Term Name: | Eiken syndrome |
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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. |
Ontology: | Human Disease [DOID:0111732] ( DOID:0111732 ) |