{
  "url": "https://dantelabs.com/traits/iris-transillumination-defect",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "iris-transillumination-defect",
    "id": "HP:0012805",
    "name": "Iris transillumination defect",
    "definition": "Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-iris-pigmentation",
        "name": "Abnormal iris pigmentation",
        "url": "https://dantelabs.com/traits/abnormal-iris-pigmentation"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "bloc1s5",
        "symbol": "BLOC1S5",
        "hgnc": "HGNC:18561",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 5",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bloc1s5"
      },
      {
        "slug": "chrdl1",
        "symbol": "CHRDL1",
        "hgnc": "HGNC:29861",
        "name": "chordin like 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chrdl1"
      },
      {
        "slug": "dct",
        "symbol": "DCT",
        "hgnc": "HGNC:2709",
        "name": "dopachrome tautomerase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dct"
      },
      {
        "slug": "hps5",
        "symbol": "HPS5",
        "hgnc": "HGNC:17022",
        "name": "HPS5 biogenesis of lysosomal organelles complex 2 subunit 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hps5"
      },
      {
        "slug": "lrmda",
        "symbol": "LRMDA",
        "hgnc": "HGNC:23405",
        "name": "leucine rich melanocyte differentiation associated",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrmda"
      },
      {
        "slug": "adamtsl4",
        "symbol": "ADAMTSL4",
        "hgnc": "HGNC:19706",
        "name": "ADAMTS like 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adamtsl4"
      },
      {
        "slug": "col18a1",
        "symbol": "COL18A1",
        "hgnc": "HGNC:2195",
        "name": "collagen type XVIII alpha 1 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col18a1"
      },
      {
        "slug": "cpamd8",
        "symbol": "CPAMD8",
        "hgnc": "HGNC:23228",
        "name": "C3 and PZP like alpha-2-macroglobulin domain containing 8",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cpamd8"
      },
      {
        "slug": "hps6",
        "symbol": "HPS6",
        "hgnc": "HGNC:18817",
        "name": "HPS6 biogenesis of lysosomal organelles complex 2 subunit 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hps6"
      },
      {
        "slug": "mc1r",
        "symbol": "MC1R",
        "hgnc": "HGNC:6929",
        "name": "melanocortin 1 receptor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mc1r"
      },
      {
        "slug": "mitf",
        "symbol": "MITF",
        "hgnc": "HGNC:7105",
        "name": "melanocyte inducing transcription factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mitf"
      },
      {
        "slug": "oca2",
        "symbol": "OCA2",
        "hgnc": "HGNC:8101",
        "name": "OCA2 melanosomal transmembrane protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/oca2"
      },
      {
        "slug": "c1qtnf5",
        "symbol": "C1QTNF5",
        "hgnc": "HGNC:14344",
        "name": "C1q and TNF related 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c1qtnf5"
      },
      {
        "slug": "bloc1s3",
        "symbol": "BLOC1S3",
        "hgnc": "HGNC:20914",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bloc1s3"
      }
    ]
  }
}