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Summary Literature (1)
DOID:12704 - ataxia telangiectasia

Disease Ontology 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.

Synonyms: Boder-Sedgwick syndrome, Louis Bar syndrome

Xenbase Genes : atm

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008840 - ataxia telangiectasia

MIM:
MIM:208900 - ATAXIA-TELANGIECTASIA; AT

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal recessive cerebellar ataxia (is_a)