Bloom syndrome

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: blm

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008876 - hypodermis skeletal muscle layer

MONDO:0008876 - hypodermis skeletal muscle layer

MIM:

MIM:210900 - BLOOM SYNDROME; BLM

MIM:210900 - BLOOM SYNDROME; BLM

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)