Bloom syndrome

Summary
Synonym
  • 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.
Super Class
autosomal recessive disease syndrome
Disease Ontology
DOID:2717
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
641 BLM BLM RecQ like helicase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024