Human disease
oculoauricular syndrome
Mondo defines it as: “Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).”
2 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 |
|---|---|---|---|---|---|
| 1952 | Microtia | OMIA's OMIM numbers | 2 | Target evidence |
58.7
|
| 317 | Ears, crop | OMIA's OMIM numbers | 1 | Target evidence |
55.7
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
| Human gene | Score | Evidence |
|---|---|---|
| HMX1 | 0.76 | 24 |
| HOXA1 | 0.03 | 1 |
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.