Term Name: | multiple epiphyseal dysplasia 4 |
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Synonyms: | EDM4, MED4, multiple epiphyseal dysplasia with bilateral patellae, multiple epiphyseal dysplasia with clubfoot, Polyepiphyseal dysplasia type 4, rMED |
Definition: | A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. |
Ontology: | Human Disease [DOID:0070300] ( DOID:0070300 ) |