Version: 8.0.0
Date: Tue Jan 28 2025
omodysplasia 1
DOID:0080844
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

omodysplasia 1

Definition
An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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