Term Name: | multiple epiphyseal dysplasia 1 |
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Synonyms: | EDM1, MED1, multiple epiphyseal dysplasia COMP-related, polyepiphyseal dysplasia type 1 |
Definition: | A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. |
Ontology: | Human Disease [DOID:0070303] ( DOID:0070303 ) |