About   Help   FAQ
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
OMIM:128290 Ear Antitragus, Tag at Base of
OMIM:128300 Ear Exostoses
OMIM:128500 Ear Folding
OMIM:128980 Earlobes, Thickened, with Conductive Deafness From Incudostapedial Abnormalities
OMIM:613601 Early Repolarization Associated with Ventricular Fibrillation
OMIM:605105 Early Response to Neural Induction Gene
OMIM:128600 Ear Malformation
OMIM:128710 Ear Pits, Posterior Helical
OMIM:129000 Earring Holes, Natural
OMIM:128800 Ear without Helix
OMIM:224700 Ebstein Anomaly
OMIM:603669 Eccrine Syringofibroadenomatosis with Eyelid Abnormalities
OMIM:129150 Echo Virus 11 Sensitivity; E11S
OMIM:129490 Ectodermal Dysplasia 10a, Hypohidrotic/Hair/Nail Type, Autosomal Dominant; ECTD10A
OMIM:224900 Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive; ECTD10B
OMIM:614940 Ectodermal Dysplasia 11a, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant; ECTD11A
OMIM:614941 Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive; ECTD11B
OMIM:617337 Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type; ECTD12
OMIM:617392 Ectodermal Dysplasia 13, Hair/Tooth Type; ECTD13
OMIM:305100 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked; XHED
OMIM:602032 Ectodermal Dysplasia 4, Hair/Nail Type; ECTD4
OMIM:614927 Ectodermal Dysplasia 5, Hair/Nail Type; ECTD5
OMIM:614928 Ectodermal Dysplasia 6, Hair/Nail Type; ECTD6
OMIM:614929 Ectodermal Dysplasia 7, Hair/Nail Type; ECTD7
OMIM:602401 Ectodermal Dysplasia 8, Hair/Tooth/Nail Type; ECTD8
OMIM:614931 Ectodermal Dysplasia 9, Hair/Nail Type; ECTD9
OMIM:224800 Ectodermal Dysplasia and Neurosensory Deafness
OMIM:300301 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema; OLEDAID
OMIM:612132 Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant
OMIM:225280 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome;
OMIM:601375 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
OMIM:225040 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum
OMIM:225050 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia
OMIM:300291 Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency
OMIM:609944 Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
OMIM:616029 Ectodermal Dysplasia/Short Stature Syndrome; ECTDS
OMIM:604536 Ectodermal Dysplasia/Skin Fragility Syndrome
OMIM:613573 Ectodermal Dysplasia-Syndactyly Syndrome 1; EDSS1
OMIM:613576 Ectodermal Dysplasia-Syndactyly Syndrome 2; EDSS2
OMIM:129540 Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
OMIM:129510 Ectodermal Dysplasia, Trichoodontoonychial Type
OMIM:129550 Ectodermal Dysplasia with Adrenal Cyst
OMIM:600906 Ectodermal Dysplasia with Mental Retardation and Syndactyly
OMIM:601345 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type
OMIM:129600 Ectopia Lentis 1, Isolated, Autosomal Dominant; ECTOL1
OMIM:225100 Ectopia Lentis 2, Isolated, Autosomal Recessive; ECTOL2
OMIM:225200 Ectopia Lentis Et Pupillae
OMIM:129750 Ectopia Pupillae
OMIM:129810 Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
OMIM:129830 Ectrodactyly-Cleft Palate Syndrome
OMIM:129900 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 1; EEC1
