has material basis in germline mutation in GNPAT rhizomelic chondrodysplasia punctata type 2 https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/9429/rhizomelic-chondrodysplasia-punctata-type-2 https://www.malacards.org/card/rhizomelic_chondrodysplasia_punctata_type_2_2 MEDGEN:341734 Dihydroxyacetonephosphate acyltransferase deficiency OMIM:222765 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene. chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate Glyceronephosphate O-acyltransferase deficiency RCDP2 rhizomelic chondrodysplasia punctata type 2 peroxisomal dihydroxyacetonephosphate acyltransferase deficiency Gnpat deficiency type 2 rhizomelic chondrodysplasia punctata chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency NANDO:1200771 Rcdp2 Dhapat deficiency DOID:0110852 UMLS:C1857242 icd11.foundation:179969811 GARD:0009429 rhizomelic chondrodysplasia punctata, type 2 MONDO:0009112 rhizomelic chondrodysplasia punctata caused by mutation in GNPAT Orphanet:309796 MESH:C537607 GNPAT rhizomelic chondrodysplasia punctata rhizomelic chondrodysplasia punctata glyceronephosphate O-acyltransferase deficiency