Disease Index
9,486 diseasesepilepsy-microcephaly-skeletal dysplasia syndrome
MeSH: C537662
epilepsy-telangiectasia syndrome
MeSH: C535497
epilepsy, familial focal, with variable foci
human disease
MeSH: C565785
epilepsy, familial focal, with variable foci 1
human disease
epilepsy, hot water, 1
human disease
epileptic encephalopathy with global cerebral demyelination
MeSH: C567847
epileptic encephalopathy, early infantile, 25
human disease
epileptic encephalopathy, early infantile, 52
human disease
epileptic encephalopathy, early infantile, 53
human disease
epileptic encephalopathy, early infantile, 54
human disease
epimetaphyseal skeletal dysplasia
human disease
epiphyseal dysplasia-hearing loss-dysmorphism syndrome
human disease
episodic ataxia
hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement
MeSH: C580065
episodic ataxia type 1
episodic ataxia characterized by attacks of ataxia lasting seconds/minutes induced by emotion/stress with myokymia during/between attacks; onset during childhood/adolescence; caused by mutation of KCNA1 encoding voltage-gated potassium channel KV1.1
episodic ataxia type 2
episodic ataxia characterized by acetazolamide-responsive attacks of ataxia lasting for hours/days (unlike EA1, which lasts up to minutes); caused by mutations in CACNA1A encoding P/Q-type voltage-gated calcium channel CaV2.1
ICD: G11.8MeSH: C535506
episodic ataxia type 3
Human disease
MeSH: C564697
episodic ataxia type 4
Human disease
MeSH: C564698
episodic ataxia type 5
Human disease
MeSH: C566601
episodic ataxia type 6
Human disease
MeSH: C567207
episodic ataxia type 7
Human disease
MeSH: C567459
episodic ataxia type 8
Human disease
episodic kinesigenic dyskinesia 1
dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in heterozygous mutation in the PRRT2 gene on chromosome 16p11
episodic kinesigenic dyskinesia 2
dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1
MeSH: C567026
epispadias
congenital disorder of urinary system
ICD: Q64.0MeSH: D004842
epithelial and subepithelial dystrophy
Human disease
epithelial basement membrane dystrophy
Human disease
MeSH: C535477
epithelial recurrent erosion dystrophy
human disease
MeSH: C565155
epithelial tumor of anal canal
epithelial neoplasm that involves the anal canal
epithelial tumor of small intestine
human disease
epithelial tumor of the appendix
epithelial neoplasm that involves the vermiform appendix