Term Name:	rhizomelic chondrodysplasia punctata type 2
Synonyms:	Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency, DHAPAT deficiency, Dihydroxyacetonephosphate Acyltransferase Deficiency, Glyceronephosphate O-Acyltransferase Deficiency, GNPAT deficiency, Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency, RCDP2
Definition:	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.
Ontology:	Human Disease [DOID:0110852]   ( DOID:0110852 )