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Rhizomelic chondrodysplasia punctata, type 2 MeSH Supplementary Concept Data 2022


MeSH Supplementary
Rhizomelic chondrodysplasia punctata, type 2
Unique ID
C537607
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537607
Entry Term(s)
Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
Chondrodysplasia punctata, rhizomelic, due to DHAPAT deficiency
DHAPAT deficiency
Dihydroxyacetonephosphate acyltransferase deficiency
GNPAT deficiency
Glyceronephosphate O-Acyltransferase Deficiency
Glyceronephosphate acyltransferase deficiency
Human dihydroxyacetonephosphate acyltransferase deficiency
Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency
Type 2 rhizomelic chondrodysplasia punctata
Registry Number
0
Heading Mapped to
*Chondrodysplasia Punctata, Rhizomelic
Frequency
7
Date of Entry
2010/08/25
Revision Date
2012/11/05
Rhizomelic chondrodysplasia punctata, type 2 Preferred
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