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ENRhizomelic Chondrodysplasia Punctata (RCP)
Alias:
Chondrodysplasia Punctata, Rhizomelic
Rcdp
Chondrodysplasia Punctata, Rhizomelic Form
Chondrodysplasia Punctata Rhizomelic
Rcp
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Rhizomelic Chondrodysplasia Punctata, also known as chondrodysplasia punctata, rhizomelic, is related to rhizomelic chondrodysplasia punctata, type 3 and rhizomelic chondrodysplasia punctata, type 2. An important gene associated with Rhizomelic Chondrodysplasia Punctata is GNPAT (Glyceronephosphate O-Acyltransferase), and among its related pathways/superpathways are Peroxisomal lipid metabolism and Protein ubiquitination. The drugs Glycerin and Coconut have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are scoliosis and cataract
Related ID：
MESH：D018902
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