FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Paget's disease of bone 5 ID (Ontology) DOID:0081368 (Human Disease)
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.
Also Known As "Familial osteoectasia" ; "Hereditary hyperphosphatasia" ; "Hyperostosis corticalis deformans juvenilis" (for all, see Synonyms field below)
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autosomal genetic disease
 |__autosomal recessive disease__
hyperostosis                     |
 |__Paget's disease of bone______|
                                 Paget's disease of bone 5
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Is a autosomal recessive disease
Paget's disease of bone
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Synonyms
  • "Familial osteoectasia" EXACT
    "Hereditary hyperphosphatasia" EXACT
    "Hyperostosis corticalis deformans juvenilis" EXACT
    "Juvenile Paget disease" EXACT
    "Paget disease of bone-5" EXACT
Secondary IDs
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GARD:2831
MIM:239000
ORDO:2801