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multiple epiphyseal dysplasia 5
Summary
- Synonym
-
- BHMED
- EDM5
- bilateral hereditary microepiphyseal dysplasia
- multiple epiphyseal dysplasia MATN3-related
- Definition
- A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24.
- Super Class
- autosomal dominant disease multiple epiphyseal dysplasia
External Links
- Disease Ontology
- DOID:0070299
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
