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Summary Literature (0)
DOID:12721 - multiple epiphyseal dysplasia


Disease Ontology Definition: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.

Synonyms: polyepiphyseal dysplasia

Xenbase Genes : matn3, comp, slc26a2, col9a3, col9a2, slc26a2.2, col9a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0016648 - multiple epiphyseal dysplasia

MIM:
MIM:132400 - EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1
MIM:226900 - EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4
MIM:600204 - EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2
MIM:600969 - EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3
MIM:607078 - EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5
MIM:614135 - EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): osteochondrodysplasia (is_a)