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ENRhizomelic Chondrodysplasia Punctata, Type 2 (RCDP2)
Alias:
Rhizomelic Chondrodysplasia Punctata Type 2
Dihydroxyacetonephosphate Acyltransferase Deficiency
Chondrodysplasia Punctata, Rhizomelic, Due to Dihydroxyacetonephosphate Acyltransferase Deficiency
Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency
Glyceronephosphate O-Acyltransferase Deficiency
Dhapat Deficiency
Gnpat Deficiency
Rcdp2
Chondrodysplasia Punctata, Rhizomelic, Type 2
Rhizomelic Chondrodysplasia Punctata 2
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Rhizomelic Chondrodysplasia Punctata, Type 2, also known as rhizomelic chondrodysplasia punctata type 2, is related to chondrodysplasia punctata syndrome and cataract. An important gene associated with Rhizomelic Chondrodysplasia Punctata, Type 2 is GNPAT (Glyceronephosphate O-Acyltransferase), and among its related pathways/superpathways are Metabolism and Peroxisomal lipid metabolism. Affiliated tissues include bone and eye, and related phenotypes are inguinal hernia and epiphyseal stippling
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