Human genes for Eiken syndrome
Eiken syndrome [DOID:0111732]
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.
Synonyms: Eiken syndrome, DOID:0111732, Eiken disease, Eiken disorder, Eiken syndromes ...