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General Information
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| Term |
mismatch repair cancer syndrome |
ID (Ontology) |
DOID:0112182 (Human Disease) |
| 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. |
| Also Known As |
"brain tumor-polyposis syndrome 1" ; "BTP1 syndrome" ; "BTPS1" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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mismatch repair cancer syndrome | 1 | for disease ribbon | mismatch repair cancer syndrome | 1 | model of | mismatch repair cancer syndrome | 1 |
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Relationships