Version: 8.0.0
Date: Tue Jan 28 2025
multiple epiphyseal dysplasia 3
DOID:0070304
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

multiple epiphyseal dysplasia 3

Definition
A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13.
Synonyms
  • EDM3
  • multiple epiphyseal dysplasia 3 with or without myopathy
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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