metaphyseal chondrodysplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. (Human Phenotype Ontology, HP_0005871)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005871
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Genes

3 genes associated with the metaphyseal chondrodysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
COL10A1 collagen, type X, alpha 1
PTH1R parathyroid hormone 1 receptor
SBDS Shwachman-Bodian-Diamond syndrome