General Information of Disease (ID: DIS9KPML)

Disease Name Colorectal cancer, hereditary nonpolyposis, type 7
Synonyms HNPCC7; MLH3 hereditary nonpolyposis colon cancer; colorectal cancer, hereditary nonpolyposis, type 7; hereditary nonpolyposis colon cancer caused by mutation in MLH3
Definition Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene.
Disease Hierarchy
DISPA49R: Hereditary nonpolyposis colon cancer
DIS3HIWD: Autosomal dominant disease
DIS9KPML: Colorectal cancer, hereditary nonpolyposis, type 7
Disease Identifiers
MONDO ID
MONDO_0013725
MESH ID
C565777
UMLS CUI
C1858380
OMIM ID
614385
MedGen ID
346893

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MLH3 OT91PPBI Moderate Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.