rhizomelic chondrodysplasia punctata type 2 https://github.com/monarch-initiative/mondo/issues/10382 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 OMIM:222765 2026-09-01 type 2 rhizomelic chondrodysplasia punctata peroxisomal dihydroxyacetonephosphate acyltransferase deficiency chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency NANDO:1200771 Gnpat deficiency Dhapat deficiency UMLS:C1857242 rhizomelic chondrodysplasia punctata, type 2 GNPAT rhizomelic chondrodysplasia punctata Dihydroxyacetonephosphate acyltransferase deficiency chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene. RCDP2 rhizomelic chondrodysplasia punctata type 2 Glyceronephosphate O-acyltransferase deficiency Rcdp2 DOID:0110852 icd11.foundation:179969811 GARD:0009429 MONDO:0009112 rhizomelic chondrodysplasia punctata caused by mutation in GNPAT MESH:C537607 Orphanet:309796 rhizomelic chondrodysplasia punctata glyceronephosphate O-acyltransferase deficiency obsolete_rhizomelic chondrodysplasia punctata type 2