FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term multiple epiphyseal dysplasia 5 ID (Ontology) DOID:0070299 (Human Disease)
Definition A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24.
Also Known As "BHMED" ; "bilateral hereditary microepiphyseal dysplasia" ; "EDM5" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_____
osteochondrodysplasia              |
 |__multiple epiphyseal dysplasia__|
                                   multiple epiphyseal dysplasia 5
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Is a autosomal dominant disease
multiple epiphyseal dysplasia
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Synonyms
  • "BHMED" EXACT OMO:0003012
    "bilateral hereditary microepiphyseal dysplasia" EXACT
    "EDM5" EXACT OMO:0003012
    "multiple epiphyseal dysplasia MATN3-related" EXACT
Secondary IDs
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GARD:9794
MESH:C535505
MIM:607078
ORDO:93311
SNOMEDCT_US_2023_03_01:715674008
UMLS_CUI:C1846843