| Metadata | |
|---|---|
| ID | DOID:12704 |
| Name | ataxia telangiectasia |
| Definition | An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia |
| Xrefs |
SNOMEDCT_US_2023_03_01:68504005 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
Boder-Sedgwick syndrome [EXACT] Louis Bar syndrome [EXACT] |
| Parent Relationships |