Summary
Metaphyseal Chondrodysplasia, Schmid Type, also known as schmid metaphyseal chondrodysplasia,is related to multicentric castleman disease and holocarboxylase synthetase deficiency,and has symptoms including genu varum, limb undergrowth and micrognathia. An important gene associated with Metaphyseal Chondrodysplasia, Schmid Type is COL10A1 (Collagen Type X Alpha 1 Chain), and among its related pathways are Signaling mediated by p38-alpha and p38-beta and FOXA1 transcription factor network. Affiliated tissues include bone, and related mousephenotype skeleton
All SNPs
Genes | SNP | Risk Alleles |
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