| Metadata | |
|---|---|
| ID | DOID:0050957 |
| Name | spinocerebellar ataxia type 4 |
| Definition | An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy that has_material_basis_in heterozygous trinucleotide repeat expansion (GGCn) in the ZFHX3 gene on chromosome 16q22. https://pubmed.ncbi.nlm.nih.gov/38035881/, https://rarediseases.info.nih.gov/diseases/9970/spinocerebellar-ataxia-4 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715755008 |
| SKOS |
exactMatch GARD:9970 exactMatch MIM:600223 exactMatch ORDO:98765 exactMatch UMLS_CUI:C0752122 |
| Subsets |
DO_rare_slim |
| Synonyms |
SCA4 [EXACT] |
| Parent Relationships |