{
  "url": "https://dantelabs.com/traits/epiretinal-membrane",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "epiretinal-membrane",
    "id": "HP:0100014",
    "name": "Epiretinal membrane",
    "definition": "An epiretinal membrane is a thin sheet of fibrous tissue on the surface of the retina along the inner limiting membrane. It appears as a greyish semi-translucent avascular membrane over the internal limiting membrane (ILM) on the surface of the retina.",
    "synonyms": [
      "Cellophane maculopathy",
      "Macular pucker",
      "Premacular fibrosis",
      "Surface wrinkling retinopathy"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "macular-thickening",
        "name": "Macular thickening",
        "url": "https://dantelabs.com/traits/macular-thickening"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "hla-a",
        "symbol": "HLA-A",
        "hgnc": "HGNC:4931",
        "name": "major histocompatibility complex, class I, A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-a"
      },
      {
        "slug": "ctnnb1",
        "symbol": "CTNNB1",
        "hgnc": "HGNC:2514",
        "name": "catenin beta 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctnnb1"
      },
      {
        "slug": "fzd4",
        "symbol": "FZD4",
        "hgnc": "HGNC:4042",
        "name": "frizzled class receptor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fzd4"
      },
      {
        "slug": "hgsnat",
        "symbol": "HGSNAT",
        "hgnc": "HGNC:26527",
        "name": "heparan-alpha-glucosaminide N-acetyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hgsnat"
      },
      {
        "slug": "lrp5",
        "symbol": "LRP5",
        "hgnc": "HGNC:6697",
        "name": "LDL receptor related protein 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrp5"
      },
      {
        "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": "nf2",
        "symbol": "NF2",
        "hgnc": "HGNC:7773",
        "name": "NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nf2"
      },
      {
        "slug": "nlrp3",
        "symbol": "NLRP3",
        "hgnc": "HGNC:16400",
        "name": "NLR family pyrin domain containing 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nlrp3"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "tspan12",
        "symbol": "TSPAN12",
        "hgnc": "HGNC:21641",
        "name": "tetraspanin 12",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tspan12"
      },
      {
        "slug": "znf408",
        "symbol": "ZNF408",
        "hgnc": "HGNC:20041",
        "name": "zinc finger protein 408",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf408"
      },
      {
        "slug": "c1qtnf5",
        "symbol": "C1QTNF5",
        "hgnc": "HGNC:14344",
        "name": "C1q and TNF related 5",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c1qtnf5"
      },
      {
        "slug": "trnt1",
        "symbol": "TRNT1",
        "hgnc": "HGNC:17341",
        "name": "tRNA nucleotidyl transferase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trnt1"
      }
    ]
  }
}