a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification; it has been described in 6 members of a unique consanguineous family
developmental defect during embryogenesis
primary bone dysplasia with defective bone mineralization
multiple epiphyseal dysplasia and pseudoachondroplasia
Monarch Disease Ontology release 2018-06-29
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes