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

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Human Diseases/Syndromes Beginning with "E"

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OMIM ID	Human 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:618180	Ectodermal Dysplasia 14, Hair/Tooth Type with or without Hypohidrosis; ECTD14
OMIM:618535	Ectodermal Dysplasia 15, Hypohidrotic/Hair Type; ECTD15
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:300291	Ectodermal Dysplasia and Immunodeficiency 1; EDAID1
OMIM:612132	Ectodermal Dysplasia and Immunodeficiency 2; EDAID2
OMIM:224800	Ectodermal Dysplasia and Neurosensory Deafness
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: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; EDSFS
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:618727	Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies; EDFAOB
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:130060	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1; EDSARTH1
OMIM:617821	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2; EDSARTH2
OMIM:130090	Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
OMIM:608763	Ehlers-Danlos Syndrome, Beasley-Cohen Type
OMIM:225320	Ehlers-Danlos Syndrome, Cardiac Valvular Type; EDSCV
OMIM:618000	Ehlers-Danlos Syndrome, Classic-Like, 2; EDSCLL2
OMIM:606408	Ehlers-Danlos Syndrome, Classic-Like; EDSCLL
OMIM:130000	Ehlers-Danlos Syndrome, Classic Type, 1; EDSCL1
OMIM:130010	Ehlers-Danlos Syndrome, Classic Type, 2; EDSCL2
OMIM:225410	Ehlers-Danlos Syndrome, Dermatosparaxis Type; EDSDERMS
OMIM:130020	Ehlers-Danlos Syndrome, Hypermobility Type; EDSHMB
OMIM:225400	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1; EDSKSCL1
OMIM:614557	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2; EDSKSCL2
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:130070	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1; EDSSPD1
OMIM:615349	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2; EDSSPD2
OMIM:612350	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3; EDSSPD3
OMIM:130050	Ehlers-Danlos Syndrome, Vascular Type; EDSVASC
OMIM:225310	Ehlers-Danlos Syndrome with Platelet Dysfunction From Fibronectin Abnormality
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:617948	Elliptocytosis 3; EL3
OMIM:225500	Ellis-Van Creveld Syndrome; EVC
OMIM:211380	Elsahy-Waters Syndrome; ESWS
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:618113	Encephalitis/Encephalopathy, Mild, with Reversible Myelin Vacuolization; MMERV
OMIM:613001	Encephalocraniocutaneous Lipomatosis; ECCL
OMIM:225700	Encephalomalacia, Multilocular
OMIM:614520	Encephalomyopathy, Mitochondrial, Due to Voltage-Dependent Anion Channel Deficiency
OMIM:610551	Encephalopathy, Acute, Infection-Induced (herpes-Specific), Susceptibility to, 1; IIAE1
OMIM:613002	Encephalopathy, Acute, Infection-Induced (herpes-Specific), Susceptibility to, 2; IIAE2
OMIM:614849	Encephalopathy, Acute, Infection-Induced (herpes-Specific), Susceptibility to, 5; IIAE5
OMIM:614850	Encephalopathy, Acute, Infection-Induced (herpes-Specific), Susceptibility to, 6; IIAE6
OMIM:616532	Encephalopathy, Acute, Infection-Induced (herpes-Specific), Susceptibility to, 7; IIAE7
OMIM:617900	Encephalopathy, Acute, Infection-Induced (herpes-Specific), Susceptibility to, 8; IIAE8
OMIM:608033	Encephalopathy, Acute, Infection-Induced, Susceptibility to, 3; IIAE3
OMIM:614212	Encephalopathy, Acute, Infection-Induced, Susceptibility to, 4; IIAE4
OMIM:618426	Encephalopathy, Acute, Infection-Induced, Susceptibility to, 9; IIAE9
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, 1; PEBEL1
OMIM:618321	Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2; PEBEL2
OMIM:618331	Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis; PEERB
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:131190	Endogenous Retroviral Pol-Like Sequence-1; ERPL1
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:607098	Enolase Alpha, Lung-Specific; ENO1B
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, Susceptibility to, 1; EV1
OMIM:618231	Epidermodysplasia Verruciformis, Susceptibility to, 2; EV2
OMIM:618267	Epidermodysplasia Verruciformis, Susceptibility to, 3; EV3
OMIM:618307	Epidermodysplasia Verruciformis, Susceptibility to, 4; EV4
OMIM:618309	Epidermodysplasia Verruciformis, Susceptibility to, 5; EV5
