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Disease Ontology Browser
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.

Disease References using Mouse Models (14)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory