About   Help   FAQ
MGI Job Openings
Human Disease Vocabulary Browser
The current vocabulary contains human disease, syndrome, and condition terms from Online Mendelian Inheritance in Man (OMIM database).
Browse vocabulary terms by beginning character
 
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9
 
Human Diseases/Syndromes Beginning with "E"

To see all annotations for a disease, click the disease name.

OMIM IDHuman Disease
128290 Ear Antitragus, Tag at Base of
128300 Ear Exostoses
128400 Ear Flare
128500 Ear Folding
128900 Earlobe Attachment, Attached Vs Unattached
128950 Earlobe Crease
128980 Earlobes, Thickened, with Conductive Deafness From Incudostapedial Abnormalities
613601 Early Repolarization Associated with Ventricular Fibrillation
605105 Early Response to Neural Induction Gene
128600 Ear Malformation
128710 Ear Pits, Posterior Helical
129000 Earring Holes, Natural
128800 Ear without Helix
224700 Ebstein Anomaly (1 mouse models)
603669 Eccrine Syringofibroadenomatosis with Eyelid Abnormalities
129150 Echo Virus 11 Sensitivity; E11S
129490 Ectodermal Dysplasia 10a, Hypohidrotic/Hair/Nail Type, Autosomal Dominant;
224900 Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive; ECTD10B (2 mouse models)
614940 Ectodermal Dysplasia 11a, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant; ECTD11A
614941 Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive; ECTD11B
305100 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked; XHED (2 mouse models)
602032 Ectodermal Dysplasia 4, Hair/Nail Type; ECTD4
614927 Ectodermal Dysplasia 5, Hair/Nail Type; ECTD5
614928 Ectodermal Dysplasia 6, Hair/Nail Type; ECTD6
614929 Ectodermal Dysplasia 7, Hair/Nail Type; ECTD7
602401 Ectodermal Dysplasia 8, Hair/Tooth/Nail Type; ECTD8
614931 Ectodermal Dysplasia 9, Hair/Nail Type; ECTD9
224800 Ectodermal Dysplasia and Neurosensory Deafness
300301 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema; OLEDAID
612132 Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant
601375 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
225040 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum
225050 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia
300291 Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency
609944 Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
604536 Ectodermal Dysplasia/Skin Fragility Syndrome
613573 Ectodermal Dysplasia-Syndactyly Syndrome 1; EDSS1
613576 Ectodermal Dysplasia-Syndactyly Syndrome 2; EDSS2
129540 Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
129510 Ectodermal Dysplasia, Trichoodontoonychial Type
129550 Ectodermal Dysplasia with Adrenal Cyst
600906 Ectodermal Dysplasia with Mental Retardation and Syndactyly
601345 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type
129600 Ectopia Lentis 1, Isolated, Autosomal Dominant; ECTOL1
225100 Ectopia Lentis 2, Isolated, Autosomal Recessive; ECTOL2
225200 Ectopia Lentis Et Pupillae
601552 Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
129750 Ectopia Pupillae
129810 Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
129830 Ectrodactyly-Cleft Palate Syndrome
129900 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 1; EEC1
604292 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3; EEC3 (3 mouse models)
601348 Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
225290 Ectrodactyly-Polydactyly
129840 Edema, Familial Idiopathic, Prepubertal
614303 Edict Syndrome; EDICT
129850 Edinburgh Malformation Syndrome
225280 EEM Syndrome
614546 Efavirenz, Poor Metabolism of
