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Human Disease

Paget's disease of bone 5

Term ID
DOID:0081368
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. https://pubmed.ncbi.nlm.nih.gov/25108083/
References
Ontology
Human Disease   ( DOID:0081368 )
Relationships
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Genes Involved
Zebrafish Models