-mediated immunity [Term] id: MP:0002453 name: abnormal B lymphocyte antigen presentation def: "anomaly in the ability of B lymphocyte to process and/or present antigen" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "B cell antigen presentation abnormalities" EXACT [] synonym: "lymphocyte antigen presentation dysfunction" EXACT [] is_a: MP:0001835 ! abnormal antigen presentation is_a: MP:0002459 ! abnormal B cell physiology [Term] id: MP:0002454 name: abnormal macrophage antigen presentation def: "anomaly in the ability of macrophage phagocytic cells to process and present antigen to T lymphocytes" [ISBN:0-8153-1691-7] synonym: "macrophage antigen presentation dysfunction" EXACT [] is_a: MP:0001835 ! abnormal antigen presentation is_a: MP:0002451 ! abnormal macrophage physiology [Term] id: MP:0002455 name: abnormal dendritic cell antigen presentation def: "anomaly in the ability of dendritic cells to process and present antigen to T lymphocytes" [ISBN:0-8153-1691-7] synonym: "dendritic cell antigen presentation dysfunction" EXACT [] is_a: MP:0001835 ! abnormal antigen presentation is_a: MP:0002376 ! abnormal dendritic cell physiology [Term] id: MP:0002456 name: abnormal Langerhans cell antigen presentation def: "anomaly in the ability of phagocytic cells of the epidermis to display antigen for recognition by T lymphocytes" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "interdigitating reticular cell antigen presentation dysfunction" EXACT [] synonym: "Langerhans cell antigen presentation dysfunction" EXACT [] is_a: MP:0002455 ! abnormal dendritic cell antigen presentation is_a: MP:0005362 ! abnormal Langerhans cell physiology [Term] id: MP:0002458 name: abnormal B cell number def: "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" [https://orcid.org/0000-0003-4606-0597, ISBN:0803606559] synonym: "abnormal B lymphocyte number" EXACT [] synonym: "abnormal B-cell number" EXACT [] is_a: MP:0000717 ! abnormal lymphocyte cell number is_a: MP:0004939 ! abnormal B cell morphology [Term] id: MP:0002459 name: abnormal B cell physiology def: "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" [https://orcid.org/0000-0003-3691-0324, MGI:cwg] synonym: "B cell dysfunction" EXACT [] synonym: "B lymphocyte dysfunction" EXACT [] synonym: "B lymphocyte functional anomalies" EXACT [] synonym: "B-cell dysfunction" EXACT [] is_a: MP:0002452 ! abnormal professional antigen presenting cell physiology is_a: MP:0003945 ! abnormal lymphocyte physiology [Term] id: MP:0002460 name: decreased immunoglobulin level alt_id: MP:0001814 def: "less than normal immunoglobulin level" [MGI:cwg] synonym: "decreased immunoglobulin concentration" EXACT [] synonym: "decreased serum level of immunoglobulin" NARROW [] synonym: "reduced immunoglobulin concentration" EXACT [] is_a: MP:0002490 ! abnormal immunoglobulin level [Term] id: MP:0002461 name: increased immunoglobulin level alt_id: MP:0001811 def: "greater than normal immunoglobulin level" [MGI:cwg] synonym: "increased immunoglobulin concentration" EXACT [] synonym: "increased serum level of immunoglobulin" NARROW [] is_a: MP:0002490 ! abnormal immunoglobulin level [Term] id: MP:0002462 name: abnormal granulocyte physiology def: "any functional anomaly of neutrophils, eosinophils, or basophils" [MGI:cwg] synonym: "granulocyte dysfunction" EXACT [] is_a: MP:0002442 ! abnormal leukocyte physiology [Term] id: MP:0002463 name: abnormal neutrophil physiology def: "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" [ISBN:0721601464] synonym: "abnormal neutrocyte physiology" EXACT [] synonym: "abnormal neutrophil leucocyte physiology" EXACT [] synonym: "abnormal neutrophil leukocyte physiology" EXACT [] synonym: "abnormal neutrophilic leucocyte physiology" EXACT [] synonym: "abnormal neutrophilic leukocyte physiology" EXACT [] synonym: "abnormal PMN physiology" BROAD [] synonym: "abnormal polymorphonuclear leucocyte physiology" BROAD [] synonym: "abnormal polymorphonuclear leukocyte physiology" BROAD [] synonym: "abnormal polymorphonuclear neutrophil physiology" BROAD [] synonym: "abnormal polynuclear neutrophilic leucocyte physiology" BROAD [] synonym: "abnormal polynuclear neutrophilic leukocyte physiology" BROAD [] synonym: "neutrophil dysfunction" EXACT [] is_a: MP:0002419 ! abnormal innate immunity is_a: MP:0002462 ! abnormal granulocyte physiology [Term] id: MP:0002464 name: abnormal basophil physiology def: "any functional anomaly of the leukocyte that contains granules that stain with basic dyes" [ISBN:0-683-40008-8, MGI:cwg] synonym: "basophil dysfunction" EXACT [] is_a: MP:0002462 ! abnormal granulocyte physiology [Term] id: MP:0002465 name: abnormal eosinophil physiology def: "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" [CL:0000771, ISBN:0721601464] synonym: "abnormal eosinocyte physiology" EXACT [] synonym: "abnormal eosinophilic leucocyte physiology" EXACT [] synonym: "abnormal eosinophilic leukocyte physiology" EXACT [] synonym: "abnormal polymorphonuclear leucocyte physiology" BROAD [] synonym: "abnormal polymorphonuclear leukocyte physiology" BROAD [] synonym: "eosinophil dysfunction" EXACT [] is_a: MP:0002462 ! abnormal granulocyte physiology [Term] id: MP:0002467 name: impaired neutrophil phagocytosis def: "reduced ability of neutrophils to internalize particulate matter" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0002463 ! abnormal neutrophil physiology is_a: MP:0008546 ! abnormal vesicle-mediated transport [Term] id: MP:0002468 name: obsolete abnormal complement physiology def: "OBSOLETE. abnormal function of the set of plasma proteins that act together to attack extracellular pathogens" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "complement dysfunction" EXACT [] is_obsolete: true consider: MP:0002471 [Term] id: MP:0002469 name: obsolete abnormal C1 physiology def: "OBSOLETE. abnormal function of the complement protein, C1" [MGI:cwg] synonym: "C1 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002470 name: obsolete abnormal C2 physiology def: "OBSOLETE. abnormal function of the complement protein, C2" [MGI:cwg] synonym: "C2 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002471 name: abnormal complement pathway def: "impaired ability of the complement proteins to act sequentially to directly kill microbes, dispose of immune complexes, and regulate other immune processes" [GO:0006956] synonym: "abnormal complement activation" RELATED [] synonym: "abnormal complement cascade" RELATED [] synonym: "abnormal complement response" RELATED [] synonym: "complement cascade dysfunction" EXACT [] xref: GO:0006956 is_a: MP:0001800 ! abnormal humoral immune response is_a: MP:0002419 ! abnormal innate immunity [Term] id: MP:0002472 name: impaired complement alternative pathway def: "abnormal function of the plasma protein cascade triggered by direct contact with pathogen surfaces" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0002471 ! abnormal complement pathway [Term] id: MP:0002473 name: impaired complement classical pathway def: "abnormal function of the plasma protein cascade triggered by antigen:antibody complexes" [ISBN:0-8153-1691-7, MGI:cwg] is_a: MP:0002471 ! abnormal complement pathway [Term] id: MP:0002474 name: obsolete abnormal C3 physiology def: "OBSOLETE. abnormal function of the complement protein, C3" [MGI:cwg] synonym: "C3 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002475 name: obsolete abnormal C4 physiology def: "OBSOLETE. abnormal function of the complement protein, C4" [MGI:cwg] synonym: "C4 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002476 name: obsolete abnormal C5 physiology def: "OBSOLETE. abnormal function of the complement protein, C5" [MGI:cwg] synonym: "C5 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002477 name: obsolete abnormal C6 physiology def: "OBSOLETE. abnormal function of the complement protein, C6" [MGI:cwg] synonym: "C6 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002478 name: obsolete abnormal C7 physiology def: "OBSOLETE. abnormal function of the complement protein, C7" [MGI:cwg] synonym: "C7 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002479 name: obsolete abnormal C8 physiology def: "OBSOLETE. abnormal function of the complement protein, C8" [MGI:cwg] synonym: "C8 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002480 name: obsolete abnormal C9 physiology def: "OBSOLETE. abnormal function of the complement protein, C9" [MGI:cwg] synonym: "C9 dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002481 name: obsolete abnormal factor B physiology def: "OBSOLETE. abnormal function of the complement protein, factor B" [MGI:cwg] synonym: "Bf abnormalities" EXACT [] synonym: "factor B dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002482 name: obsolete abnormal factor D physiology def: "OBSOLETE. abnormal function of the complement protein, factor D" [MGI:cwg] synonym: "factor D dysfunction" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002483 name: obsolete abnormal acute phase protein physiology def: "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" [ISBN:0-8153-1691-7] synonym: "acute phase protein dysfunction" EXACT [] is_obsolete: true consider: MP:0010211 [Term] id: MP:0002484 name: obsolete abnormal C-reactive protein physiology def: "OBSOLETE. anomaly in the function of this plasma protein that normally circulates in increased amounts during inflammation or after tissue damage" [MESH:D12.776.034.145] synonym: "C-reactive protein dysfunction" EXACT [] is_obsolete: true consider: MP:0010212 [Term] id: MP:0002485 name: obsolete abnormal mannose-binding protein physiology def: "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" [ISBN:0-8153-1691-7] synonym: "mannose-binding protein dysfunction" EXACT [] is_obsolete: true consider: MP:0010211 [Term] id: MP:0002486 name: obsolete abnormal serum amyloid protein physiology def: "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" [MESH:D12.776.049.790] synonym: "abnormal SAA protein physiology" RELATED [] synonym: "abnormal Serum Amyloid A Protein physiology" EXACT [] synonym: "serum amyloid protein dysfunction" EXACT [] is_obsolete: true consider: MP:0010214 [Term] id: MP:0002487 name: obsolete abnormal fibrinogen physiology def: "OBSOLETE. an anomaly in the function of this coaguable protein in the blood plasma" [ISBN:0-683-40008-8] synonym: "fibrinogen dysfunction" EXACT [] is_obsolete: true consider: MP:0010213 [Term] id: MP:0002488 name: obsolete abnormal phagocyte physiology def: "OBSOLETE. anomaly in the ability of these cells to ingest and internalize particulate matter" [MGI:cwg] synonym: "abnormal phagocytic cell physiology" EXACT [] synonym: "phagocytic cell dysfunction" EXACT [] is_obsolete: true [Term] id: MP:0002490 name: abnormal immunoglobulin level alt_id: MP:0001810 def: "deviation from the normal levels of glycoproteins present in the blood and other tissue, often functioning as antibodies" [ISBN:0-683-40008-8, MGI:cwg] subset: Europhenome_Terms subset: IMPC synonym: "abnormal immunoglobulin concentration" EXACT [] synonym: "abnormal serum immunoglobulin concentration" NARROW [] synonym: "abnormal serum level of immunoglobulin" NARROW [] is_a: MP:0001800 ! abnormal humoral immune response is_a: MP:0002459 ! abnormal B cell physiology is_a: MP:0002723 ! abnormal immune serum protein physiology [Term] id: MP:0002491 name: decreased IgD level def: "less than normal immunoglobulin class D level" [MGI:cwg] synonym: "reduced IgD level" EXACT [] is_a: MP:0002460 ! decreased immunoglobulin level is_a: MP:0020172 ! abnormal IgD level [Term] id: MP:0002492 name: decreased IgE level def: "less than normal immunoglobulin class E level" [MGI:cwg] subset: Europhenome_Terms subset: IMPC synonym: "reduced IgE level" EXACT [] is_a: MP:0002460 ! decreased immunoglobulin level is_a: MP:0020173 ! abnormal IgE level [Term] id: MP:0002493 name: increased IgG level alt_id: MP:0001812 def: "greater than normal immunoglobulin class G level" [MGI:cwg] synonym: "hypergammaglobulinemia" EXACT [] synonym: "increased serum level of immunoglobulin G" NARROW [] is_a: MP:0002461 ! increased immunoglobulin level is_a: MP:0020174 ! abnormal IgG level [Term] id: MP:0002494 name: increased IgM level alt_id: MP:0001813 def: "greater than normal immunoglobulin class M level" [MGI:cwg] subset: Europhenome_Terms subset: IMPC synonym: "increased serum level of immunoglobulin M" NARROW [] is_a: MP:0002461 ! increased immunoglobulin level is_a: MP:0020180 ! abnormal IgM level [Term] id: MP:0002495 name: increased IgA level def: "greater than normal immunoglobulin class A level" [MGI:cwg] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms is_a: MP:0002461 ! increased immunoglobulin level is_a: MP:0020171 ! abnormal IgA level [Term] id: MP:0002496 name: increased IgD level def: "greater than normal immunoglobulin class D level" [MGI:cwg] is_a: MP:0002461 ! increased immunoglobulin level is_a: MP:0020172 ! abnormal IgD level [Term] id: MP:0002497 name: increased IgE level def: "greater than normal immunoglobulin class E level" [MGI:cwg] subset: Europhenome_Terms subset: IMPC is_a: MP:0002461 ! increased immunoglobulin level is_a: MP:0020173 ! abnormal IgE level [Term] id: MP:0002498 name: abnormal acute inflammation def: "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" [ISBN:0-397-51047-0, ISBN:0-8153-1691-7] synonym: "acute inflammation" EXACT [] synonym: "leucocyte infiltration" EXACT [] synonym: "leukocyte infiltration" EXACT [] is_a: MP:0001845 ! abnormal inflammatory response [Term] id: MP:0002499 name: chronic inflammation def: "persistent inflammatory response, often caused by persistent infection or during an autoimmune response" [ISBN:0-8153-1691-7] comment: Characterized by presence of lymphocytes, plasma cells, and macrophages. is_a: MP:0001845 ! abnormal inflammatory response [Term] id: MP:0002500 name: granulomatous inflammation def: "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" [ISBN:0-397-51047-0, ISBN:0-8153-1691-7] is_a: MP:0002499 ! chronic inflammation [Term] id: MP:0002501 name: obsolete abnormal inflammatory mediator physiology def: "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" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "inflammatory mediators" EXACT [] is_obsolete: true [Term] id: MP:0002502 name: obsolete abnormal vasoactive mediator physiology def: "OBSOLETE. functional anomaly of any of the endogenous compounds that act on the vasculature" [MGI:cwg] is_obsolete: true [Term] id: MP:0002503 name: abnormal histamine physiology def: "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" [https://orcid.org/0009-0005-7755-8314] is_a: MP:0001764 ! abnormal homeostasis [Term] id: MP:0002504 name: obsolete abnormal serotonin physiology def: "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" [ISBN:0-683-40008-8] synonym: "abnormal 5-HT physiology" EXACT [] is_obsolete: true consider: MP:0005322 [Term] id: MP:0002505 name: obsolete abnormal bradykinin physiology def: "OBSOLETE. functional anomaly of this potent, short-lived vasoactive peptide that causes arteriolar dilation and increased capillary permeability" [ISBN:0-397-51047-0] is_obsolete: true consider: MP:0009812 [Term] id: MP:0002506 name: obsolete abnormal anaphylotoxin physiology def: "OBSOLETE. functional anomaly of any of the small fragments of complement proteins released by cleavage during complement activation, they are chemotactic and vasoactive" [ISBN:0-8153-1691-7] is_obsolete: true [Term] id: MP:0002507 name: obsolete abnormal C4a physiology def: "OBSOLETE. functional anomaly of complement fragment C4a, which is normally involved in increasing vascular permeability and enhancing smooth muscle contraction" [ISBN:0-397-51047-0, MGI:cwg] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002508 name: obsolete abnormal complement 5a physiology def: "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" [ISBN:0-397-51047-0, MGI:cwg] synonym: "abnormal C5a physiology" EXACT [] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002509 name: obsolete abnormal C3a physiology def: "OBSOLETE. functional anomaly of complement fragment C3a, which is normally involved in increasing vascular permeability and enhancing smooth muscle contraction" [ISBN:0-397-51047-0, MGI:cwg] is_obsolete: true consider: MP:0010215 [Term] id: MP:0002510 name: obsolete abnormal leukotriene physiology def: "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" [ISBN:0-397-51047-0] is_obsolete: true consider: MP:0009813 [Term] id: MP:0002511 name: obsolete abnormal leukotriene C4 physiology def: "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" [http://cancerweb.ncl.ac.uk] synonym: "abnormal LTC4 physiology" EXACT [] is_obsolete: true consider: MP:0009813 [Term] id: MP:0002512 name: obsolete abnormal leukotriene D4 physiology def: "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" [http://cancerweb.ncl.ac.uk] synonym: "abnormal LTD4 physiology" EXACT [] is_obsolete: true consider: MP:0009813 [Term] id: MP:0002513 name: obsolete abnormal leukotriene E4 physiology def: "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" [http://cancerweb.ncl.ac.uk] synonym: "abnormal LTE4 physiology" EXACT [] is_obsolete: true consider: MP:0009813 [Term] id: MP:0002514 name: obsolete abnormal prostaglandin physiology def: "OBSOLETE. functional anomaly of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation" [ISBN:0-683-40008-8] is_obsolete: true consider: MP:0009811 [Term] id: MP:0002515 name: obsolete PGD2 def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "prostaglandin D2" EXACT [] is_obsolete: true consider: MP:0009811 [Term] id: MP:0002516 name: obsolete abnormal PGE2 physiology def: "OBSOLETE. functional anomaly of this member of the prostaglandin family, which normally has vasodilatory effects, increasing vascular permeability" [ISBN:0-397-51047-0] synonym: "abnormal prostaglandin E2 physiology" EXACT [] is_obsolete: true consider: MP:0009811 [Term] id: MP:0002517 name: obsolete abnormal PGI2 physiology def: "OBSOLETE. functional anomaly of this member of the prostaglandin family that normally has vasodilatory effects, increasing vascular permeability" [ISBN:0-397-51047-0] synonym: "abnormal prostacyclin physiology" EXACT [] synonym: "abnormal prostaglandin I2 physiology" EXACT [] is_obsolete: true consider: MP:0009811 [Term] id: MP:0002518 name: obsolete abnormal PGF2alpha physiology def: "OBSOLETE. functional anomaly of this prostaglandin that normally has vasocontractile, oxytocic, luteolytic, and abortifacient activities" [MGI:cwg] synonym: "abnormal prostaglandin F2alpha physiology" EXACT [] is_obsolete: true consider: MP:0009811 [Term] id: MP:0002519 name: obsolete abnormal thromboxane physiology def: "OBSOLETE. functional anomaly of any of the members of a family of mediators with vasoactive effects" [MGI:cwg] synonym: "abnormal TxB2 physiology" EXACT [] is_obsolete: true consider: MP:0009818 [Term] id: MP:0002520 name: obsolete abnormal TxA2 physiology def: "OBSOLETE. functional anomaly of this potent vasoconstrictor that also mediates platelet aggregation" [ISBN:0-397-51047-0] synonym: "abnormal thromboxane A2 physiology" EXACT [] is_obsolete: true consider: MP:0009818 [Term] id: MP:0002521 name: obsolete abnormal platelet activating factor physiology def: "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" [ISBN:0-397-51047-0] synonym: "abnormal PAF physiology" EXACT [] is_obsolete: true [Term] id: MP:0002522 name: obsolete abnormal chemotactic factor physiology def: "OBSOLETE. functional anomaly of any of a class of pro-inflammatory proteins that attract and activate leukocytes" [ISBN:0-397-51047-0, MGI:cwg] is_obsolete: true [Term] id: MP:0002523 name: obsolete abnormal chemotactic complement factor physiology def: "OBSOLETE. functional anomaly of any of a subset of complement fragments that are involved in recruitment of leukocytes to the site of injury" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "chemotactic complement factors" EXACT [] is_obsolete: true [Term] id: MP:0002524 name: obsolete lipoxygenase products def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002525 name: obsolete abnormal leukotriene B4 physiology def: "OBSOLETE. functional anomaly of this product of inflammatory cell activation that is a potent chemoattractant for macrophages and neutrophils" [ISBN:0-397-51047-0, MGI:cwg] synonym: "abnormal LTB4 physiology" EXACT [] is_obsolete: true consider: MP:0009813 [Term] id: MP:0002526 name: obsolete abnormal chemokine physiology def: "OBSOLETE. functional anomaly of any of the class of pro-inflammatory cytokines that attract and activate leukocytes" [MESH:D12.644.276.374.200, MGI:cwg] is_obsolete: true consider: MP:0008721 consider: MP:0008722 consider: MP:0010209 [Term] id: MP:0002527 name: obsolete abnormal interleukin-8 physiology def: "OBSOLETE. functional anomaly of this protein secreted by macrophages and is chemotactic for neutrophils and T cells" [ISBN:0-8153-1691-7] synonym: "abnormal IL-8 physiology" EXACT [] is_obsolete: true [Term] id: MP:0002528 name: obsolete abnormal interleukin-1 physiology def: "OBSOLETE. functional anomaly of this soluble factor produced by macrophages/monocytes that activates vascular endothelium and lymphocytes" [ISBN:0-8153-1691-7] comment: This term is obsolete. Instead, use the terms abnormal circulating interleukin-1 level (MP:0008589) and its children or abnormal interleukin-1 secretion (MP:0008650) and its children. synonym: "abnormal IL-1 physiology" EXACT [] is_obsolete: true consider: MP:0008589 consider: MP:0008650 [Term] id: MP:0002529 name: obsolete abnormal interleukin physiology def: "OBSOLETE. functional anomaly of any of the cytokines produced by leukocytes" [ISBN:0-8153-1691-7] synonym: "abnormal lymphokines physiology" EXACT [] is_obsolete: true consider: MP:0008568 consider: MP:0008588 [Term] id: MP:0002530 name: obsolete abnormal tumor necrosis factor physiology def: "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" [ISBN:0-8153-1691-7] comment: This term is obsolete. Instead, use the terms abnormal tumor necrosis factor level (MP:0008752) and its children or abnormal tumor necrosis factor secretion (MP:0008556) and its children. synonym: "abnormal cachectin physiology" EXACT [] synonym: "abnormal TNF physiology" EXACT [] synonym: "abnormal TNFA physiology" EXACT [] synonym: "abnormal tumor necrosis factor alpha physiology" EXACT [] is_obsolete: true consider: MP:0008556 consider: MP:0008752 [Term] id: MP:0002531 name: abnormal type I hypersensitivity reaction def: "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" [ISBN:0-397-51047-0] comment: Examples: hay fever, asthma, and anaphylaxis. synonym: "anaphylactic shock" EXACT [] synonym: "anaphylaxis" EXACT [] synonym: "immediate type hypersensitivity" EXACT [] is_a: MP:0002148 ! abnormal hypersensitivity reaction is_a: MP:0002420 ! abnormal adaptive immunity is_a: MP:0002498 ! abnormal acute inflammation [Term] id: MP:0002532 name: abnormal type II hypersensitivity reaction def: "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" [ISBN:0-397-51047-0] comment: Examples: autoimmune diseases: autoimmune hemolytic anemias, antibody-dependent cellular cytotoxicity (ADCC), Goodpasture disease, myasthenia gravis, Graves disease, pemphigous, and pemphigoid. synonym: "antibody-mediated cellular toxicity" EXACT [] synonym: "cytotoxic type hypersensitivity" EXACT [] is_a: MP:0002148 ! abnormal hypersensitivity reaction is_a: MP:0002420 ! abnormal adaptive immunity is_a: MP:0002498 ! abnormal acute inflammation [Term] id: MP:0002533 name: abnormal type III hypersensitivity reaction def: "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" [ISBN:0-397-51047-0] comment: Examples: Autoimmune diseases: systemic lupus erythmatosus (SLE), rheumatoid arthritis, sjogren syndrome, scleroderma and glomerulonephritis. synonym: "immune complex mediated hypersensitivity" EXACT [] is_a: MP:0002148 ! abnormal hypersensitivity reaction is_a: MP:0002420 ! abnormal adaptive immunity is_a: MP:0002498 ! abnormal acute inflammation [Term] id: MP:0002534 name: abnormal type IV hypersensitivity reaction def: "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" [ISBN:0-397-51047-0] comment: Examples: granulomatous diseases: tuberculosis, sarcoidosis. contact dermatitis: elicited by poison ivy, detergents, clothing, etc. synonym: "cell-mediated hypersensitivity" EXACT [] synonym: "contact hypersensitivity" EXACT [] synonym: "delayed type hypersensitivity" EXACT [] is_a: MP:0002148 ! abnormal hypersensitivity reaction is_a: MP:0002420 ! abnormal adaptive immunity is_a: MP:0002421 ! abnormal cell-mediated immunity is_a: MP:0002498 ! abnormal acute inflammation [Term] id: MP:0002535 name: obsolete combined T cell/ B cell deficiency def: "OBSOLETE. Use cell-mediated immunity instead. defective or absent host defense involving both B and T cells" [MGI:cwg] synonym: "combined T-cell/B-cell deficiency" EXACT [] is_obsolete: true consider: MP:0002421 [Term] id: MP:0002536 name: obsolete severe combined immunodeficiency disease def: "OBSOLETE. rare congenital disorder characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels" [] comment: This is a disease term. synonym: "SCID" EXACT [] is_obsolete: true [Term] id: MP:0002538 name: obsolete Di George syndrome def: "OBSOLETE. congenital syndrome with absence of thymus and parathyroids, causing impaired cellular immunity; immunoglobulin levels are normal" [] comment: this is a disease term, not a phenotype term is_obsolete: true [Term] id: MP:0002539 name: obsolete B cell deficiency def: "OBSOLETE. defective or absent host defense involving B cells" [ISBN:0-8153-1691-7, MGI:cwg] synonym: "B-cell deficiency" EXACT [] synonym: "deficiency of antibody immunity" EXACT [] is_obsolete: true consider: MP:0008071 [Term] id: MP:0002540 name: obsolete congenital X-linked infantile hypogammaglobulinemia def: "OBSOLETE. an immunologic deficiency state characterized by very low level of generally all classes of gamma-immunoglobulins" [MGI:cwg] is_obsolete: true [Term] id: MP:0002541 name: obsolete selective IgA deficiency def: "OBSOLETE. an immunologic deficiency state characterized by very low levels of the immunoglobulin class A" [MGI:cwg] is_obsolete: true consider: MP:0001807 [Term] id: MP:0002543 name: brachyphalangia def: "abnormally short phalanges" [ISBN:0-683-40008-8] synonym: "short phalanges" EXACT [] is_a: MP:0004686 ! decreased length of long bones is_a: MP:0005306 ! abnormal phalanx morphology [Term] id: MP:0002544 name: brachydactyly def: "abnormally short digits" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "short digits" EXACT [] synonym: "short fingers" NARROW [] synonym: "short toes" NARROW [] is_a: MP:0002110 ! abnormal digit morphology [Term] id: MP:0002546 name: mydriasis alt_id: MP:0001321 alt_id: MP:0002860 def: "increased diameter of one or both central circular aperture of the iris through which light rays enter the eye" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC_Prenatal subset: Sanger_Terms synonym: "dilated pupil" EXACT [] synonym: "dilated pupils" EXACT [] synonym: "enlarged pupil" EXACT [] synonym: "enlarged pupils" EXACT [] synonym: "increased pupil size" EXACT [] synonym: "large pupil" EXACT [] synonym: "large pupils" EXACT [] synonym: "pupil dilation" EXACT [] is_a: MP:0001317 ! abnormal pupil morphology [Term] id: MP:0002551 name: abnormal blood coagulation alt_id: MP:0000210 alt_id: MP:0001582 def: "altered ability or inability of the blood to clot" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal clotting" EXACT [] synonym: "coagulopathy" RELATED [] synonym: "haematology: abnormal blood coagulation" EXACT [] synonym: "hematology: abnormal blood coagulation" EXACT [] xref: MGI:2173585 is_a: MP:0009676 ! abnormal hemostasis [Term] id: MP:0002552 name: obsolete abnormal response to addictive substance def: "OBSOLETE. aberrant behavioral or physiological reaction to an addictive substance" [https://orcid.org/0000-0003-3691-0324] is_obsolete: true consider: MP:0009748 [Term] id: MP:0002553 name: preference for addictive substance def: "strong predilection for an addictive substance" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0009745 ! abnormal behavioral response to xenobiotic [Term] id: MP:0002554 name: aversion to addictive substance def: "purposeful avoidance of an addictive substance due to dislike" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0009745 ! abnormal behavioral response to xenobiotic [Term] id: MP:0002555 name: addiction def: "strong dependence on an addictive compound such as alcohol or narcotics that results in uncontrollable cravings for such compounds" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002553 ! preference for addictive substance [Term] id: MP:0002556 name: abnormal cocaine consumption alt_id: MP:0002569 def: "aberrant behavioral-related or physiological-related intake of cocaine into the body" [https://orcid.org/0000-0003-3691-0324] synonym: "cocaine consumption" EXACT [] is_a: MP:0009745 ! abnormal behavioral response to xenobiotic [Term] id: MP:0002557 name: abnormal social/conspecific interaction behavior alt_id: MP:0001351 def: "deviation of the normal behavior of animals towards each other" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC synonym: "abnormal social behavior" EXACT [] synonym: "abnormal social behaviour" EXACT [] synonym: "abnormal socialization" EXACT [] synonym: "neurological/behavioral: social/conspecific interaction anomalies" EXACT [] synonym: "neurological/behavioural: social/conspecific interaction anomalies" EXACT [] is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0002558 name: obsolete abnormal circadian period def: "any change in the cycle length expressed when exposed to constant conditions without temporal cues" [MGI:CFG] comment: 'has part' some \n (duration\n and ('inheres in' some 'circadian rhythm')\n and ('has modifier' some abnormal)) is_obsolete: true [Term] id: MP:0002559 name: obsolete abnormal circadian persistence def: "anomaly in the ability for an animal to retain a circadian rhythm when time cues are removed" [MGI:CFG] comment: 'has part' some \n (persistence\n and ('inheres in' some 'circadian rhythm')\n and ('has modifier' some abnormal)) is_obsolete: true [Term] id: MP:0002560 name: obsolete arrhythmic circadian persistence def: "loss of any rhythmic