hereditary nonpolyposis colorectal cancer type 5

A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16.

Lynch syndrome 1

A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.

hereditary nonpolyposis colorectal cancer type 2

A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2.

hereditary nonpolyposis colorectal cancer type 4

A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22.

hereditary nonpolyposis colorectal cancer type 7

A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3.

hereditary nonpolyposis colorectal cancer type 6

A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22.

Muir-Torre syndrome

A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.

hereditary nonpolyposis colorectal cancer type 8

A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM.

nonsyndromic congenital nail disorder 4

A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13.