{
  "url": "https://dantelabs.com/traits/chorioretinal-atrophy",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "chorioretinal-atrophy",
    "id": "HP:0000533",
    "name": "Chorioretinal atrophy",
    "definition": "Atrophy (wasting) of the choroid and retinal layers of the fundus.",
    "synonyms": [
      "Chorioretinal degeneration",
      "Chorioretinal thinning"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-chorioretinal-morphology",
        "name": "Abnormal chorioretinal morphology",
        "url": "https://dantelabs.com/traits/abnormal-chorioretinal-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "choriocapillaris-atrophy",
        "name": "Choriocapillaris atrophy",
        "genes": 8,
        "url": "https://dantelabs.com/traits/choriocapillaris-atrophy"
      },
      {
        "slug": "peripapillary-chorioretinal-atrophy",
        "name": "Peripapillary chorioretinal atrophy",
        "genes": 5,
        "url": "https://dantelabs.com/traits/peripapillary-chorioretinal-atrophy"
      },
      {
        "slug": "paravenous-chorioretinal-atrophy",
        "name": "Paravenous chorioretinal atrophy",
        "genes": 1,
        "url": "https://dantelabs.com/traits/paravenous-chorioretinal-atrophy"
      }
    ],
    "genes": [
      {
        "slug": "adamts18",
        "symbol": "ADAMTS18",
        "hgnc": "HGNC:17110",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 18",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adamts18"
      },
      {
        "slug": "chm",
        "symbol": "CHM",
        "hgnc": "HGNC:1940",
        "name": "CHM Rab escort protein",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/chm"
      },
      {
        "slug": "cln3",
        "symbol": "CLN3",
        "hgnc": "HGNC:2074",
        "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cln3"
      },
      {
        "slug": "col18a1",
        "symbol": "COL18A1",
        "hgnc": "HGNC:2195",
        "name": "collagen type XVIII alpha 1 chain",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col18a1"
      },
      {
        "slug": "col9a1",
        "symbol": "COL9A1",
        "hgnc": "HGNC:2217",
        "name": "collagen type IX alpha 1 chain",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col9a1"
      },
      {
        "slug": "gucy2d",
        "symbol": "GUCY2D",
        "hgnc": "HGNC:4689",
        "name": "guanylate cyclase 2D, retinal",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/gucy2d"
      },
      {
        "slug": "nhej1",
        "symbol": "NHEJ1",
        "hgnc": "HGNC:25737",
        "name": "non-homologous end joining factor 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nhej1"
      },
      {
        "slug": "oat",
        "symbol": "OAT",
        "hgnc": "HGNC:8091",
        "name": "ornithine aminotransferase",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/oat"
      },
      {
        "slug": "pnpla6",
        "symbol": "PNPLA6",
        "hgnc": "HGNC:16268",
        "name": "patatin like domain 6, lysophospholipase",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/pnpla6"
      },
      {
        "slug": "pou3f4",
        "symbol": "POU3F4",
        "hgnc": "HGNC:9217",
        "name": "POU class 3 homeobox 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pou3f4"
      },
      {
        "slug": "rpgrip1",
        "symbol": "RPGRIP1",
        "hgnc": "HGNC:13436",
        "name": "RPGR interacting protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpgrip1"
      },
      {
        "slug": "c1qtnf5",
        "symbol": "C1QTNF5",
        "hgnc": "HGNC:14344",
        "name": "C1q and TNF related 5",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/c1qtnf5"
      },
      {
        "slug": "crb1",
        "symbol": "CRB1",
        "hgnc": "HGNC:2343",
        "name": "crumbs cell polarity complex component 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crb1"
      },
      {
        "slug": "cyp4v2",
        "symbol": "CYP4V2",
        "hgnc": "HGNC:23198",
        "name": "cytochrome P450 family 4 subfamily V member 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cyp4v2"
      },
      {
        "slug": "hmx1",
        "symbol": "HMX1",
        "hgnc": "HGNC:5017",
        "name": "H6 family homeobox 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hmx1"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "hgnc": "HGNC:6407",
        "name": "KRas proto-oncogene, GTPase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kras"
      },
      {
        "slug": "vcan",
        "symbol": "VCAN",
        "hgnc": "HGNC:2464",
        "name": "versican",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/vcan"
      },
      {
        "slug": "znf408",
        "symbol": "ZNF408",
        "hgnc": "HGNC:20041",
        "name": "zinc finger protein 408",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/znf408"
      },
      {
        "slug": "alms1",
        "symbol": "ALMS1",
        "hgnc": "HGNC:428",
        "name": "ALMS1 centrosome and basal body associated protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alms1"
      },
      {
        "slug": "cabp4",
        "symbol": "CABP4",
        "hgnc": "HGNC:1386",
        "name": "calcium binding protein 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cabp4"
      },
      {
        "slug": "clcn2",
        "symbol": "CLCN2",
        "hgnc": "HGNC:2020",
        "name": "chloride voltage-gated channel 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clcn2"
      },
      {
        "slug": "ctnnb1",
        "symbol": "CTNNB1",
        "hgnc": "HGNC:2514",
        "name": "catenin beta 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctnnb1"
      },
      {
        "slug": "dpp6",
        "symbol": "DPP6",
        "hgnc": "HGNC:3010",
        "name": "dipeptidyl peptidase like 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dpp6"
      },
      {
        "slug": "fzd4",
        "symbol": "FZD4",
        "hgnc": "HGNC:4042",
        "name": "frizzled class receptor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fzd4"
      },
      {
        "slug": "guca1a",
        "symbol": "GUCA1A",
        "hgnc": "HGNC:4678",
