spinocerebellar ataxia type 4

Term ID

DOID:0050957

Synonyms

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

• GARD:9970
• MESH:D020754
• MIM:600223
• ORDO:98765
• SNOMEDCT_US_2023_03_01:715755008
• UMLS_CUI:C0752122

Ontology

Human Disease   ( DOID:0050957 )