Rhizomelic chondrodysplasia punctata type 2

Definition

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.

Also known as chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency, Dhapat deficiency, Dihydroxyacetonephosphate acyltransferase deficiency, GNPAT rhizomelic chondrodysplasia punctata, peroxisomal dihydroxyacetonephosphate acyltransferase deficiency, RCDP2, rhizomelic chondrodysplasia punctata caused by mutation in GNPAT, rhizomelic chondrodysplasia punctata type 2, rhizomelic chondrodysplasia punctata, type 2, type 2 rhizomelic chondrodysplasia punctata — per MONDO

Also identified as

• DOID 0110852 per MONDO
• MESH C537607 per MONDO
• OMIM 222765 per MONDO
• Orphanet 309796 per MONDO
• UMLS C1857242 per MONDO