ZFIN Human Disease: mismatch repair cancer syndrome

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:	OMIM:276300 ORDO:252202
Ontology:	Human Disease ( DOID:0112182 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER mismatch repair cancer syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MLH1	mlh1	Mismatch repair cancer syndrome 1	276300

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None