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DO Term : mismatch repair cancer syndrome [DOID:0112182] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.
  • synonyms:
  • CMMRDS,
  • BTPS1,
  • brain tumor-polyposis syndrome 1,
  • ORDO:252202,
  • Turcot syndrome,
  • constitutional mismatch repair deficiency syndrome,
  • CMMR-D syndrome,
  • OMIM:276300,
  • 276300,
  • BTP1 syndrome,
  • MMR deficiency,
  • childhood cancer syndrome
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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