Spinocerebellar ataxia, autosomal recessive 6

Preferred Label : Spinocerebellar ataxia, autosomal recessive 6;

Symbol : SCAR6;

CISMeF acronym : SCAR6;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Norwegian infantile onset ataxia; Cerebellar ataxia, infantile nonprogressive, autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : %608029;

Details

Origin ID

608029;

UMLS CUI

C1842676;

Currated CISMeF NLP mapping
- Infantile-onset autosomal recessive non progressive cerebellar ataxia (disorder) [SNOMED CT concept]
- Infantile-onset autosomal recessive nonprogressive cerebellar ataxia [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive 6 [MeSH concept]
- autosomal recessive spinocerebellar ataxia 6 [DO Concept]
- spinocerebellar ataxia, autosomal recessive 6 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive spinocerebellar ataxia 6 [DO Concept]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Clumsiness [HPO term]
- Congenital onset [HPO term]
- Delayed speech and language development [HPO term]
- Dysmetria [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Intention tremor [HPO term]
- Motor delay [HPO term]
- Nonprogressive [HPO term]
- Pes planus [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Speech delay [HPO term]
ORDO concept(s)
- Infantile-onset autosomal recessive nonprogressive cerebellar ataxia [ORDO Disease]
See also inter- (CISMeF)
- spinocerebellar ataxia, autosomal recessive 6 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile-onset autosomal recessive non progressive cerebellar ataxia (disorder) [SNOMED CT concept]
- Infantile-onset autosomal recessive nonprogressive cerebellar ataxia [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive 6 [MeSH concept]
- autosomal recessive spinocerebellar ataxia 6 [DO Concept]
- spinocerebellar ataxia, autosomal recessive 6 [MeSH Supplementary Concept]

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