Version: 8.0.0
Date: Tue Jan 28 2025
multiple epiphyseal dysplasia 5
DOID:0070299
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

multiple epiphyseal dysplasia 5

Definition
A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24.
Synonyms
  • BHMED
  • bilateral hereditary microepiphyseal dysplasia
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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