MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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5
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OrphanetNr:
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OMIM Id:
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616170
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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:
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Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0011504)
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Bull's eye maculopathy |
rare [HPO:skoehler]
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8 / 7739
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2
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(HPO:0000505)
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Visual impairment |
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297 / 7739
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3
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(HPO:0007754)
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Macular dystrophy |
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26 / 7739
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4
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(HPO:0000543)
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Optic disc pallor |
rare [HPO:skoehler]
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67 / 7739
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5
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(HPO:0007663)
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Reduced visual acuity |
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100 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |