Episodic ataxia, type 3

Preferred Label : Episodic ataxia, type 3;

Symbol : EA3;

CISMeF acronym : EA3;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Ataxia, episodic, with vertigo and tinnitus;

Description : For a phenotypic description and a discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120).;

Inheritance : Autosomal dominant;

Prefixed ID : %606554;

Détails

Origin ID

606554;

UMLS CUI

C1847839;

Currated CISMeF NLP mapping
- Episodic ataxia type 3 [ORDO Disease]
- Episodic ataxia type 3 (disorder) [SNOMED CT concept]
- Episodic ataxia type 3 - 1q42 mutation [ICD-11 More detail]
- episodic ataxia type 3 [DO Concept]
- episodic ataxia, type 3 [MeSH concept]
- episodic ataxia, type 3 [MeSH Supplementary Concept]
DO Cross reference
- episodic ataxia type 3 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Diplopia [HPO term]
- Episodic ataxia [HPO term]
- Headache [HPO term]
- Muscle weakness [HPO term]
- Myokymia [HPO term]
- Nausea [HPO term]
- Onset [HPO term]
- Tinnitus [HPO term]
- Variable age at onset [HPO term]
- Vertigo [HPO term]
- Vomiting [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Episodic ataxia type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Episodic ataxia type 3 [ORDO Disease]
- Episodic ataxia type 3 (disorder) [SNOMED CT concept]
- Episodic ataxia type 3 - 1q42 mutation [ICD-11 More detail]
- episodic ataxia type 3 [DO Concept]
- episodic ataxia, type 3 [MeSH Supplementary Concept]
- episodic ataxia, type 3 [MeSH concept]

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