multiple epiphyseal dysplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results_in irregular ossification centers of the located_in hip or located_in knee. The disease has_symptom fatigue, has_symptom joint pain. (Human Disease Ontology, DOID_12721)
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5 genes associated with the multiple epiphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
COL9A1 collagen, type IX, alpha 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
MATN3 matrilin 3
PHYH phytanoyl-CoA 2-hydroxylase
SLC26A2 solute carrier family 26 (anion exchanger), member 2