rhizomelic chondrodysplasia punctata type 2
Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.
MONDO:0015776
rhizomelic chondrodysplasia punctata
is_a
MONDO:0100273
glyceronephosphate O-acyltransferase deficiency
is_a
Dhapat deficiency
exact
Dihydroxyacetonephosphate acyltransferase deficiency
exact
GNPAT rhizomelic chondrodysplasia punctata
exact
Glyceronephosphate O-acyltransferase deficiency
broad
Gnpat deficiency
broad
RCDP2
exact
Rcdp2
exact
chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency
exact
chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate
related
peroxisomal dihydroxyacetonephosphate acyltransferase deficiency
exact
rhizomelic chondrodysplasia punctata caused by mutation in GNPAT
exact
rhizomelic chondrodysplasia punctata type 2
exact
rhizomelic chondrodysplasia punctata, type 2
exact
type 2 rhizomelic chondrodysplasia punctata
exact