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:606408 |
Ehlers-Danlos Syndrome, Classic-Like, 1; EDSCLL1
|
OMIM:618000 |
Ehlers-Danlos Syndrome, Classic-Like, 2; EDSCLL2
|
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; EKNS
|
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 Neuroectodermal Melanolysosomal Syndrome
|
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:620461 |
Encephalitis, Acute, Infection-Induced, Susceptibility to, 12; IIAE12
|
OMIM:619441 |
Encephalitis, Acute, Infection (viral)-Induced, Susceptibility to, 11; IIAE11
|
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:619396 |
Encephalopathy, Acute, Infection-Induced (herpes-Specific), Susceptibility to, 10; IIAE10
|
OMIM:610551 |
Encephalopathy, Acute, Infection-Induced (herpes-Specific), Susceptibility to, 1; IIAE1
|
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:620704 |
Encephalopathy, Porphyria-Related; ENCEP
|
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:619218 |
Endove Syndrome, Limb-Brain Type; ENDOVESLB
|
OMIM:619217 |
Endove Syndrome, Limb-Only Type; ENDOVESL
|
OMIM:268100 |
Enhanced S-Cone Syndrome; ESCS
|
OMIM:607098 |
Enolase Alpha, Lung-Specific; ENO1B
|
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; EVX
|
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:226650 |
Epidermolysis Bullosa, Junctional 1a, Intermediate; JEB1A
|
OMIM:226700 |
Epidermolysis Bullosa, Junctional 1b, Severe; JEB1B
|
OMIM:619783 |
Epidermolysis Bullosa, Junctional 2a, Intermediate; JEB2A
|
OMIM:619784 |
Epidermolysis Bullosa, Junctional 2b, Severe; JEB2B
|
OMIM:245660 |
Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous; JEB2C
|
OMIM:619785 |
Epidermolysis Bullosa, Junctional 3a, Intermediate; JEB3A
|
OMIM:619786 |
Epidermolysis Bullosa, Junctional 3b, Severe; JEB3B
|
OMIM:619787 |
Epidermolysis Bullosa, Junctional 4, Intermediate; JEB4
|
OMIM:619816 |
Epidermolysis Bullosa, Junctional 5A, Intermediate; JEB5A
|
OMIM:226730 |
Epidermolysis Bullosa, Junctional 5B, with Pyloric Atresia; JEB5B
|
OMIM:619817 |
Epidermolysis Bullosa, Junctional 6, with Pyloric Atresia; JEB6
|
OMIM:614748 |
Epidermolysis Bullosa, Junctional 7, with Interstitial Lung Disease and Nephrotic Syndrome; JEB7
|
OMIM:226440 |
Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation
|
OMIM:609638 |
Epidermolysis Bullosa, Lethal Acantholytic; EBLA
|
OMIM:604129 |
Epidermolysis Bullosa Pruriginosa
|
OMIM:131760 |
Epidermolysis Bullosa Simplex 1a, Generalized Severe; EBS1A
|
OMIM:131900 |
Epidermolysis Bullosa Simplex 1b, Generalized Intermediate; EBS1B
|
OMIM:131800 |
Epidermolysis Bullosa Simplex 1c, Localized; EBS1C
|
OMIM:601001 |
Epidermolysis Bullosa Simplex 1d, Generalized, Intermediate or Severe, Autosomal Recessive; EBS1D
|
OMIM:619555 |
Epidermolysis Bullosa Simplex 2a, Generalized Severe; EBS2A
|
OMIM:619588 |
Epidermolysis Bullosa Simplex 2b, Generalized Intermediate; EBS2B
|
OMIM:619594 |
Epidermolysis Bullosa Simplex 2c, Localized; EBS2C
|
OMIM:619599 |
Epidermolysis Bullosa Simplex 2d, Generalized, Intermediate or Severe, Autosomal Recessive; EBS2D
|
OMIM:609352 |
Epidermolysis Bullosa Simplex 2e, with Migratory Circinate Erythema;
|
OMIM:131960 |
Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation; EBS2F
|
OMIM:615425 |
Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with Bp230 Deficiency; EBS3
|
OMIM:615028 |
Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive; EBS4
|
OMIM:131950 |
Epidermolysis Bullosa Simplex 5A, Ogna Type; EBS5A
|
OMIM:226670 |
Epidermolysis Bullosa Simplex 5B, with Muscular Dystrophy; EBS5B
|
OMIM:612138 |
Epidermolysis Bullosa Simplex 5c, with Pyloric Atresia; EBS5C
|
OMIM:616487 |
Epidermolysis Bullosa Simplex 5d, Generalized Intermediate, Autosomal Recessive; EBS5D
|
OMIM:617294 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, with or without Cardiomyopathy; EBS6
|
OMIM:609057 |
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness; EBS7
|
OMIM:607600 |
Epidermolysis Bullosa Simplex Superficialis; EBSS
|
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 1; EHK1
|
OMIM:620150 |
Epidermolytic Hyperkeratosis 2a, Autosomal Dominant; EHK2A
|
OMIM:620707 |
Epidermolytic Hyperkeratosis 2b, Autosomal Recessive; EHK2B
|
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, 1, Vitamin B6-Dependent; EPEO1
|
OMIM:618832 |
Epilepsy, Early-Onset, 2, with or without Developmental Delay; EPEO2
|
OMIM:620465 |
Epilepsy, Early-Onset, 3, with or without Developmental Delay; EPEO3
|
OMIM:266100 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent; EPEO4
|
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 Impaired Intellectual Development; FESD
|
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:602477 |
Epilepsy, Idiopathic Generalized, Susceptibility to, 17; EIG17
|
OMIM:619521 |
Epilepsy, Idiopathic Generalized, Susceptibility to, 18; EIG18
|
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:619191 |
Epilepsy, Progressive Myoclonic, 12; EPM12
|
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:132300 |
Epilepsy, Reading
|
OMIM:608105 |
Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp; EPRPDC
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OMIM:226850 |
Epilepsy-Telangiectasia
|
OMIM:226810 |
Epilepsy with Bilateral Occipital Calcifications
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OMIM:300491 |
Epilepsy, X-Linked 1, with Variable Learning Disabilities and Behavior Disorders; EPILX1
|
OMIM:301091 |
Epilepsy, X-Linked 2, with or without Impaired Intellectual Development and Dysmorphic Features; EPILX2
|
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
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OMIM:607078 |
Epiphyseal Dysplasia, Multiple, 5; EDM5
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OMIM:614135 |
Epiphyseal Dysplasia, Multiple, 6; EDM6
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OMIM:617719 |
Epiphyseal Dysplasia, Multiple, 7; EDM7
|
OMIM:226980 |
Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus
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OMIM:609325 |
Epiphyseal Dysplasia, Multiple, with Miniepiphyses
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OMIM:132450 |
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness;
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OMIM:609324 |
Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia
|
OMIM:226950 |
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
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OMIM:160120 |
Episodic Ataxia, Type 1; EA1
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OMIM:108500 |
Episodic Ataxia, Type 2; EA2
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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
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OMIM:616055 |
Episodic Ataxia, Type 8; EA8
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OMIM:618924 |
Episodic Ataxia, Type 9; EA9
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OMIM:128200 |
Episodic Kinesigenic Dyskinesia 1; EKD1
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OMIM:611031 |
Episodic Kinesigenic Dyskinesia 2; EKD2
|
OMIM:620245 |
Episodic Kinesigenic Dyskinesia 3; EKD3
|
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; 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: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:619209 |
Erythrokeratodermia Variabilis Et Progressiva 7; EKVP7
|
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
|