129905 Egasyn
606408 Ehlers-Danlos-Like Syndrome Due to Tenascin-X Deficiency (1 mouse models)
130090 Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
225320 Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form
608763 Ehlers-Danlos Syndrome, Beasley-Cohen Type
601776 Ehlers-Danlos Syndrome, Musculocontractural Type 1; EDSMC1
615539 Ehlers-Danlos Syndrome, Musculocontractural Type 2; EDSMC2
130070 Ehlers-Danlos Syndrome, Progeroid Type, 1; EDSP1
615349 Ehlers-Danlos Syndrome, Progeroid Type, 2; EDSP2
130000 Ehlers-Danlos Syndrome, Type I (4 mouse models)
130010 Ehlers-Danlos Syndrome, Type II (2 mouse models)
130020 Ehlers-Danlos Syndrome, Type III
130050 Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant (2 mouse models)
305200 Ehlers-Danlos Syndrome, Type V
225400 Ehlers-Danlos Syndrome, Type VI; EDS6 (1 mouse models)
130060 Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant
225410 Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive (1 mouse models)
130080 Ehlers-Danlos Syndrome, Type VIII
225310 Ehlers-Danlos Syndrome with Platelet Dysfunction From Fibronectin Abnormality
614557 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss; EDSKMH
600002 Eiken Skeletal Dysplasia
130100 Elastosis Perforans Serpiginosa; EPS
130200 Electroencephalographic Peculiarity: 14 and 6 Per Sec. Positive Spike Phenomenon
130300 Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
130400 Electroencephalographic Peculiarity: Occipital Slow Beta Waves
256710 Elejalde Disease (1 mouse models)
611804 Elliptocytosis 1; EL1 (1 mouse models)
130600 Elliptocytosis 2; EL2
225450 Elliptocytosis, Atypical
225500 Ellis-Van Creveld Syndrome; EVC (1 mouse models)
609029 Emanuel Syndrome
310300 Emery-Dreifuss Muscular Dystrophy 1, X-Linked; EDMD1
181350 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant; EDMD2 (3 mouse models)
612998 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant; EDMD4 (1 mouse models)
612999 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant; EDMD5
614302 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant; EDMD7
130710 Emphysema, Congenital Lobar; CLE
602564 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation
130700 Emphysema, Hereditary Pulmonary (14 mouse models)
600907 Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
204690 Enamel-Renal Syndrome; ERS
613001 Encephalocraniocutaneous Lipomatosis; ECCL
225700 Encephalomalacia, Multilocular
614520 Encephalomyopathy, Mitochondrial, Due to Voltage-Dependent Anion Channel Deficiency
608033 Encephalopathy, Acute, Infection-Induced, Susceptibility to, 3; IIAE3
614212 Encephalopathy, Acute, Infection-Induced, Susceptibility to, 4; IIAE4
225740 Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
602473 Encephalopathy, Ethylmalonic; EE (1 mouse models)
604218 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies; FENIB (3 mouse models)
614388 Encephalopathy, Lethal, Due to Defective Mitochondrial and Peroxisomal Fission; EMPF
300673 Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations
130950 Encephalopathy, Recurrent, of Childhood
225755 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
166000 Enchondromatosis, Multiple, Ollier Type
226100 Endocardial Fibroelastosis and Coarctation of Abdominal Aorta
226000 Endocardial Fibroelastosis; EFE
612651 Endocrine-Cerebroosteodysplasia; ECO
608089 Endometrial Cancer (5 mouse models)
131200 Endometriosis, Susceptibility to, 1 (1 mouse models)
226110 Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia
603034 Endplate Acetylcholinesterase Deficiency; EAD
