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ENRhizomelic Chondrodysplasia Punctata, Type 3 (RCDP3)
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Rhizomelic Chondrodysplasia Punctata Type 3
Alkyldihydroxyacetonephosphate Synthase Deficiency
Alkylglycerone-Phosphate Synthase Deficiency
Agps Deficiency
Rcdp3
Chondrodysplasia Punctata, Rhizomelic, Type 3
Rhizomelic Chondrodysplasia Punctata 3
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Rhizomelic Chondrodysplasia Punctata, Type 3, also known as rhizomelic chondrodysplasia punctata type 3, is related to rhizomelic chondrodysplasia punctata and chondrodysplasia punctata syndrome. An important gene associated with Rhizomelic Chondrodysplasia Punctata, Type 3 is AGPS (Alkylglycerone Phosphate Synthase), and among its related pathways/superpathways are Peroxisomal lipid metabolism and Triacylglyceride synthesis. Affiliated tissues include bone and eye, and related phenotypes are failure to thrive and epiphyseal stippling
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