pattern upon removal of time cues" [MGI:CFG] comment: 'has part' some \n (arrhythmic\n and ('inheres in' some 'circadian rhythm')\n and ('has modifier' some abnormal)) is_obsolete: true [Term] id: MP:0002561 name: obsolete abnormal circadian phase def: "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)" [MGI:CFG] comment: 'has part' some \n (phase\n and ('inheres in' some 'circadian rhythm')\n and ('has modifier' some abnormal)) is_obsolete: true [Term] id: MP:0002562 name: obsolete prolonged circadian period def: "increase in the cycle length expressed when exposed to constant conditions without temporal cues" [MGI:CFG] comment: 'has part' some \n ('increased duration'\n and ('inheres in' some 'circadian rhythm')\n and ('has modifier' some abnormal)) is_obsolete: true [Term] id: MP:0002563 name: obsolete shortened circadian period def: "decrease in the cycle length expressed when exposed to constant conditions without temporal cues" [MGI:CFG] comment: 'has part' some \n ('decreased duration'\n and ('inheres in' some 'circadian rhythm')\n and ('has modifier' some abnormal)) is_obsolete: true [Term] id: MP:0002564 name: obsolete advanced circadian phase def: "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)" [MGI:CFG] comment: 'has part' some \n ('advanced phase'\n and ('inheres in' some 'circadian rhythm')\n and ('has modifier' some abnormal)) synonym: "decreased circadian phase delay" EXACT [] is_obsolete: true [Term] id: MP:0002565 name: obsolete delayed circadian phase def: "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)" [MGI:CFG] comment: 'has part' some \n ('delayed phase'\n and ('inheres in' some 'circadian rhythm')\n and ('has modifier' some abnormal)) synonym: "increased circadian phase delay" EXACT [] is_obsolete: true [Term] id: MP:0002566 name: abnormal sexual interaction alt_id: MP:0001369 alt_id: MP:0001370 alt_id: MP:0001374 def: "altered initiation, failure of initiation or incomplete mating behavior" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal breeding" EXACT [] synonym: "abnormal breeding/mating" EXACT [] synonym: "abnormal mating" EXACT [] synonym: "abnormal mating behavior" RELATED [] synonym: "abnormal mating behaviour" RELATED [] is_a: MP:0002557 ! abnormal social/conspecific interaction behavior [Term] id: MP:0002567 name: obsolete abnormal odor preference def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002568 name: obsolete addiction/drug abuse def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "neurological/behavioral: addiction/drug abuse" EXACT [] is_obsolete: true [Term] id: MP:0002570 name: alcohol aversion def: "purposeful avoidance of alcohol due to dislike" [https://orcid.org/0000-0003-3691-0324] synonym: "ethanol aversion" EXACT [] is_a: MP:0001423 ! abnormal liquid preference is_a: MP:0001425 ! abnormal alcohol consumption is_a: MP:0002554 ! aversion to addictive substance [Term] id: MP:0002571 name: senility def: "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" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002063 ! abnormal learning/memory/conditioning [Term] id: MP:0002572 name: abnormal emotion/affect behavior def: "altered response in tests for emotional related behaviors" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal emotion/affect behaviour" EXACT [] synonym: "neurological/behavioral: emotion/affect abnormalities" EXACT [] synonym: "neurological/behavioural: emotion/affect abnormalities" EXACT [] is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0002573 name: behavioral despair def: "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" [PMID:11875023] synonym: "behavioural despair" EXACT [] is_a: MP:0014414 ! increased depression-related behavior [Term] id: MP:0002574 name: increased vertical activity def: "greater than average time spent jumping or rearing" [MGI:cwg] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "increased rearing" EXACT [] synonym: "increased reconnoitering behavior" EXACT [] synonym: "increased reconnoitering behaviour" EXACT [] is_a: MP:0001399 ! hyperactivity is_a: MP:0020167 ! abnormal vertical activity [Term] id: MP:0002575 name: increased circulating ketone body level def: "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" [ISBN:0-683-40008-8] comment: Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in equilibrium with acetoacetate. synonym: "elevated circulating ketone body level" EXACT [] synonym: "elevated plasma ketone body level" NARROW [] synonym: "elevated serum ketone body level" NARROW [] synonym: "hyperketonaemia" EXACT [] synonym: "hyperketonemia" EXACT [] synonym: "hyperketosis" EXACT [] synonym: "hyperketotic" EXACT [] is_a: MP:0003457 ! abnormal circulating ketone body level is_a: MP:0030970 ! ketosis [Term] id: MP:0002576 name: abnormal enamel morphology def: "any structural anomaly of the hard outer coating of the exposed portion of the tooth" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "enamel dysplasia" EXACT [] is_a: MP:0003930 ! abnormal tooth hard tissue morphology [Term] id: MP:0002577 name: reduced enamel thickness def: "thin hard coating of the exposed portion of the tooth" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002576 ! abnormal enamel morphology [Term] id: MP:0002578 name: impaired ability to fire action potentials def: "anomaly resulting in reduced changes in membrane potentials occurring in nerve or other excitable tissue when excitation occurs" [https://orcid.org/0000-0003-3691-0324, J:51377] is_a: MP:0005402 ! abnormal action potential [Term] id: MP:0002579 name: disorganized secondary lens fibers def: "deformation or misalignment of the elongated cells that form the crystalline lens" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "disorganised secondary lens fibres" EXACT [] is_a: MP:0002840 ! abnormal lens fiber morphology [Term] id: MP:0002580 name: duodenal lesions def: "focal pathological changes characterized by alteration in the size, shape and organization of the cellular components of the duodenum epithelium tissue" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0003271 ! abnormal duodenum morphology [Term] id: MP:0002581 name: abnormal ileum morphology def: "any structural anomaly of the portion of the small intestine that extends from the jejunum to the colon" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "ileum dysplasia" EXACT [] is_a: MP:0000496 ! abnormal small intestine morphology [Term] id: MP:0002582 name: disorganized extraembryonic tissue def: "a lack of the regular arrangement of the membranes involved with the embryo's protection and nutrition" [https://orcid.org/0000-0003-3691-0324, J:40596] synonym: "disorganised extraembryonic tissue" EXACT [] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology [Term] id: MP:0002583 name: absent extraembryonic ectoderm def: "absence of the endoderm layer of the extraembryonic tissue" [https://orcid.org/0000-0003-3691-0324] synonym: "absence of extraembryonic ectoderm" EXACT [] is_a: MP:0010736 ! abnormal extraembryonic ectoderm morphology [Term] id: MP:0002584 name: small ectoplacental cone def: "reduced size of the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta" [MGI:cwg] synonym: "small epamniotic cone" EXACT [] is_a: MP:0005032 ! abnormal ectoplacental cone morphology [Term] id: MP:0002585 name: obsolete abnormal response/metabolism to xenobiotics def: "OBSOLETE. altered ability or inability to metabolize or respond to foreign substances" [https://orcid.org/0000-0003-3691-0324, MGI:cwg] comment: This term has been rendered obsolete. Please use instead the terms abnormal pharmacogenetics of xenobiotics (MP:0008875) or abnormal response to xenobiotics (MP:0008872). synonym: "abnormal metabolism of xenobiotics" EXACT [] is_obsolete: true consider: MP:0008872 consider: MP:0008875 [Term] id: MP:0002586 name: abnormal platelet volume def: "anomaly in the content of platelet cells over normal" [MGI:cml] is_a: MP:0004720 ! abnormal platelet morphology [Term] id: MP:0002587 name: obsolete heart/cardiovascular system: characteristics def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002588 name: obsolete blood cell characteristics def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002589 name: obsolete mean corpuscular volume traits def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002590 name: increased mean corpuscular volume def: "greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [ISBN:0-683-40008-8, MGI:cwg] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "high MCV" EXACT [] synonym: "high mean corpuscular volume" EXACT [] synonym: "increased MCV" EXACT [] is_a: MP:0000226 ! abnormal mean corpuscular volume [Term] id: MP:0002591 name: decreased mean corpuscular volume def: "less than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [ISBN:0-683-40008-8, MGI:cwg] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased MCV" EXACT [] synonym: "low MCV" EXACT [] synonym: "low mean corpuscular volume" EXACT [] synonym: "reduced mean corpuscular volume" EXACT [] is_a: MP:0000226 ! abnormal mean corpuscular volume [Term] id: MP:0002592 name: obsolete mean erythrocyte count traits def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] synonym: "mean red blood cell traits" EXACT [] is_obsolete: true [Term] id: MP:0002593 name: high mean erythrocyte cell number def: "greater than average numbers of red blood cells" [MGI:cwg] synonym: "high mean erythrocyte count" EXACT [] synonym: "high mean RBC count" EXACT [] synonym: "high mean red blood cell count" EXACT [] is_a: MP:0003131 ! increased erythrocyte cell number [Term] id: MP:0002594 name: low mean erythrocyte cell number def: "less than average numbers of red blood cells" [MGI:cwg] synonym: "low mean erythrocyte count" EXACT [] synonym: "low mean RBC count" EXACT [] synonym: "low mean red blood cell count" EXACT [] is_a: MP:0002875 ! decreased erythrocyte cell number [Term] id: MP:0002596 name: abnormal hematocrit alt_id: MP:0000206 alt_id: MP:0001578 def: "greater or less than the average percentage of a volume of a blood sample occupied by red blood cells" [MESH:E01.450.375.400] synonym: "abnormal haematocrit" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0002597 name: obsolete platelet traits def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002598 name: obsolete mean platelet volume traits def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002599 name: increased mean platelet volume def: "increased average content of platelet cells over normal" [MGI:cml] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "high mean platelet volume" EXACT [] synonym: "increased MPV" EXACT [] synonym: "increased platelet size" BROAD [] synonym: "large platelet size" BROAD [] synonym: "large platelets" BROAD [HP:0011877] is_a: MP:0002586 ! abnormal platelet volume [Term] id: MP:0002600 name: obsolete mean leukocyte count traits def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002601 name: obsolete lymphocyte count traits def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002602 name: abnormal eosinophil cell number def: "deviation from the normal numbers of eosinophils" [MGI:cwg] synonym: "abnormal eosinophil count" EXACT [] synonym: "eosinophil count traits" EXACT [] is_a: MP:0005061 ! abnormal eosinophil morphology is_a: MP:0020201 ! abnormal granulocyte number [Term] id: MP:0002603 name: obsolete basophil count traits def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002604 name: obsolete neutrophil count traits def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002605 name: obsolete monocyte count traits def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002606 name: increased basophil cell number def: "higher than average number of basophils as measured by the percent of the total number of leukocytes" [CL:0000767, https://orcid.org/0000-0003-3691-0324, MPD:Mouse_Phenome_Database] synonym: "high basophil count" EXACT [] synonym: "increased basophil count" EXACT [] synonym: "increased basophil number" EXACT [] is_a: MP:0000322 ! increased granulocyte number is_a: MP:0012442 ! abnormal basophil cell number [Term] id: MP:0002607 name: decreased basophil cell number def: "lower than average number of basophils as measured by the percent of the total number of leukocytes" [CL:0000767, https://orcid.org/0000-0003-3691-0324, MPD:Mouse_Phenome_Database] synonym: "decreased basophil count" EXACT [] synonym: "decreased basophil number" EXACT [] synonym: "low basophil count" EXACT [] synonym: "reduced basophil cell number" EXACT [] is_a: MP:0000334 ! decreased granulocyte number is_a: MP:0012442 ! abnormal basophil cell number [Term] id: MP:0002608 name: increased hematocrit alt_id: MP:0000207 alt_id: MP:0001579 def: "greater than average percentage of a volume of a blood sample occupied by red blood cells" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "increased haematocrit" EXACT [] is_a: MP:0002596 ! abnormal hematocrit [Term] id: MP:0002609 name: obsolete blood physiology traits def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002610 name: obsolete blood chemistry traits def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002611 name: obsolete glucose homeostasis traits def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002614 name: obsolete lipid homeostasis traits def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002619 name: abnormal lymphocyte morphology alt_id: MP:0005063 def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "lymphocyte abnormalities" BROAD [] synonym: "lymphocyte structural abnormalities" EXACT [] is_a: MP:0008247 ! abnormal mononuclear cell morphology [Term] id: MP:0002620 name: abnormal monocyte morphology def: "any structural anomaly of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood" [CL:0000576, https://orcid.org/0000-0003-3691-0324] synonym: "monocyte abnormalities" BROAD [] is_a: MP:0008248 ! abnormal mononuclear phagocyte morphology [Term] id: MP:0002621 name: delayed neural tube closure def: "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" [J:79790, MGI:cml] is_a: MP:0003720 ! abnormal neural tube closure [Term] id: MP:0002622 name: abnormal cochlear hair cell morphology def: "any structural anomaly of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] synonym: "abnormal auditory hair cell morphology" EXACT [CL:0000202] synonym: "abnormal cochlear hair cells morphology" EXACT [] is_a: MP:0000042 ! abnormal organ of Corti morphology is_a: MP:0000045 ! abnormal hair cell morphology is_a: MP:0003308 ! abnormal cochlear sensory epithelium morphology [Term] id: MP:0002623 name: abnormal vestibular hair cell morphology def: "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" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "abnormal vestibular hair cells morphology" EXACT [] is_a: MP:0000034 ! abnormal inner ear vestibule morphology is_a: MP:0000045 ! abnormal hair cell morphology [Term] id: MP:0002624 name: abnormal tricuspid valve morphology def: "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)" [ISBN:0-683-40008-8, MESH:A07.541.510.893] subset: CvDC_Terms synonym: "abnormal right atrioventricular valve morphology" EXACT [https://orcid.org/0000-0002-6490-7723, UBERON:0002134] synonym: "abnormal right AV valve morphology" EXACT [] synonym: "abnormal tricuspid valvar morphology" EXACT [] synonym: "tricuspid valvar dysplasia" EXACT [] synonym: "tricuspid valve dysplasia" EXACT [] is_a: MP:0002745 ! abnormal atrioventricular valve morphology [Term] id: MP:0002625 name: heart left ventricle hypertrophy def: "enlargement of heart left ventricular wall from the increase in size of its cells" [https://orcid.org/0000-0003-4606-0597] subset: CvDC_Terms synonym: "hypertrophic left ventricle" EXACT [] synonym: "left ventricle hypertrophy" EXACT [] synonym: "left ventricular hypertrophy" EXACT [] xref: Fyler:3608 is_a: MP:0001625 ! cardiac hypertrophy is_a: MP:0010579 ! increased heart left ventricle size is_a: MP:0010630 ! abnormal cardiac muscle tissue morphology is_a: MP:0031533 ! abnormal heart left ventricle wall morphology [Term] id: MP:0002626 name: increased heart rate def: "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" [https://orcid.org/0000-0002-0371-1954] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "tachycardia" EXACT [] is_a: MP:0001629 ! abnormal heart rate [Term] id: MP:0002627 name: increased teratoma incidence def: "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" [MPATH:322] synonym: "teratoma" RELATED [] is_a: MP:0010273 ! increased classified tumor incidence [Term] id: MP:0002628 name: hepatic steatosis def: "an accumulation of fat deposits in the liver" [https://orcid.org/0000-0002-0371-1954] synonym: "fatty liver" EXACT [] synonym: "hepatic lipidosis" RELATED [] synonym: "hepatosteatosis" EXACT [] synonym: "liver adiposis" EXACT [] synonym: "liver steatosis" EXACT [] is_a: MP:0000598 ! abnormal liver morphology [Term] id: MP:0002629 name: hyperactivity elicited by ethanol administration def: "increased activity after ingestion of alcohol" [MGI:Nmice] synonym: "hyperactivity elicited by alcohol administration" EXACT [] is_a: MP:0008911 ! induced hyperactivity is_a: MP:0009751 ! enhanced behavioral response to alcohol [Term] id: MP:0002630 name: abnormal endocochlear potential def: "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" [https://orcid.org/0000-0002-0371-1954, J:80917] synonym: "abnormal endolymphatic potential" EXACT [] synonym: "abnormal EP" EXACT [] is_a: MP:0006335 ! abnormal hearing electrophysiology is_a: MP:0006390 ! abnormal cochlear endolymph physiology [Term] id: MP:0002631 name: abnormal epididymis morphology def: "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" [https://orcid.org/0000-0002-0371-1954] synonym: "abnormal parorchis morphology" EXACT [] synonym: "epididymis dysplasia" EXACT [] is_a: MP:0009205 ! abnormal internal male genitalia morphology [Term] id: MP:0002632 name: vestigial tail def: "a trace or rudimentary caudal structure, often a short boneless filament; the degenerated remains of any tail structure" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] is_a: MP:0002111 ! abnormal tail morphology [Term] id: MP:0002633 name: persistent truncus arteriosus def: "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "common arterial trunk" EXACT [] synonym: "persistent truncus arteriosis" EXACT [] synonym: "PTA" EXACT [] synonym: "single outflow tract" EXACT [] synonym: "truncus arteriosis" EXACT [] synonym: "truncus arteriosus" EXACT [] xref: Fyler:0500 xref: Fyler:500 is_a: MP:0010426 ! abnormal heart and great artery attachment is_a: MP:0010454 ! abnormal truncus arteriosus septation is_a: MP:0010651 ! aorticopulmonary septal defect [Term] id: MP:0002634 name: abnormal sensorimotor gating def: "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)" [https://orcid.org/0000-0002-0371-1954, J:42758] is_a: MP:0003633 ! abnormal nervous system physiology [Term] id: MP:0002635 name: reduced sensorimotor gating def: "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)" [https://orcid.org/0000-0002-0371-1954] synonym: "impaired sensorimotor gating" EXACT [] is_a: MP:0002634 ! abnormal sensorimotor gating [Term] id: MP:0002636 name: delayed vaginal opening def: "the opening of the genital canal in a female occurs at a later than expected age" [MGI:cwg] synonym: "delayed vaginal opening time" EXACT [] synonym: "late onset of vaginal opening" EXACT [] is_a: MP:0001938 ! delayed sexual maturation is_a: MP:0020150 ! abnormal timing of vaginal opening [Term] id: MP:0002637 name: small uterus def: "reduced size of the female muscular organ of gestation" [https://orcid.org/0000-0003-3691-0324] synonym: "decreased uterine size" EXACT [] synonym: "decreased uterus size" EXACT [] synonym: "reduced uterine size" EXACT [] synonym: "reduced uterus size" EXACT [] synonym: "small metra" EXACT [] is_a: MP:0004902 ! abnormal uterus size [Term] id: MP:0002638 name: abnormal pupillary reflex def: "alterations or failure of the pupil to change in diameter as a reflex response to any stimulus" [ISBN:0-683-40008-8, MGI:cml] is_a: MP:0001961 ! abnormal reflex is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0002639 name: micrognathia def: "abnormally reduced size of the jaws, especially of the mandible" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "brachygnathia" NARROW [] synonym: "brachygnathism" NARROW [] synonym: "decreased jaw size" EXACT [] synonym: "mandibular hypoplasia" NARROW [] synonym: "micrognathism" EXACT [] xref: Fyler:4163 is_a: MP:0000454 ! abnormal jaw morphology [Term] id: MP:0002640 name: reticulocytosis def: "an increase in the number of circulating reticulocytes, which is normally less than 1 per cent of the total number of red blood cells" [ISBN:0-683-40008-8] synonym: "elevated reticulocyte number" EXACT [] synonym: "increased immature erythrocyte number" EXACT [] synonym: "increased reticulocyte number" EXACT [] is_a: MP:0011913 ! abnormal reticulocyte cell number is_a: MP:0013663 ! increased myeloid cell number [Term] id: MP:0002641 name: anisopoikilocytosis def: "presence in blood of RBCs of abnormal shapes and sizes" [J:78271, MGI:cwg] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0002642 name: anisocytosis alt_id: MP:0000246 alt_id: MP:0001609 def: "considerable variation of the size of red blood cells compared to a normal range" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC is_a: MP:0010067 ! increased red blood cell distribution width [Term] id: MP:0002643 name: poikilocytosis def: "blood cells of variable shape on smear" [J:7209, MGI:cwg] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0002644 name: decreased circulating triglyceride level alt_id: MP:0005143 def: "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" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "low plasma triacylglycerol level" NARROW [] synonym: "low plasma triglyceride level" NARROW [] synonym: "low serum triacylglycerol level" NARROW [] synonym: "low serum triglyceride level" NARROW [] synonym: "reduced circulating triglyceride level" EXACT [] is_a: MP:0005318 ! decreased triglyceride level is_a: MP:0011969 ! abnormal circulating triglyceride level [Term] id: MP:0002645 name: abnormal intestinal cholesterol absorption def: "any anomaly in the ability of the body to take up cholesterol into the blood by absorption from the small intestine" [GO:0030299, ISBN:0-683-40008-8] is_a: MP:0005342 ! abnormal intestinal lipid absorption [Term] id: MP:0002646 name: increased intestinal cholesterol absorption def: "augmented ability of the body to take up cholesterol into the blood by absorption from the small intestine" [GO:0030299, ISBN:0-683-40008-8] synonym: "increased cholesterol absorption" RELATED [] is_a: MP:0002645 ! abnormal intestinal cholesterol absorption [Term] id: MP:0002647 name: decreased intestinal cholesterol absorption def: "reduced ability of the body to take up cholesterol into the blood by absorption from the small intestine" [GO:0030299, ISBN:0-683-40008-8] synonym: "decreased cholesterol absorption" RELATED [] synonym: "reduced cholesterol absorption" RELATED [] synonym: "reduced intestinal cholesterol absorption" EXACT [] is_a: MP:0002645 ! abnormal intestinal cholesterol absorption [Term] id: MP:0002648 name: delaminated enamel def: "separation of the hard outer coating of the exposed portion of the tooth from the underlying hard tissue" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] is_a: MP:0002576 ! abnormal enamel morphology [Term] id: MP:0002649 name: abnormal enamel rod pattern def: "any anomaly in the orientation of the structural unit of tooth enamel" [ISBN:0-683-40008-8] is_a: MP:0002576 ! abnormal enamel morphology [Term] id: MP:0002650 name: abnormal ameloblast morphology def: "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" [https://medical-dictionary.thefreedictionary.com/ameloblast, PMID:19090561] synonym: "abnormal ameloblast cell morphology" EXACT [] synonym: "abnormal enamel secreting cell morphology" EXACT [] is_a: MP:0030544 ! abnormal enamel development [Term] id: MP:0002651 name: abnormal sciatic nerve morphology def: "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" [MESH:A08.800.800.720.450.760] is_a: MP:0001077 ! abnormal spinal nerve morphology [Term] id: MP:0002652 name: thin myocardium def: "reduced thickness of the cardiac muscle layer" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "thin myocardial wall" RELATED [] is_a: MP:0005329 ! abnormal myocardium layer morphology [Term] id: MP:0002653 name: abnormal ependyma morphology def: "any structural anomaly of the cellular membrane that lines the brain ventricles and the central canal of the spinal cord" [ISBN:0-683-40008-8, MGI:il] synonym: "abnormal ependyma" EXACT [] synonym: "ependyma dysplasia" EXACT [] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0002654 name: spongiform encephalopathy def: "a neurodegenerative state characterized by the appearance of large vacuolated areas in the brain cells, resembling a sponge" [https://orcid.org/0000-0003-3691-0324] synonym: "spongiform degeneration" EXACT [] is_a: MP:0002229 ! neurodegeneration [Term] id: MP:0002655 name: abnormal keratinocyte morphology def: "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" [ISBN:0-683-40008-8] is_a: MP:0001216 ! abnormal epidermal layer morphology [Term] id: MP:0002656 name: abnormal keratinocyte differentiation def: "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" [ISBN:0-683-40008-8] is_a: MP:0002655 ! abnormal keratinocyte morphology is_a: MP:0005076 ! abnormal cell differentiation [Term] id: MP:0002657 name: chondrodystrophy def: "abnormal development of the cartilage primordia of long bones, resulting in abnormally short extremities but normal head and trunk" [MGI:il] synonym: "chondrodysplasia" EXACT [] is_a: MP:0002113 ! abnormal skeleton development [Term] id: MP:0002658 name: abnormal liver regeneration def: "anomaly in the renewal, repair, and/or regrowth of liver tissue following injury or disease" [https://orcid.org/0000-0002-6490-7723] synonym: "abnormal hepatic regeneration" EXACT [] is_a: MP:0000609 ! abnormal liver physiology [Term] id: MP:0002659 name: pituitary gland hypoplasia def: "decrease in the number of normal cells in normal arrangement in the pituitary, typically resulting in decreased size" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] synonym: "hypoplastic pituitary" RELATED [] synonym: "pituitary hypoplasia" RELATED [] is_a: MP:0005361 ! small pituitary gland [Term] id: MP:0002660 name: abnormal caput epididymis morphology def: "any structural anomaly of the head of the epididymis" [ISBN:0-683-40008-8] is_a: MP:0002631 ! abnormal epididymis morphology [Term] id: MP:0002661 name: abnormal corpus epididymis morphology def: "any structural anomaly of the body of the epididymis" [ISBN:0-683-40008-8] is_a: MP:0002631 ! abnormal epididymis morphology [Term] id: MP:0002662 name: abnormal cauda epididymis morphology def: "any structural anomaly of the tail of the epididymis" [ISBN:0-683-40008-8] is_a: MP:0002631 ! abnormal epididymis morphology [Term] id: MP:0002663 name: absent blastocoele def: "developmental anomaly resulting in the absence of the cavity in the blastocyst of the developing embryo" [ISBN:0-683-40008-8, MGI:cwg] synonym: "abnormal cavitation" EXACT [] synonym: "absent blastocoel cavity" EXACT [] synonym: "failure to cavitate" EXACT [] synonym: "failure to form blastocele" EXACT [] synonym: "failure to form blastocyst cavity" EXACT [] is_a: MP:0004963 ! abnormal blastocoele morphology [Term] id: MP:0002664 name: decreased circulating adrenocorticotropin level def: "decreased concentration in the blood of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex" [ISBN:0-683-40008-8] synonym: "decreased serum levels of ACTH" NARROW [] synonym: "decreased serum levels of adrenocorticotropic hormone" NARROW [] synonym: "decreased serum levels of adrenocorticotropin" NARROW [] synonym: "decreased serum levels of adrenotropic hormone" NARROW [] synonym: "decreased serum levels of adrenotropin" NARROW [] synonym: "reduced circulating adrenocorticotropin level" EXACT [] is_a: MP:0005118 ! decreased circulating pituitary hormone level is_a: MP:0005128 ! decreased adrenocorticotropin level [Term] id: MP:0002665 name: decreased circulating corticosterone level def: "less than the normal blood amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion" [ISBN:0-683-40008-8] synonym: "decreased serum levels of corticosterone" NARROW [] synonym: "hypocorticosteronaemia" EXACT [] synonym: "hypocorticosteronemia" EXACT [] synonym: "reduced circulating corticosterone level" EXACT [] is_a: MP:0003368 ! decreased circulating glucocorticoid level is_a: MP:0005345 ! abnormal circulating corticosterone level [Term] id: MP:0002666 name: increased circulating aldosterone level def: "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" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] synonym: "alsosteronism" EXACT [] synonym: "elevated serum levels of aldosterone" NARROW [] synonym: "hyperaldosteronism" EXACT [] synonym: "increased plasma aldosterone" NARROW [] is_a: MP:0003373 ! increased circulating mineralocorticoid level is_a: MP:0005346 ! abnormal circulating aldosterone level [Term] id: MP:0002667 name: decreased circulating aldosterone level def: "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" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] synonym: "decreased serum aldosterone level" NARROW [] synonym: "decreased serum levels of aldosterone" NARROW [] synonym: "hypoaldosteronism" EXACT [] synonym: "reduced circulating aldosterone level" EXACT [] is_a: MP:0003374 ! decreased circulating mineralocorticoid level is_a: MP:0005346 ! abnormal circulating aldosterone level [Term] id: MP:0002668 name: abnormal circulating potassium level def: "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" [MGI:cwg] synonym: "abnormal blood potassium level" EXACT [] is_a: MP:0006357 ! abnormal circulating mineral level is_a: MP:0020887 ! abnormal potassium level [Term] id: MP:0002669 name: abnormal scrotum morphology def: "any structural anomaly of the external sac of skin that encloses the testes" [ISBN:0-683-40008-8] synonym: "abnormality of the scrotum" BROAD [] synonym: "scrotum dysplasia" EXACT [] is_a: MP:0009199 ! abnormal external male genitalia morphology [Term] id: MP:0002670 name: absent