Osteogenesis Imperfecta Type 3
Disease ID: disease_node_15629
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| Dbxref | GARD:8695, ICD10CM:Q78.0, MIM:259420 |
|---|---|
| Subclassof | DOID_0050736, DOID_12347 |
| Data Source | DOID |
| Synonyms | OI3, osteogenesis imperfecta type III, progressively deforming osteogenesis imperfecta with normal sclera |
| Doid Label | osteogenesis imperfecta type 3 |
| Doid Description | An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in 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_15629 |
| Doid Id | DOID_0110339 |
| Label | Osteogenesis Imperfecta Type 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)