Spinocerebellar ataxia 40

Preferred Label : Spinocerebellar ataxia 40;

Symbol : SCA40;

CISMeF acronym : SCA40;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the coiled-coil domain-containing protein 88C gene (CCDC88C, 611204.0004);

Prefixed ID : #616053;

Details

Origin ID

616053;

UMLS CUI

C4518336;

CISMeF manual mappings
- Spinocerebellar ataxia type 40 [ORDO Disease]
- spinocerebellar ataxia type 40 [DO Concept]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia type 40 (disorder) [SNOMED CT concept]
DO Cross reference
- spinocerebellar ataxia type 40 [DO Concept]
Genes related to phenotype
- Coiled-coil domain-containing protein 88c [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad-based gait [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Hyperreflexia [HPO term]
- Intention tremor [HPO term]
- Pontocerebellar atrophy [HPO term]
- Slowly progressive [HPO term]
- Spastic paraparesis [HPO term]
- Unsteady gait [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 40 [ORDO Disease]
See also inter- (CISMeF)
- 6-bromo-8-methylaminoimidazo(1,2-a)pyrazine-2-carbonitrile [MeSH Supplementary Concept]
- coiled-coil domain containing 88C [ORDO Gene]
- coiled-coil domain containing 88C [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia type 40 [ORDO Disease]
- Spinocerebellar ataxia type 40 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia type 40 [DO Concept]

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