multiple epiphyseal dysplasia due to collagen 9 anomaly

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Summary

Literature (0)

DOID:0070305 - multiple epiphyseal dysplasia due to collagen 9 anomaly

Disease Ontology Definition:A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3).

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): monogenic disease (is_a), multiple epiphyseal dysplasia (is_a)