multiple epiphyseal dysplasia 2 Disease Ontology Browser

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Disease Ontology Browser

multiple epiphyseal dysplasia 2 (DOID:0070298)
Alliance: disease page
Synonyms: EDM2
Alt IDs: OMIM:600204
Definition: A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34.

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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