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DO Term : Bloom syndrome [DOID:2717] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
  • synonyms:
  • Bloom-Torre-Machacek syndrome,
  • 210900,
  • UMLS_CUI:C0005859,
  • NCI:C2903,
  • MESH:D001816,
  • ORDO:125,
  • Congenital Telangiectatic Erythema syndrome,
  • OMIM:210900,
  • SNOMEDCT_US_2023_03_01:4434006
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents