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], "truncated": false }, "reports": [ { "slug": "retinitis-pigmentosa", "name": "Retinitis pigmentosa", "diseases": [ { "mondoId": "MONDO:0019200", "name": "Retinitis pigmentosa", "genes": 77, "inheritance": null, "description": "Pärilike võrkkesta düstroofiate rühm, mille puhul toimub varraste ja seejärel kolbide fotoretseptorite progresseeruv kadu, põhjustades öise pimeduse ja järkjärgulise perifeerse nägemise kaotuse.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/et/conditions/retinitis-pigmentosa" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-light-adapted-flicker-electroretinogram", "name": "Abnormal light-adapted flicker electroretinogram", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/abnormal-light-adapted-flicker-electroretinogram" }, { "slug": "bicuspid-aortic-valve", "name": "Aortic valve has two leaflets rather than three", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bicuspid-aortic-valve" }, { "slug": "nyctalopia", "name": "Difficulties with night vision", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/nyctalopia" }, { "slug": "hepatosplenomegaly", "name": "Enlarged liver and spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatosplenomegaly" }, { "slug": "esophageal-varix", "name": "Enlarged vein in esophagus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/esophageal-varix" }, { "slug": "hepatic-fibrosis", "name": "Hepatic fibrosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatic-fibrosis" }, { "slug": "hyperautofluorescent-retinal-lesion", "name": "Hyperautofluorescent retinal lesion", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/hyperautofluorescent-retinal-lesion" }, { "slug": "intrahepatic-bile-duct-dilatation", "name": "Intrahepatic bile duct dilatation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intrahepatic-bile-duct-dilatation" }, { "slug": "constriction-of-peripheral-visual-field", "name": "Limited peripheral vision", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field" }, { "slug": "micronodular-cirrhosis", "name": "Micronodular cirrhosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/micronodular-cirrhosis" }, { "slug": "postaxial-polydactyly", "name": "Postaxial polydactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/postaxial-polydactyly" }, { "slug": "retinal-thinning-on-oct", "name": "Retinal thinning", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/retinal-thinning-on-oct" }, { "slug": "rod-cone-dystrophy", "name": "Rod-cone dystrophy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/rod-cone-dystrophy" } ], "related": [ { "slug": "abca4", "symbol": "ABCA4", "name": "ATP binding cassette subfamily A member 4", "shared": 1, "url": "https://dantelabs.com/et/genes/abca4" }, { "slug": "agbl5", "symbol": "AGBL5", "name": "AGBL carboxypeptidase 5", "shared": 1, "url": "https://dantelabs.com/et/genes/agbl5" }, { "slug": "ahr", "symbol": "AHR", "name": "aryl hydrocarbon receptor", "shared": 1, "url": "https://dantelabs.com/et/genes/ahr" }, { "slug": "arhgef18", "symbol": "ARHGEF18", "name": "Rho/Rac guanine nucleotide exchange factor 18", "shared": 1, "url": "https://dantelabs.com/et/genes/arhgef18" }, { "slug": "arl2bp", "symbol": "ARL2BP", "name": "ARF like GTPase 2 binding protein", "shared": 1, "url": "https://dantelabs.com/et/genes/arl2bp" }, { "slug": "arl3", "symbol": "ARL3", "name": "ARF like GTPase 3", "shared": 1, "url": "https://dantelabs.com/et/genes/arl3" }, { "slug": "arl6", "symbol": "ARL6", "name": "ARF like GTPase 6", "shared": 1, "url": "https://dantelabs.com/et/genes/arl6" }, { "slug": "bbs2", "symbol": "BBS2", "name": "Bardet-Biedl syndrome 2", "shared": 1, "url": "https://dantelabs.com/et/genes/bbs2" }, { "slug": "best1", "symbol": "BEST1", "name": "bestrophin 1", "shared": 1, "url": "https://dantelabs.com/et/genes/best1" }, { "slug": "ca4", "symbol": "CA4", "name": "carbonic anhydrase 4", "shared": 1, "url": "https://dantelabs.com/et/genes/ca4" }, { "slug": "cc2d2a", "symbol": "CC2D2A", "name": "coiled-coil and C2 domain containing 2A", "shared": 1, "url": "https://dantelabs.com/et/genes/cc2d2a" }, { "slug": "cdhr1", "symbol": "CDHR1", "name": "cadherin related family member 1", "shared": 1, "url": "https://dantelabs.com/et/genes/cdhr1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }