mismatch repair cancer syndrome 2
An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MSH2 mismatch repair gene. It is characterized by a high risk of many different types of childhood cancers, including hematological malignancies, brain tumors, intestinal polyposis, and colon cancer.
MONDO:0031219
mismatch repair cancer syndrome
is_a
MMRCS2
exact
MSH2-related constitutional mismatch repair deficiency syndrome
exact
mismatch repair cancer syndrome 2
exact
SPBC19G7.01c