Camurati-Engelmann Syndrome
Disease ID: disease_node_2502
Connections displayed (default: 10).
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| Dbxref | GARD:1072, ICD10CM:Q78.3, MESH:D003966, MIM:131300, MIM:606631, NCI:C84610, SNOMEDCT_US_2023_03_01:34643004, UMLS_CUI:C0011989 |
|---|---|
| Subclassof | DOID_4254, DOID_0050177 |
| Data Source | DOID, MESH |
| Synonyms | Diaphyseal dysplasia, Engelman's disease, progressive diaphyseal dysplasia |
| Mesh Id | D003966 |
| Mesh Label | Camurati-Engelmann Syndrome |
| Mesh Subclassof | D010009, D030342 |
| Doid Label | Camurati-Engelmann disease |
| Doid Description | An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_2502 |
| Doid Id | DOID_4997 |
| Disease Has Basis In | SO_0000704 |
| Label | Camurati-Engelmann Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Osteosclerosis(ID:disease_node_5790) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Monogenic Disease(ID:disease_node_13650) (Disease)