RETINITIS PIGMENTOSA 69
General Information (adopted from Orphanet):
Synonyms, Signs: |
|
Number of Symptoms | 5 |
OrphanetNr: | |
OMIM Id: |
615780
|
ICD-10: |
|
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: | No data available. |
Symptom Information:
|
(HPO:0001133) | Constriction of peripheral visual field | 33 / 7739 | ||||
|
(HPO:0000550) | Undetectable electroretinogram | 25 / 7739 | ||||
|
(HPO:0000510) | Rod-cone dystrophy | 266 / 7739 | ||||
|
(HPO:0000580) | Pigmentary retinopathy | 49 / 7739 | ||||
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|