mismatch repair cancer syndrome 3
An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MSH6 mismatch repair gene is characterized by a high risk of childhood cancers, including hematological malignancies, brain tumors, and colorectal
MONDO:0031219
mismatch repair cancer syndrome
is_a
MMRCS3
exact
MSH6-related constitutional mismatch repair deficiency syndrome
exact
mismatch repair cancer syndrome 3
exact
SPCC285.16c