OMIM:604292 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3;
OMIM:601348 Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
OMIM:225290 Ectrodactyly-Polydactyly
OMIM:615749 Eculizumab, Poor Response to
OMIM:129840 Edema, Familial Idiopathic, Prepubertal
OMIM:614303 Edict Syndrome; EDICT
OMIM:129850 Edinburgh Malformation Syndrome
OMIM:614546 Efavirenz, Poor Metabolism of
OMIM:129905 Egasyn
OMIM:130090 Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
OMIM:225320 Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form
OMIM:608763 Ehlers-Danlos Syndrome, Beasley-Cohen Type
OMIM:130000 Ehlers-Danlos Syndrome, Classic Type
OMIM:606408 Ehlers-Danlos Syndrome Due to Tenascin-X Deficiency
OMIM:130020 Ehlers-Danlos Syndrome, Hypermobility Type
OMIM:601776 Ehlers-Danlos Syndrome, Musculocontractural Type, 1; EDSMC1
OMIM:615539 Ehlers-Danlos Syndrome, Musculocontractural Type, 2; EDSMC2
OMIM:130080 Ehlers-Danlos Syndrome, Periodontal Type, 1; EDSPD1
OMIM:617174 Ehlers-Danlos Syndrome, Periodontal Type, 2; EDSPD2
OMIM:615349 Ehlers-Danlos Syndrome, Progeroid Type, 2; EDSP2
OMIM:130050 Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant
OMIM:305200 Ehlers-Danlos Syndrome, Type V
OMIM:225400 Ehlers-Danlos Syndrome, Type VI; EDS6
OMIM:130060 Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant
OMIM:225410 Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive
OMIM:225310 Ehlers-Danlos Syndrome with Platelet Dysfunction From Fibronectin Abnormality
OMIM:614557 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss; EDSKMH
OMIM:130070 Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies; EDSSLA
OMIM:600002 Eiken Syndrome
OMIM:130100 Elastosis Perforans Serpiginosa; EPS
OMIM:130200 Electroencephalographic Peculiarity: 14 and 6 Per Sec. Positive Spike Phenomenon
OMIM:130300 Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
OMIM:130400 Electroencephalographic Peculiarity: Occipital Slow Beta Waves
OMIM:256710 Elejalde Disease
OMIM:611804 Elliptocytosis 1; EL1
OMIM:130600 Elliptocytosis 2; EL2
OMIM:225500 Ellis-Van Creveld Syndrome; EVC
OMIM:609029 Emanuel Syndrome
OMIM:310300 Emery-Dreifuss Muscular Dystrophy 1, X-Linked; EDMD1
OMIM:181350 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant; EDMD2
OMIM:616516 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive; EDMD3
OMIM:612998 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant; EDMD4
OMIM:612999 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant; EDMD5
OMIM:614302 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant; EDMD7
OMIM:130710 Emphysema, Congenital Lobar; CLE
OMIM:602564 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation
OMIM:130700 Emphysema, Hereditary Pulmonary
OMIM:600907 Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
OMIM:613001 Encephalocraniocutaneous Lipomatosis; ECCL
OMIM:225700 Encephalomalacia, Multilocular
OMIM:614520 Encephalomyopathy, Mitochondrial, Due to Voltage-Dependent Anion Channel Deficiency
OMIM:608033 Encephalopathy, Acute, Infection-Induced, Susceptibility to, 3; IIAE3
OMIM:614212 Encephalopathy, Acute, Infection-Induced, Susceptibility to, 4; IIAE4
OMIM:225740 Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
OMIM:614388 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1; EMPF1
OMIM:617086 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2; EMPF2
OMIM:602473 Encephalopathy, Ethylmalonic; EE
OMIM:604218 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies; FENIB
OMIM:300673 Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations
OMIM:617668 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities; NELABA
OMIM:617669 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity; PEBAS
OMIM:617193 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum; PEBAT
OMIM:617186 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy; PEBEL
OMIM:617207 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy; PEAMO
OMIM:615924 Encephalopathy, Progressive, with or without Lipodystrophy; PELD
OMIM:130950 Encephalopathy, Recurrent, of Childhood
OMIM:225755 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
OMIM:166000 Enchondromatosis, Multiple, Ollier Type
OMIM:226100 Endocardial Fibroelastosis and Coarctation of Abdominal Aorta
OMIM:226000 Endocardial Fibroelastosis; EFE
OMIM:612651 Endocrine-Cerebroosteodysplasia; ECO
OMIM:608089 Endometrial Cancer
OMIM:131200 Endometriosis, Susceptibility to, 1
OMIM:144750 Endosteal Hyperostosis, Autosomal Dominant
OMIM:226110 Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia
OMIM:268100 Enhanced S-Cone Syndrome; ESCS
OMIM:131375 Enolase, Sperm Specific; ENO4
OMIM:226150 Enterocolitis
OMIM:226200 Enterokinase Deficiency
OMIM:600351 Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency
OMIM:600631 Enuresis, Nocturnal, 1; ENUR1
OMIM:600808 Enuresis, Nocturnal, 2; ENUR2
OMIM:131400 Eosinophilia, Familial
OMIM:226350 Eosinophilic Fasciitis
OMIM:131430 Eosinophilopenia
OMIM:226400 Epidermodysplasia Verruciformis; EV
OMIM:305350 Epidermodysplasia Verruciformis, X-Linked; EDVX; EDV2
OMIM:131600 Epidermoid Cysts
OMIM:131750 Epidermolysis Bullosa Dystrophica, Autosomal Dominant; DDEB
OMIM:226600 Epidermolysis Bullosa Dystrophica, Autosomal Recessive; RDEB
OMIM:226500 Epidermolysis Bullosa Dystrophica Neurotrophica
OMIM:131850 Epidermolysis Bullosa Dystrophica, Pretibial
OMIM:226700 Epidermolysis Bullosa, Junctional, Herlitz Type
OMIM:226730 Epidermolysis Bullosa Junctionalis with Pyloric Atresia
OMIM:226650 Epidermolysis Bullosa, Junctional, Non-Herlitz Type
OMIM:226440 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation
OMIM:609638 Epidermolysis Bullosa, Lethal Acantholytic; EBLA
OMIM:615028 Epidermolysis Bullosa, Nonspecific, Autosomal Recessive; EBNS
OMIM:604129 Epidermolysis Bullosa Pruriginosa
OMIM:601001 Epidermolysis Bullosa Simplex, Autosomal Recessive 1; EBSB1
OMIM:615425 Epidermolysis Bullosa Simplex, Autosomal Recessive 2; EBSB2
OMIM:131760 Epidermolysis Bullosa Simplex, Dowling-Meara Type; EBSDM
OMIM:131900 Epidermolysis Bullosa Simplex, Generalized
OMIM:617294 Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss; EBSSH
OMIM:131800 Epidermolysis Bullosa Simplex, Localized
OMIM:131950 Epidermolysis Bullosa Simplex, Ogna Type; EBSOG
OMIM:607600 Epidermolysis Bullosa Simplex Superficialis; EBSS
