Disease-gene associations mined from literature

Human genes for rhizomelic chondrodysplasia punctata type 2

Rhizomelic chondrodysplasia punctata type 2 [DOID:0110852]

A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2.

Synonyms:  rhizomelic chondrodysplasia punctata type 2,  DOID:0110852,  Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency,  Dhapat Deficiency,  Dihydroxyacetonephosphate Acyltransferase Deficiency ...