Osteogenesis Imperfecta Type 4
Disease ID: disease_node_15628
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:8696, ICD10CM:Q78.0, MIM:166220 |
|---|---|
| Subclassof | DOID_0050736, DOID_12347 |
| Data Source | DOID |
| Synonyms | OI4, osteogenesis imperfecta type IV, osteogenesis imperfecta with normal sclera |
| Doid Label | osteogenesis imperfecta type 4 |
| Doid Description | An osteogenesis imperfecta that is characterized by bone fragility and normal 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_15628 |
| Doid Id | DOID_0110340 |
| Label | Osteogenesis Imperfecta Type 4 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)