has material basis in germline mutation in disease has feature TNFRSF11B Increased bone mineral density bone Paget disease juvenile Paget disease https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease https://www.malacards.org/card/paget_disease_of_bone_5_juvenile_onset https://www.malacards.org/card/pagets_disease_of_bone_5 Paget disease of bone 5, juvenile-onset hereditary hyperphosphatasia familial hyperphosphatasia juvenile Paget disease NORD:1230 hyperostosid corticalis deformans juvenilis icd11.foundation:762002965 Hereditary Hyperphosphatasia Paget disease juvenile type JPD OMIM:239000 NCIT:C131861 UMLS:C0268414 DOID:0081368 juvenile Paget's disease MESH:C537701 Orphanet:2801 juvenile Pagets disease JPG familial osteoectasia MONDO:0009394 hyperostosis corticalis deformans juvenilis Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss. SCTID:9723006 MEDGEN:75678 PDB5 GARD:0002831 obsolete primary bone dysplasia with increased bone density