{
  "url": "https://dantelabs.com/traits/ectopia-pupillae",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "ectopia-pupillae",
    "id": "HP:0009918",
    "name": "Displaced pupil",
    "label": "Ectopia pupillae",
    "definition": "A malposition of the pupil owing to a developmental defect of the iris.",
    "synonyms": [
      "Corectopia"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-pupil-morphology",
        "name": "Abnormality of the pupil",
        "url": "https://dantelabs.com/traits/abnormal-pupil-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "adamtsl4",
        "symbol": "ADAMTSL4",
        "hgnc": "HGNC:19706",
        "name": "ADAMTS like 4",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/adamtsl4"
      },
      {
        "slug": "cpamd8",
        "symbol": "CPAMD8",
        "hgnc": "HGNC:23228",
        "name": "C3 and PZP like alpha-2-macroglobulin domain containing 8",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cpamd8"
      },
      {
        "slug": "foxc1",
        "symbol": "FOXC1",
        "hgnc": "HGNC:3800",
        "name": "forkhead box C1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/foxc1"
      },
      {
        "slug": "pax6",
        "symbol": "PAX6",
        "hgnc": "HGNC:8620",
        "name": "paired box 6",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pax6"
      },
      {
        "slug": "pitx2",
        "symbol": "PITX2",
        "hgnc": "HGNC:9005",
        "name": "paired like homeodomain 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pitx2"
      },
      {
        "slug": "wt1",
        "symbol": "WT1",
        "hgnc": "HGNC:12796",
        "name": "WT1 transcription factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wt1"
      },
      {
        "slug": "zeb1",
        "symbol": "ZEB1",
        "hgnc": "HGNC:11642",
        "name": "zinc finger E-box binding homeobox 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/zeb1"
      },
      {
        "slug": "otx2",
        "symbol": "OTX2",
        "hgnc": "HGNC:8522",
        "name": "orthodenticle homeobox 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/otx2"
      },
      {
        "slug": "pcyt1a",
        "symbol": "PCYT1A",
        "hgnc": "HGNC:8754",
        "name": "phosphate cytidylyltransferase 1A, choline",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pcyt1a"
      },
      {
        "slug": "tbx2",
        "symbol": "TBX2",
        "hgnc": "HGNC:11597",
        "name": "T-box transcription factor 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx2"
      },
      {
        "slug": "fbn1",
        "symbol": "FBN1",
        "hgnc": "HGNC:3603",
        "name": "fibrillin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbn1"
      },
      {
        "slug": "ovol2",
        "symbol": "OVOL2",
        "hgnc": "HGNC:15804",
        "name": "ovo like zinc finger 2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ovol2"
      },
      {
        "slug": "rhoa",
        "symbol": "RHOA",
        "hgnc": "HGNC:667",
        "name": "ras homolog family member A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rhoa"
      },
      {
        "slug": "zeb2",
        "symbol": "ZEB2",
        "hgnc": "HGNC:14881",
        "name": "zinc finger E-box binding homeobox 2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/zeb2"
      },
      {
        "slug": "col4a1",
        "symbol": "COL4A1",
        "hgnc": "HGNC:2202",
        "name": "collagen type IV alpha 1 chain",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col4a1"
      },
      {
        "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": "grhl2",
        "symbol": "GRHL2",
        "hgnc": "HGNC:2799",
        "name": "grainyhead like transcription factor 2",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/grhl2"
      },
      {
        "slug": "vsx1",
        "symbol": "VSX1",
        "hgnc": "HGNC:12723",
        "name": "visual system homeobox 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vsx1"
      },
      {
        "slug": "cplx1",
        "symbol": "CPLX1",
        "hgnc": "HGNC:2309",
        "name": "complexin 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cplx1"
      },
      {
        "slug": "ctbp1",
        "symbol": "CTBP1",
        "hgnc": "HGNC:2494",
        "name": "C-terminal binding protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctbp1"
      },
      {
        "slug": "fgfrl1",
        "symbol": "FGFRL1",
        "hgnc": "HGNC:3693",
        "name": "fibroblast growth factor receptor like 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfrl1"
      },
      {
        "slug": "letm1",
        "symbol": "LETM1",
        "hgnc": "HGNC:6556",
        "name": "leucine zipper and EF-hand containing transmembrane protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/letm1"
      },
      {
        "slug": "mab21l2",
        "symbol": "MAB21L2",
        "hgnc": "HGNC:6758",
        "name": "mab-21 like 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mab21l2"
      },
      {
        "slug": "nsd2",
        "symbol": "NSD2",
        "hgnc": "HGNC:12766",
        "name": "nuclear receptor binding SET domain protein 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsd2"
      }
    ]
  }
}