ZFIN Human Disease: Bloom syndrome

OBO ID: DOID:2717

Term Name:	Bloom syndrome		Search Ontology:
Synonyms:	Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome
Definition:	A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. (4)
References:	MESH:D001816 NCI:C2903 OMIM:210900 ORDO:125 SNOMEDCT_US_2023_03_01:4434006 UMLS_CUI:C0005859
Ontology:	Human Disease ( DOID:2717 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Bloom syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
BLM	blm	Bloom syndrome	210900

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)