| Metadata | |
|---|---|
| ID | DOID:0081368 |
| Name | Paget's 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Familial osteoectasia [EXACT] Hereditary hyperphosphatasia [EXACT] Hyperostosis corticalis deformans juvenilis [EXACT] Juvenile Paget disease [EXACT] Paget disease of bone-5 [EXACT] |
| Parent Relationships |