| Metadata | |
|---|---|
| ID | DOID:0111612 |
| Name | autosomal recessive spinocerebellar ataxia 3 |
| Definition | An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. https://www.ncbi.nlm.nih.gov/pubmed/11175288, https://www.ncbi.nlm.nih.gov/pubmed/4154794, https://www.ncbi.nlm.nih.gov/pubmed/4434170 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1204415006 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive spinocerebellar ataxia type 3 [EXACT] autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome [EXACT] autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome [EXACT] SCABD [EXACT] SCAR3 [EXACT] |
| Parent Relationships |