|
DOID:0070304 - multiple epiphyseal dysplasia 3
Disease Ontology Definition:A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13.
Synonyms: EDM3, multiple epiphyseal dysplasia 3 with or without myopathy,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
multiple epiphyseal dysplasia due to collagen 9 anomaly (is_a)