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| Term | ataxia telangiectasia | ID (Ontology) | DOID:12704 (Human Disease) |
| 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. | ||
| Also Known As | "Boder-Sedgwick syndrome" ; "Louis Bar syndrome" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal recessive disease__ cerebellar ataxia____________| autosomal recessive cerebellar ataxia |__ataxia telangiectasia 33 rec. |
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| Is a | autosomal recessive cerebellar ataxia | ||
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GARD:5862 MESH:D001260 MIM:208900 NCI:C2887 SNOMEDCT_US_2023_03_01:68504005 UMLS_CUI:C0004135 |
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