Sorsby's fundus dystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 2 |
| OrphanetNr: | 59181 |
| OMIM Id: |
136900
264420 |
| ICD-10: |
H35.5 |
| UMLs: |
C0339515 |
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
193410003 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Unclassified primitive or secondary maculopathy
-Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0007754) | Macular dystrophy | 26 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|