Cerebellar ataxia and albinism

Preferred Label : Cerebellar ataxia and albinism;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Opca II, fickler-winkler type; Olivopontocerebellar ataxia II, fickler-winkler type;

Inheritance : Autosomal recessive;

Prefixed ID : 258300;

Details

Origin ID

258300;

UMLS CUI

C1850319;

Automatic exact mappings (from CISMeF team)
- Multiple system atrophy, cerebellar type [ORDO Disease]
Currated CISMeF NLP mapping
- olivopontocerebellar atrophy II, autosomal recessive [MeSH concept]
- olivopontocerebellar atrophy II, autosomal recessive [MeSH Supplementary Concept]
HPO term(s)
- Albinism [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dysarthria [HPO term]
- Head tremor [HPO term]
- Olivopontocerebellar atrophy [HPO term]
- Scanning speech [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- olivopontocerebellar atrophy II, autosomal recessive [MeSH Supplementary Concept]
- olivopontocerebellar atrophy II, autosomal recessive [MeSH concept]

Keyword's position in hierarchy(ies) :

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