Visualize
Metadata
DOID DOID:2717
Name Bloom syndrome
Definition An autosomal recessive disease characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
http://ghr.nlm.nih.gov/condition/bloom-syndrome, https://en.wikipedia.org/wiki/Bloom_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/10823897, https://www.ncbi.nlm.nih.gov/pubmed/9482582
Xrefs

CSP2005:1254-7913

MESH:D001816

NCI2004_11_17:C2903

NCI:C2903

OMIM:210900

ORDO:125

SNOMEDCT_US_2018_03_01:4434006

UMLS_CUI:C0005859

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

Bloom-Torre-Machacek syndrome [EXACT]

Congenital Telangiectatic Erythema syndrome [EXACT]

Relationships

is_a autosomal recessive disease

Add an item to the term tracker