Osteogenesis Imperfecta Type 12
Disease ID: disease_node_15620
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| Dbxref | ICD10CM:Q78.0, MIM:613849 |
|---|---|
| Subclassof | DOID_12347, DOID_0050737 |
| Data Source | DOID |
| Synonyms | OI12, osteogenesis imperfecta type XII |
| Doid Label | osteogenesis imperfecta type 12 |
| Doid Description | An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15620 |
| Doid Id | DOID_0110348 |
| Label | Osteogenesis Imperfecta Type 12 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)