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. (DO)
rhizomelic chondrodysplasia punctata type 3
rhizomelic chondrodysplasia punctata type 5
Synonyms
Exact Synonyms:
Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
;
Chondrodysplasia punctata, rhizomelic, due to DHAPAT deficiency
;
DHAPAT deficiency
;
Dihydroxyacetonephosphate acyltransferase deficiency
;
GNPAT deficiency
;
Glyceronephosphate O-Acyltransferase Deficiency
;
Glyceronephosphate acyltransferase deficiency
;
Human dihydroxyacetonephosphate acyltransferase deficiency
;
Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency
;
RCDP2