Spinocerebellar ataxia, X-linked 5

Preferred Label : Spinocerebellar ataxia, X-linked 5;

Symbol : SCAX5;

CISMeF acronym : SCAX5;

Type : Phenotype or locus, molecular basis unknown;

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

Inheritance : X-linked recessive;

Prefixed ID : %300703;

Details

Origin ID

300703;

UMLS CUI

C2678048;

Currated CISMeF NLP mapping
- spinocerebellar ataxia, X-Linked 5 [MeSH concept]
- spinocerebellar ataxia, X-Linked 5 [MeSH Supplementary Concept]
DO Cross reference
- X-linked spinocerebellar ataxia 5 [DO Concept]
HPO term(s)
- Action tremor [HPO term]
- Ataxia [HPO term]
- Dysarthria [HPO term]
- Infantile onset [HPO term]
- Motor delay [HPO term]
- Neonatal hypotonia [HPO term]
- Nonprogressive [HPO term]
- Nystagmus [HPO term]
- X-linked recessive inheritance [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- X-linked non progressive cerebellar ataxia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spinocerebellar ataxia, X-Linked 5 [MeSH Supplementary Concept]
- spinocerebellar ataxia, X-Linked 5 [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients