episodic ataxia

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Information
Disease name
episodic ataxia
Disease ID
DOID:963
Description
"A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement." [url:http\://en.wikipedia.org/wiki/Episodic_ataxia, url:http\://ghr.nlm.nih.gov/condition/episodic-ataxia]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
KCNB1 20 49,363,877 49,482,668 4
KCNA1 12 4,909,905 4,918,256 4
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:0050951
Cross Reference ID (Disease Ontology)
GARD:9851
Cross Reference ID (Disease Ontology)
MESH:C580065
Cross Reference ID (Disease Ontology)
ORDO:211062
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:421455009
Cross Reference ID (Disease Ontology)
UMLS_CUI:C1720189
Exact Synonym (Disease Ontology)
Isaacs syndrome
HPO alt_id (Human Phenotype Ontology)
HP:0006862
HPO alt_id (Human Phenotype Ontology)
HP:0007152
HPO alt_id (Human Phenotype Ontology)
HP:0007214
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0002131
OMIM Phenotype Series Number (OMIM)
PS160120
MedGen concept unique identifier (MedGen Concept name)
C1720189
MedGen unique identifier (MedGen Concept name)
314033