Search Ontology:
Human Disease
spinocerebellar ataxia type 4
- Term ID
- DOID:0050957
- Synonyms
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- Definition
- An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy, has_material_basis_in mutation in the SCA4 gene. https://rarediseases.info.nih.gov/diseases/9970/spinocerebellar-ataxia-4
- References
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- GARD:9970
- MESH:D020754
- MIM:600223
- ORDO:98765
- SNOMEDCT_US_2023_03_01:715755008
- UMLS_CUI:C0752122
- Ontology
- Human Disease ( DOID:0050957 )
- is a type of
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Genes Involved
Zebrafish Models