Osteogenesis Imperfecta
Disease ID: disease_node_5768
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| Dbxref | GARD:8694, MESH:D010013, MIM:166200, NCI:C99003, ORDO:216796, SNOMEDCT_US_2023_03_01:3508009, UMLS_CUI:C0023931 |
|---|---|
| Subclassof | DOID_0050736, DOID_12347 |
| Data Source | DOID, MESH |
| Synonyms | OI1, osteogenesis imperfecta type I |
| Mesh Id | D010013 |
| Mesh Label | Osteogenesis Imperfecta |
| Mesh Subclassof | D010009, D003095, D030342 |
| Doid Label | osteogenesis imperfecta type 1 |
| Doid Description | An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in domitly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_5768 |
| Doid Id | DOID_0110334 |
| Label | Osteogenesis Imperfecta |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)