Version: 8.0.0
Date: Tue Jan 28 2025
spondyloepiphyseal dysplasia Kondo-Fu type
DOID:0112283
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

spondyloepiphyseal dysplasia Kondo-Fu type

Definition
A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1.
Synonyms
  • SED with elevated blood lysosomal enzymes
  • SEDKF
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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