Sost-Related Sclerosing Bone Dysplasia
Disease ID: disease_node_13720
Connections displayed (default: 10).
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| Dbxref | GARD:4771, MIM:239100, ORDO:3152 |
|---|---|
| Subclassof | DOID_0050737, DOID_205 |
| Data Source | DOID |
| Synonyms | van Buchem disease |
| Doid Label | SOST-related sclerosing bone dysplasia |
| Doid Description | A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. |
| Has Phenotype | HP_0001548 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13720 |
| Doid Id | DOID_0080036 |
| Label | Sost-Related Sclerosing Bone Dysplasia |
| Doid Alternate Ids | DOID_0080035 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Hyperostosis(ID:disease_node_8381) (Disease)