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Summary Literature (0)
DOID:2717 - Bloom syndrome

Disease Ontology Definition:A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.

Synonyms: Bloom-Torre-Machacek syndrome, Congenital Telangiectatic Erythema syndrome

Xenbase Genes : blm

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008876 - Bloom syndrome


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)