OMIM:609352 Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
OMIM:131960 Epidermolysis Bullosa Simplex with Mottled Pigmentation; EBSMP
OMIM:226670 Epidermolysis Bullosa Simplex with Muscular Dystrophy; EBSMD
OMIM:616487 Epidermolysis Bullosa Simplex with Nail Dystrophy; EBSND
OMIM:612138 Epidermolysis Bullosa Simplex with Pyloric Atresia; EBSPA
OMIM:132000 Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails
OMIM:131880 Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase
OMIM:226735 Epidermolysis Bullosa with Diaphragmatic Hernia
OMIM:113800 Epidermolytic Hyperkeratosis; EHK
OMIM:132090 Epilepsy, Benign Occipital; BOE
OMIM:600131 Epilepsy, Childhood Absence, Susceptibility to, 1; ECA1
OMIM:607681 Epilepsy, Childhood Absence, Susceptibility to, 2; ECA2
OMIM:612269 Epilepsy, Childhood Absence, Susceptibility to, 5; ECA5
OMIM:611942 Epilepsy, Childhood Absence, Susceptibility to, 6; ECA6
OMIM:617290 Epilepsy, Early-Onset, Vitamin B6-Dependent; EPVB6D
OMIM:601068 Epilepsy, Familial Adult Myoclonic, 1; FAME1
OMIM:607876 Epilepsy, Familial Adult Myoclonic, 2; FAME2
OMIM:613608 Epilepsy, Familial Adult Myoclonic, 3; FAME3
OMIM:615127 Epilepsy, Familial Adult Myoclonic, 4; FAME4
OMIM:615400 Epilepsy, Familial Adult Myoclonic, 5; FAME5
OMIM:604364 Epilepsy, Familial Focal, with Variable Foci 1; FFEVF1
OMIM:617116 Epilepsy, Familial Focal, with Variable Foci 2; FFEVF2
OMIM:617118 Epilepsy, Familial Focal, with Variable Foci 3; FFEVF3
OMIM:600512 Epilepsy, Familial Temporal Lobe, 1; ETL1
OMIM:608096 Epilepsy, Familial Temporal Lobe, 2; ETL2
OMIM:611630 Epilepsy, Familial Temporal Lobe, 3; ETL3
OMIM:611631 Epilepsy, Familial Temporal Lobe, 4; ETL4
OMIM:614417 Epilepsy, Familial Temporal Lobe, 5; ETL5
OMIM:615697 Epilepsy, Familial Temporal Lobe, 6; ETL6
OMIM:616436 Epilepsy, Familial Temporal Lobe, 7; ETL7
OMIM:616461 Epilepsy, Familial Temporal Lobe, 8; ETL8
OMIM:245570 Epilepsy, Focal, with Speech Disorder and with or without Mental Retardation; FESD
OMIM:616577 Epilepsy, Hearing Loss, and Mental Retardation Syndrome; EHLMRS
OMIM:613339 Epilepsy, Hot Water, 1; HWE1
OMIM:613340 Epilepsy, Hot Water, 2; HWE2
OMIM:600669 Epilepsy, Idiopathic Generalized; EIG
OMIM:613060 Epilepsy, Idiopathic Generalized, Susceptibility to, 10; EIG10
OMIM:607628 Epilepsy, Idiopathic Generalized, Susceptibility to, 11; EIG11
OMIM:614847 Epilepsy, Idiopathic Generalized, Susceptibility to, 12; EIG12
OMIM:611136 Epilepsy, Idiopathic Generalized, Susceptibility to, 13; EIG13
OMIM:616685 Epilepsy, Idiopathic Generalized, Susceptibility to, 14; EIG14
OMIM:606972 Epilepsy, Idiopathic Generalized, Susceptibility to, 2; EIG2
OMIM:608762 Epilepsy, Idiopathic Generalized, Susceptibility to, 3; EIG3
OMIM:609750 Epilepsy, Idiopathic Generalized, Susceptibility to, 4; EIG4
OMIM:611934 Epilepsy, Idiopathic Generalized, Susceptibility to, 5; EIG5
OMIM:604827 Epilepsy, Idiopathic Generalized, Susceptibility to, 7; EIG7
OMIM:612899 Epilepsy, Idiopathic Generalized, Susceptibility to, 8; EIG8
OMIM:607682 Epilepsy, Idiopathic Generalized, Susceptibility to, 9; EIG9
OMIM:607631 Epilepsy, Juvenile Absence, Susceptibility to, 1; EJA1
