Spinocerebellar ataxia, X-linked 4

Preferred Label : Spinocerebellar ataxia, X-linked 4;

CISMeF acronym : SCAX4;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : SCAX4; Ataxia-dementia syndrome, X-linked;

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

Inheritance : X-linked;

Prefixed ID : 301840;

Details

Origin ID

301840;

UMLS CUI

C1844933;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia, X-linked, 4 [MeSH concept]
- X-linked spinocerebellar ataxia type 4 [ORDO Disease]
- spinocerebellar ataxia, X-linked, 4 [MeSH Supplementary Concept]
DO Cross reference
- X-linked spinocerebellar ataxia 4 [DO Concept]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Ataxia [HPO term]
- Delayed ability to walk [HPO term]
- Dementia [HPO term]
- Morphological abnormality of the pyramidal tract [HPO term]
- Tremor [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- X-linked spinocerebellar ataxia type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia, X-linked, 4 [MeSH concept]
- X-linked spinocerebellar ataxia type 4 [ORDO Disease]
- X-linked spinocerebellar ataxia type 4 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia, X-linked, 4 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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