RETINITIS PIGMENTOSA 23
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 4 |
| OrphanetNr: | |
| OMIM Id: |
300424
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000510) | Rod-cone dystrophy | 266 / 7739 | ||||
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(HPO:0007787) | Posterior subcapsular cataract | rare [HPO:skoehler] | 20 / 7739 | |||
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(HPO:0000551) | Abnormality of color vision | 20 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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