Eiken skeletal dysplasiabone modeling defect of hands and feet
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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.