OMIM:614280 Epilepsy, Juvenile Myoclonic, Susceptibility to, 9; EJM9
OMIM:254770 Epilepsy, Myoclonic Juvenile; EJM
OMIM:600513 Epilepsy, Nocturnal Frontal Lobe, 1; ENFL1
OMIM:603204 Epilepsy, Nocturnal Frontal Lobe, 2; ENFL2
OMIM:605375 Epilepsy, Nocturnal Frontal Lobe, 3; ENFL3
OMIM:610353 Epilepsy, Nocturnal Frontal Lobe, 4; ENFL4
OMIM:615005 Epilepsy, Nocturnal Frontal Lobe, 5; ENFL5
OMIM:607221 Epilepsy, Partial, with Pericentral Spikes; PEPS
OMIM:226800 Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation
OMIM:616640 Epilepsy, Progressive Myoclonic, 10; EPM10
OMIM:612437 Epilepsy, Progressive Myoclonic, 1B; EPM1B
OMIM:611726 Epilepsy, Progressive Myoclonic, 3, with or without Intracellular Inclusions; EPM3
OMIM:254900 Epilepsy, Progressive Myoclonic, 4, with or without Renal Failure;
OMIM:614018 Epilepsy, Progressive Myoclonic, 6; EPM6
OMIM:616187 Epilepsy, Progressive Myoclonic 7; EPM7
OMIM:616230 Epilepsy, Progressive Myoclonic, 8; EPM8
OMIM:616540 Epilepsy, Progressive Myoclonic, 9; EPM9
OMIM:266100 Epilepsy, Pyridoxine-Dependent; EPD
OMIM:132300 Epilepsy, Reading
OMIM:608105 Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp; EPRPDC
OMIM:226850 Epilepsy-Telangiectasia
OMIM:226810 Epilepsy with Bilateral Occipital Calcifications
OMIM:300491 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
OMIM:615369 Epileptic Encephalopathy, Childhood-Onset; EEOC
OMIM:613721 Epileptic Encephalopathy, Early Infantile, 11; EIEE11
OMIM:613722 Epileptic Encephalopathy, Early Infantile, 12; EIEE12
OMIM:614558 Epileptic Encephalopathy, Early Infantile, 13; EIEE13
OMIM:614959 Epileptic Encephalopathy, Early Infantile, 14; EIEE14
OMIM:615006 Epileptic Encephalopathy, Early Infantile, 15; EIEE15
OMIM:615338 Epileptic Encephalopathy, Early Infantile, 16; EIEE16
OMIM:615473 Epileptic Encephalopathy, Early Infantile, 17; EIEE17
OMIM:615476 Epileptic Encephalopathy, Early Infantile, 18; EIEE18
OMIM:615744 Epileptic Encephalopathy, Early Infantile, 19; EIEE19
OMIM:308350 Epileptic Encephalopathy, Early Infantile, 1; EIEE1
OMIM:615833 Epileptic Encephalopathy, Early Infantile, 21; EIEE21
OMIM:615859 Epileptic Encephalopathy, Early Infantile, 23; EIEE23
OMIM:615871 Epileptic Encephalopathy, Early Infantile, 24; EIEE24
OMIM:615905 Epileptic Encephalopathy, Early Infantile, 25; EIEE25
OMIM:616056 Epileptic Encephalopathy, Early Infantile, 26; EIEE26
OMIM:616139 Epileptic Encephalopathy, Early Infantile, 27; EIEE27
OMIM:616211 Epileptic Encephalopathy, Early Infantile, 28; EIEE28
OMIM:616339 Epileptic Encephalopathy, Early Infantile, 29; EIEE29
OMIM:300672 Epileptic Encephalopathy, Early Infantile, 2; EIEE2
OMIM:616341 Epileptic Encephalopathy, Early Infantile, 30; EIEE30
OMIM:616346 Epileptic Encephalopathy, Early Infantile, 31; EIEE31
OMIM:616366 Epileptic Encephalopathy, Early Infantile, 32; EIEE32
OMIM:616409 Epileptic Encephalopathy, Early Infantile, 33; EIEE33
OMIM:616645 Epileptic Encephalopathy, Early Infantile, 34; EIEE34
OMIM:616647 Epileptic Encephalopathy, Early Infantile, 35; EIEE35
OMIM:300884 Epileptic Encephalopathy, Early Infantile, 36; EIEE36
OMIM:616981 Epileptic Encephalopathy, Early Infantile, 37; EIEE37
