FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Eiken syndrome ID (Ontology) DOID:0111732 (Human Disease)
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.
Also Known As "bone modeling defect of hands and feet" ; "Eiken skeletal dysplasia"
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 Genes
 Eiken syndrome       1
 for disease ribbon | Eiken syndrome       1
 model of | Eiken syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
bone disease                     |
 |__bone development disease_____|
                                 Eiken syndrome  1 rec.
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Is a autosomal recessive disease
bone development disease
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Synonyms
  • "bone modeling defect of hands and feet" EXACT
    "Eiken skeletal dysplasia" EXACT
Secondary IDs
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MESH:C564010
MIM:600002
ORDO:79106
SNOMEDCT_US_2023_03_01:720863002
UMLS_CUI:C1838779