Term Name: | Paget's disease of bone 5 |
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Synonyms: | Familial osteoectasia, Hereditary hyperphosphatasia, Hyperostosis corticalis deformans juvenilis, Juvenile Paget disease, Paget disease of bone-5 |
Definition: | A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. |
Ontology: | Human Disease [DOID:0081368] ( DOID:0081368 ) |