| Metadata | |
|---|---|
| ID | DOID:0070557 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070557 Copy |
| Name | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 |
| Definition | A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3. https://pubmed.ncbi.nlm.nih.gov/21885617/, https://pubmed.ncbi.nlm.nih.gov/22686558/ |
| Xrefs | |
| SKOS |
exactMatch MESH:C567656 exactMatch MIM:610185 exactMatch UMLS_CUI:C2750234 |
| Subsets |
DO_rare_slim |
| Synonyms |
CAMRQ syndrome 2 [EXACT] CAMRQ2 [EXACT] cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2 [EXACT] cerebellar ataxia, mental retardation, and disequilibrium syndrome 2 [EXACT] cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 [EXACT] |
| Parent Relationships |
is_a cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome |