ataxia telangiectasia (DOID:12704)
Alliance: disease page
Synonyms: Boder-Sedgwick syndrome; Louis Bar syndrome
Alt IDs: OMIM:208900, MESH:D001260, NCI:C2887, UMLS_CUI:C0004135
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.