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multiple epiphyseal dysplasia 1
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease multiple epiphyseal dysplasia
External Links
- Disease Ontology
- DOID:0070303
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
