| 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: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: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:226300 |
Enteropathy, Protein-Losing
|
| 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: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
|
Analysis Tools