Terminology Service for NFDI4Health
Bloom syndrome
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http://purl.obolibrary.org/obo/DOID_2717
A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. [ http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
Label
Bloom syndrome
Synonyms
- Bloom-Torre-Machacek syndrome
- Congenital Telangiectatic Erythema syndrome
Subsets
DO_FlyBase_slim, DO_rare_slim, NCIthesaurus
comment
OMIM mapping confirmed by DO. [SN].
has obo namespace
disease_ontology
id
DOID:2717