multiple epiphyseal dysplasia 1 Disease Ontology Browser

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Disease Ontology Browser

multiple epiphyseal dysplasia 1 (DOID:0070303)
Alliance: disease page
Synonyms: EDM1; MED1; multiple epiphyseal dysplasia COMP-related; polyepiphyseal dysplasia type 1
Alt IDs: OMIM:132400, MESH:C535501, ORDO:93308, UMLS_CUI:C1838280
Definition: A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.

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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