multiple epiphyseal dysplasia 3 Disease Ontology Browser

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Disease Ontology Browser

multiple epiphyseal dysplasia 3 (DOID:0070304)
Alliance: disease page
Synonyms: EDM3; multiple epiphyseal dysplasia 3 with or without myopathy
Alt IDs: OMIM:600969
Definition: A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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