Human disease
osteogenesis imperfecta type 2
Mondo defines it as: “Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.”
3 disease groups in OMIA reach this disease, through OMIA's own Mondo link or its OMIM numbers. The page shows the chain. It does not say whether an animal is a model of this disease.
Animal diseases
By natural-model score for this disease, highest first. The score says how complete and how well supported each chain is, by stated rules. How the score works.
| OMIA group | Name | Found by | Species | The chain reached | Score |
|---|---|---|---|---|---|
| 2112 | Osteogenesis imperfecta, COL1A2-related | OMIA's OMIM numbers | 2 | Drug |
64.1
|
| 2127 | Osteogenesis imperfecta, type II, COL1A1-related | OMIA's OMIM numbers | 2 | Drug |
64.1
|
| 754 | Osteogenesis imperfecta, generic | OMIA's OMIM numbers | 4 | Human disease |
15.0
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
| Human gene | Score | Evidence |
|---|---|---|
| COL1A2 | 0.85 | 172 |
| COL1A1 | 0.84 | 277 |
Drugs tested for this disease
Each ChEMBL drug that has been tested for this disease, and the human genes above it acts on, if any. Open Targets gives some drugs, such as most enzyme replacement therapies, no target gene.
No drug has been tested for this disease.