Spinocerebellar ataxia, X-linked 2

Preferred Label : Spinocerebellar ataxia, X-linked 2;

CISMeF acronym : SCAX2;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Cerebellar ataxia with extrapyramidal involvement, early-onset; SCAX2;

Description : For a discussion of genetic heterogeneity of X-linked spinocerebellar ataxia (SCAX), see SCAX1 (302500).;

Inheritance : X-linked;

Prefixed ID : 302600;

Details

Origin ID

302600;

UMLS CUI

C1844885;

DO Cross reference
- X-linked spinocerebellar ataxia 2 [DO Concept]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Ataxia [HPO term]
- Late extrapyramidal signs [HPO term]
- X-linked inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia, X-linked, 2 [MeSH concept]
- spinocerebellar ataxia, X-linked, 2 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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