Eiken syndrome

Term ID

DOID:0111732

Synonyms

• bone modeling defect of hands and feet
• Eiken skeletal dysplasia

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. https://www.ncbi.nlm.nih.gov/pubmed/6734674

References

• MESH:C564010
• MIM:600002
• ORDO:79106
• SNOMEDCT_US_2023_03_01:720863002
• UMLS_CUI:C1838779

Ontology

Human Disease   ( DOID:0111732 )