OMOP Concept 733829

Rhizomelic chondrodysplasia punctata, type 2

Non-standardConditionMeSHC537607Suppl Concept
Maps from
0
Descendants
0
Valid from
7 Nov 2022
Valid to
31 Dec 2099
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Synonyms

Alternative names recorded for Rhizomelic chondrodysplasia punctata, type 2 across source vocabularies.

  • Chondrodysplasia punctata, rhizomelic, due to DHAPAT deficiency
  • Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
  • DHAPAT deficiency
  • Dihydroxyacetonephosphate acyltransferase deficiency
  • Glyceronephosphate acyltransferase deficiency
  • Glyceronephosphate O-Acyltransferase Deficiency
  • GNPAT deficiency
  • Human dihydroxyacetonephosphate acyltransferase deficiency
  • Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency
  • Type 2 rhizomelic chondrodysplasia punctata

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