Term Name: Eiken syndrome
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 )

Relationships
is a type of: autosomal recessive disease bone development disease