268100 Enhanced S-Cone Syndrome; ESCS (2 mouse models)
131375 Enolase, Sperm Specific; ENO4
226150 Enterocolitis
226200 Enterokinase Deficiency
600351 Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency
226300 Enteropathy, Protein-Losing
600631 Enuresis, Nocturnal, 1; ENUR1
600808 Enuresis, Nocturnal, 2; ENUR2
131400 Eosinophilia, Familial
226350 Eosinophilic Fasciitis
131430 Eosinophilopenia
131450 Epiblepharon of Lower Lid
131460 Epiblepharon of Upper Lid
131500 Epicanthus
226400 Epidermodysplasia Verruciformis; EV
305350 Epidermodysplasia Verruciformis, X-Linked; EDVX; EDV2
131600 Epidermoid Cysts
131750 Epidermolysis Bullosa Dystrophica, Autosomal Dominant; DDEB
226600 Epidermolysis Bullosa Dystrophica, Autosomal Recessive; RDEB (5 mouse models)
226500 Epidermolysis Bullosa Dystrophica Neurotrophica
131850 Epidermolysis Bullosa Dystrophica, Pretibial
226700 Epidermolysis Bullosa, Junctional, Herlitz Type (3 mouse models)
226730 Epidermolysis Bullosa Junctionalis with Pyloric Atresia (1 mouse models)
226650 Epidermolysis Bullosa, Junctional, Non-Herlitz Type (5 mouse models)
226440 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation
609638 Epidermolysis Bullosa, Lethal Acantholytic
615028 Epidermolysis Bullosa, Nonspecific, Autosomal Recessive; EBNS
604129 Epidermolysis Bullosa Pruriginosa
601001 Epidermolysis Bullosa Simplex, Autosomal Recessive 1; EBSB1 (2 mouse models)
615425 Epidermolysis Bullosa Simplex, Autosomal Recessive 2; EBSB2
131760 Epidermolysis Bullosa Simplex, Dowling-Meara Type (4 mouse models)
131900 Epidermolysis Bullosa Simplex, Generalized
131800 Epidermolysis Bullosa Simplex, Localized
131950 Epidermolysis Bullosa Simplex, Ogna Type (4 mouse models)
607600 Epidermolysis Bullosa Simplex Superficialis; EBSS
609352 Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
131960 Epidermolysis Bullosa Simplex with Mottled Pigmentation; EBS-MP
226670 Epidermolysis Bullosa Simplex with Muscular Dystrophy (2 mouse models)
612138 Epidermolysis Bullosa Simplex with Pyloric Atresia
132000 Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails
131880 Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase
226735 Epidermolysis Bullosa with Diaphragmatic Hernia
113800 Epidermolytic Hyperkeratosis; EHK (4 mouse models)
132090 Epilepsy, Benign Occipital; BOE
600131 Epilepsy, Childhood Absence, Susceptibility to, 1; ECA1
607681 Epilepsy, Childhood Absence, Susceptibility to, 2; ECA2
612269 Epilepsy, Childhood Absence, Susceptibility to, 5; ECA5
611942 Epilepsy, Childhood Absence, Susceptibility to, 6; ECA6
601068 Epilepsy, Familial Adult Myoclonic, 1; FAME1
607876 Epilepsy, Familial Adult Myoclonic, 2; FAME2
613608 Epilepsy, Familial Adult Myoclonic, 3; FAME3
615127 Epilepsy, Familial Adult Myoclonic, 4; FAME4
615400 Epilepsy, Familial Adult Myoclonic, 5; FAME5
604364 Epilepsy, Familial Focal, with Variable Foci; FFEVF
600512 Epilepsy, Familial Temporal Lobe, 1; ETL1 (4 mouse models)
608096 Epilepsy, Familial Temporal Lobe, 2; ETL2
611630 Epilepsy, Familial Temporal Lobe, 3; ETL3
611631 Epilepsy, Familial Temporal Lobe, 4; ETL4
614417 Epilepsy, Familial Temporal Lobe, 5; ETL5
615697 Epilepsy, Familial Temporal Lobe, 6; ETL6
245570 Epilepsy, Focal, with Speech Disorder and with or without Mental Retardation;
613339 Epilepsy, Hot Water, 1; HWE1
613340 Epilepsy, Hot Water, 2; HWE2
600669 Epilepsy, Idiopathic Generalized; EIG (1 mouse models)
613060 Epilepsy, Idiopathic Generalized, Susceptibility to, 10; EIG10
607628 Epilepsy, Idiopathic Generalized, Susceptibility to, 11; EIG11 (1 mouse models)
