OBO ID: DOID:0112182
Term Name: mismatch repair cancer syndrome Search Ontology:
Synonyms:
  • brain tumor-polyposis syndrome 1
  • BTP1 syndrome
  • BTPS1
  • childhood cancer syndrome
  • CMMR-D syndrome
  • CMMRDS
  • constitutional mismatch repair deficiency syndrome
  • MMR deficiency
  • Turcot syndrome
Definition: 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. (2)
References:
Ontology: Human Disease   (DOID:0112182)
OTHER mismatch repair cancer syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MLH1 Mismatch repair cancer syndrome 1 276300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None