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: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:618832	Epilepsy, Early-Onset, with or without Developmental Delay; EPEDD
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:618074	Epilepsy, Familial Adult Myoclonic, 6; FAME6
OMIM:618075	Epilepsy, Familial Adult Myoclonic, 7; FAME7
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:617935	Epilepsy, Familial Focal, with Variable Foci 4; FFEVF4
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:618357	Epilepsy, Idiopathic Generalized, Susceptibility to, 15; EIG15
OMIM:618596	Epilepsy, Idiopathic Generalized, Susceptibility to, 16; EIG16
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:617924	Epilepsy, Juvenile Myoclonic, Susceptibility to, 10; EJM10
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:618876	Epilepsy, Progressive Myoclonic, 11; EPM11
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: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:616457	Epileptic Encephalopathy, Early Infantile, 50; EIEE50
OMIM:617339	Epileptic Encephalopathy, Early Infantile, 51; EIEE51
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:617771	Epileptic Encephalopathy, Early Infantile, 57; EIEE57
OMIM:617830	Epileptic Encephalopathy, Early Infantile, 58; EIEE58
OMIM:617904	Epileptic Encephalopathy, Early Infantile, 59; EIEE59
OMIM:617929	Epileptic Encephalopathy, Early Infantile, 60; EIEE60
OMIM:617933	Epileptic Encephalopathy, Early Infantile, 61; EIEE61
OMIM:617938	Epileptic Encephalopathy, Early Infantile, 62; EIEE62
OMIM:617976	Epileptic Encephalopathy, Early Infantile, 63; EIEE63
OMIM:618004	Epileptic Encephalopathy, Early Infantile, 64; EIEE64
OMIM:618008	Epileptic Encephalopathy, Early Infantile, 65; EIEE65
OMIM:618067	Epileptic Encephalopathy, Early Infantile, 66; EIEE66
OMIM:618141	Epileptic Encephalopathy, Early Infantile, 67; EIEE67
OMIM:618201	Epileptic Encephalopathy, Early Infantile, 68; EIEE68
OMIM:618285	Epileptic Encephalopathy, Early Infantile, 69; EIEE69
OMIM:618298	Epileptic Encephalopathy, Early Infantile, 70; EIEE70
OMIM:618328	Epileptic Encephalopathy, Early Infantile, 71; EIEE71
OMIM:618374	Epileptic Encephalopathy, Early Infantile, 72; EIEE72
OMIM:618379	Epileptic Encephalopathy, Early Infantile, 73; EIEE73
OMIM:618396	Epileptic Encephalopathy, Early Infantile, 74; EIEE74
OMIM:618437	Epileptic Encephalopathy, Early Infantile, 75; EIEE75
OMIM:618468	Epileptic Encephalopathy, Early Infantile, 76; EIEE76
OMIM:618557	Epileptic Encephalopathy, Early Infantile, 78; EIEE78
OMIM:618559	Epileptic Encephalopathy, Early Infantile, 79; EIEE79
OMIM:301044	Epileptic Encephalopathy, Early Infantile, 85, with or without Midline Brain Defects; EIEE85
OMIM:617711	Epileptic Encephalopathy, Infantile or Early Childhood, 1; IECEE1
OMIM:617829	Epileptic Encephalopathy, Infantile or Early Childhood, 2; IECEE2
OMIM:618012	Epileptic Encephalopathy, Infantile or Early Childhood, 3; IECEE3
OMIM:615923	Epiphyseal Chondrodysplasia, Miura Type; ECDM
OMIM:610797	Epiphyseal Dysplasia, Baumann Type
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:617719	Epiphyseal Dysplasia, Multiple, 7; EDM7
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:618924	Episodic Ataxia, Type 9; EA9
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:132850	Epstein-Barr Virus Insertion Site 1; EBVS1
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, Autosomal Recessive; ECYT2
OMIM:609820	Erythrocytosis, Familial, 3; ECYT3
OMIM:611783	Erythrocytosis, Familial, 4; ECYT4
OMIM:617907	Erythrocytosis, Familial, 5; ECYT5
OMIM:617980	Erythrocytosis, Familial, 6; ECYT6
OMIM:617981	Erythrocytosis, Familial, 7; ECYT7
OMIM:222800	Erythrocytosis, Familial, 8; ECYT8
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:617756	Erythrokeratodermia Variabilis Et Progressiva 5; EKVP5
OMIM:618531	Erythrokeratodermia Variabilis Et Progressiva 6; EKVP6
OMIM:133180	Erythroleukemia, Familial, Susceptibility To; FERLK
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: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; EXT1
OMIM:133701	Exostoses, Multiple, Type II; EXT2
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:133705	External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus
OMIM:618148	Extraoral Halitosis Due to Methanethiol Oxidase Deficiency; EHMTO
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

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