        "name": "guanylate cyclase activator 1A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/guca1a"
      },
      {
        "slug": "hadha",
        "symbol": "HADHA",
        "hgnc": "HGNC:4801",
        "name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hadha"
      },
      {
        "slug": "kcnj13",
        "symbol": "KCNJ13",
        "hgnc": "HGNC:6259",
        "name": "potassium inwardly rectifying channel subfamily J member 13",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnj13"
      },
      {
        "slug": "lca5",
        "symbol": "LCA5",
        "hgnc": "HGNC:31923",
        "name": "lebercilin LCA5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lca5"
      },
      {
        "slug": "lim2",
        "symbol": "LIM2",
        "hgnc": "HGNC:6610",
        "name": "lens intrinsic membrane protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lim2"
      },
      {
        "slug": "lrat",
        "symbol": "LRAT",
        "hgnc": "HGNC:6685",
        "name": "lecithin retinol acyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrat"
      },
      {
        "slug": "lrp5",
        "symbol": "LRP5",
        "hgnc": "HGNC:6697",
        "name": "LDL receptor related protein 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrp5"
      },
      {
        "slug": "nde1",
        "symbol": "NDE1",
        "hgnc": "HGNC:17619",
        "name": "nudE neurodevelopment protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nde1"
      },
      {
        "slug": "ndp",
        "symbol": "NDP",
        "hgnc": "HGNC:7678",
        "name": "norrin cystine knot growth factor NDP",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndp"
      },
      {
        "slug": "otx2",
        "symbol": "OTX2",
        "hgnc": "HGNC:8522",
        "name": "orthodenticle homeobox 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/otx2"
      },
      {
        "slug": "prph2",
        "symbol": "PRPH2",
        "hgnc": "HGNC:9942",
        "name": "peripherin 2",
        "frequency": "occasional",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/prph2"
      },
      {
        "slug": "rnu7-1",
        "symbol": "RNU7-1",
        "hgnc": "HGNC:34033",
        "name": "RNA, U7 small nuclear 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu7-1"
      },
      {
        "slug": "rom1",
        "symbol": "ROM1",
        "hgnc": "HGNC:10254",
        "name": "retinal outer segment membrane protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rom1"
      },
      {
        "slug": "rpe65",
        "symbol": "RPE65",
        "hgnc": "HGNC:10294",
        "name": "retinoid isomerohydrolase RPE65",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rpe65"
      },
      {
        "slug": "spata7",
        "symbol": "SPATA7",
        "hgnc": "HGNC:20423",
        "name": "spermatogenesis associated 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spata7"
      },
      {
        "slug": "timp3",
        "symbol": "TIMP3",
        "hgnc": "HGNC:11822",
        "name": "TIMP metallopeptidase inhibitor 3",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/timp3"
      },
      {
        "slug": "tspan12",
        "symbol": "TSPAN12",
        "hgnc": "HGNC:21641",
        "name": "tetraspanin 12",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tspan12"
      },
      {
        "slug": "col8a2",
        "symbol": "COL8A2",
        "hgnc": "HGNC:2216",
        "name": "collagen type VIII alpha 2 chain",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col8a2"
      },
      {
        "slug": "eys",
        "symbol": "EYS",
        "hgnc": "HGNC:21555",
        "name": "EGF-like photoreceptor maintenance factor",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eys"
      },
      {
        "slug": "grhl2",
        "symbol": "GRHL2",
        "hgnc": "HGNC:2799",
        "name": "grainyhead like transcription factor 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grhl2"
      },
      {
        "slug": "ovol2",
        "symbol": "OVOL2",
        "hgnc": "HGNC:15804",
        "name": "ovo like zinc finger 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ovol2"
      },
      {
        "slug": "slc25a15",
        "symbol": "SLC25A15",
        "hgnc": "HGNC:10985",
        "name": "solute carrier family 25 member 15",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/slc25a15"
      },
      {
        "slug": "vsx1",
        "symbol": "VSX1",
        "hgnc": "HGNC:12723",
        "name": "visual system homeobox 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vsx1"
      },
      {
        "slug": "zeb1",
        "symbol": "ZEB1",
        "hgnc": "HGNC:11642",
        "name": "zinc finger E-box binding homeobox 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zeb1"
      },
      {
        "slug": "crx",
        "symbol": "CRX",
        "hgnc": "HGNC:2383",
        "name": "cone-rod homeobox",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crx"
      },
      {
        "slug": "fscn2",
        "symbol": "FSCN2",
        "hgnc": "HGNC:3960",
        "name": "fascin actin-bundling protein 2, retinal",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fscn2"
      },
      {
        "slug": "jag1",
        "symbol": "JAG1",
        "hgnc": "HGNC:6188",
        "name": "jagged canonical Notch ligand 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jag1"
      },
      {
        "slug": "nrl",
        "symbol": "NRL",
        "hgnc": "HGNC:8002",
        "name": "neural retina leucine zipper",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nrl"
      },
      {
        "slug": "pax2",
        "symbol": "PAX2",
        "hgnc": "HGNC:8616",
        "name": "paired box 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pax2"
      },
      {
        "slug": "rp2",
        "symbol": "RP2",
        "hgnc": "HGNC:10274",
        "name": "RP2 activator of ARL3 GTPase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rp2"
      },
      {
        "slug": "sag",
        "symbol": "SAG",
        "hgnc": "HGNC:10521",
        "name": "S-antigen visual arrestin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sag"
      }
    ]
  }
}