Term Name:	Paget's disease of bone 5
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 )