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Metadata
ID DOID:2717
Name Bloom syndrome
Definition A syndrome 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

MESH:D001816

MIM:210900

NCI:C2903

ORDO:125

SNOMEDCT_US_2023_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]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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