Spinocerebellar ataxia 7

Preferred Label : Spinocerebellar ataxia 7;

Symbol : SCA7;

CISMeF acronym : OPCA3; SCA7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Opca with macular degeneration and external ophthalmoplegia; Autosomal dominant cerebellar ataxia, type II; Olivopontocerebellar atrophy III; Opca III; Opca with retinal degeneration; Adca, type II; OPCA3;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the ataxin 7 gene (SCA7, 607640.0001);

Prefixed ID : #164500;

Détails

Origin ID

164500;

UMLS CUI

C0752125;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant cerebellar ataxia type II [ORDO Disease]
- Olivopontocerebellar Atrophy [NCIt concept]
- olivopontocerebellar atrophies [MeSH Descriptor]
- spinocerebellar ataxias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Spinocerebellar Ataxia Type 7 [NCIt concept]
- Spinocerebellar ataxia type 7 [ICD-11 More detail]
- Spinocerebellar ataxia type 7 [ORDO Disease]
- Spinocerebellar ataxia type 7 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 7 [Disease (Nov.)]
- spinocerebellar ataxia type 7 [DO Concept]
- spinocerebellar ataxia type 7 [MeSH concept]
DO Cross reference
- spinocerebellar ataxia type 7 [DO Concept]
Genes related to phenotype
- Ataxin 7 [OMIM gene]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Chorea [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Genetic anticipation with paternal anticipation bias [HPO term]
- Hyperreflexia [HPO term]
- Macular degeneration [HPO term]
- Mental deterioration [HPO term]
- Nystagmus [HPO term]
- Olivopontocerebellar atrophy [HPO term]
- Optic atrophy [HPO term]
- Orofacial dyskinesia [HPO term]
- Pigmentary retinopathy [HPO term]
- Progressive cerebellar ataxia [HPO term]
- Progressive visual loss [HPO term]
- Slow saccadic eye movements [HPO term]
- Spasticity [HPO term]
- Supranuclear ophthalmoplegia [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 7 [ORDO Disease]
See also inter- (CISMeF)
- SCA7 gene [LOINC component]
- ataxin 7 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant cerebellar ataxia type 2 (disorder) [SNOMED CT concept]
- Spinocerebellar Ataxia Type 7 [NCIt concept]
- Spinocerebellar ataxia type 7 [ORDO Disease]
- Spinocerebellar ataxia type 7 [ICD-11 More detail]
- Spinocerebellar ataxia type 7 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 7 [Disease (Nov.)]
- spinocerebellar ataxia type 7 [MeSH concept]
- spinocerebellar ataxia type 7 [DO Concept]
Validated automatic mappings to NTBT
- Spinocerebellar Ataxia Type 7 [NCIt concept]

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