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Genetic and Rare Diseases Information Center (GARD)

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Rhizomelic chondrodysplasia punctata type 2

Other Names for this Disease
  • Chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate
  • DHAPAT deficiency
  • Dihydroxyacetonephosphate acyltransferase deficiency
  • Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency
  • RCDP2
More Names
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