"MESH:C564010"^^ . "UMLS_CUI:C1838779"^^ . . "SNOMEDCT_US_2021_09_01:720863002"^^ . _:vb50945368 . "disease_ontology"^^ . "Eiken skeletal dysplasia"^^ . . "OMIM:600002"^^ . . _:vb50945368 . "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 PTHR1 on chromosome 3p21.31."^^ . _:vb50945368 . _:vb50945368 . "DOID:0111732"^^ . _:vb50945368 . "ORDO:79106"^^ . "Eiken syndrome"^^ . . "bone modeling defect of hands and feet"^^ .