scrotum def: "missing the external sac of skin that encloses the testes" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] synonym: "absence of scrotum" EXACT [] is_a: MP:0002669 ! abnormal scrotum morphology [Term] id: MP:0002671 name: belted def: "the appearance of a stripe of white fur around the circumference of the abdomen" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002075 ! abnormal coat/hair pigmentation [Term] id: MP:0002672 name: abnormal pharyngeal arch artery morphology alt_id: MP:0001617 alt_id: MP:0001618 def: "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" [MGI:cwg] comment: Do not confuse embryonic aortic arches with the adult aortic arch (MP:0004113). synonym: "abnormal aortic arches" EXACT [] synonym: "abnormal branchial arch arteries" EXACT [] synonym: "abnormal branchial arch artery morphology" EXACT [] synonym: "abnormal embryonic aortic arch arteries" RELATED [] synonym: "abnormal embryonic aortic arch artery morphology" EXACT [] synonym: "abnormal PAA" EXACT [] is_a: MP:0002884 ! abnormal pharyngeal arch morphology is_a: MP:0003410 ! abnormal artery development [Term] id: MP:0002673 name: abnormal sperm number def: "increased or decreased numbers of spermatozoa" [https://orcid.org/0000-0002-0371-1954] synonym: "abnormal sperm count" EXACT [] is_a: MP:0001929 ! abnormal gametogenesis [Term] id: MP:0002674 name: abnormal sperm motility def: "anomalies in the mobility of the spermatozoa" [ISBN:0-683-40008-8] is_a: MP:0004543 ! abnormal sperm physiology is_a: MP:0020846 ! abnormal cell motility [Term] id: MP:0002675 name: asthenozoospermia def: "loss or reduction of the mobility of the spermatozoa, frequently associated with infertility" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] synonym: "asthenospermia" EXACT [] synonym: "impaired sperm motility" EXACT [] is_a: MP:0002674 ! abnormal sperm motility [Term] id: MP:0002676 name: uterus hyperplasia def: "increase in the number of normal cells in normal arrangement in the uterus, typically resulting in increased size" [https://orcid.org/0000-0003-3691-0324] synonym: "hyperplastic uterus" EXACT [] synonym: "metra hyperplasia" EXACT [] synonym: "metral hyperplasia" EXACT [] synonym: "uterine hyperplasia" EXACT [] is_a: MP:0004906 ! enlarged uterus [Term] id: MP:0002678 name: increased follicle recruitment def: "greater frequency of the entry of arrested primordial follicles into the pool of growing follicles" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0001130 ! abnormal ovarian folliculogenesis [Term] id: MP:0002679 name: abnormal corpus luteum morphology def: "any structural anomaly of the yellow endocrine body formed in the ovary after follicle rupture" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal corpora lutea" BROAD [] is_a: MP:0001126 ! abnormal ovary morphology [Term] id: MP:0002680 name: decreased corpora lutea number def: "fewer than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrous cycle" [https://orcid.org/0000-0003-3691-0324] synonym: "decreased number of corpora lutea" EXACT [] synonym: "reduced corpora lutea number" EXACT [] is_a: MP:0002679 ! abnormal corpus luteum morphology [Term] id: MP:0002681 name: increased corpora lutea number def: "greater than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrous cycle" [https://orcid.org/0000-0003-3691-0324] synonym: "increased number of corpora lutea" EXACT [] is_a: MP:0002679 ! abnormal corpus luteum morphology [Term] id: MP:0002682 name: decreased mature ovarian follicle number def: "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" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "decreased number of mature ovarian follicles" EXACT [] synonym: "reduced mature ovarian follicle number" EXACT [] synonym: "reduced number of mature ovarian follicles" EXACT [] is_a: MP:0008871 ! abnormal ovarian follicle number is_a: MP:0009364 ! abnormal mature ovarian follicle morphology [Term] id: MP:0002683 name: delayed fertility def: "ability to produce live offspring occurring at a later than expected age" [MGI:llw2] is_a: MP:0001937 ! abnormal sexual maturation is_a: MP:0002161 ! abnormal fertility/fecundity [Term] id: MP:0002685 name: abnormal spermatogonia proliferation def: "anomaly in the proliferation of the spermatogonial stem cells either due to abnormal mitosis or apoptosis" [https://orcid.org/0000-0002-0371-1954, J:62271] synonym: "abnormal proliferation of spermatogonia" EXACT [] is_a: MP:0000350 ! abnormal cell proliferation is_a: MP:0001156 ! abnormal spermatogenesis [Term] id: MP:0002686 name: globozoospermia def: "any structural anomaly of the acrosome resulting in a round sperm head" [https://orcid.org/0000-0002-0371-1954, J:57312] synonym: "acrosome malformation of spermatozoa" EXACT [] synonym: "round sperm heads" EXACT [] synonym: "round-headed spermatozoa" EXACT [] is_a: MP:0031354 ! abnormal acrosome assembly [Term] id: MP:0002687 name: oligozoospermia alt_id: MP:0002684 def: "reduced concentration of spermatozoa in the cauda epididymis or seminal fluid" [https://orcid.org/0000-0002-0371-1954, J:57312] synonym: "decreased sperm count" EXACT [] synonym: "decreased sperm number" EXACT [] synonym: "hypospermia" EXACT [] synonym: "oligospermia" EXACT [] synonym: "reduced sperm count" EXACT [] synonym: "reduced sperm number" EXACT [] is_a: MP:0001124 ! abnormal gametes is_a: MP:0001156 ! abnormal spermatogenesis is_a: MP:0002673 ! abnormal sperm number is_a: MP:0004901 ! decreased male germ cell number [Term] id: MP:0002688 name: obsolete increased sensitivity to addictive substance def: "OBSOLETE. decreased threshold to obtain a physiological or behavioral response to an addictive substance" [https://orcid.org/0000-0003-3691-0324] synonym: "decreased resistance to addictive substance" EXACT [] synonym: "increased susceptibility to addictive substance" EXACT [] is_obsolete: true [Term] id: MP:0002689 name: abnormal molar morphology def: "any structural anomaly of the most posterior teeth located on either side of the jaw, characterized by a large crown and broad chewing surface" [MESH:A14.549.167.860.525, MGI:il] subset: IMPC subset: Sanger_Terms synonym: "abnormal molars" EXACT [] is_a: MP:0002100 ! abnormal tooth morphology [Term] id: MP:0002690 name: akinesia def: "acquired absence of voluntary movement or loss of the ability to move such as temporary or prolonged paralysis or freezing in place" [MGI:cml] is_a: MP:0003313 ! abnormal locomotor activation [Term] id: MP:0002691 name: small stomach def: "reduced size of the stomach" [MGI:dlb] synonym: "decreased stomach size" EXACT [] is_a: MP:0000470 ! abnormal stomach morphology [Term] id: MP:0002693 name: abnormal pancreas physiology def: "any functional anomaly of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [ISBN:0-683-40008-8] synonym: "abnormal pancreas function" EXACT [] is_a: MP:0002164 ! abnormal gland physiology [Term] id: MP:0002694 name: abnormal pancreas secretion def: "anomaly in the production and/or release of biologically active substances from pancreatic tissue" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002693 ! abnormal pancreas physiology [Term] id: MP:0002695 name: abnormal circulating glucagon level def: "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" [MESH:D06.472.699.587.469.500] synonym: "abnormal circulating HG-factor level" EXACT [] synonym: "abnormal glucagon level" EXACT [] is_a: MP:0002078 ! abnormal glucose homeostasis is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0002696 name: decreased circulating glucagon level def: "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" [MESH:D06.472.699.587.469.500] synonym: "decreased plasma glucagon levels" NARROW [] synonym: "reduced circulating glucagon level" EXACT [] is_a: MP:0002695 ! abnormal circulating glucagon level is_a: MP:0014457 ! decreased circulating hormone level [Term] id: MP:0002697 name: abnormal eye size def: "deviation from the average range of eye size for a given organism" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC_Prenatal subset: Sanger_Terms synonym: "eye size abnormalities" EXACT [] is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0002698 name: abnormal sclera morphology def: "any structural anomaly of the fibrous, outer envelope of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea" [MESH:A09.371.784] synonym: "abnormal sclerotic coat morphology" EXACT [] synonym: "abnormal sclerotica morphology" EXACT [] synonym: "abnormal tunica albuginea oculi morphology" EXACT [] synonym: "abnormal tunica sclerotica morphology" EXACT [] synonym: "sclera dysplasia" EXACT [] is_a: MP:0002092 ! abnormal eye morphology [Term] id: MP:0002699 name: abnormal vitreous body morphology def: "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" [MESH:A09.371.943] subset: IMPC subset: Sanger_Terms synonym: "abnormal corpus vitreum" EXACT [] synonym: "abnormal hyaloid body" EXACT [] synonym: "abnormal vitreal body" EXACT [] synonym: "abnormal vitreum" EXACT [] synonym: "vitreous abnormalities" EXACT [] synonym: "vitreous body abnormalities" EXACT [] is_a: MP:0005195 ! abnormal posterior eye segment morphology [Term] id: MP:0002700 name: increased opacity of vitreous body alt_id: MP:0001291 def: "the transparent gel filling the inner portion of the eyeball between the lens and retina becomes cloudy and impervious to light" [MGI:llw2] synonym: "increased opacity of corpus vitreum" EXACT [] synonym: "increased opacity of eyeball" EXACT [] synonym: "increased opacity of hyaloid body" EXACT [] synonym: "increased opacity of vitreal body" EXACT [] synonym: "increased opacity of vitreum" EXACT [] synonym: "increased vitreous body opacity" EXACT [] is_a: MP:0002699 ! abnormal vitreous body morphology [Term] id: MP:0002702 name: decreased circulating free fatty acids level def: "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" [ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased circulating free fatty acid level" EXACT [] synonym: "decreased circulating non-esterified fatty acids level" EXACT [] synonym: "decreased FFA level" EXACT [] synonym: "decreased free fatty acids level" RELATED [] synonym: "decreased NEFA level" RELATED [] synonym: "decreased UFA level" EXACT [] synonym: "decreased unesterified fatty acids level" EXACT [] synonym: "lowered serum free fatty acid levels" NARROW [] synonym: "reduced circulating free fatty acid level" EXACT [] synonym: "reduced circulating non-esterified fatty acids level" EXACT [] synonym: "reduced FFA level" EXACT [] synonym: "reduced free fatty acids level" RELATED [] synonym: "reduced NEFA level" RELATED [] synonym: "reduced UFA level" EXACT [] synonym: "reduced unesterified fatty acids level" EXACT [] is_a: MP:0001553 ! abnormal circulating free fatty acids level is_a: MP:0005282 ! decreased fatty acids level [Term] id: MP:0002703 name: abnormal renal tubule morphology def: "any structural anomaly of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal kidney tubule morphology" EXACT [] synonym: "abnormal renal tubules morphology" EXACT [] synonym: "kidney tubule dysplasia" EXACT [] synonym: "renal tubule dysplasia" EXACT [] is_a: MP:0003881 ! abnormal nephron morphology [Term] id: MP:0002704 name: tubular nephritis def: "inflammation of the renal tubules" [ISBN:0-683-40008-8] is_a: MP:0001859 ! kidney inflammation is_a: MP:0002703 ! abnormal renal tubule morphology [Term] id: MP:0002705 name: dilated renal tubule def: "stretched or widened aperture of the luminal space of one or more of the loops of Henle, proximal convoluted tubules or distal convoluted tubules" [https://orcid.org/0000-0003-3691-0324] synonym: "dilated renal tubules" EXACT [] synonym: "renal tubule dilation" EXACT [] synonym: "renal tubule ectasia" EXACT [] is_a: MP:0002703 ! abnormal renal tubule morphology [Term] id: MP:0002706 name: abnormal kidney size def: "anomalous physical bulk one or both of the organs responsible for urine secretion" [MGI:cwg] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0002707 name: abnormal kidney weight def: "anomaly in the average weight of the organs responsible for urine secretion" [MGI:cwg] is_a: MP:0002706 ! abnormal kidney size [Term] id: MP:0002708 name: nephrolithiasis alt_id: MP:0002709 def: "calculi (stones) occurring in the kidney" [MESH:C12.777.419.600] synonym: "kidney calculi" EXACT [] synonym: "kidney calculus" EXACT [] synonym: "kidney stone" EXACT [] synonym: "kidney stones" EXACT [] synonym: "nephrolith" EXACT [] synonym: "renal calculi" RELATED [] synonym: "renal calculus" EXACT [] synonym: "renal stones" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology is_a: MP:0002136 ! abnormal kidney physiology is_a: MP:0005360 ! urolithiasis [Term] id: MP:0002710 name: increased glucagon secretion def: "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" [MESH:D06.472.699.587.469.500] synonym: "elevated glucagon secretion" EXACT [] is_a: MP:0003565 ! abnormal glucagon secretion [Term] id: MP:0002711 name: decreased glucagon secretion def: "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" [MESH:D06.472.699.587.469.500] synonym: "reduced glucagon secretion" EXACT [] is_a: MP:0003565 ! abnormal glucagon secretion [Term] id: MP:0002712 name: increased circulating glucagon level def: "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" [MESH:D06.472.699.587.469.500] synonym: "increased plasma glucagon level" NARROW [] is_a: MP:0002695 ! abnormal circulating glucagon level is_a: MP:0014456 ! increased circulating hormone level [Term] id: MP:0002713 name: abnormal glycogen catabolism def: "inability to breakdown glycogen; or reduced or increased rate of glycogen breakdown" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal glucogenesis" EXACT [] synonym: "abnormal glycogenolysis" EXACT [] is_a: MP:0005438 ! abnormal glycogen homeostasis [Term] id: MP:0002714 name: increased glycogen catabolism rate def: "increased breakdown of this highly branched polysaccharide composed of glucose subunits; glycogen is the major carbohydrate storage form in the body" [MGI:cwg] synonym: "elevated glycogen catabolism rate" RELATED [] synonym: "increased glucogenesis rate" RELATED [] synonym: "increased glycogenolysis" EXACT [] is_a: MP:0002713 ! abnormal glycogen catabolism [Term] id: MP:0002715 name: decreased glycogen catabolism rate def: "decreased breakdown of this highly branched polysaccharide composed of glucose subunits; glycogen is the major carbohydrate storage form in the body" [MGI:cwg] synonym: "decreased glucogenesis rate" RELATED [] synonym: "decreased glycogenolysis" EXACT [] synonym: "reduced glycogen catabolism rate" RELATED [] is_a: MP:0002713 ! abnormal glycogen catabolism [Term] id: MP:0002716 name: small male preputial gland def: "reduced size of the sebaceous glands of the corona and neck of the glans penis" [ISBN:0-683-40008-8, MGI:il] synonym: "decreased male preputial gland size" EXACT [] synonym: "small male preputial glands" EXACT [] is_a: MP:0002717 ! abnormal male preputial gland morphology is_a: MP:0012725 ! small sebaceous gland [Term] id: MP:0002717 name: abnormal male preputial gland morphology def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "abnormal morphology of Tyson's glands" EXACT [] synonym: "abnormal Tyson's gland morphology" EXACT [] is_a: MP:0009102 ! abnormal glans penis morphology is_a: MP:0013325 ! abnormal male reproductive gland morphology is_a: MP:0013329 ! abnormal preputial gland morphology [Term] id: MP:0002718 name: abnormal inner cell mass morphology def: "any structural anomaly of the cells of the blastocyst that develop into the body of the embryo and some extraembryonic tissues" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] synonym: "abnormal embryoblast" EXACT [] is_a: MP:0004957 ! abnormal blastocyst morphology [Term] id: MP:0002720 name: obsolete urogenital system: dysmorphology alt_id: MP:0002719 def: "OBSOLETE. abnormal development of the urogenital system resulting in morphological abnormality" [https://orcid.org/0000-0003-3691-0324] synonym: "genitourinary abnormalities" EXACT [] synonym: "genitourinary system: dysmorphology" EXACT [] synonym: "urogenital system abnormalities" EXACT [] is_obsolete: true [Term] id: MP:0002721 name: obsolete abnormal urogenital system physiology def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002722 name: abnormal immune system organ morphology alt_id: MP:0000686 def: "any structural anomaly of lymphoid organs" [MGI:cwg] synonym: "abnormal lymph organ" EXACT [] synonym: "immune system organ dysplasia" EXACT [] synonym: "immune system: organ abnormalities" EXACT [] is_a: MP:0000685 ! abnormal immune system morphology [Term] id: MP:0002723 name: abnormal immune serum protein physiology def: "abnormal concentration or function of circulating immune proteins" [MGI:cwg] synonym: "immune system: serum protein abnormalities" EXACT [] is_a: MP:0001790 ! abnormal immune system physiology [Term] id: MP:0002724 name: enhanced wound healing def: "increased ability to self-repair and close wounds" [J:42016, MGI:dlb] synonym: "improved wound healing" EXACT [] is_a: MP:0005023 ! abnormal wound healing [Term] id: MP:0002725 name: abnormal vein morphology def: "any structural anomaly of the blood vessels that carry blood towards the heart" [ISBN:0-683-40008-8] synonym: "abnormal venous morphology" EXACT [] synonym: "venous abnormalities" EXACT [] is_a: MP:0001614 ! abnormal blood vessel morphology [Term] id: MP:0002726 name: abnormal pulmonary vein morphology def: "any structural anomaly of the veins that return oxygenated blood from the lungs to the left atrium of the heart" [MGI:cwg] subset: CvDC_Terms synonym: "abnormal pulmonary veins" EXACT [] xref: Fyler:3000 is_a: MP:0002725 ! abnormal vein morphology [Term] id: MP:0002727 name: decreased circulating insulin level def: "less than normal levels of insulin in the blood" [ISBN:0-683-40008-8, MGI:dlb] subset: IMPC subset: Sanger_Terms synonym: "hypoinsulinaemia" EXACT [] synonym: "hypoinsulinemia" EXACT [] synonym: "reduced circulating insulin level" EXACT [] is_a: MP:0001560 ! abnormal circulating insulin level is_a: MP:0014457 ! decreased circulating hormone level [Term] id: MP:0002728 name: absent tibia def: "missing the medial and larger of the two bones of the lower leg" [ISBN:0-683-40008-8, MGI:cml] synonym: "absence of tibia" EXACT [] is_a: MP:0000558 ! abnormal tibia morphology [Term] id: MP:0002729 name: abnormal inner ear canal morphology def: "any structural anomaly of the tubular ducts of the inner ear" [ISBN:0-683-40008-8] synonym: "abnormal canal morphology" RELATED [] synonym: "abnormal canals" EXACT [] is_a: MP:0000026 ! abnormal inner ear morphology [Term] id: MP:0002730 name: head shaking def: "repetitive movement of the head in the horizontal plane" [https://orcid.org/0000-0002-0371-1954] subset: Europhenome_Terms subset: IMPC is_a: MP:0000436 ! abnormal head movements is_a: MP:0001408 ! stereotypic behavior [Term] id: MP:0002731 name: megacolon def: "extreme dilation of the colon" [ISBN:0-683-40008-8] synonym: "giant colon" EXACT [] is_a: MP:0000495 ! abnormal colon morphology [Term] id: MP:0002732 name: increased trichoepithelioma incidence def: "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" [MGI:il] synonym: "trichoepithelioma" RELATED [] is_a: MP:0010300 ! increased skin tumor incidence [Term] id: MP:0002733 name: abnormal thermal nociception alt_id: MP:0001972 def: "abnormal capability to sense pain elicited by thermal stimulation" [https://orcid.org/0000-0002-0371-1954] synonym: "abnormal response to temperature" EXACT [] is_a: MP:0001968 ! abnormal touch/ nociception [Term] id: MP:0002734 name: abnormal mechanical nociception alt_id: MP:0002737 def: "abnormal capability to sense pain elicited by mechanical stimulation" [https://orcid.org/0000-0002-0371-1954] synonym: "mechanical nociception abnormalities" EXACT [] is_a: MP:0001968 ! abnormal touch/ nociception [Term] id: MP:0002735 name: abnormal chemical nociception def: "abnormal capability to sense pain elicited by chemical stimulation" [https://orcid.org/0000-0002-0371-1954] is_a: MP:0001968 ! abnormal touch/ nociception [Term] id: MP:0002736 name: abnormal nociception after inflammation def: "changes in pain thresholds after inflammation" [https://orcid.org/0000-0002-0371-1954] is_a: MP:0001968 ! abnormal touch/ nociception [Term] id: MP:0002738 name: hyperresponsive to tactile stimuli def: "exaggerated reflex action normally induced by touch or pain" [https://orcid.org/0000-0003-3691-0324] synonym: "hypesthesia" RELATED [] synonym: "tactile hyperalgesia" EXACT [] is_a: MP:0005316 ! abnormal response to tactile stimuli is_a: MP:0005407 ! hyperalgesia [Term] id: MP:0002739 name: abnormal olfactory bulb development def: "abnormality in the progression of the formation of the olfactory bulb" [https://orcid.org/0000-0002-0371-1954, J:65380] is_a: MP:0000819 ! abnormal olfactory bulb morphology is_a: MP:0000913 ! abnormal brain development [Term] id: MP:0002740 name: heart hypoplasia def: "decrease in the number of normal cells in normal arrangement in the heart, typically resulting in decreased size" [https://orcid.org/0000-0002-0371-1954] synonym: "hypoplastic heart" EXACT [] synonym: "myocardial hypoplasia" RELATED [] is_a: MP:0002188 ! small heart [Term] id: MP:0002741 name: small olfactory bulb def: "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" [J:79871] synonym: "decreased olfactory bulb size" EXACT [] synonym: "reduced olfactory bulb size" EXACT [] is_a: MP:0000819 ! abnormal olfactory bulb morphology [Term] id: MP:0002742 name: enlarged submandibular lymph nodes def: "increased size of the submandibular lymph nodes" [https://orcid.org/0000-0002-0371-1954] synonym: "increased submandibular lymph node size" EXACT [] is_a: MP:0009627 ! abnormal submandibular lymph node morphology [Term] id: MP:0002743 name: glomerulonephritis def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "glomerular nephritis" EXACT [] synonym: "GN" EXACT [] is_a: MP:0000523 ! cortical renal glomerulopathies is_a: MP:0001859 ! kidney inflammation [Term] id: MP:0002745 name: abnormal atrioventricular valve morphology def: "any structural anomaly of the valves that gate the flow of blood from the atria into the ventricles" [https://orcid.org/0000-0002-0371-1954] subset: CvDC_Terms synonym: "abnormal atrioventricular valves morphology" EXACT [] synonym: "abnormal AV valve morphology" EXACT [] synonym: "atrioventricular valve dysplasia" EXACT [] is_a: MP:0000285 ! abnormal heart valve morphology is_a: MP:0010435 ! abnormal heart atrium and ventricle connection [Term] id: MP:0002746 name: abnormal semilunar valve morphology def: "any structural anomaly of the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk" [https://orcid.org/0000-0002-0371-1954] synonym: "abnormal outflow tract valves morphology" EXACT [] synonym: "abnormal semi-lunar valve morphology" EXACT [] synonym: "abnormal semilunar valves morphology" EXACT [] synonym: "semi-lunar valve dysplasia" EXACT [] synonym: "semilunar valve dysplasia" EXACT [] is_a: MP:0000285 ! abnormal heart valve morphology [Term] id: MP:0002747 name: abnormal aortic valve morphology def: "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)" [ISBN:0-683-40008-8, MESH:A07.541.510.110] subset: CvDC_Terms synonym: "abnormal aortic semi-lunar valve morphology" EXACT [] synonym: "abnormal aortic semilunar valve morphology" EXACT [https://radiopaedia.org/articles/aortic-valve, https://www.ncbi.nlm.nih.gov/books/NBK559384/] synonym: "abnormal left arterial valve morphology" EXACT [http://www.vhlab.umn.edu/atlas/anatomy-tutorial/cardiac-valve-nomenclature.shtml] synonym: "abnormal left semi-lunar valve morphology" EXACT [] synonym: "abnormal left semilunar valve morphology" EXACT [https://www.kenhub.com/en/library/anatomy/aortic-valve] synonym: "abnormal left ventriculoarterial junction morphology" EXACT [https://www.kenhub.com/en/library/anatomy/aortic-valve] synonym: "aortic valvar abnormality" BROAD [] synonym: "aortic valve dysplasia" EXACT [] xref: Fyler:1400 xref: Fyler:1408 is_a: MP:0002746 ! abnormal semilunar valve morphology is_a: MP:0010429 ! abnormal heart left ventricle outflow tract morphology property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6490-7723 [Term] id: MP:0002748 name: abnormal pulmonary valve morphology def: "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)" [ISBN:0-683-40008-8, MESH:A07.541.510.738] subset: CvDC_Terms synonym: "abnormal pulmonic valve morphology" EXACT [] synonym: "abnormal right arterial valve morphology" EXACT [http://www.vhlab.umn.edu/atlas/anatomy-tutorial/cardiac-valve-nomenclature.shtml] synonym: "abnormal right semi-lunar valve morphology" EXACT [] synonym: "abnormal right semilunar valve morphology" EXACT [http://www.vhlab.umn.edu/atlas/anatomy-tutorial/cardiac-valve-nomenclature.shtml] synonym: "dysplastic pulmonary valve" EXACT [] synonym: "pulmonary valvar abnormality" BROAD [] synonym: "pulmonary valve dysplasia" EXACT [] xref: Fyler:1600 xref: Fyler:1602 is_a: MP:0002746 ! abnormal semilunar valve morphology is_a: MP:0010428 ! abnormal heart right ventricle outflow tract morphology property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6490-7723 [Term] id: MP:0002750 name: exophthalmos alt_id: MP:0006196 def: "forward displacement, bulging, or protrusion of one or both eyeballs" [MGI:il] subset: IMPC subset: Sanger_Terms synonym: "bulging eyes" EXACT [] synonym: "ocular proptosis" EXACT [] synonym: "proptosis" EXACT [] synonym: "protruding eyes" EXACT [] is_a: MP:0001299 ! abnormal eye distance/ position [Term] id: MP:0002751 name: abnormal autonomic nervous system morphology def: "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" [https://orcid.org/0000-0002-6490-7723, https://orcid.org/0000-0003-3691-0324] synonym: "autonomic nervous system abnormalities" BROAD [] synonym: "autonomic nervous system dysplasia" EXACT [] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0002752 name: abnormal somatic nervous system morphology def: "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)" [https://orcid.org/0000-0003-3691-0324] synonym: "somatic nervous system abnormalities" EXACT [] synonym: "somatic nervous system dysplasia" EXACT [] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0002753 name: dilated heart left ventricle def: "the luminal space of the lower left chamber of the heart is increased in volume or area, usually with an increase in contained fluid" [https://orcid.org/0000-0002-0371-1954] subset: CvDC_Terms synonym: "cardiac left ventricle dilation" EXACT [] synonym: "dilated cardiac left ventricle" EXACT [] synonym: "heart left ventricle dilation" EXACT [] synonym: "heart left ventricular dilation" EXACT [] xref: Fyler:1817 is_a: MP:0003921 ! abnormal heart left ventricle morphology is_a: MP:0008022 ! dilated heart ventricle [Term] id: MP:0002754 name: dilated heart right ventricle def: "the luminal space of the lower right chamber of the heart is increased in volume or area, usually with an increase in contained fluid" [https://orcid.org/0000-0002-0371-1954] subset: CvDC_Terms synonym: "cardiac right ventricle dilation" EXACT [] synonym: "dilated cardiac right ventricle" EXACT [] synonym: "heart right ventricle dilation" EXACT [] synonym: "heart right ventricular dilation" EXACT [] xref: Fyler:1827 is_a: MP:0008022 ! dilated heart ventricle [Term] id: MP:0002756 name: obsolete decreased pyramidal neuron number def: "OBSOLETE. fewer than average number of projection neurons in the hippocampus" [MGI:cml] synonym: "decreased pyramidal cell number" EXACT [] synonym: "reduced number of pyramidal cells" EXACT [] synonym: "reduced pyramidal cell number" EXACT [] is_obsolete: true consider: MP:0009971 consider: MP:0009974 [Term] id: MP:0002757 name: decreased vertical activity alt_id: MP:0001420 def: "lesser than average time spent jumping or rearing" [https://orcid.org/0000-0002-0371-1954] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "reduced activity in rearing test" EXACT [] synonym: "reduced activity in vertical open field test" EXACT [] synonym: "reduced rearing" EXACT [] synonym: "reduced reconnoitering behavior" EXACT [] synonym: "reduced reconnoitering behaviour" EXACT [] synonym: "reduced vertical activity" EXACT [] is_a: MP:0020167 ! abnormal vertical activity is_a: MP:0031392 ! hypoactivity [Term] id: MP:0002758 name: long tail def: "increased length of tail relative to average of a given reference population" [https://orcid.org/0000-0002-0371-1954] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "increased tail length" EXACT [] is_a: MP:0011999 ! abnormal tail length [Term] id: MP:0002759 name: abnormal caudal vertebrae morphology alt_id: MP:0000456 def: "any structural anomaly of the bony segments of the coccyx or tail" [https://orcid.org/0000-0002-0371-1954] comment: There are usually 27-30 caudal vertebrae present in rodents. synonym: "abnormal coccygeal vertebrae morphology" NARROW [] synonym: "abnormal tail vertebrae morphology" EXACT [] is_a: MP:0000137 ! abnormal vertebrae morphology is_a: MP:0002111 ! abnormal tail morphology [Term] id: MP:0002760 name: obsolete ectopic pyramidal neurons def: "OBSOLETE. abnormal position of one or more triangular shaped projection neurons in the hippocampus" [ISBN:0-683-40008-8] synonym: "ectopic pyramidal cells" EXACT [] synonym: "heterotopic pyramidal cells" EXACT [] is_obsolete: true consider: MP:0010011 consider: MP:0010012 [Term] id: MP:0002761 name: abnormal hippocampal mossy fiber morphology def: "absence or misprojection of axons of neuronal cells in the dentate gyrus" [J:4978, MESH:A08.186.211.464.405.200.500] synonym: "abnormal hippocampal mossy fibers" EXACT [] synonym: "abnormal hippocampal mossy fibre morphology" EXACT [] synonym: "abnormal hippocampal mossy fibres" EXACT [] is_a: MP:0000807 ! abnormal hippocampus morphology [Term] id: MP:0002762 name: ectopic cerebellar granule cells def: "granule cell body resides in a place other than the external or internal granule layer of the cerebellum" [J:4978] synonym: "ectopic granule cells" BROAD [] synonym: "ectopic granule neuron" BROAD [] synonym: "heterotopic granule cells" BROAD [] xref: CL:0001031 is_a: MP:0004098 ! abnormal cerebellar granule cell morphology is_a: MP:0011723 ! ectopic neuron [Term] id: MP:0002763 name: ectopic Bergmann glia cells def: "abnormal position of one or more astrocyte-type glia cells associated with Purkinje cells in the cerebellum" [ISBN:0-683-40008-8] synonym: "heterotopic Bergmann glia cells" EXACT [] is_a: MP:0000952 ! abnormal CNS glial cell morphology is_a: MP:0010387 ! abnormal Bergmann glial cell morphology [Term] id: MP:0002764 name: short tibia def: "reduced length of the medial and larger bone of the lower leg" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC synonym: "decreased tibia length" EXACT [] is_a: MP:0000558 ! abnormal tibia morphology is_a: MP:0004686 ! decreased length of long bones [Term] id: MP:0002765 name: short fibula def: "reduced length of the lateral and smaller of bone of the lower leg" [https://orcid.org/0000-0002-0371-1954, J:12736] synonym: "decreased fibula length" EXACT [] is_a: MP:0002187 ! abnormal fibula morphology is_a: MP:0004686 ! decreased length of long bones [Term] id: MP:0002766 name: situs inversus def: "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" [MESH:C16.131.810, PMID:16461029] subset: CvDC_Terms synonym: "situs inversus viscerum" EXACT [] synonym: "visceral inversion" EXACT [] xref: MPATH:720 is_a: MP:0004133 ! heterotaxia [Term] id: MP:0002767 name: situs ambiguus def: "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" [PMID:18039396] subset: CvDC_Terms synonym: "situs ambiguous" RELATED [] xref: MPATH:711 is_a: MP:0004133 ! heterotaxia [Term] id: MP:0002768 name: small adrenal glands def: "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" [ISBN:0-683-40008-8] synonym: "decreased adrenal gland size" EXACT [] synonym: "reduced adrenal gland size" EXACT [] is_a: MP:0000639 ! abnormal adrenal gland morphology [Term] id: MP:0002769 name: abnormal vas deferens morphology def: "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" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] synonym: "abnormal ductus deferens morphology" EXACT [] synonym: "vas deferens dysplasia" EXACT [] is_a: MP:0009205 ! abnormal internal male genitalia morphology [Term] id: MP:0002770 name: absent bulbourethral gland def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "absence of bulbourethral gland" EXACT [] synonym: "absent bulbo-urethral gland" EXACT [] synonym: "absent Cowper's gland" EXACT [] synonym: "absent Mery gland" EXACT [] is_a: MP:0001169 ! abnormal bulbourethral gland morphology [Term] id: MP:0002771 name: absent prostate gland anterior lobe def: "absence of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles" [PMID:12645922, PMID:3308446] synonym: "absence of coagulating gland" EXACT [] synonym: "absent AP" EXACT [] synonym: "absent coagulating gland" EXACT [] is_a: MP:0001163 ! abnormal prostate gland anterior lobe morphology [Term] id: MP:0002772 name: brachypodia def: "decreased length of the autopod" [J:31930, MGI:il] synonym: "decreased autopod length" EXACT [] synonym: "short feet" EXACT [] is_a: MP:0014291 ! decreased autopod size [Term] id: MP:0002773 name: decreased circulating luteinizing hormone level def: "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" [https://orcid.org/0000-0002-0371-1954, MESH:D06.472.699.322.576.463] synonym: "decreased circulating luteinising hormone level" EXACT [] synonym: "decreased serum levels of LH" NARROW [] synonym: "decreased serum levels of luteinising hormone" NARROW [] synonym: "decreased serum levels of luteinizing hormone" NARROW [] synonym: "decreased serum levels of lutropin" NARROW [] synonym: "reduced circulating luteinising hormone level" EXACT [] synonym: "reduced circulating luteinizing hormone level" EXACT [] is_a: MP:0003363 ! decreased circulating gonadotropin level is_a: MP:0005118 ! decreased circulating pituitary hormone level is_a: MP:0005132 ! decreased luteinizing hormone level [Term] id: MP:0002774 name: small prostate gland def: "reduced size of the gland in males that secretes part of the seminiferous fluid" [https://orcid.org/0000-0002-0371-1954] synonym: "decreased prostate gland size" EXACT [] is_a: MP:0004959 ! abnormal prostate gland size [Term] id: MP:0002776 name: increased Sertoli cell number def: "increased number of the supporting cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis" [https://orcid.org/0000-0002-0371-1954, J:71710] synonym: "increased sertoli cell number" EXACT [] synonym: "Sertoli cell hyperplasia" NARROW [] is_a: MP:0001149 ! testicular hyperplasia is_a: MP:0002784 ! abnormal Sertoli cell morphology [Term] id: MP:0002777 name: absent ovarian follicles def: "absence of the sac-like structure in the ovary which surrounds an ovum" [ISBN:0-683-40008-8] synonym: "absence of ovarian follicles" EXACT [] synonym: "absent growing ovarian follicles" NARROW [] is_a: MP:0008871 ! abnormal ovarian follicle number [Term] id: MP:0002778 name: meroanencephaly def: "type of anencephaly in which the brain and cranium are present in rudimentary form" [ISBN:0-683-40008-8, MGI:il] is_a: MP:0001890 ! anencephaly [Term] id: MP:0002779 name: abnormal sex gland secretion def: "anomaly in the production and/or release of hormones from a cell or a gland of the reproductive system" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0005647 ! abnormal sex gland physiology [Term] id: MP:0002780 name: decreased circulating testosterone level def: "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" [ISBN:0-683-40008-8] synonym: "decreased serum levels of testosterone" NARROW [] synonym: "reduced circulating testosterone level" EXACT [] synonym: "reduced serum levels of testosterone" NARROW [] is_a: MP:0005180 ! abnormal circulating testosterone level is_a: MP:0014457 ! decreased circulating hormone level [Term] id: MP:0002781 name: increased circulating testosterone level def: "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" [ISBN:0-683-40008-8] synonym: "elevated serum levels of testosterone" NARROW [] synonym: "increased serum levels of testosterone" NARROW [] is_a: MP:0005180 ! abnormal circulating testosterone level is_a: MP:0014456 ! increased circulating hormone level [Term] id: MP:0002782 name: abnormal testes secretion def: "anomaly in the production and/or release of hormones from testicular tissue" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal testicular secretion" EXACT [] is_a: MP:0002779 ! abnormal sex gland secretion is_a: MP:0004884 ! abnormal testis physiology [Term] id: MP:0002783 name: abnormal ovary secretion def: "anomaly in the production and/or release of hormones from ovarian tissue" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal ovarian secretion" EXACT [] is_a: MP:0002779 ! abnormal sex gland secretion is_a: MP:0003507 ! abnormal ovary physiology [Term] id: MP:0002784 name: abnormal Sertoli cell morphology def: "any structural anomaly of the supporting cells of the seminiferous tubule epithelium that create the blood-testes barrier and enable spermatogenesis" [https://orcid.org/0000-0002-0371-1954] synonym: "abnormal Sertoli cells" EXACT [] is_a: MP:0011750 ! abnormal seminiferous tubule epithelium morphology [Term] id: MP:0002785 name: absent Leydig cells def: "lack of the interstitial cells of the seminiferous tubules that secrete testosterone" [https://orcid.org/0000-0002-0371-1954] synonym: "absence of Leydig cells" EXACT [] is_a: MP:0005536 ! decreased Leydig cell number [Term] id: MP:0002786 name: abnormal Leydig cell morphology def: "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" [http://en.wikipedia.org/wiki/Leydig_cell, https://orcid.org/0000-0002-6490-7723] synonym: "abnormal Leydig cells" BROAD [] is_a: MP:0011416 ! abnormal testis interstitial tissue morphology [Term] id: MP:0002787 name: pseudohermaphroditism def: "unambiguous gonadal sex (i.e. possesses either testes or ovaries, consistent with chromosomal sex) but has ambiguous secondary sexual characteristics" [https://orcid.org/0000-0002-0371-1954, MGI:llw2] synonym: "false hermaphroditism" EXACT [] is_a: MP:0002212 ! abnormal secondary sex determination [Term] id: MP:0002788 name: female pseudohermaphroditism def: "pseudohermaphroditism in which the gonads are female (ovaries) and the karyotype is XX but the secondary sex characteristics are male-like or ambiguous" [https://orcid.org/0000-0002-0371-1954, MGI:llw2] is_a: MP:0002787 ! pseudohermaphroditism [Term] id: MP:0002789 name: male pseudohermaphroditism def: "pseudohermaphroditism in which the gonads are male (testes) and the karyotype is XY but the secondary sex characteristics are female-like or ambiguous" [https://orcid.org/0000-0002-0371-1954, MGI:llw2] is_a: MP:0002787 ! pseudohermaphroditism [Term] id: MP:0002790 name: decreased circulating follicle stimulating hormone level def: "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" [ISBN:0-683-40008-8] synonym: "decreased serum levels of follicle stimulating hormone" NARROW [] synonym: "decreased serum levels of follitropin" NARROW [] synonym: "decreased serum levels of FSH" NARROW [] synonym: "decreased serum levels of gametokinetic hormone" NARROW [] synonym: "reduced circulating follicle stimulating hormone level" EXACT [] is_a: MP:0003363 ! decreased circulating gonadotropin level is_a: MP:0005118 ! decreased circulating pituitary hormone level is_a: MP:0005130 ! decreased follicle stimulating hormone level [Term] id: MP:0002791 name: steatorrhea def: "passage of large amounts of fat in the feces due to the inability to digest and absorb it" [ISBN:0-683-40008-8] synonym: "fat indigestion" BROAD [] synonym: "stearrhea" EXACT [] is_a: MP:0014460 ! increased lipid level is_a: MP:0014476 ! abnormal feces lipid level [Term] id: MP:0002792 name: abnormal retina vasculature morphology alt_id: MP:0006189 def: "any anomaly of the structure or arrangement of blood vessels supplying the retina" [MGI:cml] subset: IMPC subset: Sanger_Terms synonym: "abnormal retinal vasculature morphology" EXACT [] is_a: MP:0001325 ! abnormal retina morphology is_a: MP:0031346 ! abnormal eye vasculature morphology [Term] id: MP:0002794 name: lenticonus def: "a conical bulging of the lens capsule and the underlying cortex of the eye" [ISBN:0-683-40008-8] comment: Lenticonus refers to a conical projection of the anterior or posterior surface of the lens, whereas lentiglobus refers to a globular projection of the anterior or posterior surface of the lens. is_a: MP:0001286 ! abnormal eye development is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0002795 name: dilated cardiomyopathy def: "decreased function of the heart associated with cardiac enlargement and congestive heart failure" [ISBN:0-683-40008-8] subset: CvDC_Terms synonym: "congestive cardiomyopathy" EXACT [] xref: Fyler:1843 is_a: MP:0004937 ! dilated heart is_a: MP:0005330 ! cardiomyopathy [Term] id: MP:0002796 name: impaired skin barrier function def: "impaired ability of the skin to regulate water loss; frequently leads to dehydration" [J:56641] synonym: "increased TEWL" RELATED [https://en.wikipedia.org/wiki/Transepidermal_water_loss] synonym: "increased trans-epidermal water loss" RELATED [] synonym: "increased transepidermal water loss" RELATED [PMID:16761956] synonym: "increased TWL" RELATED [https://en.wikipedia.org/wiki/Transepidermal_water_loss] is_a: MP:0001784 ! abnormal fluid regulation is_a: MP:0005501 ! abnormal skin physiology [Term] id: MP:0002797 name: increased thigmotaxis def: "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" [https://orcid.org/0000-0003-4606-0597, J:56814] is_a: MP:0001363 ! increased anxiety-related response [Term] id: MP:0002798 name: abnormal active avoidance behavior def: "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" [MGI:CFG] synonym: "abnormal active avoidance behaviour" EXACT [] synonym: "active avoidance anomalies" EXACT [] is_a: MP:0001462 ! abnormal avoidance learning behavior [Term] id: MP:0002799 name: abnormal passive avoidance behavior def: "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" [MGI:CFG] synonym: "abnormal inhibitory avoidance behavior" EXACT [] synonym: "abnormal inhibitory avoidance behaviour" EXACT [] synonym: "abnormal passive avoidance behaviour" EXACT [] synonym: "passive avoidance anomalies" EXACT [] is_a: MP:0001462 ! abnormal avoidance learning behavior [Term] id: MP:0002800 name: abnormal short-term object recognition memory def: "anomaly in the short-term memory for objects is established during the first few minutes after training" [MGI:CFG] synonym: "abnormal short term object recognition memory" EXACT [] synonym: "short-term recognition memory abnormalities" EXACT [] is_a: MP:0001458 ! abnormal object recognition memory is_a: MP:0001468 ! abnormal temporal memory [Term] id: MP:0002801 name: abnormal long-term object recognition memory def: "anomaly in long-term memory for objects that is consolidated over hours and days after training" [MGI:CFG] synonym: "abnormal long term object recognition memory" EXACT [] synonym: "long-term recognition memory abnormalities" EXACT [] is_a: MP:0001458 ! abnormal object recognition memory is_a: MP:0001468 ! abnormal temporal memory [Term] id: MP:0002802 name: abnormal discrimination learning def: "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" [MGI:CFG] synonym: "discrimination learning abnormalities" EXACT [] is_a: MP:0002063 ! abnormal learning/memory/conditioning [Term] id: MP:0002803 name: abnormal operant conditioning behavior def: "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" [MGI:CFG] synonym: "abnormal operant conditional behavior" RELATED [] synonym: "abnormal operant conditional behaviour" RELATED [] synonym: "abnormal operant conditioning behaviour" EXACT [] synonym: "operant conditional abnormalities" EXACT [] is_a: MP:0002062 ! abnormal associative learning [Term] id: MP:0002804 name: abnormal motor learning def: "anomaly in the ability to repeat a motor task requiring well coordinated movements and balance; measures cerebellar dependent learning" [MGI:CFG] synonym: "motor learning abnormalities" EXACT [] is_a: MP:0002063 ! abnormal learning/memory/conditioning [Term] id: MP:0002805 name: abnormal conditioned taste aversion behavior def: "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" [MGI:CFG] synonym: "abnormal conditioned taste aversion behaviour" EXACT [] synonym: "conditioned taste aversion anomalies" EXACT [] is_a: MP:0001462 ! abnormal avoidance learning behavior [Term] id: MP:0002806 name: abnormal conditioned emotional response def: "anomaly in an emotional response that has been acquired by conditioning" [MGI:CFG] synonym: "conditioned emotional response anomalies" EXACT [] is_a: MP:0002062 ! abnormal associative learning [Term] id: MP:0002807 name: abnormal eye blink conditioning behavior def: "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" [MGI:CFG] synonym: "abnormal eye blink conditioning behaviour" EXACT [] synonym: "eye blink conditioning anomalies" EXACT [] is_a: MP:0002062 ! abnormal associative learning [Term] id: MP:0002808 name: abnormal barbering behavior def: "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" [ISBN:0-471-31639-3, PMID:16236465] comment: This is a rodent specific behavior. Whisker trimming and barbering are either normal or abnormal depending on the mouse strain. Barbering is particularly common in C57BL/6 and A2G but nearly unseen in other strains. This term should always be used in relation to the control and strain should be specified. synonym: "abnormal barbering behaviour" EXACT [] synonym: "Dalila effect" RELATED [] synonym: "hair biting" EXACT [] synonym: "hair pulling" EXACT [] is_a: MP:0001440 ! abnormal grooming behavior [Term] id: MP:0002809 name: increased spinal cord size def: "larger appearance of the spinal cord" [J:83935] synonym: "enlarged spinal cord size" EXACT [] is_a: MP:0000955 ! abnormal spinal cord morphology [Term] id: MP:0002810 name: microcytic anemia def: "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" [ISBN:0-683-40008-8] synonym: "microcytic anaemia" EXACT [] is_a: MP:0001577 ! anemia [Term] id: MP:0002811 name: macrocytic anemia def: "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" [ISBN:0-683-40008-8] synonym: "macrocytic anaemia" EXACT [] is_a: MP:0001577 ! anemia [Term] id: MP:0002812 name: spherocytosis def: "the presence of sphere-shaped erythrocytes in the circulating blood" [ISBN:0-683-40008-8] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0002813 name: microcytosis def: "the presence of unusually small erythrocytes in the circulating blood" [ISBN:0-683-40008-8] synonym: "microcythemia" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0002814 name: hyperchromasia def: "increased capacity of a cell to stain with dye; usually refers to staining of cell nuclei with hematoxylin" [ISBN:0-683-40008-8] synonym: "hyperchromatism" EXACT [] is_a: MP:0002447 ! abnormal erythrocyte morphology [Term] id: MP:0002816 name: colitis def: "local accumulation of fluid, plasma proteins, and leukocytes in the colon region of the large intestine" [ISBN:0-683-40008-8] is_a: MP:0003304 ! large intestinal inflammation [Term] id: MP:0002817 name: abnormal tooth mineralization def: "abnormalities in the process by which calcium salts are deposited into the dental enamel, dentin and cementum" [MESH:G07.700.320.186.710] synonym: "abnormal tooth calcification" NARROW [] synonym: "tooth mineralization defects" EXACT [] is_a: MP:0000116 ! abnormal tooth development is_a: MP:0003930 ! abnormal tooth hard tissue morphology [Term] id: MP:0002818 name: abnormal dentin morphology def: "any structural anomaly in the hard portion of the tooth surrounding the pulp, covered by enamel on the crown and cementum on the root" [MESH:A14.549.167.900.280] synonym: "abnormal dentin" BROAD [] synonym: "dentin abnormalities" BROAD [] synonym: "dentine abnormalities" BROAD [] is_a: MP:0003930 ! abnormal tooth hard tissue morphology [Term] id: MP:0002819 name: abnormal dental pulp cavity morphology def: "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" [https://www.ncbi.nlm.nih.gov/mesh/68003786, ISBN:0-683-40008-8] synonym: "abnormal tooth pulp cavity morphology" EXACT [] synonym: "dental pulp cavity abnormalities" EXACT [] is_a: MP:0002100 ! abnormal tooth morphology [Term] id: MP:0002820 name: abnormal premaxilla morphology def: "any structural anomaly of the anterior and inner portion of the maxilla" [ISBN:0-683-40008-8] synonym: "abnormal incisive bone morphology" EXACT [] synonym: "abnormal incisor bone morphology" EXACT [] synonym: "abnormal intermaxillary bone morphology" EXACT [] synonym: "abnormal premaxilla" BROAD [] synonym: "premaxilla dysplasia" BROAD [] is_a: MP:0000455 ! abnormal maxilla morphology [Term] id: MP:0002822 name: catalepsy def: "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" [ISBN:0-683-40008-8, MESH:C10.597.350.200] is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0002823 name: abnormal rib development def: "anomalous formation of the bones forming the bony wall of the chest" [https://orcid.org/0000-0002-0371-1954, J:84754] is_a: MP:0000150 ! abnormal rib morphology is_a: MP:0002113 ! abnormal skeleton development [Term] id: MP:0002824 name: abnormal chorioallantoic fusion def: "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" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] subset: IMPC_Prenatal is_a: MP:0001712 ! abnormal placenta development [Term] id: MP:0002825 name: abnormal notochord morphology def: "any structural anomaly of the axial fibrocellular cord in embryos around which develops the vertebral primordia" [ISBN:0-683-40008-8] is_a: MP:0002085 ! abnormal embryonic tissue morphology [Term] id: MP:0002826 name: tonic seizures def: "increased number or decreased threshold for the induction of a seizure characterized by muscle rigidity" [MGI:hdene] is_a: MP:0000947 ! convulsive seizures [Term] id: MP:0002827 name: abnormal renal corpuscle morphology def: "any structural anomaly of the structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron" [ISBN:0-683-40008-8] synonym: "abnormal cortical renal corpuscle morphology" EXACT [] synonym: "abnormal malphighian corpuscle morphology" EXACT [] is_a: MP:0000521 ! abnormal kidney cortex morphology is_a: MP:0003881 ! abnormal nephron morphology [Term] id: MP:0002828 name: abnormal renal glomerular capsule morphology def: "any structural anomaly of the expanded beginning of a nephron that contains the glomerulus" [https://orcid.org/0000-0002-0371-1954] synonym: "abnormal Bowman's capsule" EXACT [] synonym: "abnormal capsula glomeruli" EXACT [] synonym: "abnormal malphighian capsule" EXACT [] is_a: MP:0002827 ! abnormal renal corpuscle morphology [Term] id: MP:0002829 name: abnormal juxtaglomerular apparatus morphology def: "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" [https://orcid.org/0000-0002-0371-1954, MESH:A05.810.453.324.359.520] synonym: "juxtaglomerular complex morphology" EXACT [] is_a: MP:0000521 ! abnormal kidney cortex morphology [Term] id: MP:0002830 name: gallstones def: "caliculi in the gallbladder or a bile duct; chemical composition of cholesterol, calcium carbonate or calcium bilirubinate" [ISBN:0-683-40008-8, MESH:C06.130.409.633, MGI:il] synonym: "biliary caliculi" EXACT [] synonym: "cholelithiasis" EXACT [] synonym: "gall stone" EXACT [] is_a: MP:0005083 ! abnormal biliary tract morphology [Term] id: MP:0002831 name: absent Peyer's patches def: "lymphoid tissue missing from the mucosa of the small intestine" [MESH:A10.549.600] synonym: "absence of Peyer's patches" EXACT [] is_a: MP:0000696 ! abnormal Peyer's patch morphology [Term] id: MP:0002832 name: coarse hair def: "hair shafts that are twisted or coiled and are of uneven thickness produce an overall rugged or uneven appearance and roughness to the touch" [https://orcid.org/0000-0003-3691-0324, MGI:llw2] subset: IMPC subset: Sanger_Terms is_a: MP:0002074 ! abnormal hair texture [Term] id: MP:0002833 name: increased heart weight def: "greater than average weight of the heart compared to controls" [RGD:cur] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms is_a: MP:0000274 ! enlarged heart is_a: MP:0004857 ! abnormal heart weight [Term] id: MP:0002834 name: decreased heart weight def: "less than average weight of the heart compared to controls" [RGD:cur] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "reduced heart weight" EXACT [] is_a: MP:0002188 ! small heart is_a: MP:0004857 ! abnormal heart weight [Term] id: MP:0002835 name: abnormal cranial suture morphology def: "any structural anomaly of the dense, fibrous connective tissue joint between the bones of the head" [https://orcid.org/0000-0002-0371-1954, MESH:A02.835.232.781.200] synonym: "abnormal cranial sutures" EXACT [] is_a: MP:0000438 ! abnormal cranium morphology is_a: MP:0030229 ! abnormal craniofacial suture morphology [Term] id: MP:0002836 name: abnormal chorion morphology def: "any structural anomaly of the outermost extraembryonic membrane" [MESH:A10.615.284.473] is_a: MP:0002086 ! abnormal extraembryonic tissue morphology [Term] id: MP:0002837 name: dystrophic cardiac calcinosis def: "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" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "calcified heart" EXACT [] synonym: "dystrophic cardiac cutis" EXACT [] synonym: "heart calcification" EXACT [] is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0002838 name: decreased susceptibility to dystrophic cardiac calcinosis def: "less likely to be stricken by dystrophic cardiac calcinosis" [MGI:il] synonym: "increased resistance to dystrophic cardiac calcinosis" EXACT [] is_a: MP:0002837 ! dystrophic cardiac calcinosis [Term] id: MP:0002839 name: increased susceptibility to dystrophic cardiac calcinosis def: "more likely to be stricken by dystrophic cardiac calcinosis" [MGI:il] synonym: "decreased resistance to dystrophic cardiac calcinosis" EXACT [] is_a: MP:0002837 ! dystrophic cardiac calcinosis [Term] id: MP:0002840 name: abnormal lens fiber morphology def: "any structural anomaly of the elongated cells of the crystalline lens of the eye" [ISBN:0-683-40008-8] synonym: "abnormal lens fibre morphology" EXACT [] is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0002841 name: impaired skeletal muscle contractility alt_id: MP:0000739 def: "inability or reduced ability of the skeletal muscle to shorten or to develop increased tension" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] synonym: "impaired striated muscle contractility" EXACT [] is_a: MP:0000738 ! impaired muscle contractility [Term] id: MP:0002842 name: increased systemic arterial blood pressure def: "increased tension of the blood within the systemic arteries" [https://orcid.org/0000-0003-3691-0324] synonym: "high blood pressure" EXACT [] is_a: MP:0000230 ! abnormal systemic arterial blood pressure [Term] id: MP:0002843 name: decreased systemic arterial blood pressure def: "decreased tension of the blood within the systemic arteries" [https://orcid.org/0000-0003-3691-0324] synonym: "low blood pressure" EXACT [] synonym: "reduced blood pressure" EXACT [] is_a: MP:0000230 ! abnormal systemic arterial blood pressure [Term] id: MP:0002844 name: aortic hypertrophy def: "increase in the bulk size of the aorta" [RGD:cur] is_a: MP:0000272 ! abnormal aorta morphology [Term] id: MP:0002845 name: abnormal aortic weight def: "anomaly in the average weight of the aorta" [RGD:cur] synonym: "abnormal aorta weight" EXACT [] is_a: MP:0000272 ! abnormal aorta morphology [Term] id: MP:0002846 name: abnormal aortic mass def: "altered physical volume or bulk of the aorta" [RGD:cur] is_a: MP:0000272 ! abnormal aorta morphology [Term] id: MP:0002847 name: abnormal renal glomerular filtration rate def: "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" [GO:0003094] synonym: "abnormal GFR" EXACT [] synonym: "abnormal kidney glomerular filtration rate" EXACT [] is_a: MP:0013284 ! abnormal renal glomerular filtration [Term] id: MP:0002848 name: obsolete increased surface glomeruli def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0002849 name: abnormal saccharin consumption def: "anomaly in the amount of saccharin consumed in relation to other food" [RGD:cur] is_a: MP:0005449 ! abnormal food intake [Term] id: MP:0002850 name: saccharin preference def: "subjects demonstrate predilection for saccharine over other offered substance" [RGD:cur] is_a: MP:0011976 ! sweet preference [Term] id: MP:0002851 name: abnormal circulating sulfate level def: "altered concentration of sulfate in the blood" [https://orcid.org/0000-0002-0371-1954] is_a: MP:0006357 ! abnormal circulating mineral level is_a: MP:0020891 ! abnormal sulfate level [Term] id: MP:0002852 name: hypersulfatemia def: "abnormally high concentration of sulfate in the circulating blood" [J:86561] synonym: "hypersulfataemia" EXACT [] synonym: "hypersulphataemia" EXACT [] is_a: MP:0002851 ! abnormal circulating sulfate level is_a: MP:0014547 ! increased circulating mineral level [Term] id: MP:0002853 name: hyposulfatemia def: "abnormally low concentration of sulfate in the circulating blood" [J:86561] synonym: "hyposulfataemia" EXACT [] synonym: "hyposulphataemia" EXACT [] is_a: MP:0002851 ! abnormal circulating sulfate level is_a: MP:0014548 ! decreased circulating mineral level [Term] id: MP:0002855 name: abnormal cochlear ganglion morphology def: "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)" [ISBN:0-683-40008-8] synonym: "abnormal auditory ganglion" EXACT [] synonym: "abnormal cochlear ganglia morphology" EXACT [] synonym: "abnormal Corti ganglion" EXACT [] synonym: "abnormal spiral ganglion of vestibulocochlear (VIII) nerve" EXACT [] synonym: "cranial ganglion VIII" BROAD [] is_a: MP:0000960 ! abnormal sensory ganglion morphology is_a: MP:0001081 ! abnormal cranial ganglia morphology [Term] id: MP:0002856 name: abnormal vestibular ganglion morphology def: "any structural anomaly of the group of neurons associated with the vestibular part of the eighth cranial nerve that are involved in equilibration" [ISBN:0-683-40008-8] synonym: "abnormal Scarpa ganglion" EXACT [] synonym: "abnormal vestibular ganglia morphology" EXACT [] synonym: "abnormal vestibular ganglion of the vestibulocochlear (VIII) nerve" EXACT [] synonym: "cranial ganglion VIII" BROAD [] is_a: MP:0001081 ! abnormal cranial ganglia morphology [Term] id: MP:0002857 name: cochlear ganglion degeneration def: "loss of neural cell bodies in the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain" [ISBN:0-683-40008-8] synonym: "degeneration of cochlear ganglion" EXACT [] synonym: "degeneration of spiral ganglion" EXACT [] is_a: MP:0002855 ! abnormal cochlear ganglion morphology [Term] id: MP:0002858 name: abnormal posterior semicircular canal morphology def: "any structural anomaly of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance" [ISBN:0-683-40008-8] is_a: MP:0002428 ! abnormal semicircular canal morphology [Term] id: MP:0002859 name: abnormal inner ear canal fusion def: "any structural anomaly or mistiming of the fusion of the canal primordia during development" [J:75619] synonym: "abnormal canal fusion" RELATED [] is_a: MP:0002729 ! abnormal inner ear canal morphology [Term] id: MP:0002861 name: abnormal tail bud morphology def: "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" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002085 ! abnormal embryonic tissue morphology is_a: MP:0006281 ! abnormal tail development [Term] id: MP:0002862 name: abnormal righting response def: "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" [ISBN:0-683-40008-8, MGI:hdene] subset: Europhenome_Terms subset: IMPC synonym: "altered righting response" EXACT [] is_a: MP:0001516 ! abnormal motor coordination/balance is_a: MP:0002980 ! abnormal postural reflex [Term] id: MP:0002863 name: improved righting response def: "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" [ISBN:0-683-40008-8] is_a: MP:0002862 ! abnormal righting response [Term] id: MP:0002864 name: abnormal ocular fundus morphology def: "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" [MESH:A09.371.729.313] subset: Europhenome_Terms subset: IMPC synonym: "abnormal fundus oculus" EXACT [] is_a: MP:0005195 ! abnormal posterior eye segment morphology [Term] id: MP:0002865 name: increased growth rate def: "reduced length of time to reach a developmental stage or stages" [J:32208, MGI:il] is_a: MP:0001731 ! abnormal postnatal growth [Term] id: MP:0002866 name: abnormal glutamic acid decarboxylase level def: "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" [MESH:D08.811.520.224.125.250, RGD:cur] synonym: "abnormal GAD level" EXACT [] synonym: "abnormal glutamate decarboxylase level" EXACT [] is_a: MP:0005319 ! abnormal enzyme/coenzyme level [Term] id: MP:0002867 name: increased glutamic acid decarboxylase level def: "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" [MESH:D08.811.520.224.125.250, RGD:cur] synonym: "increased GAD level" EXACT [] synonym: "increased glutamate decarboxylase level" EXACT [] is_a: MP:0002866 ! abnormal glutamic acid decarboxylase level is_a: MP:0014448 ! increased enzyme/coenzyme level [Term] id: MP:0002868 name: decreased glutamic acid decarboxylase level def: "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" [MESH:D08.811.520.224.125.250, RGD:cur] synonym: "decreased GAD level" RELATED [] synonym: "decreased glutamate decarboxylase level" EXACT [] synonym: "reduced glutamate decarboxylase level" EXACT [] synonym: "reduced glutamic acid decarboxylase level" EXACT [] is_a: MP:0002866 ! abnormal glutamic acid decarboxylase level is_a: MP:0014449 ! decreased enzyme/conezyme level [Term] id: MP:0002869 name: increased anti-insulin autoantibody level def: "elevated level of antibodies to insulin present in the sera" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0003725 ! increased autoantibody level [Term] id: MP:0002870 name: decreased anti-insulin autoantibody level def: "reduced level of antibodies to insulin present in the sera" [https://orcid.org/0000-0003-3691-0324] synonym: "reduced anti-insulin autoantibody level" EXACT [] is_a: MP:0003726 ! decreased autoantibody level [Term] id: MP:0002871 name: albuminuria alt_id: MP:0005539 def: "presence of excess albumin in the urine" [ISBN:0-683-40008-8, RGD:cur] synonym: "increased albumin excretion" EXACT [] synonym: "increased urine albumin level" EXACT [] is_a: MP:0002962 ! increased urine protein level [Term] id: MP:0002872 name: polycythemia def: "an excess of circulating red blood cells" [ISBN:0-683-40008-8, MESH:C15.378.738] synonym: "increased circulating red blood cell number" EXACT [] synonym: "polycythaemia" EXACT [] is_a: MP:0003131 ! increased erythrocyte cell number [Term] id: MP:0002873 name: normal phenotype def: "no phenotypic distinctions from controls" [https://orcid.org/0000-0003-4606-0597] comment: grouping class, not used for annotations synonym: "fertile" RELATED [] synonym: "viable" RELATED [] is_a: MP:0000001 ! mammalian phenotype [Term] id: MP:0002874 name: decreased hemoglobin content def: "decrease in the total hemoglobin content in the circulating blood" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased haemoglobin content" EXACT [] synonym: "reduced haemoglobin content" EXACT [] synonym: "reduced hemoglobin content" EXACT [] is_a: MP:0005563 ! abnormal hemoglobin content [Term] id: MP:0002875 name: decreased erythrocyte cell number def: "reduced number of the cells that transport oxygen, red blood cells, per unit" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased definitive erythrocyte cell number" EXACT [] synonym: "decreased erythrocyte count" EXACT [] synonym: "decreased RBC count" EXACT [] synonym: "decreased red blood cell count" EXACT [] synonym: "erythrocytopenia" EXACT [] synonym: "erythropenia" EXACT [] synonym: "reduced definitive erythrocyte cell number" EXACT [] synonym: "reduced erythrocyte cell number" EXACT [] synonym: "reduced erythrocyte count" EXACT [] synonym: "reduced RBC count" EXACT [] synonym: "reduced red blood cell count" RELATED [] is_a: MP:0001586 ! abnormal erythrocyte cell number is_a: MP:0013662 ! decreased myeloid cell number [Term] id: MP:0002876 name: abnormal thyroid gland physiology def: "any functional anomaly of this endocrine gland that normally produces hormones that regulate the metabolic rate of the body" [MESH:A06.407.900] synonym: "abnormal thyroid function" EXACT [] synonym: "abnormal thyroid physiology" EXACT [] is_a: MP:0013561 ! abnormal endocrine gland physiology [Term] id: MP:0002877 name: abnormal melanocyte morphology def: "any structural anomaly of the cells that produce pigment" [ISBN:0-683-40008-8] comment: Note that significant differences exist among populations of melanocytes that populate the cutaneous tissue compared to melanocytes that populate ocular, auditory, and internal body sites. Extracutaneous melanotcytes synthesize melanosomes and melanin only during a short interval after arriving in their target tissue, and they retain their melanosomes throughout the life of the organism instead of transferring to neighboring cells like dermal melanocytes. General morphology and ultrastructure of extracutaneous melanocytes vary and also differ from cutaneous melanocytes. subset: IMPC subset: Sanger_Terms synonym: "abnormal melanocytes" EXACT [] is_a: MP:0001186 ! pigmentation phenotype [Term] id: MP:0002878 name: abnormal corticospinal tract morphology def: "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" [ISBN:0-683-40008-8] synonym: "abnormal pyramidal tract morphology" EXACT [] is_a: MP:0000778 ! abnormal nervous system tract morphology [Term] id: MP:0002879 name: increased cellular sensitivity to X-ray irradiation def: "increased incidence of cell death following exposure to X-ray irradiation" [RGD:cur] synonym: "decreased cellular resistance to X-ray irradiation" EXACT [] synonym: "increased cellular susceptibility to X-ray irradiation" EXACT [] is_a: MP:0004227 ! increased cellular sensitivity to ionizing radiation [Term] id: MP:0002880 name: opisthotonus def: "a form of tetanic spasm in which the head, neck and spine are bent backward and the body is bowed forward" [ISBN:0-683-40008-8] comment: Stedman's Medical Dictionary states that both the -us and the -os spellings are correct and synonymous. synonym: "opisthotonos" EXACT [] is_a: MP:0000743 ! muscle spasm is_a: MP:0003492 ! abnormal involuntary movement [Term] id: MP:0002881 name: long hair def: "increased average length of the coat hairs" [https://orcid.org/0000-0003-3691-0324] subset: IMPC subset: Sanger_Terms synonym: "increased hair length" EXACT [] is_a: MP:0002073 ! abnormal hair growth [Term] id: MP:0002882 name: abnormal neuron morphology def: "any structural anomaly of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:A08.663] synonym: "neuron dysplasia" EXACT [] is_a: MP:0003632 ! abnormal nervous system morphology [Term] id: MP:0002883 name: chromatolysis def: "the dissolution of the granules of chromophil substance in a nerve cell body that may occur in injured cells or axons" [MGI:dlb] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0002884 name: abnormal pharyngeal arch morphology def: "any structural anomaly of the transient structures of the embryo that develop into regions of the head, neck and ears" [https://orcid.org/0000-0003-3691-0324] subset: IMPC_Prenatal synonym: "abnormal branchial arch morphology" EXACT [] synonym: "abnormal branchial arches" EXACT [] synonym: "abnormal pharyngeal arches" EXACT [] is_a: MP:0002085 ! abnormal embryonic tissue morphology is_a: MP:0003935 ! abnormal craniofacial development [Term] id: MP:0002885 name: abnormal AMPA-mediated synaptic currents def: "change in the measured amplitude, current density or duration of response to stimulation of AMPA receptors" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002886 ! abnormal glutamate-mediated receptor currents [Term] id: MP:0002886 name: abnormal glutamate-mediated receptor currents def: "change in the measured amplitude, current density or duration of response to stimulation of glutamatergic receptors" [ISBN:0838580343] synonym: "abnormal glutamate receptor currents" EXACT [] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0002887 name: decreased susceptibility to pharmacologically induced seizures def: "ability to withstand doses of pharmacological drugs that induce seizure activity in normal animals; exhibit a higher threshold to induce seizure activity" [https://orcid.org/0000-0003-3691-0324] synonym: "increased resistance to pharmacologically induced seizures" RELATED [] synonym: "resistance to pharmacologically induced seizures" EXACT [] is_a: MP:0000950 ! abnormal seizure response to pharmacological agent is_a: MP:0012348 ! decreased susceptibility to induction of seizure by inducing agent [Term] id: MP:0002888 name: abnormal NMDA-mediated synaptic currents def: "change in the measured amplitude, current density or duration of response to stimulation of NMDA receptors" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002886 ! abnormal glutamate-mediated receptor currents [Term] id: MP:0002891 name: increased insulin sensitivity def: "greater ability to clear glucose from the bloodstream when given insulin than normal; can result in hypoglycemia" [RGD:cur] is_a: MP:0002078 ! abnormal glucose homeostasis [Term] id: MP:0002892 name: decreased superior colliculus size def: "decreased size of the paired superior eminence of the mesencephalic tectum" [https://orcid.org/0000-0003-3691-0324] synonym: "decreased anterior quadrigeminal body size" EXACT [] synonym: "decreased corpora quadrigeminum posterius anterius size" EXACT [] synonym: "decreased size of superior colliculus" EXACT [] synonym: "reduced size of superior colliculus" EXACT [] synonym: "reduced superior colliculus size" EXACT [] is_a: MP:0000904 ! abnormal superior colliculus morphology [Term] id: MP:0002893 name: ketoaciduria def: "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" [ISBN:0-683-40008-8] synonym: "increased urine ketone body level" EXACT [] synonym: "ketonuria" EXACT [] is_a: MP:0010028 ! aciduria [Term] id: MP:0002894 name: abnormal otolith morphology def: "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)" [ISBN:0-683-40008-8, MGI:llw2] synonym: "abnormal ear crystals" EXACT [] synonym: "abnormal otoconia" EXACT [] synonym: "abnormal otoconial crystal morphology" EXACT [] synonym: "abnormal otoliths" RELATED [] synonym: "abnormal statoconia" EXACT [] synonym: "abnormal statoliths" EXACT [] is_a: MP:0002895 ! abnormal otolithic membrane morphology [Term] id: MP:0002895 name: abnormal otolithic membrane morphology def: "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)" [https://orcid.org/0000-0002-6490-7723, MESH:A09.246.631.909.625.125.680] synonym: "abnormal membrana statoconiorum" BROAD [] synonym: "abnormal octoconial membrane morphology" EXACT [] synonym: "abnormal otolithic part of statoconial membrane morphology" EXACT [] is_a: MP:0004427 ! abnormal vestibular labyrinth morphology [Term] id: MP:0002896 name: abnormal bone mineralization def: "defect in the process by which minerals are deposited into bone" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC is_a: MP:0008271 ! abnormal bone ossification [Term] id: MP:0002897 name: blotchy skin def: "regions of spotted discoloration appearing in the dermal tissue" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0009931 ! abnormal skin appearance [Term] id: MP:0002898 name: absent cartilage def: "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" [ISBN:0-683-40008-8] is_a: MP:0000163 ! abnormal cartilage morphology [Term] id: MP:0002899 name: fatigue def: "easily exhausted due to mental or physical exertion" [ISBN:0-683-40008-8, MGI:hdene] synonym: "fatigability" EXACT [] synonym: "fatigable" EXACT [] is_a: MP:0004924 ! abnormal behavior [Term] id: MP:0002900 name: abnormal urine phosphate level def: "any change in the amount of phosphate in the urine" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0002901 name: increased urine phosphate level def: "an increase in phosphate amount in the urine" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] synonym: "hyperphosphaturia" EXACT [] synonym: "increased urinary phosphate level" EXACT [] is_a: MP:0002900 ! abnormal urine phosphate level [Term] id: MP:0002902 name: decreased urine phosphate level def: "reduced phosphate amount in the urine" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] synonym: "hypophosphaturia" EXACT [] synonym: "reduced urine phosphate level" EXACT [] is_a: MP:0002900 ! abnormal urine phosphate level [Term] id: MP:0002903 name: abnormal circulating parathyroid hormone level def: "anomaly in the blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body" [https://orcid.org/0000-0002-0371-1954, MESH:D06.472.699.590] synonym: "abnormal circulating level of parathyroid hormone" EXACT [] synonym: "abnormal circulating PTH level" EXACT [] is_a: MP:0005418 ! abnormal circulating hormone level [Term] id: MP:0002904 name: increased circulating parathyroid hormone level def: "greater blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body" [https://orcid.org/0000-0002-0371-1954, MESH:D06.472.699.590] synonym: "increased circulating level of parathyroid hormone" EXACT [] synonym: "increased circulating PTH level" EXACT [] is_a: MP:0002903 ! abnormal circulating parathyroid hormone level is_a: MP:0014456 ! increased circulating hormone level [Term] id: MP:0002905 name: decreased circulating parathyroid hormone level def: "reduction in the blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body" [https://orcid.org/0000-0002-0371-1954, MESH:D06.472.699.590] synonym: "decreased circulating level of parathyroid hormone" EXACT [] synonym: "decreased circulating PTH level" EXACT [] synonym: "reduced circulating parathyroid hormone level" EXACT [] is_a: MP:0002903 ! abnormal circulating parathyroid hormone level is_a: MP:0014457 ! decreased circulating hormone level [Term] id: MP:0002906 name: increased susceptibility to pharmacologically induced seizures def: "inability to withstand doses of pharmacological drugs that induce seizure activity in normal animals; exhibit a lower threshold to induce seizure activity" [https://orcid.org/0000-0003-3691-0324] synonym: "decreased resistance to pharmacologically induced seizures" EXACT [] synonym: "susceptibility to pharmacologically induced seizures" RELATED [] is_a: MP:0000950 ! abnormal seizure response to pharmacological agent is_a: MP:0012349 ! increased susceptibility to induction of seizure by inducing agent [Term] id: MP:0002907 name: abnormal parturition def: "defect in the process of labor and delivery in female animals" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "abnormal childbirth" NARROW [] is_a: MP:0009661 ! abnormal pregnancy [Term] id: MP:0002908 name: delayed wound healing def: "longer time requirement for the ability to self-repair and close wounds than normal" [J:63037] is_a: MP:0005023 ! abnormal wound healing [Term] id: MP:0002909 name: abnormal adrenal gland physiology def: "any functional anomaly of the suprarenal gland, including the ability to produce and secrete hormones" [MGI:hdene] synonym: "abnormal adrenal gland function" EXACT [] synonym: "abnormal adrenal physiology" RELATED [] is_a: MP:0013561 ! abnormal endocrine gland physiology [Term] id: MP:0002910 name: abnormal excitatory postsynaptic currents def: "any anomaly in the size or duration of currents detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization" [ISBN:0838580343] synonym: "abnormal EPSCs" EXACT [] synonym: "abnormal excitatory post-synaptic currents" EXACT [] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0002911 name: abnormal inhibitory postsynaptic potential def: "defect in the membrane potential detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization" [ISBN:0838580343] synonym: "abnormal inhibitory post-synaptic potential" EXACT [] synonym: "abnormal IPSP" EXACT [] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0002912 name: abnormal excitatory postsynaptic potential def: "defect in the potential detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization" [ISBN:0838580343] synonym: "abnormal EPSP" EXACT [] synonym: "abnormal excitatory post-synaptic potential" EXACT [] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0002913 name: abnormal PNS synaptic transmission def: "defect in the communication from a neuron to a target across a synapse in the peripheral nervous system" [MESH:G04.335.880.850] is_a: MP:0003635 ! abnormal synaptic transmission [Term] id: MP:0002914 name: abnormal endplate potential def: "defect in the excitatory response of peripheral synapses to stimulation; these amplitudes are larger than central synapse potentials" [ISBN:0838580343] synonym: "abnormal end plate potential activity" EXACT [] synonym: "abnormal EPP activity" EXACT [] is_a: MP:0002913 ! abnormal PNS synaptic transmission [Term] id: MP:0002915 name: abnormal synaptic depression def: "changes in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation" [ISBN:0838580343] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0002916 name: increased synaptic depression def: "increase in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation" [ISBN:0838580343] is_a: MP:0002915 ! abnormal synaptic depression [Term] id: MP:0002917 name: decreased synaptic depression def: "decrease in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation" [ISBN:0838580343] synonym: "reduced synaptic depression" EXACT [] is_a: MP:0002915 ! abnormal synaptic depression [Term] id: MP:0002918 name: abnormal paired-pulse facilitation def: "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" [ISBN:0838580343] synonym: "abnormal paired pulse facilitation" EXACT [] synonym: "abnormal PPF" EXACT [] is_a: MP:0003635 ! abnormal synaptic transmission [Term] id: MP:0002919 name: enhanced paired-pulse facilitation def: "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" [ISBN:0838580343] synonym: "enhanced paired pulse facilitation" EXACT [] synonym: "enhanced PPF" EXACT [] is_a: MP:0002918 ! abnormal paired-pulse facilitation [Term] id: MP:0002920 name: decreased paired-pulse facilitation def: "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" [ISBN:0838580343] synonym: "decreased paired pulse facilitation" EXACT [] synonym: "reduced paired-pulse facilitation" EXACT [] synonym: "reduced PPF" EXACT [] is_a: MP:0002918 ! abnormal paired-pulse facilitation [Term] id: MP:0002921 name: abnormal post-tetanic potentiation def: "defects in the size or duration of potentials that persist after tetanic stimulation of central synapses" [ISBN:0838580343] synonym: "abnormal post-tetanic potential" RELATED [] synonym: "abnormal PTP" EXACT [] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0002922 name: decreased post-tetanic potentiation def: "reduction in the size or duration of potentials that persist after tetanic stimulation of central synapses" [ISBN:0838580343] synonym: "decreased post-tetanic potential" RELATED [] synonym: "decreased PTP" EXACT [] synonym: "reduced post-tetanic potential" EXACT [] is_a: MP:0002921 ! abnormal post-tetanic potentiation [Term] id: MP:0002923 name: increased post-tetanic potentiation def: "increase in the size or duration of potentials that persist after tetanic stimulation of central synapses" [ISBN:0838580343] synonym: "increased post-tetanic potential" RELATED [] synonym: "increased PTP" EXACT [] is_a: MP:0002921 ! abnormal post-tetanic potentiation [Term] id: MP:0002924 name: delayed CNS synapse formation def: "increase in time required to complete the process of generating connections between an axon and effector tissue or neuron" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0004996 ! abnormal CNS synapse formation [Term] id: MP:0002925 name: abnormal cardiovascular development def: "aberrant formation or incomplete differentiation of the cardiovascular system" [RGD:cur] subset: IMPC_Prenatal is_a: MP:0002127 ! abnormal cardiovascular system morphology [Term] id: MP:0002926 name: aganglionic megacolon def: "extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus" [ISBN:0-683-40008-8, RGD:cur] is_a: MP:0002731 ! megacolon [Term] id: MP:0002927 name: toxic megacolon def: "severe non-obstructive dilation of the colon" [ISBN:0-683-40008-8, RGD:cur] is_a: MP:0002731 ! megacolon [Term] id: MP:0002928 name: abnormal bile duct morphology def: "any structural anomaly of the channels that secrete bile from the liver to the gall bladder and intestines" [MESH:A03.159.183, RGD:cur] synonym: "abnormal bile duct" EXACT [] synonym: "bile duct dysplasia" EXACT [] is_a: MP:0002163 ! abnormal gland morphology is_a: MP:0005083 ! abnormal biliary tract morphology [Term] id: MP:0002929 name: abnormal bile duct development def: "incomplete or aberrant differentiation of the channels that secrete bile from the liver to the gall bladder and intestines" [MESH:A03.159.183, RGD:cur] is_a: MP:0002928 ! abnormal bile duct morphology is_a: MP:0003943 ! abnormal hepatobiliary system development [Term] id: MP:0002930 name: obsolete hair cell degeneration def: "OBSOLETE. a retrogressive impairment of function, destruction or apoptosis of the sensory epithelial cells of the inner ear" [ISBN:0-683-40008-8, RGD:cur] is_obsolete: true consider: MP:0004324 consider: MP:0004362 [Term] id: MP:0002931 name: glutaricadicuria def: "an accumulation of an intermediate of tryptophan catabolism in the urine" [ISBN:0-683-40008-8, RGD:cur] synonym: "glutaric aciduria" EXACT [] is_a: MP:0030613 ! dicarboxylic aciduria [Term] id: MP:0002932 name: abnormal joint morphology def: "any structural anomaly of the moveable articulation point of two or more bones" [ISBN:0-683-40008-8, RGD:cur] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "joint dysplasia" EXACT [] is_a: MP:0005508 ! abnormal skeleton morphology [Term] id: MP:0002933 name: joint inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the joints" [RGD:cur] synonym: "synovitis" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0031169 ! abnormal joint physiology [Term] id: MP:0002934 name: acute joint inflammation def: "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" [RGD:cur] is_a: MP:0002498 ! abnormal acute inflammation is_a: MP:0002933 ! joint inflammation [Term] id: MP:0002935 name: chronic joint inflammation def: "persistent inflammatory response in the joints, often caused by persistent infection or during an autoimmune response" [RGD:cur] is_a: MP:0002499 ! chronic inflammation is_a: MP:0002933 ! joint inflammation [Term] id: MP:0002936 name: joint swelling def: "enlargement of the joints, usually due to an accumulation of fluid" [RGD:cur] is_a: MP:0001785 ! edema is_a: MP:0002932 ! abnormal joint morphology [Term] id: MP:0002937 name: synovial hyperemia def: "an increased blood flow to a synovial joint" [ISBN:0-683-40008-8, RGD:cur] synonym: "synovial hyperaemia" EXACT [] is_a: MP:0030804 ! abnormal synovial joint morphology [Term] id: MP:0002938 name: white spotting def: "the appearance of patches of white fur" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002075 ! abnormal coat/hair pigmentation [Term] id: MP:0002939 name: head spot def: "the appearance of a round area of white fur on the head" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002938 ! white spotting [Term] id: MP:0002940 name: variable body spotting alt_id: MP:0000369 def: "the appearance of patches of white fur at random on the coat" [https://orcid.org/0000-0003-3691-0324] synonym: "piebald" RELATED [] synonym: "variable white spotting" EXACT [] is_a: MP:0002938 ! white spotting [Term] id: MP:0002941 name: increased circulating alanine transaminase level def: "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" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "elevated alanine transaminase level" BROAD [] synonym: "elevated ALT level" BROAD [] synonym: "elevated circulating alanine transaminase level" EXACT [] synonym: "elevated glutamate pyruvate transaminase level" BROAD [] synonym: "elevated glutamic-pyruvic transaminase level" BROAD [] synonym: "elevated GPT level" BROAD [] synonym: "elevated SGPT level" NARROW [] synonym: "increased ALT level" BROAD [] synonym: "increased GPT level" BROAD [] synonym: "increased serum glutamate pyruvate transaminase level" NARROW [] synonym: "increased serum glutamic-pyruvic transaminase level" NARROW [] synonym: "increased SGPT level" NARROW [] is_a: MP:0001573 ! abnormal circulating alanine transaminase level is_a: MP:0014450 ! increased circulating enzyme level [Term] id: MP:0002942 name: decreased circulating alanine transaminase level def: "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" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased ALT level" BROAD [] synonym: "decreased GPT level" BROAD [] synonym: "decreased serum glutamate pyruvate transaminase level" NARROW [] synonym: "decreased serum glutamic-pyruvic transaminase level" NARROW [] synonym: "decreased SGPT level" NARROW [] synonym: "reduced alanine transaminase level" BROAD [] synonym: "reduced ALT level" BROAD [] synonym: "reduced circulating alanine transaminase level" EXACT [] synonym: "reduced glutamate pyruvate transaminase level" BROAD [] synonym: "reduced glutamic-pyruvic transaminase level" BROAD [] synonym: "reduced GPT level" BROAD [] synonym: "reduced SGPT level" NARROW [] is_a: MP:0001573 ! abnormal circulating alanine transaminase level is_a: MP:0014451 ! decreased circulating enzyme level [Term] id: MP:0002943 name: abnormal lactate dehydrogenase level def: "abnormal level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate" [MeSH:D08.811.682.047.551.400] synonym: "abnormal LDH level" EXACT [] is_a: MP:0005319 ! abnormal enzyme/coenzyme level [Term] id: MP:0002944 name: increased lactate dehydrogenase level def: "elevated level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate" [MeSH:D08.811.682.047.551.400] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "elevated lactate dehydrogenase level" EXACT [] synonym: "elevated LDH level" EXACT [] synonym: "increased LDH level" EXACT [] is_a: MP:0002943 ! abnormal lactate dehydrogenase level is_a: MP:0014448 ! increased enzyme/coenzyme level [Term] id: MP:0002945 name: abnormal inhibitory postsynaptic currents def: "defect in the size or duration of currents detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization" [https://orcid.org/0000-0003-3691-0324, ISBN:0838580343] synonym: "abnormal inhibitory post-synaptic currents" EXACT [] synonym: "abnormal IPSCs" EXACT [] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0002946 name: delayed axon extension def: "an increased amount of time required for an axon to extend from a neuron cell body and find the target" [GO:0048675, https://orcid.org/0000-0003-3691-0324] synonym: "delayed axon outgrowth" EXACT [] is_a: MP:0003651 ! abnormal axon extension [Term] id: MP:0002947 name: increased hemangioma incidence def: "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" [HP:0001028, https://orcid.org/0000-0003-3691-0324] synonym: "angioma" RELATED [] synonym: "haemangioma" RELATED [] synonym: "hemangioma" RELATED [] synonym: "increased angiomoma incidence" RELATED [] synonym: "increased haemangioma incidence" EXACT [] is_a: MP:0010273 ! increased classified tumor incidence [Term] id: MP:0002948 name: abnormal neuron specification def: "defects in the developmental patterning of neurons resulting in ectopic placement, decreased numbers or absence of mature neurons" [https://orcid.org/0000-0003-3691-0324, J:87948] synonym: "abnormal neuronal specification" EXACT [] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0002949 name: obsolete abnormal neural crest cells def: "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" [ISBN:0838580343] is_obsolete: true consider: MP:0009845 [Term] id: MP:0002950 name: abnormal neural crest cell migration def: "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" [ISBN:0838580343] synonym: "abnormal NCC migration" EXACT [] is_a: MP:0003091 ! abnormal cell migration is_a: MP:0012745 ! abnormal neural crest cell physiology [Term] id: MP:0002951 name: small thyroid gland def: "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" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] synonym: "decreased thyroid gland size" EXACT [] synonym: "reduced thyroid gland size" EXACT [] is_a: MP:0000681 ! abnormal thyroid gland morphology [Term] id: MP:0002952 name: ventricular cardiomyopathy def: "diseases of the ventricles of the heart" [MGI:cwg] is_a: MP:0005330 ! cardiomyopathy [Term] id: MP:0002953 name: thick ventricular wall def: "increased depth of the cardiac wall of the heart ventricles" [https://orcid.org/0000-0002-6490-7723] is_a: MP:0020135 ! abnormal heart ventricle wall thickness [Term] id: MP:0002954 name: obsolete abnormal aerobic energy metabolism alt_id: MP:0005622 def: "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" [ISBN:0-683-40008-8] synonym: "abnormal cell respiration" EXACT [] synonym: "abnormal mitochondrial energy production" EXACT [] synonym: "abnormal respiratory chain function" EXACT [] is_obsolete: true consider: MP:0010951 consider: MP:0010954 consider: MP:0010959 [Term] id: MP:0002955 name: increased compensatory renal growth def: "increased additional growth of a kidney upon removal of the other kidney through surgery or disease" [RGD:cur] is_a: MP:0002706 ! abnormal kidney size [Term] id: MP:0002956 name: decreased compensatory renal growth def: "decreased additional growth of a kidney upon removal of the other kidney through surgery or disease" [RGD:cur] synonym: "reduced compensatory renal growth" EXACT [] is_a: MP:0002706 ! abnormal kidney size [Term] id: MP:0002957 name: increased intestinal adenocarcinoma incidence def: "higher than normal incidence of a malignant neoplasm of epithelial cells in the intestine" [https://orcid.org/0000-0002-0371-1954] synonym: "intestinal adenocarcinoma" RELATED [] is_a: MP:0009308 ! increased adenocarcinoma incidence is_a: MP:0010279 ! increased gastrointestinal tumor incidence [Term] id: MP:0002958 name: cerebral aqueductal stenosis def: "abnormal narrowing or constriction of the cerebral aqueduct that blocks the flow of cerebrospinal fluid (CSF) in the ventricular system" [https://en.wikipedia.org/wiki/Aqueductal_stenosis] comment: Blockage of the cerebral aqueduct can lead to hydrocephalus, specifically as a common cause of congenital and/or obstructive hydrocephalus. {xref="https://www.chop.edu/conditions-diseases/hydrocephalus", comment="https://en.wikipedia.org/wiki/Aqueductal_stenosis"} synonym: "aqueduct of midbrain stenosis" EXACT [] synonym: "aqueduct of Sylvius stenosis" EXACT [] synonym: "aqueductal stenosis" EXACT [] synonym: "cerebral aqueduct stenosis" EXACT [] synonym: "mesencephalic duct stenosis" EXACT [] synonym: "stenosis of midbrain cerebral aqueduct" EXACT [] is_a: MP:0000917 ! obstructive hydrocephaly is_a: MP:0005537 ! abnormal cerebral aqueduct morphology [Term] id: MP:0002959 name: increased urine microalbumin level def: "greater than the normal amount of microalbumin in the urine" [RGD:cur] synonym: "increased microalbumin excretion" EXACT [] synonym: "microalbuminuria" EXACT [] is_a: MP:0002962 ! increased urine protein level [Term] id: MP:0002960 name: decreased urine microalbumin level def: "less than the normal amount of microalbumin in the urine" [https://orcid.org/0000-0003-3691-0324, RGD:cur] synonym: "decreased microalbumin excretion" EXACT [] synonym: "reduced microalbumin excretion" EXACT [] is_a: MP:0002963 ! decreased urine protein level [Term] id: MP:0002961 name: abnormal axon guidance def: "defect in the signaling mechanisms that allow precise navigation and connections of axonal growth cones to effector tissues" [ISBN:0838580343] is_a: MP:0009937 ! abnormal neuron differentiation [Term] id: MP:0002962 name: increased urine protein level alt_id: MP:0005160 def: "greater than the normal amount of proteins in the urine" [https://orcid.org/0000-0003-3691-0324, RGD:cur] synonym: "increased protein excretion" EXACT [] synonym: "proteinuria" RELATED [] is_a: MP:0006315 ! abnormal urine protein level [Term] id: MP:0002963 name: decreased urine protein level def: "less than the normal amount of proteins in the urine" [https://orcid.org/0000-0003-3691-0324, RGD:cur] synonym: "decreased protein excretion" EXACT [] synonym: "reduced protein excretion" EXACT [] is_a: MP:0006315 ! abnormal urine protein level [Term] id: MP:0002964 name: aortic elastic tissue lesions def: "focal pathological changes in the elastic lamella of the main trunk of the arterial system" [ISBN:0-683-40008-8, RGD:cur] is_a: MP:0009862 ! abnormal aorta elastic tissue morphology [Term] id: MP:0002965 name: increased circulating serum albumin level def: "blood serum albumin concentration above the normal range" [RGD:cur] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "hyperalbuminaemia" EXACT [] synonym: "hyperalbuminemia" EXACT [] is_a: MP:0000199 ! abnormal circulating serum albumin level is_a: MP:0014501 ! increased circulating protein level [Term] id: MP:0002966 name: decreased circulating alkaline phosphatase level alt_id: MP:0002967 def: "reduced concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters" [ISBN:0-683-40008-8, RGD:cur] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased circulating ALP level" EXACT [] synonym: "decreased plasma alkaline phosphatase level" NARROW [] synonym: "decreased serum alkaline phosphatase level" NARROW [] synonym: "reduced circulating alkaline phosphatase level" EXACT [] synonym: "reduced circulating ALP level" EXACT [] synonym: "reduced plasma alkaline phosphatase level" NARROW [] synonym: "reduced serum alkaline phosphatase level" NARROW [] is_a: MP:0000202 ! abnormal circulating alkaline phosphatase level is_a: MP:0014451 ! decreased circulating enzyme level [Term] id: MP:0002968 name: increased circulating alkaline phosphatase level alt_id: MP:0002775 def: "elevated concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters" [ISBN:0-683-40008-8, RGD:cur] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "elevated serum alkaline phosphatase level" NARROW [] synonym: "elevated serum AP level" NARROW [] synonym: "elevated serum level of alkaline phosphatase" NARROW [] synonym: "elevated serum level of AP" NARROW [] synonym: "increased circulating ALP level" EXACT [] synonym: "increased plasma alkaline phosphatase level" NARROW [] synonym: "increased serum alkaline phosphatase level" NARROW [] is_a: MP:0000202 ! abnormal circulating alkaline phosphatase level is_a: MP:0014450 ! increased circulating enzyme level [Term] id: MP:0002969 name: impaired social transmission of food preference def: "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" [PMID:10792055] is_a: MP:0012296 ! impaired discrimination learning [Term] id: MP:0002970 name: abnormal white adipose tissue morphology def: "any structural anomaly of the connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels" [ISBN:0-683-40008-8] synonym: "abnormal white fat morphology" RELATED [] is_a: MP:0000003 ! abnormal adipose tissue morphology [Term] id: MP:0002971 name: abnormal brown adipose tissue morphology def: "any structural anomaly of the thermogenic form of adipose tissue that is composed of brown adipocytes" [MESH:A10.165.114.322] synonym: "abnormal brown fat morphology" RELATED [] is_a: MP:0000003 ! abnormal adipose tissue morphology [Term] id: MP:0002972 name: abnormal cardiac muscle contractility def: "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" [ISBN:0-683-40008-8] synonym: "abnormal fractional shortening (FS)" NARROW [] synonym: "abnormal peak of aortic outflow velocity (PAV)" NARROW [] synonym: "abnormal velocity of circumferential fiber shortening (Vcfc)" NARROW [] synonym: "abnormal velocity of circumferential fibre shortening (Vcfc)" NARROW [] synonym: "abnormal ventricular ejection fraction volume" NARROW [] is_a: MP:0001544 ! abnormal cardiovascular system physiology is_a: MP:0005620 ! abnormal muscle contractility [Term] id: MP:0002975 name: vascular smooth muscle hypertrophy def: "increase in size or thickness of the smooth muscle of the vascular wall" [RGD:cur] is_a: MP:0005592 ! abnormal vascular smooth muscle morphology [Term] id: MP:0002976 name: vascular smooth muscle hypotrophy def: "decrease in size or thickness of the smooth muscle of the vascular wall" [RGD:cur] is_a: MP:0005592 ! abnormal vascular smooth muscle morphology [Term] id: MP:0002977 name: obsolete abnormal patterning of the aortic arch def: "OBSOLETE. abnormal development or differentiation of the convex portion of the aorta between the ascending and descending parts of the aorta" [ISBN:0-683-40008-8] comment: Obsolete. Use instead the terms abnormal aortic arch and aortic arch branch attachment (MP:0010464) and its children or abnormal aortic arch development (MP:0010241). is_obsolete: true consider: MP:0010241 consider: MP:0010464 [Term] id: MP:0002978 name: absent otoliths def: "absence of the crystalline calciferous particles adhering to the otolithic membrane" [ISBN:0-683-40008-8] synonym: "absent ear crystals" EXACT [] synonym: "absent otoconia" EXACT [] synonym: "absent otoconial crystals" EXACT [] synonym: "absent statoconia" EXACT [] synonym: "absent statoliths" EXACT [] is_a: MP:0003144 ! decreased otolith number [Term] id: MP:0002979 name: obsolete abnormal vestibular response def: "OBSOLETE. abnormal response to changes in motion" [https://orcid.org/0000-0003-4606-0597] is_obsolete: true consider: MP:0004742 [Term] id: MP:0002980 name: abnormal postural reflex def: "any anomaly in the responses that control the normal position of the trunk and extremities and/or posture" [ISBN:0-683-40008-8] synonym: "abnormal static reflexes" RELATED [] is_a: MP:0001961 ! abnormal reflex [Term] id: MP:0002981 name: increased liver weight def: "a greater than average weight of the bile-secreting exocrine gland" [MGI:il] synonym: "increased hepatic weight" EXACT [] is_a: MP:0000599 ! enlarged liver is_a: MP:0004847 ! abnormal liver weight [Term] id: MP:0002982 name: abnormal primordial germ cell migration def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "abnormal germ cell migration" RELATED [] synonym: "abnormal PGC migration" EXACT [] is_a: MP:0003091 ! abnormal cell migration is_a: MP:0020363 ! abnormal germ cell physiology [Term] id: MP:0002983 name: increased retina ganglion cell number def: "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" [https://orcid.org/0000-0003-3691-0324, MGI:il] synonym: "increased retinal ganglion cell number" EXACT [] is_a: MP:0006006 ! increased sensory neuron number is_a: MP:0008056 ! abnormal retina ganglion cell morphology [Term] id: MP:0002984 name: retina hypoplasia def: "decrease in the number of normal cells in normal arrangement in the retina, typically resulting in decreased size" [https://orcid.org/0000-0002-0371-1954, ISBN:0-683-40008-8] synonym: "hypoplastic retina" EXACT [] synonym: "retinal hypoplasia" EXACT [] is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0002985 name: abnormal urine calcium level def: "any change in the amount of calcium in the urine" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0009643 ! abnormal urine homeostasis is_a: MP:0020879 ! abnormal calcium level [Term] id: MP:0002986 name: decreased urine calcium level def: "abnormally low amounts of calcium in the urine" [https://orcid.org/0000-0003-3691-0324] synonym: "hypocalciuria" EXACT [] synonym: "reduced urinary calcium concentration" EXACT [] synonym: "reduced urinary calcium level" EXACT [] synonym: "reduced urine calcium level" EXACT [] is_a: MP:0002985 ! abnormal urine calcium level is_a: MP:0014538 ! decreased calcium level [Term] id: MP:0002987 name: abnormal urine osmolality def: "changes in the amount of ions in the urine compared to the normal state" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal urine osmolarity" EXACT [] is_a: MP:0009643 ! abnormal urine homeostasis [Term] id: MP:0002988 name: decreased urine osmolality def: "reduction in the amount of ions in the urine compared to the normal state" [https://orcid.org/0000-0003-3691-0324] synonym: "decreased urine osmolarity" EXACT [] synonym: "reduced urine osmolality" EXACT [] is_a: MP:0002987 ! abnormal urine osmolality [Term] id: MP:0002989 name: small kidney def: "reduced physical bulk one or both of the organs responsible for urine secretion" [https://orcid.org/0000-0003-3691-0324] synonym: "decreased kidney size" EXACT [] synonym: "reduced kidney size" EXACT [] is_a: MP:0002706 ! abnormal kidney size [Term] id: MP:0002990 name: short ureter def: "reduced length of the tube that conducts the urine from the renal pelvis to the bladder" [ISBN:0-683-40008-8] is_a: MP:0000534 ! abnormal ureter morphology [Term] id: MP:0002991 name: abnormal sebaceous gland physiology def: "any functional anomaly of the holocrine glands that secrete sebum into the hair follicles or in hairless areas into ducts" [MESH:A10.336.827] synonym: "al sebaceous gland function" EXACT [] is_a: MP:0010680 ! abnormal skin adnexa physiology is_a: MP:0013556 ! abnormal holocrine gland physiology [Term] id: MP:0002992 name: abnormal sebaceous lipid secretion def: "abnormal function of the sebaceous gland resulting in changes to the lipid profile secreted onto the hair and skin" [https://orcid.org/0000-0003-4606-0597] is_a: MP:0002991 ! abnormal sebaceous gland physiology [Term] id: MP:0002993 name: arthritis def: "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" [ISBN:0-683-40008-8, MESH:C05.550.114] is_a: MP:0002933 ! joint inflammation [Term] id: MP:0002995 name: primary sex reversal def: "gonad type is not consistent with chromosomal sex" [MGI:llw2] synonym: "sex-reversed gonad" EXACT [] is_a: MP:0002211 ! abnormal primary sex determination is_a: MP:0005652 ! sex reversal [Term] id: MP:0002996 name: ovotestis def: "state in which a single recognizable gonad contains both testicular and ovarian tissue" [MGI:llw2] is_a: MP:0002211 ! abnormal primary sex determination is_a: MP:0003936 ! abnormal reproductive system development [Term] id: MP:0002997 name: enlarged seminal vesicle def: "increased size of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens" [https://orcid.org/0000-0002-6490-7723] synonym: "enlarged seminal gland" EXACT [] synonym: "increased seminal vesicle size" EXACT [] is_a: MP:0004907 ! abnormal seminal vesicle size [Term] id: MP:0002998 name: abnormal bone remodeling def: "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" [https://orcid.org/0000-0002-6490-7723, MESH:G04.185.753.150] xref: GO:0046849 is_a: MP:0001533 ! abnormal skeleton physiology [Term] id: MP:0002999 name: abnormal bone healing def: "defects in the restoration of integrity to bone after trauma" [https://orcid.org/0000-0002-6490-7723] is_a: MP:0001533 ! abnormal skeleton physiology is_a: MP:0005023 ! abnormal wound healing [Term] id: MP:0003005 name: abnormal hippocampal fimbria morphology def: "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" [ISBN:0-683-40008-8, MESH:A08.186.211.464.265] subset: IMPC subset: Sanger_Terms synonym: "abnormal fimbra hippocampus morphology" EXACT [] synonym: "abnormal hippocampus fimbra morphology" EXACT [] is_a: MP:0000807 ! abnormal hippocampus morphology [Term] id: MP:0003006 name: abnormal hippocampal fornix morphology def: "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" [ISBN:0-683-40008-8, MESH:A08.186.211.464.265] synonym: "abnormal fornix hippocampus morphology" EXACT [] synonym: "abnormal hippocampus fornix morphology" EXACT [] is_a: MP:0000807 ! abnormal hippocampus morphology [Term] id: MP:0003007 name: ectopic thymus def: "ectopic location of the thymus primordium, which normally resides in the superior mediastinum and lower part of the neck" [https://orcid.org/0000-0002-6490-7723] is_a: MP:0000703 ! abnormal thymus morphology [Term] id: MP:0003008 name: enhanced long-term potentiation def: "greater than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells" [ISBN:0838580343] synonym: "enhanced long term potentiation" EXACT [] synonym: "enhanced LTP" EXACT [] is_a: MP:0002207 ! abnormal long-term potentiation [Term] id: MP:0003009 name: abnormal cytokine secretion def: "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" [https://orcid.org/0000-0003-4606-0597, ISBN:0-8153-1691-7] is_a: MP:0002723 ! abnormal immune serum protein physiology [Term] id: MP:0003010 name: decreased mortality induced by ionizing radiation def: "reduced sensitivity to lethal doses of ionizing radiation such as ultraviolet light, X-rays, or gamma rays" [https://orcid.org/0000-0003-4606-0597, J:88888] synonym: "reduced mortality induced by ionizing radiation" EXACT [] is_a: MP:0009764 ! decreased susceptibility to induced morbidity/mortality is_a: MP:0020149 ! abnormal mortality induced by ionizing radiation [Term] id: MP:0003011 name: delayed dark adaptation def: "increase in time required for the eye to recover its sensitivity in the dark following exposure to bright lights" [J:68444, MGI:hdene] is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0003012 name: obsolete no phenotypic analysis def: "Obsolete no description of morphological, physiological or behavioral information presented" [https://orcid.org/0000-0003-3691-0324] synonym: "no phenotype described" EXACT [] is_obsolete: true [Term] id: MP:0003014 name: abnormal kidney medulla morphology def: "any structural anomaly of the inner portion of the kidney consisting of the renal pyramids" [https://orcid.org/0000-0003-4606-0597, ISBN:0-683-40008-8] synonym: "abnormal renal medulla" EXACT [] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0003015 name: abnormal circulating bicarbonate level def: "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" [MESH:D01.200.275.150.100, RGD:cur] is_a: MP:0009642 ! abnormal blood homeostasis is_a: MP:0031394 ! abnormal bicarbonate level [Term] id: MP:0003016 name: increased circulating bicarbonate level def: "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" [MESH:D01.200.275.150.100, RGD:cur] is_a: MP:0003015 ! abnormal circulating bicarbonate level [Term] id: MP:0003017 name: decreased circulating bicarbonate level def: "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" [MESH:D01.200.275.150.100, RGD:cur] synonym: "reduced circulating bicarbonate level" EXACT [] is_a: MP:0003015 ! abnormal circulating bicarbonate level [Term] id: MP:0003018 name: abnormal circulating chloride level def: "aberrant chloride concentration in the blood" [RGD:cur] is_a: MP:0012007 ! abnormal chloride level [Term] id: MP:0003019 name: increased circulating chloride level def: "elevated chloride concentration in the blood" [RGD:cur] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "hyperchloraemia" EXACT [] synonym: "hyperchloremia" EXACT [] is_a: MP:0003018 ! abnormal circulating chloride level [Term] id: MP:0003020 name: decreased circulating chloride level def: "reduced chloride concentration in the blood" [RGD:cur] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "hypochloraemia" EXACT [] synonym: "hypochloremia" EXACT [] synonym: "reduced circulating chloride level" EXACT [] is_a: MP:0003018 ! abnormal circulating chloride level [Term] id: MP:0003021 name: abnormal coronary flow rate def: "aberrant rate of blood flow in the blood vessels supplying the heart" [RGD:cur] is_a: MP:0000233 ! abnormal blood flow velocity is_a: MP:0006111 ! abnormal coronary circulation [Term] id: MP:0003022 name: increased coronary flow rate def: "elevated rate of blood flow in the blood vessels supplying the heart" [RGD:cur] is_a: MP:0003021 ! abnormal coronary flow rate [Term] id: MP:0003023 name: decreased coronary flow rate def: "reduced rate of blood flow in the blood vessels supplying the heart" [RGD:cur] synonym: "reduced coronary flow rate" EXACT [] is_a: MP:0003021 ! abnormal coronary flow rate [Term] id: MP:0003024 name: coronary artery stenosis def: "abnormal narrowing or constriction of any of the blood vessels supplying the heart" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "coronary artery disease" EXACT [] is_a: MP:0004111 ! abnormal coronary artery morphology is_a: MP:0006135 ! artery stenosis [Term] id: MP:0003025 name: increased vasoconstriction alt_id: MP:0005588 def: "greater ability to constrict the nonstriated, involuntary muscle tissue of the blood vessels" [ISBN:0-683-40008-8, RGD:cur] synonym: "increased vascular smooth muscle contraction" EXACT [] is_a: MP:0000250 ! abnormal vasoconstriction [Term] id: MP:0003026 name: decreased vasoconstriction alt_id: MP:0005589 def: "reduced ability to constrict the nonstriated, involuntary muscle tissue of the blood vessels" [ISBN:0-683-40008-8, RGD:cur] synonym: "decreased vascular smooth muscle contraction" EXACT [] synonym: "reduced vascular smooth muscle contraction" EXACT [] synonym: "reduced vasoconstriction" EXACT [] is_a: MP:0000250 ! abnormal vasoconstriction is_a: MP:0000740 ! impaired smooth muscle contractility [Term] id: MP:0003027 name: abnormal blood pH regulation def: "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" [https://orcid.org/0000-0003-3691-0324, RGD:cur] is_a: MP:0004043 ! abnormal pH regulation is_a: MP:0009642 ! abnormal blood homeostasis [Term] id: MP:0003028 name: alkalosis def: "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" [https://orcid.org/0000-0003-0431-8641, ISBN:0-683-40008-8, RGD:cur] is_a: MP:0004043 ! abnormal pH regulation [Term] id: MP:0003029 name: alkalemia def: "decreased concentration of H-ion in the blood or a rise in pH in the arterial blood" [https://orcid.org/0000-0003-0431-8641, ISBN:0-683-40008-8, RGD:cur] synonym: "alkalaemia" EXACT [] is_a: MP:0003027 ! abnormal blood pH regulation [Term] id: MP:0003030 name: acidemia def: "increased concentration of H-ion in the blood or a fall below normal in pH in the arterial blood" [https://orcid.org/0000-0003-0431-8641, ISBN:0-683-40008-8, RGD:cur] synonym: "acidaemia" EXACT [] is_a: MP:0003027 ! abnormal blood pH regulation [Term] id: MP:0003031 name: acidosis def: "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" [https://orcid.org/0000-0003-0431-8641, ISBN:0-683-40008-8, RGD:cur] is_a: MP:0004043 ! abnormal pH regulation [Term] id: MP:0003032 name: hypocapnia def: "reduced concentration of CO2 in the blood, alveoli or other tissues resulting in the decreased pressure of this component of body gases" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] synonym: "decreased partial CO2 pressure" EXACT [] is_a: MP:0003860 ! abnormal carbon dioxide level [Term] id: MP:0003033 name: abnormal pulmonary vascular resistance def: "deviation from the normal force opposing blood flow in the lung blood vessels" [RGD:cur] is_a: MP:0005532 ! abnormal vascular resistance [Term] id: MP:0003034 name: increased pulmonary vascular resistance def: "greater than the normal force opposing blood flow in the lung blood vessels" [RGD:cur] is_a: MP:0003033 ! abnormal pulmonary vascular resistance [Term] id: MP:0003035 name: decreased pulmonary vascular resistance def: "less than the normal force opposing blood flow in the lung blood vessels" [RGD:cur] synonym: "reduced pulmonary vascular resistance" EXACT [] is_a: MP:0003033 ! abnormal pulmonary vascular resistance [Term] id: MP:0003036 name: vertebral transformation alt_id: MP:0000144 alt_id: MP:0000145 alt_id: MP:0000146 alt_id: MP:0000147 def: "homeotic transformation of a specific vertebrae to adopt the fate of another" [https://orcid.org/0000-0003-3691-0324] subset: IMPC subset: Sanger_Terms synonym: "transformation of C7 to T1" NARROW [] synonym: "transformation of L6 to S1" NARROW [] synonym: "transformation of T7 to T8" NARROW [] synonym: "transformation of TX to L1" NARROW [] synonym: "transitional vertebrae" EXACT [] synonym: "vertebral homeotic transformation" EXACT [] is_a: MP:0000137 ! abnormal vertebrae morphology [Term] id: MP:0003037 name: increased myocardial infarct size def: "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" [ISBN:0-683-40008-8, RGD:cur] synonym: "increased myocardium infarct size" EXACT [] is_a: MP:0031217 ! increased susceptibility to myocardial ischemic injury [Term] id: MP:0003038 name: decreased myocardial infarct size def: "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" [ISBN:0-683-40008-8, RGD:cur] synonym: "decreased myocardium infarct size" EXACT [] synonym: "reduced myocardial infarct size" EXACT [] synonym: "reduced myocardium infarct size" EXACT [] is_a: MP:0031216 ! decreased susceptibility to myocardial ischemic injury [Term] id: MP:0003039 name: increased time of peak ischemic contracture def: "increased duration of time from normal necessary to achieve full irreversible contraction of the cardiac muscle in response to myocardial infarction" [ISBN:0-683-40008-8, RGD:cur] synonym: "increased time of peak ischaemic contracture" EXACT [] is_a: MP:0000343 ! abnormal response to cardiac infarction [Term] id: MP:0003040 name: decreased time of peak ischemic contracture def: "decreased duration of time from normal necessary to achieve full irreversible contraction of the cardiac muscle in response to myocardial infarction" [ISBN:0-683-40008-8, RGD:cur] synonym: "decreased time of peak ischaemic contracture" EXACT [] synonym: "reduced time of peak ischaemic contracture" EXACT [] synonym: "reduced time of peak ischemic contracture" EXACT [] is_a: MP:0000343 ! abnormal response to cardiac infarction [Term] id: MP:0003041 name: increased time of onset of induced ischemic contracture def: "increased duration of time from normal necessary to initiate the irreversible contraction of the cardiac muscle in response to induced myocardial infarction" [ISBN:0-683-40008-8, RGD:cur] synonym: "increased time of onset of induced ischaemic contracture" EXACT [] is_a: MP:0000343 ! abnormal response to cardiac infarction [Term] id: MP:0003042 name: decreased time of onset of induced ischemic contracture def: "decreased duration of time from normal necessary to initiate the irreversible contraction of the cardiac muscle in response to induced myocardial infarction" [ISBN:0-683-40008-8, RGD:cur] synonym: "decreased time of onset of induced ischaemic contracture" EXACT [] synonym: "reduced time of onset of induced ischaemic contracture" EXACT [] synonym: "reduced time of onset of induced ischemic contracture" EXACT [] is_a: MP:0000343 ! abnormal response to cardiac infarction [Term] id: MP:0003043 name: hypoalgesia def: "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)" [https://orcid.org/0000-0002-6490-7723, https://orcid.org/0000-0003-3691-0324, MESH:C10.597.751.791.400] synonym: "increased pain threshold" EXACT [] is_a: MP:0001970 ! abnormal pain threshold [Term] id: MP:0003044 name: impaired basement membrane formation def: "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" [ISBN:0-683-40008-8] synonym: "impaired basement lamina formation" EXACT [] is_a: MP:0004272 ! abnormal basement membrane morphology [Term] id: MP:0003045 name: obsolete fibrosis def: "invasion of fibrous connective tissue into any organ or multiple organs, often resulting from inflammation or injury" [https://orcid.org/0000-0002-6490-7723, MESH:C23.550.355] comment: This term is not specific and has been removed. Additional classes for fibrosis in anatomical locations have been added is_obsolete: true [Term] id: MP:0003046 name: liver cirrhosis def: "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" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "hepatic cirrhosis" EXACT [] is_a: MP:0000598 ! abnormal liver morphology [Term] id: MP:0003047 name: abnormal thoracic vertebrae morphology def: "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" [https://orcid.org/0000-0003-3691-0324, MESH:A02.835.232.834.892] is_a: MP:0000459 ! abnormal presacral vertebrae morphology is_a: MP:0004624 ! abnormal thoracic cage morphology [Term] id: MP:0003048 name: abnormal cervical vertebrae morphology def: "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" [https://orcid.org/0000-0003-3691-0324, MESH:A02.835.232.834.151] is_a: MP:0000459 ! abnormal presacral vertebrae morphology [Term] id: MP:0003049 name: abnormal lumbar vertebrae morphology def: "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" [https://orcid.org/0000-0003-3691-0324, MESH:A02.835.232.834.519] is_a: MP:0000459 ! abnormal presacral vertebrae morphology [Term] id: MP:0003050 name: abnormal sacral vertebrae morphology def: "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" [https://orcid.org/0000-0003-3691-0324] comment: In humans, vertebrae S1-S5 are normally fused in maturity, with no intervertebral discs. In rodents, these vertebrae remain distinct in adulthood. is_a: MP:0000137 ! abnormal vertebrae morphology [Term] id: MP:0003051 name: curly tail def: "a loop or corkscrew-like curl in the tail" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "curled tail" EXACT [] synonym: "loop tail" EXACT [] synonym: "looptail" EXACT [] synonym: "twisted tail" EXACT [] is_a: MP:0002111 ! abnormal tail morphology [Term] id: MP:0003052 name: omphalocele def: "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" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8, PMID:20333300] comment: Do not confuse with umbilical hernia - caused by a failure to retract the umbilical hernia that occurs normally during development. subset: CvDC_Terms synonym: "amniocele" EXACT [] synonym: "exomphalos" EXACT [] synonym: "exumbilication" EXACT [] xref: Fyler:4404 is_a: MP:0003257 ! abnormal abdominal wall morphology [Term] id: MP:0003053 name: delayed tooth eruption def: "postponed onset of the growth of the teeth out of the gums" [https://orcid.org/0000-0002-0371-1954] is_a: MP:0000119 ! abnormal tooth eruption [Term] id: MP:0003054 name: spina bifida def: "common congenital midline defect of fusion of the vertebral arch" [MESH:C10.500.680.800] subset: CvDC_Terms synonym: "spinal dysraphism" EXACT [] xref: Fyler:4157 is_a: MP:0000929 ! open neural tube [Term] id: MP:0003055 name: abnormal long bone epiphyseal plate morphology def: "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" [MESH:A02.835.232.251.352] synonym: "abnormal long bone epiphysial plate morphology" EXACT [] synonym: "abnormal long bone growth plate morphology" EXACT [] is_a: MP:0000163 ! abnormal cartilage morphology is_a: MP:0003723 ! abnormal long bone morphology is_a: MP:0006395 ! abnormal epiphyseal plate morphology [Term] id: MP:0003056 name: abnormal hyoid bone morphology def: "any structural anomaly of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles" [ISBN:0-683-40008-8, MGI:hdene] synonym: "abnormal lingual bone" EXACT [] synonym: "abnormal tongue bone morphology" EXACT [] is_a: MP:0005274 ! abnormal viscerocranium morphology [Term] id: MP:0003057 name: abnormal epicardium morphology def: "any structural anomaly of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "abnormal visceral serous pericardium of heart morphology" EXACT [] synonym: "abnormal visceral serous pericardium proper morphology" EXACT [] is_a: MP:0000288 ! abnormal pericardium morphology [Term] id: MP:0003058 name: increased insulin secretion def: "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" [MESH:D06.472.699.587.740.625, RGD:cur] synonym: "elevated insulin secretion" EXACT [] is_a: MP:0003564 ! abnormal insulin secretion [Term] id: MP:0003059 name: decreased insulin secretion def: "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" [MESH:D06.472.699.587.740.625, RGD:cur] synonym: "reduced insulin secretion" EXACT [] is_a: MP:0003564 ! abnormal insulin secretion [Term] id: MP:0003060 name: increased aerobic running capacity def: "greater ability to run at defined speeds and/or distances compared to controls" [RGD:cur] is_a: MP:0000348 ! abnormal aerobic fitness is_a: MP:0012107 ! enhanced exercise endurance [Term] id: MP:0003061 name: decreased aerobic running capacity def: "reduced ability to run at defined speeds and/or distances compared to controls" [RGD:cur] is_a: MP:0000348 ! abnormal aerobic fitness is_a: MP:0012106 ! impaired exercise endurance [Term] id: MP:0003062 name: abnormal coping response def: "altered ability to respond productively to a stressful situation or stimulus, or failure to seek pleasurable stimuli" [RGD:cur] subset: Europhenome_Terms subset: IMPC is_a: MP:0003360 ! abnormal depression-related behavior [Term] id: MP:0003063 name: increased coping response def: "enhanced ability to respond productively to a stressful situation" [RGD:cur] subset: Europhenome_Terms subset: IMPC is_a: MP:0003062 ! abnormal coping response is_a: MP:0014413 ! decreased depression-related behavior [Term] id: MP:0003064 name: decreased coping response def: "reduced ability to respond productively to a stressful situation" [RGD:cur] subset: Europhenome_Terms subset: IMPC synonym: "reduced coping response" EXACT [] is_a: MP:0003062 ! abnormal coping response is_a: MP:0014414 ! increased depression-related behavior [Term] id: MP:0003065 name: abnormal liver copper level def: "anomaly in the amount of copper present in the liver tissue" [RGD:cur] synonym: "abnormal hepatic copper content" EXACT [] synonym: "abnormal liver copper concentration" EXACT [] is_a: MP:0000598 ! abnormal liver morphology is_a: MP:0003952 ! abnormal copper level [Term] id: MP:0003066 name: increased