DO_rare_slim rhizomelic chondrodysplasia punctata type 2 DOID:0110852 MIM:222765 Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency DHAPAT deficiency Dihydroxyacetonephosphate Acyltransferase Deficiency GNPAT deficiency disease_ontology ORDO:309796 MESH:C537607 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. Glyceronephosphate O-Acyltransferase Deficiency ICD10CM:Q77.3 Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency RCDP2 rhizomelic chondrodysplasia punctata