Ataxia Telangiectasia
Disease ID: disease_node_1426
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| Dbxref | GARD:5862, MESH:D001260, MIM:208900, NCI:C2887, SNOMEDCT_US_2023_03_01:68504005, UMLS_CUI:C0004135 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID, MESH |
| Synonyms | Boder-Sedgwick syndrome, Louis Bar syndrome |
| Mesh Id | D001260 |
| Mesh Label | Ataxia Telangiectasia |
| Mesh Subclassof | D020752, D013684, D020754, D030342, D049914, D000081207 |
| Doid Label | ataxia telangiectasia |
| Doid Description | An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to maligcy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_1426 |
| Doid Id | DOID_12704 |
| Label | Ataxia Telangiectasia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)