Rhizomelic chondrodysplasia punctata type 2
MONDO:0009112Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.
Also known as: Dhapat deficiency, Dihydroxyacetonephosphate acyltransferase deficiency, GNPAT rhizomelic chondrodysplasia punctata, Glyceronephosphate O-acyltransferase deficiency, Gnpat deficiency, RCDP2, Rcdp2, chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency
2 clinical trials for this condition and its sub-types.
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