614847 Epilepsy, Idiopathic Generalized, Susceptibility to, 12; EIG12
606972 Epilepsy, Idiopathic Generalized, Susceptibility to, 2; EIG2
608762 Epilepsy, Idiopathic Generalized, Susceptibility to, 3; EIG3
609750 Epilepsy, Idiopathic Generalized, Susceptibility to, 4; EIG4
611934 Epilepsy, Idiopathic Generalized, Susceptibility to, 5; EIG5
604827 Epilepsy, Idiopathic Generalized, Susceptibility to, 7; EIG7
612899 Epilepsy, Idiopathic Generalized, Susceptibility to, 8; EIG8
607682 Epilepsy, Idiopathic Generalized, Susceptibility to, 9; EIG9
607631 Epilepsy, Juvenile Absence, Susceptibility to, 1; EJA1
611136 Epilepsy, Juvenile Myoclonic, Susceptibility to, 5; EJM5 (2 mouse models)
614280 Epilepsy, Juvenile Myoclonic, Susceptibility to, 9; EJM9
254770 Epilepsy, Myoclonic Juvenile; EJM (2 mouse models)
600513 Epilepsy, Nocturnal Frontal Lobe, 1; ENFL1
603204 Epilepsy, Nocturnal Frontal Lobe, 2; ENFL2
605375 Epilepsy, Nocturnal Frontal Lobe, 3; ENFL3 (1 mouse models)
610353 Epilepsy, Nocturnal Frontal Lobe, 4; ENFL4
615005 Epilepsy, Nocturnal Frontal Lobe, 5; ENFL5
607221 Epilepsy, Partial, with Pericentral Spikes; PEPS
226800 Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation
612437 Epilepsy, Progressive Myoclonic 1B; EPM1B
611726 Epilepsy, Progressive Myoclonic 3, with or without Intracellular Inclusions;
254900 Epilepsy, Progressive Myoclonic 4, with or without Renal Failure;
613832 Epilepsy, Progressive Myoclonic 5; EPM5
614018 Epilepsy, Progressive Myoclonic 6; EPM6
266100 Epilepsy, Pyridoxine-Dependent; EPD
132300 Epilepsy, Reading
608105 Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp; EPRPDC
226850 Epilepsy-Telangiectasia
226810 Epilepsy with Bilateral Occipital Calcifications
300491 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
615369 Epileptic Encephalopathy, Childhood-Onset; EEOC
613402 Epileptic Encephalopathy, Early Infantile, 10; EIEE10
613721 Epileptic Encephalopathy, Early Infantile, 11; EIEE11
613722 Epileptic Encephalopathy, Early Infantile, 12; EIEE12
614558 Epileptic Encephalopathy, Early Infantile, 13; EIEE13
614959 Epileptic Encephalopathy, Early Infantile, 14; EIEE14
615006 Epileptic Encephalopathy, Early Infantile, 15; EIEE15
615338 Epileptic Encephalopathy, Early Infantile, 16; EIEE16
615473 Epileptic Encephalopathy, Early Infantile, 17; EIEE17
615476 Epileptic Encephalopathy, Early Infantile, 18; EIEE18
308350 Epileptic Encephalopathy, Early Infantile, 1; EIEE1 (4 mouse models)
300672 Epileptic Encephalopathy, Early Infantile, 2; EIEE2
609304 Epileptic Encephalopathy, Early Infantile, 3; EIEE3
612164 Epileptic Encephalopathy, Early Infantile, 4; EIEE4
613477 Epileptic Encephalopathy, Early Infantile, 5; EIEE5
613720 Epileptic Encephalopathy, Early Infantile, 7; EIEE7
300607 Epileptic Encephalopathy, Early Infantile, 8; EIEE8
300088 Epileptic Encephalopathy, Early Infantile, 9; EIEE9
610797 Epiphyseal Dysplasia, Baumann Type
226960 Epiphyseal Dysplasia, Microcephaly, and Nystagmus
132400 Epiphyseal Dysplasia, Multiple, 1; EDM1 (1 mouse models)
600204 Epiphyseal Dysplasia, Multiple, 2; EDM2
600969 Epiphyseal Dysplasia, Multiple, 3; EDM3
226900 Epiphyseal Dysplasia, Multiple, 4; EDM4
607078 Epiphyseal Dysplasia, Multiple, 5; EDM5 (1 mouse models)
614135 Epiphyseal Dysplasia, Multiple, 6; EDM6
226980 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus (2 mouse models)
609325 Epiphyseal Dysplasia, Multiple, with Miniepiphyses
132450 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness;
609324 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia
