Version: 8.0.0
Date: Tue Jan 28 2025
multiple epiphyseal dysplasia 6
DOID:0070301
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

multiple epiphyseal dysplasia 6

Definition
A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13.
Synonyms
  • EDM6
Cross References
Parent Terms
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None
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