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 ...