226950 Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
160120 Episodic Ataxia, Type 1; EA1 (1 mouse models)
108500 Episodic Ataxia, Type 2; EA2
606554 Episodic Ataxia, Type 3; EA3
606552 Episodic Ataxia, Type 4; EA4
613855 Episodic Ataxia, Type 5; EA5
612656 Episodic Ataxia, Type 6; EA6
611907 Episodic Ataxia, Type 7; EA7
128200 Episodic Kinesigenic Dyskinesia 1; EKD1
611031 Episodic Kinesigenic Dyskinesia 2; EKD2
300211 Episodic Muscle Weakness, X-Linked; EMWX
615040 Episodic Pain Syndrome, Familial, 1; FEPS1
615551 Episodic Pain Syndrome, Familial, 2; FEPS2
615552 Episodic Pain Syndrome, Familial, 3; FEPS3
132500 Epistaxis, Hereditary
601315 Epithelial Basolateral Chloride Conductance Regulator, Rabbit, Homolog of
122400 Epithelial Recurrent Erosion Dystrophy; ERED
226985 Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
132810 Epoxide Hydrolase 1, Microsomal; EPHX1
300872 Epsilon-Trimethyllysine Hydroxylase Deficiency; TMLHED
132850 Epstein-Barr Virus Insertion Site 1; EBVS1
226990 Epstein-Barr Virus, Susceptibility to Chronic Infection By
153650 Epstein Syndrome (4 mouse models)
227010 Ermine Phenotype
132990 Erythema Nodosum, Familial
227000 Erythema of Acral Regions
133000 Erythema Palmare Hereditarium
133020 Erythermalgia, Primary
612874 Erythrocyte Amp Deaminase Deficiency
245340 Erythrocyte Lactate Transporter Defect
133100 Erythrocytosis, Familial, 1; ECYT1 (2 mouse models)
263400 Erythrocytosis, Familial, 2; ECYT2 (1 mouse models)
609820 Erythrocytosis, Familial, 3; ECYT3
611783 Erythrocytosis, Familial, 4; ECYT4
615508 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige; EPKHE
609165 Erythroderma, Ichthyosiform, Congenital Reticular; CRIE
227090 Erythroderma, Lethal Congenital
133200 Erythrokeratodermia Variabilis Et Progressiva; EKVP (1 mouse models)
133180 Erythroleukemia, Familial
133239 Esophageal Cancer (1 mouse models)
133240 Esophageal Ring, Lower
610247 Esophagitis, Eosinophilic, 1; EOE1
613412 Esophagitis, Eosinophilic, 2; EOE2
133260 Esterase B; ESB
133270 Esterase C; ESC
133300 Esterase Es-2, Regulator for
133430 Estrogen Receptor 1; ESR1
615363 Estrogen Resistance; ESTRR
227150 Ethanolaminosis
600841 Eukaryotic Translation Elongation Factor 1 Alpha-1-Like 14; EEF1A1L14
227200 Eunuchoidism, Familial Hypogonadotropic (1 mouse models)
612219 Ewing Sarcoma; ES
133500 Exchondrosis of Pinna, Posterior
177650 Exfoliation Syndrome; XFS (1 mouse models)
607936 Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-Like
612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
133700 Exostoses, Multiple, Type I (1 mouse models)
133701 Exostoses, Multiple, Type II (1 mouse models)
600209 Exostoses, Multiple, Type III; EXT3
133600 Exostoses of Heel
133690 Exostoses with Anetodermia and Brachydactyly, Type E
603656 Exostosis, Dupuytren Subungual
603439 Expansile Bone Lesions
600057 Exstrophy of Bladder (1 mouse models)
133705 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus
133750 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly
133780 Exudative Vitreoretinopathy 1; EVR1 (1 mouse models)
305390 Exudative Vitreoretinopathy 2, X-Linked; EVR2 (1 mouse models)
605750 Exudative Vitreoretinopathy 3; EVR3
601813 Exudative Vitreoretinopathy 4; EVR4 (1 mouse models)
613310 Exudative Vitreoretinopathy 5; EVR5 (1 mouse models)
227210 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly
133800 Eyebrow, Whorl in
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support. 		last database update
04/08/2014
MGI 5.17 		The Jackson Laboratory