Spinocerebellar ataxia, autosomal recessive 5

Preferred Label : Spinocerebellar ataxia, autosomal recessive 5;

Obsolete resource : true;

Moved to : 251300;

Alternative titles and symbols : Scar5; Cerebellar ataxia with mental retardation, optic atrophy, and skinabnormalities; Camos;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the zinc finger protein 592 (znf592, 613624.0001).;

Prefixed ID : 606937;

Details

Origin ID

606937;

UMLS CUI

C1847114;

Currated CISMeF NLP mapping
- CAMOS syndrome [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive 5 [MeSH concept]
- spinocerebellar ataxia, autosomal recessive 5 [MeSH Supplementary Concept]
ORDO concept(s)
- CAMOS syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CAMOS syndrome [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive 5 [MeSH concept]
- spinocerebellar ataxia, autosomal recessive 5 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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