OMIM:617020 Epileptic Encephalopathy, Early Infantile, 38; EIEE38
OMIM:612949 Epileptic Encephalopathy, Early Infantile, 39; EIEE39
OMIM:609304 Epileptic Encephalopathy, Early Infantile, 3; EIEE3
OMIM:617065 Epileptic Encephalopathy, Early Infantile, 40; EIEE40
OMIM:617105 Epileptic Encephalopathy, Early Infantile, 41; EIEE41
OMIM:617106 Epileptic Encephalopathy, Early Infantile, 42; EIEE42
OMIM:617113 Epileptic Encephalopathy, Early Infantile, 43; EIEE43
OMIM:617132 Epileptic Encephalopathy, Early Infantile, 44; EIEE44
OMIM:617153 Epileptic Encephalopathy, Early Infantile, 45; EIEE45
OMIM:617162 Epileptic Encephalopathy, Early Infantile, 46; EIEE46
OMIM:617166 Epileptic Encephalopathy, Early Infantile, 47; EIEE47
OMIM:617276 Epileptic Encephalopathy, Early Infantile, 48; EIEE48
OMIM:617281 Epileptic Encephalopathy, Early Infantile, 49; EIEE49
OMIM:612164 Epileptic Encephalopathy, Early Infantile, 4; EIEE4
OMIM:616457 Epileptic Encephalopathy, Early Infantile, 50; EIEE50
OMIM:617339 Epileptic Encephalopathy, Early Infantile, 51; EIEE51
OMIM:617350 Epileptic Encephalopathy, Early Infantile, 52; EIEE52
OMIM:617389 Epileptic Encephalopathy, Early Infantile, 53; EIEE53
OMIM:617391 Epileptic Encephalopathy, Early Infantile, 54; EIEE54
OMIM:617599 Epileptic Encephalopathy, Early Infantile, 55; EIEE55
OMIM:617665 Epileptic Encephalopathy, Early Infantile, 56; EIEE56
OMIM:613477 Epileptic Encephalopathy, Early Infantile, 5; EIEE5
OMIM:607208 Epileptic Encephalopathy, Early Infantile, 6; EIEE6
OMIM:613720 Epileptic Encephalopathy, Early Infantile, 7; EIEE7
OMIM:300607 Epileptic Encephalopathy, Early Infantile, 8; EIEE8
OMIM:300088 Epileptic Encephalopathy, Early Infantile, 9; EIEE9
OMIM:615923 Epiphyseal Chondrodysplasia, Miura Type; ECDM
OMIM:610797 Epiphyseal Dysplasia, Baumann Type
OMIM:226960 Epiphyseal Dysplasia, Microcephaly, and Nystagmus
OMIM:132400 Epiphyseal Dysplasia, Multiple, 1; EDM1
OMIM:600204 Epiphyseal Dysplasia, Multiple, 2; EDM2
OMIM:600969 Epiphyseal Dysplasia, Multiple, 3; EDM3
OMIM:226900 Epiphyseal Dysplasia, Multiple, 4; EDM4
OMIM:607078 Epiphyseal Dysplasia, Multiple, 5; EDM5
OMIM:614135 Epiphyseal Dysplasia, Multiple, 6; EDM6
OMIM:226980 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus
OMIM:609325 Epiphyseal Dysplasia, Multiple, with Miniepiphyses
OMIM:132450 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness;
OMIM:609324 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia
OMIM:226950 Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
OMIM:160120 Episodic Ataxia, Type 1; EA1
OMIM:108500 Episodic Ataxia, Type 2; EA2
OMIM:606554 Episodic Ataxia, Type 3; EA3
OMIM:606552 Episodic Ataxia, Type 4; EA4
OMIM:613855 Episodic Ataxia, Type 5; EA5
OMIM:612656 Episodic Ataxia, Type 6; EA6
OMIM:611907 Episodic Ataxia, Type 7; EA7
OMIM:616055 Episodic Ataxia, Type 8; EA8
OMIM:128200 Episodic Kinesigenic Dyskinesia 1; EKD1
OMIM:611031 Episodic Kinesigenic Dyskinesia 2; EKD2
OMIM:300211 Episodic Muscle Weakness, X-Linked; EMWX
OMIM:615040 Episodic Pain Syndrome, Familial, 1; FEPS1
OMIM:615551 Episodic Pain Syndrome, Familial, 2; FEPS2
