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

• GARD:2831
• MIM:239000
• ORDO:2801

Ontology

Human Disease   ( DOID:0081368 )