Version: 8.0.0
Date: Tue Jan 28 2025
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
DOID:0112304
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

spondylometaphyseal dysplasia Megarbane-Dagher-Melike type

Definition
A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3.
Synonyms
  • Megarbane-Dagher-Melike type chondrodysplasia
  • SMDMDM
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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