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Rhizomelic chondrodysplasia punctata type 2
rareAny rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.
- Identifiers
- MONDO:0009112 OMIM:222765Orphanet:309796
- Also known as
- chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate · chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency · Dhapat deficiency · Dihydroxyacetonephosphate acyltransferase deficiency · GNPAT rhizomelic chondrodysplasia punctata
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