liver copper level def: "a greater accumulation of copper in the liver tissue compared to controls" [RGD:cur] synonym: "increased hepatic copper content" EXACT [] is_a: MP:0003065 ! abnormal liver copper level is_a: MP:0014539 ! increased copper level [Term] id: MP:0003067 name: decreased liver copper level def: "a reduced amount of copper in the liver tissue compared to controls" [RGD:cur] synonym: "decreased hepatic copper content" EXACT [] synonym: "reduced hepatic copper content" EXACT [] synonym: "reduced liver copper level" EXACT [] is_a: MP:0003065 ! abnormal liver copper level is_a: MP:0014540 ! decreased copper level [Term] id: MP:0003068 name: enlarged kidney def: "larger than average size of the kidney" [https://orcid.org/0000-0002-0371-1954] synonym: "increased kidney size" EXACT [] synonym: "nephromegaly" EXACT [] synonym: "renal enlargement" EXACT [] is_a: MP:0002706 ! abnormal kidney size is_a: MP:0031094 ! organomegaly [Term] id: MP:0003069 name: abnormal superior semicircular canal morphology def: "any structural anomaly of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "abnormal anterior semicircular canal" EXACT [] is_a: MP:0002428 ! abnormal semicircular canal morphology [Term] id: MP:0003070 name: increased vascular permeability def: "greater or faster ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases" [ISBN:0-683-40008-8] synonym: "vascular leakage" EXACT [] is_a: MP:0001619 ! abnormal vascular permeability [Term] id: MP:0003071 name: decreased vascular permeability def: "reduced or slower ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases" [ISBN:0-683-40008-8] synonym: "reduced vascular permeability" EXACT [] is_a: MP:0001619 ! abnormal vascular permeability [Term] id: MP:0003072 name: abnormal metatarsal bone morphology def: "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" [ISBN:0-683-40008-8, ISBN:978-0028454405] is_a: MP:0011504 ! abnormal limb long bone morphology [Term] id: MP:0003073 name: abnormal metacarpal bone morphology def: "any structural anomaly in the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges" [ISBN:0-683-40008-8, ISBN:978-0028454405] is_a: MP:0011504 ! abnormal limb long bone morphology [Term] id: MP:0003074 name: absent metacarpal bones def: "missing all of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges" [ISBN:0-683-40008-8, ISBN:978-0028454405] is_a: MP:0003073 ! abnormal metacarpal bone morphology [Term] id: MP:0003075 name: abnormal response to CNS ischemic injury def: "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" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal response to CNS ischaemic injury" EXACT [] synonym: "altered response to CNS ischaemic injury" EXACT [] synonym: "altered response to CNS ischemic injury" EXACT [] synonym: "altered response to stroke" NARROW [] is_a: MP:0003633 ! abnormal nervous system physiology is_a: MP:0005164 ! abnormal response to injury [Term] id: MP:0003076 name: increased susceptibility to ischemic brain injury alt_id: MP:0006081 def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "decreased resistance to ischaemic brain injury" EXACT [] synonym: "decreased resistance to ischemic brain injury" EXACT [] synonym: "increased CNS stroke" EXACT [] synonym: "increased susceptibility to ischaemic brain injury" EXACT [] synonym: "increased susceptibility to spontaneous CNS ischaemia" RELATED [] synonym: "increased susceptibility to spontaneous CNS ischemia" RELATED [] is_a: MP:0003075 ! abnormal response to CNS ischemic injury is_a: MP:0005165 ! increased susceptibility to injury is_a: MP:0014523 ! increased response to brain injury [Term] id: MP:0003077 name: abnormal cell cycle def: "failure to progress or abnormal progression through the stages of the cell cycle" [https://orcid.org/0000-0003-4606-0597] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0003078 name: aphakia def: "absence of the crystalline lens of the eye" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "absence of lens" EXACT [] synonym: "absent lens" EXACT [] is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0003079 name: decreased susceptibility to induced joint inflammation def: "reduced or absent inflammatory response in the joints due to chemical or mechanical agents" [RGD:cur] synonym: "increased resistance to induced joint inflammation" EXACT [] is_a: MP:0002933 ! joint inflammation [Term] id: MP:0003080 name: increased natural killer cell mediated cytotoxicity def: "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" [GO:0042267, RGD:cur] synonym: "competent NK cell cytolysis" EXACT [] synonym: "enhanced NK cell cytolysis" EXACT [] synonym: "increased killer activity" BROAD [] synonym: "increased natural killer cell mediated cell death" EXACT [] synonym: "increased natural killer cell mediated cell killing" EXACT [] synonym: "increased natural killer cell mediated cytolysis" EXACT [] synonym: "increased natural killer-cell mediated cytolysis" EXACT [] synonym: "increased NK cell mediated cell death" EXACT [] synonym: "increased NK cell mediated cell killing" EXACT [] synonym: "increased NK cell mediated cytolysis" EXACT [] synonym: "increased NK cell mediated cytotoxicity" EXACT [] is_a: MP:0011719 ! abnormal natural killer cell mediated cytotoxicity [Term] id: MP:0003081 name: abnormal soleus morphology def: "any structural anomaly of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot" [https://orcid.org/0000-0003-4606-0597, ISBN:0-683-40008-8] is_a: MP:0021206 ! abnormal limb muscle morphology [Term] id: MP:0003082 name: abnormal gastrocnemius morphology def: "any structural anomaly of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles" [https://orcid.org/0000-0003-4606-0597, ISBN:0-683-40008-8] is_a: MP:0021206 ! abnormal limb muscle morphology [Term] id: MP:0003083 name: abnormal tibialis anterior morphology def: "any structural anomaly of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot" [https://orcid.org/0000-0003-4606-0597, ISBN:0-683-40008-8] synonym: "abnormal TA morphology" EXACT [] is_a: MP:0021206 ! abnormal limb muscle morphology [Term] id: MP:0003084 name: abnormal skeletal muscle fiber morphology def: "any structural anomaly of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [https://orcid.org/0000-0003-4606-0597, ISBN:0-683-40008-8] synonym: "abnormal skeletal muscle fibre morphology" EXACT [] is_a: MP:0000759 ! abnormal skeletal muscle morphology is_a: MP:0004087 ! abnormal muscle fiber morphology [Term] id: MP:0003085 name: abnormal egg cylinder morphology def: "any structural anomaly in the transient cup-like structure of the epiblast that consists of a single layer of embryonic cells" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002085 ! abnormal embryonic tissue morphology [Term] id: MP:0003086 name: hydromyelia def: "increased fluid in the central canal of the spinal cord" [https://orcid.org/0000-0003-4606-0597] synonym: "hydrorrhachis" EXACT [] is_a: MP:0000955 ! abnormal spinal cord morphology is_a: MP:0001785 ! edema [Term] id: MP:0003087 name: absent allantois def: "missing fetal membrane which contributes to the formation of the umbilical cord and placenta" [ISBN:0-683-40008-8] is_a: MP:0001726 ! abnormal allantois morphology [Term] id: MP:0003088 name: abnormal prepulse inhibition def: "anomaly in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus" [https://orcid.org/0000-0003-4606-0597, J:91131] synonym: "abnormal PPI" BROAD [] is_a: MP:0002206 ! abnormal CNS synaptic transmission [Term] id: MP:0003089 name: decreased skin tensile strength def: "reduction in the normal maximum tension the skin can withstand without tearing" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "brittle skin" EXACT [] synonym: "reduced skin tensile strength" EXACT [] is_a: MP:0005275 ! abnormal skin tensile strength [Term] id: MP:0003090 name: abnormal muscle precursor cell migration def: "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" [https://orcid.org/0000-0003-4606-0597] synonym: "abnormal muscle progenitor cell migration" RELATED [] synonym: "abnormal myogenic progenitor cell migration" EXACT [] is_a: MP:0003091 ! abnormal cell migration is_a: MP:0012186 ! abnormal muscle precursor cell physiology [Term] id: MP:0003091 name: abnormal cell migration def: "any anomaly in the movement of cells from one site to another, often occurring during developmental or chemotactic processes" [GO:0016477, https://orcid.org/0000-0003-3691-0324] is_a: MP:0020846 ! abnormal cell motility [Term] id: MP:0003092 name: decreased cornea stroma thickness def: "reduced width of the lamellated connective tissue layer of the cornea" [https://orcid.org/0000-0002-6490-7723] synonym: "decreased corneal stroma thickness" EXACT [] synonym: "reduced corneal stroma thickness" EXACT [] is_a: MP:0005300 ! abnormal cornea stroma morphology is_a: MP:0005543 ! decreased cornea thickness [Term] id: MP:0003093 name: abnormal cornea anterior stroma morphology def: "any structural anomaly of the anterior segment of the lamellated connective tissue layer of the cornea" [https://orcid.org/0000-0002-6490-7723, PMID:12556382] synonym: "abnormal anterior cornea stroma morphology" EXACT [] synonym: "abnormal anterior corneal stroma morphology" EXACT [] synonym: "abnormal anterior stroma morphology" BROAD [] synonym: "abnormal corneal anterior stroma morphology" EXACT [] is_a: MP:0005300 ! abnormal cornea stroma morphology [Term] id: MP:0003094 name: abnormal cornea posterior stroma morphology def: "any structural anomaly of the posterior segment of the lamellated connective tissue layer of the cornea" [https://orcid.org/0000-0002-6490-7723, PMID:12556382] synonym: "abnormal corneal posterior stroma morphology" EXACT [] synonym: "abnormal posterior cornea stroma morphology" EXACT [] synonym: "abnormal posterior corneal stroma morphology" EXACT [] synonym: "abnormal posterior stroma morphology" BROAD [] is_a: MP:0005300 ! abnormal cornea stroma morphology [Term] id: MP:0003095 name: abnormal cornea stroma development def: "anomalous differentiation of the lamellated connective tissue layer of the cornea" [https://orcid.org/0000-0002-6490-7723, PMID:12556382] synonym: "abnormal corneal stroma development" EXACT [] is_a: MP:0001286 ! abnormal eye development is_a: MP:0005300 ! abnormal cornea stroma morphology [Term] id: MP:0003096 name: increased corneal light-scattering def: "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" [https://orcid.org/0000-0003-3691-0324, J:81616] is_a: MP:0005253 ! abnormal eye physiology [Term] id: MP:0003097 name: abnormal tendon stiffness def: "altered ability of tendon to maintain tensile strength and load" [https://orcid.org/0000-0002-6490-7723] is_a: MP:0030802 ! abnormal tendon physiology [Term] id: MP:0003098 name: decreased tendon stiffness def: "reduced ability of tendon to maintain tensile strength and load" [https://orcid.org/0000-0002-6490-7723, J:79915] synonym: "reduced tendon stiffness" EXACT [] synonym: "tendon weakness" EXACT [] is_a: MP:0003097 ! abnormal tendon stiffness [Term] id: MP:0003099 name: retina detachment def: "part or all of the retinal neural layer is separated from the outer pigmented layer of the retina; may occur with aging or as a result of trauma" [https://orcid.org/0000-0002-6490-7723, PMID:38485969] synonym: "detached retina" EXACT [] synonym: "retinal detachment" EXACT [] is_a: MP:0001325 ! abnormal retina morphology [Term] id: MP:0003100 name: myopia def: "optical condition in which only rays from a finite distance from the eye focus on the retina" [https://orcid.org/0000-0002-6490-7723, J:83544] synonym: "near sight" EXACT [] synonym: "nearsightedness" EXACT [] synonym: "short sight" EXACT [] synonym: "shortsightedness" EXACT [] is_a: MP:0002090 ! abnormal vision [Term] id: MP:0003101 name: high myopia def: "an optical condition involving enlarging of the eye, scleral thinning and frequent detachment of the retina resulting from stress associated with excessive axial elongation" [https://orcid.org/0000-0002-6490-7723, J:83544] is_a: MP:0003100 ! myopia [Term] id: MP:0003102 name: sclera thinning def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "blue sclera" EXACT [] is_a: MP:0002698 ! abnormal sclera morphology [Term] id: MP:0003103 name: liver degeneration def: "deterioration of the liver due to injury or disease, often accompanied by loss of function" [https://orcid.org/0000-0003-4606-0597, J:91653] synonym: "hepatic degeneration" EXACT [] is_a: MP:0000598 ! abnormal liver morphology [Term] id: MP:0003104 name: acrania def: "complete or partial absence of a skull; usually associated with anencephaly" [https://orcid.org/0000-0002-6490-7723] synonym: "absent skull" EXACT [] is_a: MP:0000438 ! abnormal cranium morphology [Term] id: MP:0003105 name: abnormal heart atrium morphology def: "any structural anomaly of one or both of the two upper chambers of the heart, to which the blood returns from the circulation" [https://orcid.org/0000-0003-3691-0324, MESH:A07.541.358] synonym: "abnormal heart atria" EXACT [] synonym: "atrial dysplasia" EXACT [] is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0003106 name: abnormal fear-related response def: "altered emotional response related to anticipation of specific pain or danger" [MGI:CFG] synonym: "abnormal fear response" EXACT [] is_a: MP:0002065 ! abnormal fear/anxiety-related behavior [Term] id: MP:0003107 name: abnormal response to novelty def: "alteration in amount of exploration/investigation of a novel object, situation or environment" [MGI:CFG] subset: Europhenome_Terms subset: IMPC is_a: MP:0002572 ! abnormal emotion/affect behavior [Term] id: MP:0003108 name: short zygomatic bone def: "reduced length of the bone that forms the prominence of the cheek" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "decreased zygomatic bone length" EXACT [] is_a: MP:0004468 ! small zygomatic bone is_a: MP:0030384 ! short facial bone [Term] id: MP:0003109 name: short femur def: "reduced length of the long bone of the thigh" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "decreased femur length" EXACT [] is_a: MP:0004686 ! decreased length of long bones is_a: MP:0030825 ! decreased femur size [Term] id: MP:0003110 name: absent malleus processus brevis def: "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" [https://orcid.org/0000-0002-6490-7723, PMID:12701100] synonym: "absent malleal processus brevis" EXACT [] is_a: MP:0010324 ! abnormal malleus processus brevis morphology [Term] id: MP:0003111 name: abnormal cell nucleus morphology def: "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" [GO:0005634] synonym: "abnormal nuclear compartment morphology" EXACT [] synonym: "abnormal nucleus morphology" BROAD [] is_a: MP:0014239 ! abnormal intracellular organelle morphology [Term] id: MP:0003112 name: enlarged parathyroid gland def: "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" [ISBN:0-683-40008-8] synonym: "increased parathyroid gland size" EXACT [] is_a: MP:0000678 ! abnormal parathyroid gland morphology [Term] id: MP:0003113 name: small parathyroid gland def: "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" [ISBN:0-683-40008-8] synonym: "decreased parathyroid gland size" EXACT [] synonym: "reduced parathyroid gland size" EXACT [] is_a: MP:0000678 ! abnormal parathyroid gland morphology [Term] id: MP:0003114 name: pigmented parathyroid gland def: "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" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] is_a: MP:0000678 ! abnormal parathyroid gland morphology [Term] id: MP:0003115 name: abnormal respiratory system development def: "aberrant differentiation of pulmonary tissues" [ISBN:0-683-40008-8] is_a: MP:0002132 ! abnormal respiratory system morphology [Term] id: MP:0003116 name: rickets def: "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" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "abnormal bone calcification" RELATED [] is_a: MP:0002896 ! abnormal bone mineralization [Term] id: MP:0003118 name: obsolete abnormal tracheal-bronchial branching morphogenesis def: "OBSOLETE. partial or complete failure of the trachea and bronchi to repeatedly divide during development of the lung" [https://orcid.org/0000-0003-4606-0597] is_obsolete: true consider: MP:0011024 consider: MP:0011025 consider: MP:0011027 [Term] id: MP:0003119 name: abnormal digestive system development def: "abnormal formation of the organ system that converts ingested food to nutrients and energy" [https://orcid.org/0000-0003-4606-0597] is_a: MP:0000462 ! abnormal digestive system morphology [Term] id: MP:0003120 name: abnormal tracheal cartilage morphology def: "any structural anomaly of the cartilaginous structures that support the trachea and prevent it from collapsing" [https://orcid.org/0000-0003-4606-0597, J:97123] is_a: MP:0000163 ! abnormal cartilage morphology is_a: MP:0002282 ! abnormal trachea morphology [Term] id: MP:0003121 name: genetic imprinting def: "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" [GO:0071514] synonym: "genomic imprinting" EXACT [] is_a: MP:0005384 ! cellular phenotype [Term] id: MP:0003122 name: maternal imprinting def: "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" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0003121 ! genetic imprinting [Term] id: MP:0003123 name: paternal imprinting def: "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" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0003121 ! genetic imprinting [Term] id: MP:0003124 name: hypospadia def: "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" [ISBN:0683400088] subset: CvDC_Terms synonym: "hypospadias" EXACT [] synonym: "hypospadis" EXACT [] xref: Fyler:4504 is_a: MP:0011796 ! abnormal external urethral orifice morphology [Term] id: MP:0003125 name: abnormal septation of the cloaca def: "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" [https://orcid.org/0000-0003-4606-0597, J:91491] is_a: MP:0010115 ! abnormal embryonic cloaca morphology [Term] id: MP:0003126 name: abnormal external female genitalia morphology def: "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" [https://orcid.org/0000-0002-6490-7723] subset: IMPC subset: Sanger_Terms synonym: "abnormal cunnus" EXACT [] synonym: "abnormal external female genital organs" EXACT [] synonym: "abnormal external female genitals" RELATED [] synonym: "abnormal organa genitalia feminina externa" RELATED [] synonym: "abnormal vulva morphology" EXACT [] synonym: "vulva dysplasia" EXACT [] synonym: "vulval defects" EXACT [] is_a: MP:0009208 ! abnormal female genitalia morphology [Term] id: MP:0003127 name: abnormal clitoris morphology def: "any structural anomaly of the small, erectile body located at the anterior end of the vulva" [ISBN:0-683-40008-8] is_a: MP:0003126 ! abnormal external female genitalia morphology [Term] id: MP:0003128 name: splayed clitoris def: "flattened or spread out clitoris" [https://orcid.org/0000-0003-4606-0597, J:91491] is_a: MP:0003127 ! abnormal clitoris morphology [Term] id: MP:0003129 name: persistent cloaca def: "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" [https://orcid.org/0000-0002-6490-7723] comment: Note that the term "urogenital sinus" may refer to the primitive urogenital sinus present as a transient developmental structure in most mammals or it may refer to a condition in which an unseptated cloaca persists in animals longer than normal. synonym: "cloacogenic bladder" EXACT [] synonym: "congenital cloaca" EXACT [] synonym: "urogenital sinus" RELATED [] is_a: MP:0000516 ! abnormal renal/urinary system morphology is_a: MP:0003119 ! abnormal digestive system development is_a: MP:0003936 ! abnormal reproductive system development [Term] id: MP:0003130 name: anal atresia def: "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" [https://orcid.org/0000-0002-6490-7723] subset: CvDC_Terms synonym: "atresia ani" EXACT [] synonym: "imperforate anus" EXACT [] synonym: "proctatresia" EXACT [] xref: Fyler:4402 xref: Fyler:4443 is_a: MP:0009053 ! abnormal anal canal morphology [Term] id: MP:0003131 name: increased erythrocyte cell number def: "greater number of the cells that transport oxygen, red blood cells, per unit" [https://orcid.org/0000-0003-3691-0324] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "increased definitive erythrocyte cell number" RELATED [] synonym: "increased erythrocyte count" EXACT [] is_a: MP:0001586 ! abnormal erythrocyte cell number is_a: MP:0013663 ! increased myeloid cell number [Term] id: MP:0003132 name: increased pre-B cell number def: "greater number of progenitor cells that form the B cell component of the immune system" [https://orcid.org/0000-0003-4606-0597, ISBN:0-8153-1691-7] synonym: "increased number of pre-B cells" EXACT [] is_a: MP:0002403 ! abnormal pre-B cell morphology is_a: MP:0005014 ! increased B cell number [Term] id: MP:0003133 name: increased early pro-B cell number def: "greater number of cells in the B lymphocyte lineage that undergo D-J rearrangement of the immunoglobulin heavy chain" [https://orcid.org/0000-0003-4606-0597, ISBN:0-8153-1691-7] synonym: "increased number of early pro-B cells" EXACT [] is_a: MP:0005019 ! abnormal early pro-B cell is_a: MP:0008186 ! increased pro-B cell number [Term] id: MP:0003134 name: increased late pro-B cell number def: "greater number of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain" [https://orcid.org/0000-0003-4606-0597, ISBN:0-8153-1691-7] synonym: "increased number of late pro-B cells" EXACT [] is_a: MP:0005020 ! abnormal late pro-B cell is_a: MP:0008186 ! increased pro-B cell number [Term] id: MP:0003135 name: increased erythroid progenitor cell number def: "greater numbers of progenitors of the erythrocyte lineage" [CL:0000038, https://orcid.org/0000-0003-4606-0597] synonym: "increased BFU-E number" RELATED [] synonym: "increased blast forming unit erythroid number" RELATED [] synonym: "increased burst forming unit erythroid number" RELATED [] synonym: "increased CFU-E number" RELATED [] synonym: "increased colony forming unit erythroid number" RELATED [] synonym: "increased erythroid precursors" EXACT [] synonym: "increased erythroid stem cell number" RELATED [] is_a: MP:0008801 ! abnormal erythroid progenitor cell morphology [Term] id: MP:0003136 name: yellow coat color def: "amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is maximally increased in agouti hair" [MGI:llw2] comment: This term is rodent specific. synonym: "yellow coat colour" EXACT [] is_a: MP:0012076 ! abnormal agouti pigmentation [Term] id: MP:0003137 name: abnormal impulse conducting system conduction def: "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" [MESH:A07.541.409, MGI:hdene] synonym: "abnormal bundle of Kent conduction" EXACT [] synonym: "abnormal cardiac muscle conduction" EXACT [] is_a: MP:0001544 ! abnormal cardiovascular system physiology [Term] id: MP:0003138 name: absent tympanic ring def: "missing the bony ring at the ear canal to which the tympanic membrane is attached" [https://orcid.org/0000-0002-6490-7723] is_a: MP:0000030 ! abnormal tympanic ring morphology [Term] id: MP:0003139 name: patent ductus arteriosus def: "failure of the fetal connection between the aorta and pulmonary artery to close after birth" [https://orcid.org/0000-0003-4606-0597] subset: CvDC_Terms synonym: "dominant ductus arteriosus" EXACT [] synonym: "patent arterial duct" EXACT [] synonym: "PDA" EXACT [] synonym: "persistent ductus arteriosus" EXACT [] xref: Fyler:2100 is_a: MP:0000364 ! abnormal vascular regression is_a: MP:0010564 ! abnormal fetal ductus arteriosus morphology [Term] id: MP:0003140 name: dilated heart atrium def: "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" [https://orcid.org/0000-0003-4606-0597] synonym: "atria dilation" EXACT [] synonym: "atrial dilation" EXACT [] synonym: "cardiac atrium dilation" EXACT [] synonym: "dilated atria" EXACT [] synonym: "dilated cardiac atria" EXACT [] synonym: "dilated cardiac atrium" EXACT [] synonym: "dilated heart atria" EXACT [] synonym: "heart atrium dilation" EXACT [] is_a: MP:0003105 ! abnormal heart atrium morphology is_a: MP:0004937 ! dilated heart [Term] id: MP:0003141 name: cardiac fibrosis def: "formation of fibrous tissue within the heart often resulting from inflammation or injury" [https://orcid.org/0000-0003-4606-0597] is_a: MP:0000266 ! abnormal heart morphology [Term] id: MP:0003142 name: anotia def: "congenital absence of one or both auricles of the ears" [https://orcid.org/0000-0002-6490-7723, PMID:10471511] is_a: MP:0005579 ! absent outer ear [Term] id: MP:0003143 name: enlarged otoliths def: "increased average size of the crystalline calciferous particles adhering to the otolithic membrane" [https://orcid.org/0000-0002-6490-7723, PMID:11152663] synonym: "enlarged ear crystals" EXACT [] synonym: "enlarged otoconial crystals" EXACT [] synonym: "enlarged statoconia" EXACT [] synonym: "enlarged statoliths" EXACT [] synonym: "giant otoconia" EXACT [] synonym: "increased otolith size" EXACT [] is_a: MP:0002894 ! abnormal otolith morphology [Term] id: MP:0003144 name: decreased otolith number def: "reduced average number of the crystalline calciferous particles adhering to the otolithic membrane" [https://orcid.org/0000-0002-6490-7723] synonym: "decreased number of otoliths" EXACT [] synonym: "decreased otoconial crystal number" EXACT [] synonym: "reduced number of otoconia" EXACT [] synonym: "reduced number of otoliths" EXACT [] synonym: "reduced otolith number" EXACT [] is_a: MP:0002894 ! abnormal otolith morphology [Term] id: MP:0003145 name: detached otolithic membrane def: "part or all of the otolithic (otoconial) membrane is abnormally separated from the sensory epithelium (macula) of the utricle and/or saccule" [https://orcid.org/0000-0002-6490-7723, PMID:22116368] synonym: "detached octoconial membrane" EXACT [] synonym: "detached otolithic part of statoconial membrane" EXACT [] is_a: MP:0002895 ! abnormal otolithic membrane morphology [Term] id: MP:0003146 name: absent cochlear ganglion def: "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)" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "absent cochlear ganglia" EXACT [] synonym: "absent spiral ganglion" EXACT [] is_a: MP:0002855 ! abnormal cochlear ganglion morphology [Term] id: MP:0003147 name: absent cochlea def: "absence or agenesis of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] is_a: MP:0000031 ! abnormal cochlea morphology [Term] id: MP:0003148 name: decreased cochlea coiling def: "a reduction in cochlear coiling or number of turns; in wild-type mice, the cochlea most commonly exhibits one and three-fourth turns" [https://orcid.org/0000-0002-6490-7723] synonym: "reduced cochlear coiling" EXACT [] is_a: MP:0000031 ! abnormal cochlea morphology [Term] id: MP:0003149 name: abnormal tectorial membrane morphology def: "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" [https://orcid.org/0000-0002-6490-7723] is_a: MP:0003169 ! abnormal scala media morphology [Term] id: MP:0003150 name: detached tectorial membrane def: "tectorial membrane is abnormally detached from the cochlear epithelium or spiral limbus" [https://orcid.org/0000-0002-6490-7723] is_a: MP:0003149 ! abnormal tectorial membrane morphology [Term] id: MP:0003151 name: absent tunnel of Corti def: "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" [https://orcid.org/0000-0002-6490-7723] is_a: MP:0013808 ! abnormal tunnel of Corti morphology [Term] id: MP:0003152 name: abnormal pillar cell differentiation def: "abnormal differentiation of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti" [https://orcid.org/0000-0002-6490-7723] is_a: MP:0003825 ! abnormal pillar cell morphology is_a: MP:0008304 ! abnormal organ of Corti supporting cell differentiation [Term] id: MP:0003153 name: early eyelid opening def: "early average time for the first postnatal eye opening" [https://orcid.org/0000-0003-4606-0597, J:92240] comment: In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later. synonym: "early eye lid opening" EXACT [] is_a: MP:0004874 ! abnormal timing of postnatal eyelid opening [Term] id: MP:0003154 name: abnormal soft palate morphology def: "any structural anomaly of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult" [https://orcid.org/0000-0003-4606-0597] synonym: "abnormal velum" EXACT [] synonym: "abnormal velum palatinum" EXACT [] is_a: MP:0013550 ! abnormal secondary palate morphology [Term] id: MP:0003155 name: abnormal telomere length def: "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" [https://orcid.org/0000-0003-3691-0324, MGI:hdene] is_a: MP:0010207 ! abnormal telomere morphology [Term] id: MP:0003156 name: abnormal leukocyte migration def: "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" [GO:0050900, MGI:acv] synonym: "abnormal leucocyte homing" NARROW [] synonym: "abnormal leucocyte migration" EXACT [] synonym: "abnormal leucocyte trafficking" EXACT [] synonym: "abnormal leukocyte homing" NARROW [] synonym: "abnormal leukocyte trafficking" EXACT [] synonym: "abnormal lymphocyte migration/homing" NARROW [] is_a: MP:0002442 ! abnormal leukocyte physiology is_a: MP:0003091 ! abnormal cell migration [Term] id: MP:0003157 name: impaired muscle relaxation def: "reduced or absent ability of muscle to lengthen following contractions" [https://orcid.org/0000-0003-4606-0597, J:92510] synonym: "myotonia" RELATED [] is_a: MP:0004036 ! abnormal muscle relaxation [Term] id: MP:0003158 name: dysphagia def: "difficulty in swallowing food or liquid" [ISBN:0-683-40008-8] synonym: "impaired swallowing" EXACT [] is_a: MP:0001663 ! abnormal digestive system physiology is_a: MP:0005449 ! abnormal food intake [Term] id: MP:0003159 name: abnormal esophageal smooth muscle morphology def: "any structural anomaly of the nonstriated, involuntary muscle tissue lining the esophagus" [https://orcid.org/0000-0003-4606-0597] synonym: "abnormal oesophageal smooth muscle morphology" EXACT [] is_a: MP:0000467 ! abnormal esophagus morphology is_a: MP:0000767 ! abnormal smooth muscle morphology [Term] id: MP:0003160 name: abnormal esophagus development def: "aberrant formation of the part of the digestive canal through which food passes from the pharynx to the stomach" [https://orcid.org/0000-0003-4606-0597] synonym: "abnormal esophageal development" EXACT [] synonym: "abnormal oesophageal development" EXACT [] synonym: "abnormal oesophagus development" EXACT [] is_a: MP:0000467 ! abnormal esophagus morphology is_a: MP:0003119 ! abnormal digestive system development [Term] id: MP:0003161 name: absent lateral semicircular canal def: "absence of the lateral long bony tube of the labyrinth that is involved in the sense of balance" [https://orcid.org/0000-0002-6490-7723] is_a: MP:0000037 ! abnormal lateral semicircular canal morphology [Term] id: MP:0003162 name: decreased lateral semicircular canal size def: "small size of the lateral long bony tube of the labyrinth that is involved in the sense of balance" [https://orcid.org/0000-0002-6490-7723] synonym: "decreased size of lateral semicircular canal" EXACT [] synonym: "reduced size of lateral semicircular canal" EXACT [] is_a: MP:0000037 ! abnormal lateral semicircular canal morphology [Term] id: MP:0003163 name: absent posterior semicircular canal alt_id: MP:0003676 def: "absence of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance" [https://orcid.org/0000-0002-6490-7723] synonym: "aplasia of posterior semicircular canal" EXACT [] is_a: MP:0002858 ! abnormal posterior semicircular canal morphology [Term] id: MP:0003164 name: decreased posterior semicircular canal size def: "small size of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] synonym: "decreased size of posterior semicircular canal" RELATED [] synonym: "reduced posterior semicircular canal size" EXACT [] synonym: "reduced size of posterior semicircular canal" EXACT [] is_a: MP:0002858 ! abnormal posterior semicircular canal morphology [Term] id: MP:0003165 name: absent superior semicircular canal def: "absence of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance" [ISBN:0-683-40008-8] synonym: "absent anterior semicircular canal" EXACT [] is_a: MP:0003069 ! abnormal superior semicircular canal morphology [Term] id: MP:0003166 name: decreased superior semicircular canal size def: "small size of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance" [ISBN:0-683-40008-8] synonym: "decreased size of superior semicircular canal" RELATED [] synonym: "reduced size of anterior semicircular canal" EXACT [] synonym: "reduced size of superior semicircular canal" EXACT [] is_a: MP:0003069 ! abnormal superior semicircular canal morphology [Term] id: MP:0003167 name: abnormal scala tympani morphology def: "any structural anomaly of the division of the spiral canal of the cochlea lying on the basal side of the spiral lamina" [https://orcid.org/0000-0002-6490-7723] is_a: MP:0000031 ! abnormal cochlea morphology [Term] id: MP:0003168 name: abnormal scala vestibuli morphology def: "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" [https://orcid.org/0000-0002-6490-7723] synonym: "abnormal perilymphatic space" EXACT [] synonym: "abnormal vestibular canal" EXACT [] synonym: "abnormal vestibular chamber" EXACT [] is_a: MP:0000031 ! abnormal cochlea morphology [Term] id: MP:0003169 name: abnormal scala media morphology def: "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)" [https://orcid.org/0000-0002-6490-7723, PMID:1680563] synonym: "abnormal cochlear chamber" EXACT [] synonym: "abnormal cochlear duct morphology" EXACT [] synonym: "abnormal Lowenberg scala" EXACT [] is_a: MP:0000031 ! abnormal cochlea morphology is_a: MP:0004426 ! abnormal cochlear labyrinth morphology [Term] id: MP:0003171 name: phenotypic reversion def: "wild-type phenotype restored from a previously characterized mutant phenotype" [MGI:llw2] synonym: "phenotypic instability" EXACT [] synonym: "revertant" EXACT [] is_a: MP:0002873 ! normal phenotype [Term] id: MP:0003172 name: abnormal lysosome physiology def: "ability of lysosomes to produce enzymes necessary for digestion of exogenous material is impaired" [MGI:llw2] is_a: MP:0014241 ! abnormal intracellular organelle physiology [Term] id: MP:0003173 name: decreased lysosomal enzyme secretion def: "production or release of glycoprotein hydrolytic enzymes is decreased compared to normal" [MGI:llw2] synonym: "reduced lysosomal enzyme secretion" EXACT [] is_a: MP:0003172 ! abnormal lysosome physiology [Term] id: MP:0003174 name: increased lysosomal enzyme secretion def: "production or secretion of glycoprotein hydrolytic enzymes is increased compared to normal" [MGI:llw2] is_a: MP:0003172 ! abnormal lysosome physiology [Term] id: MP:0003175 name: reversion by mitotic recombination def: "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" [MGI:llw2] is_a: MP:0003171 ! phenotypic reversion [Term] id: MP:0003176 name: reversion by viral sequence excision def: "restoration of wild-type phenotype by removal of a viral sequence or a viral- related sequence that produced a mutant phenotype" [MGI:llw2] is_a: MP:0003171 ! phenotypic reversion [Term] id: MP:0003177 name: allodynia def: "condition in which nonpainful stimuli evoke a pain sensation" [ISBN:0-683-40008-8] is_a: MP:0001970 ! abnormal pain threshold [Term] id: MP:0003178 name: left pulmonary isomerism def: "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" [https://orcid.org/0000-0003-4606-0597] is_a: MP:0000542 ! left-sided isomerism is_a: MP:0009570 ! abnormal right lung morphology is_a: MP:0010853 ! abnormal lung position or orientation [Term] id: MP:0003179 name: thrombocytopenia alt_id: MP:0002749 def: "fewer than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation" [https://orcid.org/0000-0003-3691-0324, MGI:hdene] subset: Europhenome_Terms subset: IMPC subset: Sanger_Terms synonym: "decreased platelet cell number" EXACT [] synonym: "decreased platelet count" RELATED [] synonym: "decreased thrombocyte number" EXACT [] synonym: "reduced platelet count" EXACT [] synonym: "thrombopenia" EXACT [] is_a: MP:0011898 ! abnormal platelet cell number is_a: MP:0013662 ! decreased myeloid cell number [Term] id: MP:0003180 name: abnormal pulmonary endothelial cell surface def: "altered morphology or area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell" [RGD:cur] is_a: MP:0000484 ! abnormal pulmonary artery morphology is_a: MP:0004007 ! abnormal lung vasculature morphology is_a: MP:0006055 ! abnormal vascular endothelial cell morphology [Term] id: MP:0003181 name: increased pulmonary endothelial cell surface def: "increased total area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell" [RGD:cur] is_a: MP:0003180 ! abnormal pulmonary endothelial cell surface [Term] id: MP:0003182 name: decreased pulmonary endothelial cell surface def: "reduced total area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell" [RGD:cur] synonym: "reduced pulmonary endothelial cell surface" EXACT [] is_a: MP:0003180 ! abnormal pulmonary endothelial cell surface [Term] id: MP:0003183 name: obsolete abnormal peptide metabolism def: "anomaly in the biochemical modification and homeostasis of molecules consisting of linked amino acids and their derivatives" [RGD:cur] comment: Removing duplicate term. is_obsolete: true replaced_by: MP:0013246 [Term] id: MP:0003184 name: increased angiotensin I-converting enzyme activity def: "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" [RGD:cur] synonym: "increased ACE activity" EXACT [] is_a: MP:0013254 ! abnormal angiotensin I-converting enzyme activity [Term] id: MP:0003185 name: decreased angiotensin I-converting enzyme activity def: "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" [RGD:cur] synonym: "decreased ACE activity" EXACT [] synonym: "reduced angiotensin I-converting enzyme activity" EXACT [] is_a: MP:0013254 ! abnormal angiotensin I-converting enzyme activity [Term] id: MP:0003186 name: abnormal redox activity def: "defect in the processes that maintain the redox environment of a cell or compartment within a cell" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0005621 ! abnormal cell physiology [Term] id: MP:0003187 name: obsolete increased reduction def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0003188 name: obsolete decreased reduction def: "OBSOLETE." [https://orcid.org/0000-0003-3691-0324] is_obsolete: true [Term] id: MP:0003189 name: fused joints def: "partial or complete absence of a functional articulation point of two or more bones" [https://orcid.org/0000-0003-3691-0324] synonym: "fusion of joints" EXACT [] synonym: "joint fusion" EXACT [] is_a: MP:0002932 ! abnormal joint morphology [Term] id: MP:0003190 name: fused synovial joints def: "partial or complete absence of separations containing synovial fluid between bones" [https://orcid.org/0000-0003-4606-0597] synonym: "fusion of synovial joints" EXACT [] synonym: "synovial joint fusion" EXACT [] is_a: MP:0003189 ! fused joints is_a: MP:0030804 ! abnormal synovial joint morphology [Term] id: MP:0003191 name: abnormal cellular cholesterol metabolism def: "impaired regulation of cellular cholesterol levels" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0005621 ! abnormal cell physiology is_a: MP:0013245 ! abnormal lipid metabolism [Term] id: MP:0003192 name: increased cholesterol efflux def: "greater level of removal of excess cholesterol from cells by an active transport pathway" [https://orcid.org/0000-0003-3691-0324, RGD:cur] is_a: MP:0003191 ! abnormal cellular cholesterol metabolism [Term] id: MP:0003193 name: decreased cholesterol efflux def: "reduced level of removal of excess cholesterol from cells by an active transport pathway" [https://orcid.org/0000-0003-3691-0324, RGD:cur] synonym: "reduced cholesterol efflux" EXACT [] is_a: MP:0003191 ! abnormal cellular cholesterol metabolism [Term] id: MP:0003194 name: abnormal frequency of paradoxical sleep def: "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" [https://orcid.org/0000-0003-3691-0324, RGD:cur] synonym: "abnormal frequency of rapid eye movement sleep" EXACT [] synonym: "abnormal frequency of REM sleep" EXACT [] is_a: MP:0012288 ! abnormal paradoxical sleep pattern [Term] id: MP:0003195 name: calcinosis def: "pathologic deposition of calcium salts in tissues" [MESH:C18.452.174.130, RGD:cur] is_a: MP:0004231 ! abnormal calcium ion homeostasis [Term] id: MP:0003196 name: calcified skin def: "pathologic deposition of calcium salts in the skin" [RGD:cur] synonym: "skin calcification" EXACT [] is_a: MP:0002060 ! abnormal skin morphology [Term] id: MP:0003197 name: nephrocalcinosis def: "diffusely scattered foci of calcification in the renal parenchyma, with microscopic or macroscopic deposits of calcium salts" [MESH:C12.777.419.590, RGD:cur] synonym: "calcified kidney" EXACT [] synonym: "kidney calcification" BROAD [] synonym: "renal calcification" BROAD [] is_a: MP:0002135 ! abnormal kidney morphology [Term] id: MP:0003198 name: calcified tendon def: "pathologic deposition of calcium salts in the tendons" [RGD:cur] synonym: "tendon calcification" BROAD [] is_a: MP:0005503 ! abnormal tendon morphology [Term] id: MP:0003199 name: calcified muscle def: "pathologic deposition of calcium salts in muscle" [RGD:cur] synonym: "muscle calcification" EXACT [] is_a: MP:0002108 ! abnormal muscle morphology [Term] id: MP:0003200 name: calcified joint def: "pathologic deposition of calcium salts in the joints" [RGD:cur] synonym: "joint calcification" BROAD [] is_a: MP:0002932 ! abnormal joint morphology [Term] id: MP:0003201 name: extremity edema def: "an accumulation of serous fluid in the limbs, paws and tail" [RGD:cur] synonym: "extremity oedema" EXACT [] is_a: MP:0001785 ! edema [Term] id: MP:0003202 name: abnormal neuron apoptosis def: "change in the timing or the number of neurons undergoing programmed cell death" [https://orcid.org/0000-0003-3691-0324] synonym: "abnormal neuronal apoptosis" EXACT [] synonym: "abnormal neuronal cell death" RELATED [] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0004811 ! abnormal neuron physiology [Term] id: MP:0003203 name: increased neuron apoptosis def: "increase in the number of neurons undergoing programmed cell death" [RGD:cur] synonym: "increased neuronal apoptosis" EXACT [] synonym: "increased neuronal cell death" EXACT [] is_a: MP:0003202 ! abnormal neuron apoptosis is_a: MP:0006042 ! increased apoptosis [Term] id: MP:0003204 name: decreased neuron apoptosis def: "decrease in the number of neurons undergoing programmed cell death" [RGD:cur] synonym: "decreased neuronal apoptosis" EXACT [] synonym: "decreased neuronal cell death" RELATED [] synonym: "reduced neuronal apoptosis" EXACT [] synonym: "reduced neuronal cell death" RELATED [] is_a: MP:0003202 ! abnormal neuron apoptosis is_a: MP:0006043 ! decreased apoptosis [Term] id: MP:0003205 name: testicular atrophy def: "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" [https://orcid.org/0000-0003-3691-0324, RGD:cur] synonym: "testis atrophy" EXACT [] is_a: MP:0001147 ! small testis [Term] id: MP:0003207 name: decreased cellular sensitivity to gamma-irradiation def: "decreased incidence of cell death following exposure to gamma-irradiation" [https://orcid.org/0000-0003-4606-0597] synonym: "decreased cellular susceptibility to gamma-irradiation" EXACT [] synonym: "increased cellular resistance to gamma-irradiation" EXACT [] synonym: "reduced cellular sensitivity to gamma-irradiation" EXACT [] is_a: MP:0004228 ! decreased cellular sensitivity to ionizing radiation [Term] id: MP:0003208 name: abnormal neuromere morphology def: "any structural anomaly of the segments of the developing neural tube" [https://orcid.org/0000-0003-4606-0597] is_a: MP:0002151 ! abnormal neural tube morphology [Term] id: MP:0003209 name: abnormal pulmonary elastic fiber morphology def: "any structural anomaly of a slender connective tissue fiber in pulmonary tissue characterized by great elasticity" [ISBN:0-683-40008-8, RGD:cur] synonym: "abnormal pulmonary elastic fibre morphology" EXACT [https://orcid.org/0000-0002-6490-7723] is_a: MP:0001175 ! abnormal lung morphology [Term] id: MP:0003210 name: abnormal heart elastic fiber morphology def: "any structural anomaly of the slender connective tissue fiber in cardiac tissue characterized by great elasticity" [ISBN:0-683-40008-8, RGD:cur] synonym: "abnormal cardiac elastic fiber morphology" EXACT [] synonym: "abnormal cardiac elastic fibre morphology" EXACT [] synonym: "abnormal heart elastic fibre morphology" EXACT [] is_a: MP:0009863 ! abnormal heart elastic tissue morphology [Term] id: MP:0003211 name: abnormal aorta elastic fiber morphology def: "any structural anomaly of the slender connective tissue fiber in aortic tissue characterized by great elasticity" [ISBN:0-683-40008-8, RGD:cur] synonym: "abnormal aorta elastic fibre morphology" EXACT [https://orcid.org/0000-0002-6490-7723] is_a: MP:0009862 ! abnormal aorta elastic tissue morphology [Term] id: MP:0003212 name: increased susceptibility to age related obesity def: "increased probability of excessive weight gain that is progressive with age" [RGD:cur] synonym: "decreased resistance to age related obesity" EXACT [] is_a: MP:0005455 ! increased susceptibility to weight gain [Term] id: MP:0003213 name: decreased susceptibility to age related obesity def: "reduced probability of excessive weight gain that is progressive with age" [RGD:cur] synonym: "increased resistance to age related obesity" EXACT [] is_a: MP:0010182 ! decreased susceptibility to weight gain [Term] id: MP:0003214 name: neurofibrillary tangles def: "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" [ISBN:0-683-40008-8, MESH:A08.663.609.520, RGD:cur] synonym: "neuritic plaques" RELATED [] synonym: "senile plaques" RELATED [] is_a: MP:0014062 ! nervous system inclusion bodies is_a: MP:0021002 ! brain lesion [Term] id: MP:0003215 name: renal interstitial fibrosis def: "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" [RGD:cur] is_a: MP:0003985 ! renal fibrosis is_a: MP:0011425 ! abnormal kidney interstitium morphology [Term] id: MP:0003216 name: absence seizures def: "impairment of consciousness without convulsions associated with sudden behavioral arrest and widespread bilaterally synchronous spike-and-wave discharges (SWDs) in the electroencephalogram (EEG)" [PMID:16725200, RGD:cur] synonym: "absence epilepsy" EXACT [] synonym: "spike wave seizures" EXACT [] synonym: "spike-wave seizures" EXACT [] is_a: MP:0000948 ! nonconvulsive seizures [Term] id: MP:0003217 name: increased spike-wave discharge type I def: "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" [RGD:cur] is_a: MP:0008840 ! abnormal spike wave discharge [Term] id: MP:0003218 name: decreased spike-wave discharge type I def: "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" [RGD:cur] synonym: "reduced spike-wave discharge type I" EXACT [] is_a: MP:0008840 ! abnormal spike wave discharge [Term] id: MP:0003219 name: increased spike-wave discharge type II def: "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" [RGD:cur] is_a: MP:0008840 ! abnormal spike wave discharge [Term] id: MP:0003220 name: decreased spike-wave discharge type II def: "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" [RGD:cur] synonym: "reduced spike-wave discharge type II" EXACT [] is_a: MP:0008840 ! abnormal spike wave discharge [Term] id: MP:0003221 name: abnormal cardiomyocyte apoptosis def: "change in the timing or the number of cardiac muscle cells undergoing programmed cell death" [RGD:cur] comment: Note that this is a generic term that applies to cardiomyocytes irrespective of the life stage of the organism, that is, regardless of whether cardiac muscle cells are still in the process of differentiation or terminally differentiated. synonym: "abnormal cardiac muscle cell apoptosis" EXACT [] is_a: MP:0001648 ! abnormal apoptosis is_a: MP:0002106 ! abnormal muscle physiology [Term] id: MP:0003222 name: increased cardiomyocyte apoptosis def: "increase in the number of cardiac muscle cells undergoing programmed cell death" [RGD:cur] synonym: "elevated cardiac muscle cell apoptosis" EXACT [] synonym: "elevated cardiomyocyte apoptosis" EXACT [] synonym: "increased cardiac muscle cell apoptosis" EXACT [] is_a: MP:0003221 ! abnormal cardiomyocyte apoptosis is_a: MP:0006042 ! increased apoptosis [Term] id: MP:0003223 name: decreased cardiomyocyte apoptosis def: "decrease in the number of cardiac muscle cells undergoing programmed cell death" [RGD:cur] synonym: "decreased cardiac muscle cell apoptosis" EXACT [] synonym: "reduced cardiac muscle cell apoptosis" EXACT [] synonym: "reduced cardiomyocyte apoptosis" EXACT [] is_a: MP:0003221 ! abnormal cardiomyocyte apoptosis is_a: MP:0006043 ! decreased apoptosis [Term] id: MP:0003224 name: neuron degeneration def: "a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses" [ISBN:0-683-40008-8] is_a: MP:0002229 ! neurodegeneration is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0003225 name: axonal dystrophy def: "axon degeneration that may result from genetic abnormalities or inadequate or faulty metabolism" [RGD:cur] is_a: MP:0005405 ! axon degeneration [Term] id: MP:0003226 name: absent cochlear modiolus def: "absence of the central cone shaped core of spongy bone about which turns the spiral canal" [https://orcid.org/0000-0002-6490-7723, ISBN:0-683-40008-8] is_a: MP:0003309 ! abnormal cochlear modiolus morphology [Term] id: MP:0003227 name: abnormal vascular branching morphogenesis def: "increase, decrease or anomaly in the process by which new vessels sprout off pre-existing vessels" [https://orcid.org/0000-0003-4606-0597] is_a: MP:0000260 ! abnormal angiogenesis [Term] id: MP:0003228 name: abnormal sinus venosus morphology def: "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" [https://orcid.org/0000-0003-4606-0597] synonym: "abnormal sinus venosus" BROAD [] is_a: MP:0000267 ! abnormal heart development [Term] id: MP:0003229 name: abnormal vitelline vasculature morphology def: "any structural anomaly of the vascular network that supplies the yolk sac" [https://orcid.org/0000-0003-3691-0324] subset: IMPC_Prenatal synonym: "abnormal omphalomesenteric vasculature" EXACT [] synonym: "abnormal yolk sac vasculature" EXACT [] is_a: MP:0000259 ! abnormal vascular development is_a: MP:0002086 ! abnormal extraembryonic tissue morphology [Term] id: MP:0003230 name: abnormal umbilical artery morphology def: "any structural anomaly of the paired arteries that bring unoxygenated blood back to the placenta from the dorsal aorta through the umbilical cord" [https://orcid.org/0000-0003-3691-0324, ISBN:0-683-40008-8] is_a: MP:0003410 ! abnormal artery development is_a: MP:0012300 ! abnormal umbilical cord blood vessel morphology [Term] id: MP:0003231 name: abnormal placenta vasculature def: "any structural anomaly of the vessels of the placenta" [https://orcid.org/0000-0003-4606-0597] subset: IMPC_Prenatal synonym: "abnormal placental vasculature" EXACT [] is_a: MP:0001614 ! abnormal blood vessel morphology is_a: MP:0001711 ! abnormal placenta morphology [Term] id: MP:0003232 name: abnormal forebrain development def: "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)" [GO:0048853] subset: IMPC_Prenatal synonym: "abnormal prosencephalon development" EXACT [] is_a: MP:0000783 ! abnormal forebrain morphology is_a: MP:0000913 ! abnormal brain development [Term] id: MP:0003233 name: prolonged QT interval def: "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" [https://orcid.org/0000-0003-4606-0597, PMID:12114851] comment: A prolonged QT interval is a risk factor for ventricular tachyarrhythmias and sudden death. It varies with heart rate and for clinical relevance requires a correction for this, giving the QTc. synonym: "increased QT interval" EXACT [] synonym: "long QT syndrome" RELATED [] synonym: "widened QT interval" EXACT [] is_a: MP:0003899 ! abnormal QT interval [Term] id: MP:0003234 name: enhanced NMDA-mediated synaptic currents def: "increase in the measured amplitude, current density or duration of response to stimulation of NMDA receptors" [https://orcid.org/0000-0003-3691-0324] is_a: MP:0002888 ! abnormal NMDA-mediated synaptic currents [Term] id: MP:0003235 name: abnormal alisphenoid bone morphology def: "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" [https://orcid.org/0000-0003-4606-0597, ISBN:0-683-40008-8] synonym: "abnormal great wing of the sphenoid bone" EXACT [] synonym: "abnormal greater wing of the sphenoid bone" EXACT [] is_a: MP:0000104 ! abnormal sphenoid bone morphology [Term] id: MP:0003236 name: abnormal lens capsule morphology def: "any structural anomaly of the elastic, clear, membrane-like structure, that is outer most layer of the lens" [https://orcid.org/0000-0003-4606-0597, PMID:15483628] is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0003237 name: abnormal lens epithelium morphology def: "any structural anomaly in the one or more of the layers of epithelial cells in the lens" [https://orcid.org/0000-0003-4606-0597] subset: IMPC subset: Sanger_Terms is_a: MP:0001303 ! abnormal lens morphology [Term] id: MP:0003238 name: slow REM def: "decreased rapid, periodic, jerky movement of the eyes from average during certain stages of the sleep cycle when dreaming takes place" [RGD:cur] synonym: "slow rapid eye movement" EXACT [] is_a: MP:0012288 ! abnormal paradoxical sleep pattern [Term] id: MP:0003239 name: fast REM def: "increased rapid, periodic, jerky movement of the eyes from average during certain stages of the sleep cycle when dreaming takes place" [RGD:cur] synonym: "fast rapid eye movement" EXACT [] is_a: MP:0012288 ! abnormal paradoxical sleep pattern [Term] id: MP:0003240 name: loss of hippocampal neurons def: "loss of neurons in the hippocampal region of the brain, commonly due to an apoptotic event" [RGD:cur] is_a: MP:0009939 ! abnormal hippocampus neuron morphology [Term] id: MP:0003241 name: loss of cortex neurons def: "loss of neurons in the cortex region of the brain, commonly due to an apoptotic event" [RGD:cur] is_a: MP:0000788 ! abnormal cerebral cortex morphology [Term] id: MP:0003242 name: loss of basal ganglia neurons def: "loss of neurons in the basal ganglia of the brain, commonly due to an apoptotic event" [RGD:cur] is_a: MP:0006007 ! abnormal basal ganglion morphology [Term] id: MP:0003243 name: abnormal dopaminergic neuron morphology def: "any structural anomaly of the neurons that utilize dopamine as a neurotransmitter" [ISBN:0838580343] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0003244 name: loss of dopaminergic neurons def: "loss of the neurons that utilize dopamine as a neurotransmitter, commonly due to an apoptotic event" [RGD:cur] is_a: MP:0003243 ! abnormal dopaminergic neuron morphology [Term] id: MP:0003245 name: abnormal GABAergic neuron morphology def: "any structural anomaly of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter" [ISBN:0838580343] synonym: "abnormal GABA neuron morphology" RELATED [] synonym: "abnormal GABA neurons" EXACT [] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0003246 name: loss of GABAergic neurons def: "loss of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter, commonly due to an apoptotic event" [RGD:cur] synonym: "loss of GABA neurons" EXACT [] is_a: MP:0003245 ! abnormal GABAergic neuron morphology [Term] id: MP:0003247 name: abnormal glutaminergic neuron morphology def: "any structural anomaly of the neurons that utilize glutamate as a neurotransmitter" [ISBN:0838580343] synonym: "abnormal glutamatergic neuron morphology" EXACT [] is_a: MP:0002882 ! abnormal neuron morphology [Term] id: MP:0003248 name: loss of glutamate neurons def: "loss of the neurons that utilize glutamate as a neurotransmitter, commonly due to an apoptotic event" [RGD:cur] is_a: MP:0003247 ! abnormal glutaminergic neuron morphology [Term] id: MP:0003249 name: increased muscle free fatty acids level def: "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" [ISBN:0-683-40008-8, RGD:cur] synonym: "elevated muscle free fatty acid (FFA)" EXACT [] synonym: "increased muscle free fatty acid level" EXACT [] is_a: MP:0002106 ! abnormal muscle physiology is_a: MP:0005281 ! increased fatty acids level is_a: MP:0010358 ! abnormal free fatty acids level [Term] id: MP:0003250 name: absent gallbladder def: "absence of the organ which serves as a storage reservoir for bile" [ISBN:0-683-40008-8, NCBI:matt] synonym: "absent cholecyst" EXACT [] synonym: "absent gall bladder" EXACT [] is_a: MP:0005084 ! abnormal gallbladder morphology [Term] id: MP:0003251 name: gallbladder inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the gall bladder" [ISBN:0-683-40008-8, NCBI:matt] synonym: "gall bladder inflammation" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0005085 ! abnormal gallbladder physiology [Term] id: MP:0003252 name: abnormal bile duct physiology def: "any functional anomaly of the channels that secrete bile from the liver to the gall bladder and intestines" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0002139 ! abnormal hepatobiliary system physiology [Term] id: MP:0003253 name: dilated bile duct def: "the luminal space of one or more bile ducts is increased in volume or area, usually with an increase in contained fluid or bile" [https://orcid.org/0000-0003-3691-0324, NCBI:matt] synonym: "bile duct dilation" EXACT [] synonym: "dilated bile ducts" EXACT [] is_a: MP:0002928 ! abnormal bile duct morphology [Term] id: MP:0003254 name: bile duct inflammation def: "local accumulation of fluid, plasma proteins, and leukocytes in the bile ducts" [ISBN:0-683-40008-8, NCBI:matt] synonym: "cholangitis" EXACT [] is_a: MP:0001846 ! increased inflammatory response is_a: MP:0003252 ! abnormal bile duct physiology [Term] id: MP:0003255 name: bile duct proliferation def: "the appearance of an increased number of bile ducts in the liver; a sign of progressive liver disease" [NCBI:matt] synonym: "increased bile duct number" EXACT [] is_a: MP:0002928 ! abnormal bile duct morphology [Term] id: MP:0003256 name: biliary cirrhosis def: "liver damage to parenchymal cells due to obstruction of bile flow in the bile ducts" [MESH:C06.130.120.135.250.250, NCBI:matt] is_a: MP:0003252 ! abnormal bile duct physiology [Term] id: MP:0003257 name: abnormal abdominal wall morphology def: "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" [MESH:A01.047.050, NCBI:matt] is_a: MP:0003385 ! abnormal body wall morphology [Term] id: MP:0003258 name: hiatal hernia def: "protrusion of abdominal structures through the esophageal hiatus of the diaphragm" [ISBN:0-683-40008-8, MESH:C23.300.707.500.467, NCBI:matt] is_a: MP:0003257 ! abnormal abdominal wall morphology [Term] id: MP:0003259 name: nausea def: "gastric discomfort associated with the inclination to vomit" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0001664 ! abnormal digestion [Term] id: MP:0003260 name: vomiting def: "the retrograde expulsion of gastric contents through the oral cavity" [ISBN:0-683-40008-8, NCBI:matt] is_a: MP:0001664 ! abnormal digestion [Term] id: MP:0003261 name: hematemesis def: "vomiting of blood; indicative of bleeding in the upper gastrointestinal tract" [MESH:C06.405.227.400, NCBI:matt] synonym: "vomiting blood" EXACT [] is_a: MP:0003260 ! vomiting [Term] id: MP:0003262 name: intestinal/bowel diverticulum def: "a pouch or sac protruding from the intestinal or bowel wall" [NCBI:matt] is_a: MP:0000477 ! abnormal intestine morphology [Term] id: MP:0003263 name: obsolete abnormal cholesterol biosynthesis def: "OBSOLETE. altered ability to form cholesterol from constituent compounds" [NCBI:matt] is_obsolete: true [Term] id: MP:0003264 name: obsolete increased cholesterol biosynthesis def: "OBSOLETE. augmented rate at which cholesterol is formed from constituent compounds" [NCBI:matt] is_obsolete: true [Term] id: MP:0003265 name: obsolete decreased cholesterol biosynthesis def: "OBSOLETE. reduced rate at which cholesterol is formed from constituent compounds" [NCBI:matt] is_obsolete: true [Term] id: MP:0003266 name: biliary cyst def: "presence of one or more abnormal fluid-filled sacs within the bile ducts" [NCBI:matt] synonym: "biliary cysts" EXACT [] synonym: "choledochal cyst" EXACT [] synonym: "choledochal cysts" EXACT [] synonym: "choledochocele" EXACT [] synonym: "choledochoceles" EXACT [] synonym: "common bile duct cyst" EXACT [] synonym: "common bile duct cysts" EXACT [] synonym: "cystic bile duct" EXACT [] synonym: "cystic bile ducts" EXACT [] is_a: MP:0002928 ! abnormal bile duct morphology is_a: MP:0031310 ! abnormal cyst [Term] id: MP:0003267 name: constipation def: "incomplete, infrequent or difficult evacuation of fecal matter" [MESH:C23.888.821.150, NCBI:matt] subset: Europhenome_Terms subset: IMPC is_a: MP:0003866 ! abnormal defecation [