Ocular albinism
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 0 |
| OrphanetNr: | 284804 |
| OMIM Id: |
|
| ICD-10: |
E70.3 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
|
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of melanin metabolism
-Rare genetic disease Oculocutaneous or ocular albinism -Rare eye disease -Rare genetic disease |
Comment:
| This term does not characterize a disease but a group of diseases. |
Symptom Information:
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|