Version: 8.0.0
Date: Tue Jan 28 2025
Eiken syndrome
DOID:0111732
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Eiken syndrome

Definition
A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31.
Synonyms
  • bone modeling defect of hands and feet
  • Eiken skeletal dysplasia
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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      Associated Models

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