rhizomelic chondrodysplasia punctata type 2 (DOID:0110852)
Alliance: disease page
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
Alt IDs: OMIM:222765, ICD10CM:Q77.3, MESH:C537607, ORDO:309796
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.