OMIM:615552 Episodic Pain Syndrome, Familial, 3; FEPS3
OMIM:132500 Epistaxis, Hereditary
OMIM:601315 Epithelial Basolateral Chloride Conductance Regulator, Rabbit, Homolog of
OMIM:122400 Epithelial Recurrent Erosion Dystrophy; ERED
OMIM:226985 Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
OMIM:132810 Epoxide Hydrolase 1, Microsomal; EPHX1
OMIM:132850 Epstein-Barr Virus Insertion Site 1; EBVS1
OMIM:226990 Epstein-Barr Virus, Susceptibility to Chronic Infection By
OMIM:153650 Epstein Syndrome; EPSTNS
OMIM:227010 Ermine Phenotype
OMIM:132990 Erythema Nodosum, Familial
OMIM:227000 Erythema of Acral Regions
OMIM:133000 Erythema Palmare Hereditarium
OMIM:133020 Erythermalgia, Primary
OMIM:612874 Erythrocyte Amp Deaminase Deficiency
OMIM:245340 Erythrocyte Lactate Transporter Defect
OMIM:133100 Erythrocytosis, Familial, 1; ECYT1
OMIM:263400 Erythrocytosis, Familial, 2; ECYT2
OMIM:609820 Erythrocytosis, Familial, 3; ECYT3
OMIM:611783 Erythrocytosis, Familial, 4; ECYT4
OMIM:615508 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige; EPKHE
OMIM:609165 Erythroderma, Ichthyosiform, Congenital Reticular; CRIE
OMIM:227090 Erythroderma, Lethal Congenital
OMIM:133200 Erythrokeratodermia Variabilis Et Progressiva 1; EKVP1
OMIM:617524 Erythrokeratodermia Variabilis Et Progressiva 2; EKVP2
OMIM:617525 Erythrokeratodermia Variabilis Et Progressiva 3; EKVP3
OMIM:617526 Erythrokeratodermia Variabilis Et Progressiva 4; EKVP4
OMIM:133180 Erythroleukemia, Familial
OMIM:133239 Esophageal Cancer
OMIM:133240 Esophageal Ring, Lower
OMIM:610247 Esophagitis, Eosinophilic, 1; EOE1
OMIM:613412 Esophagitis, Eosinophilic, 2; EOE2
OMIM:133260 Esterase B; ESB
OMIM:133270 Esterase C; ESC
OMIM:133300 Esterase Es-2, Regulator for
OMIM:133430 Estrogen Receptor 1; ESR1
OMIM:615363 Estrogen Resistance; ESTRR
OMIM:227150 Ethanolaminosis
OMIM:600841 Eukaryotic Translation Elongation Factor 1 Alpha-1-Like 14; EEF1A1L14
OMIM:616854 Even-Plus Syndrome; EVPLS
OMIM:612219 Ewing Sarcoma; ES
OMIM:133500 Exchondrosis of Pinna, Posterior
OMIM:616839 Exercise Intolerance, Riboflavin-Responsive; RREI
OMIM:177650 Exfoliation Syndrome; XFS
OMIM:612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
OMIM:133700 Exostoses, Multiple, Type I
OMIM:133701 Exostoses, Multiple, Type II
OMIM:600209 Exostoses, Multiple, Type III; EXT3
OMIM:133600 Exostoses of Heel
OMIM:133690 Exostoses with Anetodermia and Brachydactyly, Type E
OMIM:603656 Exostosis, Dupuytren Subungual
OMIM:603439 Expansile Bone Lesions
OMIM:600057 Exstrophy of Bladder
OMIM:133705 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus
OMIM:133750 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly
OMIM:133780 Exudative Vitreoretinopathy 1; EVR1
OMIM:305390 Exudative Vitreoretinopathy 2, X-Linked; EVR2
OMIM:605750 Exudative Vitreoretinopathy 3; EVR3
OMIM:601813 Exudative Vitreoretinopathy 4; EVR4
OMIM:613310 Exudative Vitreoretinopathy 5; EVR5
OMIM:616468 Exudative Vitreoretinopathy 6; EVR6
OMIM:617572 Exudative Vitreoretinopathy 7; EVR7
OMIM:227210 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly

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
10/10/2017
MGI 6.10
The Jackson Laboratory