Episodic ataxia, type 4

Preferred Label : Episodic ataxia, type 4;

Symbol : EA4;

CISMeF acronym : EA4; PATX;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Periodic vestibulocerebellar ataxia; PATX; Ataxia, periodic vestibulocerebellar;

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

Inheritance : Autosomal dominant;

Prefixed ID : %606552;

Details

Origin ID

606552;

UMLS CUI

C1847843;

Currated CISMeF NLP mapping
- Episodic ataxia type 4 [ICD-11 More detail]
- Episodic ataxia type 4 [ORDO Disease]
- Episodic ataxia type 4 (disorder) [SNOMED CT concept]
- episodic ataxia type 4 [DO Concept]
- episodic ataxia, type 4 [MeSH concept]
- episodic ataxia, type 4 [MeSH Supplementary Concept]
DO Cross reference
- episodic ataxia type 4 [DO Concept]
HPO term(s)
- Abnormality of ocular smooth pursuit [HPO term]
- Autosomal dominant inheritance [HPO term]
- Diplopia [HPO term]
- Episodic ataxia [HPO term]
- Esophoria [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Nausea [HPO term]
- Spasticity [HPO term]
- Tinnitus [HPO term]
- Vertigo [HPO term]
ORDO concept(s)
- Episodic ataxia type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Episodic ataxia type 4 [ORDO Disease]
- Episodic ataxia type 4 [ICD-11 More detail]
- Episodic ataxia type 4 (disorder) [SNOMED CT concept]
- episodic ataxia type 4 [DO Concept]
- episodic ataxia, type 4 [MeSH Supplementary Concept]
- episodic ataxia, type 4 [MeSH concept]

Keyword's position in hierarchy(ies) :

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