multiple epiphyseal dysplasia 4 Disease Ontology Browser

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Disease Ontology Browser

multiple epiphyseal dysplasia 4 (DOID:0070300)
Alliance: disease page
Synonyms: EDM4; MED4; multiple epiphyseal dysplasia with bilateral patellae; multiple epiphyseal dysplasia with clubfoot; Polyepiphyseal dysplasia type 4; rMED
Alt IDs: OMIM:226900, MESH:C535504, ORDO:93307, UMLS_CUI:C1847593
Definition: A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32.

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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