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. [ url:https://pubmed.ncbi.nlm.nih.gov/25108083/ ]

Synonyms: Hereditary hyperphosphatasia Paget disease of bone-5 Juvenile Paget disease Hyperostosis corticalis deformans juvenilis Familial osteoectasia

This is just here as a test because I lose it

Term information

database cross reference
  • ORDO:2801
  • GARD:2831
  • MIM:239000
Subsets

DO_rare_slim

has obo namespace

disease_ontology

id

DOID:0081368