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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
osteitis deformans +     
juvenile Paget disease 
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.

Synonyms
Exact Synonyms: JPG ;   familial hyperphosphatasia ;   hereditary hyperphosphatasia ;   hyperostosis corticalis deformans juvenilis ;   juvenile Paget's disease
Related Synonyms: JPD ;   PDB5 ;   Paget disease juvenile type ;   Paget disease of bone 5, juvenile-onset ;   hyperostosid corticalis deformans juvenilis ;   hyperphosphatasemia, chronic congenital idiopathic ;   hyperphosphatasia, familial idiopathic ;   juvenile Pagets disease ;   osteoectasia, familial
Alternate IDs: MONDO:0009394
Xrefs: DOID:0081368 ;   GARD:2831 ;   MEDGEN:75678 ;   MESH:C537701 ;   MIM:239000 ;   NCI:C131861 ;   NORD:1230 ;   ORDO:2801 ;   SCTID:9723006 ;   UMLS:C0268414
see_also: https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease" xsd:anyURI {source="GARD:0002831
Definition Sources: Orphanet:2801

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