Spinocerebellar ataxia 41

Preferred Label : Spinocerebellar ataxia 41;

Symbol : SCA41;

CISMeF acronym : SCA41;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transient receptor potential cation channel, subfamily C, member 3 gene (TRPC3, 602345.0001);

Prefixed ID : #616410;

Details

Origin ID

616410;

UMLS CUI

C4225158;

CISMeF manual mappings
- Spinocerebellar ataxia type 41 [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia type 41 (disorder) [SNOMED CT concept]
- cerebellar ataxia type 41 [DO Concept]
DO Cross reference
- cerebellar ataxia type 41 [DO Concept]
Genes related to phenotype
- Transient receptor potential cation channel, subfamily C, member 3 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Postural instability [HPO term]
- Progressive [HPO term]
- Unsteady gait [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 41 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia type 41 [ORDO Disease]
- Spinocerebellar ataxia type 41 (disorder) [SNOMED CT concept]

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