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Paget's disease of bone 5
Summary
- Synonym
-
- 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.
- Super Class
- Paget's disease of bone autosomal recessive disease
External Links
- Disease Ontology
- DOID:0081368
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00300 | Tumor necrosis factor receptor superfamily member 11B |
