Paget'S Disease Of Bone 5
Disease ID: disease_node_13716
Connections displayed (default: 10).
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| Dbxref | GARD:2831, MIM:239000, ORDO:2801 |
|---|---|
| Subclassof | DOID_0050737, DOID_5408 |
| Data Source | DOID |
| Synonyms | Familial osteoectasia, Hereditary hyperphosphatasia, Hyperostosis corticalis deformans juvenilis, Juvenile Paget disease, Paget disease of bone-5 |
| Doid Label | Paget's disease of bone 5 |
| Doid Description | 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. |
| Existence Starts During | HP_0003621 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13716 |
| Doid Id | DOID_0081368 |
| Label | Paget'S Disease Of Bone 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Osteitis Deformans(ID:disease_node_5753) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)