Version: 8.0.0
Date: Tue Jan 28 2025
spondyloepiphyseal dysplasia Kimberley type
DOID:0112282
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

spondyloepiphyseal dysplasia Kimberley type

Definition
A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1.
Synonyms
  • SEDK
Cross References
Parent Terms
Child Terms
None
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