- Concept UI
- M0002734
- Scope Note
- An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
- Terms
-
Bloom Syndrome
Preferred Term
Term UI
T005260
Date01/01/1999
LexicalTag
EPO
ThesaurusID
-
Bloom-Torre-Machacek Syndrome
Term UI
T005261
Date02/23/1981
LexicalTag
EPO
ThesaurusID
-
Bloom's Syndrome
Term UI
T841039
Date04/18/2013
LexicalTag
NON
ThesaurusID
-
Congenital Telangiectatic Erythema
Term UI
T841040
Date04/18/2013
LexicalTag
NON
ThesaurusID