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DO Term : Paget's disease of bone 5 [DOID:0081368] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ORDO:2801,
  • Familial osteoectasia,
  • GARD:2831,
  • OMIM:239000,
  • Juvenile Paget disease,
  • Hyperostosis corticalis deformans juvenilis,
  • Paget disease of bone-5,
  • 239000,
  • Hereditary hyperphosphatasia
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Ontology

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Ontology Term --> Direct parents