{
  "url": "https://dantelabs.com/traits/optic-disc-coloboma",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "optic-disc-coloboma",
    "id": "HP:0000588",
    "name": "Optic disc coloboma",
    "definition": "A cleft of the optic nerve that extends inferiorly.",
    "synonyms": [
      "Coloboma of optic nerve",
      "Optic nerve coloboma"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-optic-disc-morphology",
        "name": "Abnormal optic disc morphology",
        "url": "https://dantelabs.com/traits/abnormal-optic-disc-morphology"
      },
      {
        "slug": "coloboma",
        "name": "Notched pupil",
        "url": "https://dantelabs.com/traits/coloboma"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "ddx11",
        "symbol": "DDX11",
        "hgnc": "HGNC:2736",
        "name": "DEAD/H-box helicase 11",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddx11"
      },
      {
        "slug": "hhat",
        "symbol": "HHAT",
        "hgnc": "HGNC:18270",
        "name": "hedgehog acyltransferase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hhat"
      },
      {
        "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": "pax2",
        "symbol": "PAX2",
        "hgnc": "HGNC:8616",
        "name": "paired box 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pax2"
      },
      {
        "slug": "sall2",
        "symbol": "SALL2",
        "hgnc": "HGNC:10526",
        "name": "spalt like transcription factor 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sall2"
      },
      {
        "slug": "uggt1",
        "symbol": "UGGT1",
        "hgnc": "HGNC:15663",
        "name": "UDP-glucose glycoprotein glucosyltransferase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/uggt1"
      },
      {
        "slug": "bcor",
        "symbol": "BCOR",
        "hgnc": "HGNC:20893",
        "name": "BCL6 corepressor",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/bcor"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "hgnc": "HGNC:29253",
        "name": "coiled-coil and C2 domain containing 2A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cc2d2a"
      },
      {
        "slug": "ddx59",
        "symbol": "DDX59",
        "hgnc": "HGNC:25360",
        "name": "DEAD-box helicase 59",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddx59"
      },
      {
        "slug": "foxe3",
        "symbol": "FOXE3",
        "hgnc": "HGNC:3808",
        "name": "forkhead box E3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxe3"
      },
      {
        "slug": "fzd5",
        "symbol": "FZD5",
        "hgnc": "HGNC:4043",
        "name": "frizzled class receptor 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fzd5"
      },
      {
        "slug": "igbp1",
        "symbol": "IGBP1",
        "hgnc": "HGNC:5461",
        "name": "immunoglobulin binding protein 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/igbp1"
      },
      {
        "slug": "inpp5e",
        "symbol": "INPP5E",
        "hgnc": "HGNC:21474",
        "name": "inositol polyphosphate-5-phosphatase E",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/inpp5e"
      },
      {
        "slug": "naa10",
        "symbol": "NAA10",
        "hgnc": "HGNC:18704",
        "name": "N-alpha-acetyltransferase 10, NatA catalytic subunit",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/naa10"
      },
      {
        "slug": "nr6a1",
        "symbol": "NR6A1",
        "hgnc": "HGNC:7985",
        "name": "nuclear receptor subfamily 6 group A member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nr6a1"
      },
      {
        "slug": "rpgrip1l",
        "symbol": "RPGRIP1L",
        "hgnc": "HGNC:29168",
        "name": "RPGRIP1 like",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpgrip1l"
      },
      {
        "slug": "sall4",
        "symbol": "SALL4",
        "hgnc": "HGNC:15924",
        "name": "spalt like transcription factor 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sall4"
      },
      {
        "slug": "tmem67",
        "symbol": "TMEM67",
        "hgnc": "HGNC:28396",
        "name": "transmembrane protein 67",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem67"
      },
      {
        "slug": "actb",
        "symbol": "ACTB",
        "hgnc": "HGNC:132",
        "name": "actin beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/actb"
      },
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "hgnc": "HGNC:144",
        "name": "actin gamma 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/actg1"
      },
      {
        "slug": "kmt2d",
        "symbol": "KMT2D",
        "hgnc": "HGNC:7133",
        "name": "lysine methyltransferase 2D",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kmt2d"
      },
      {
        "slug": "mau2",
        "symbol": "MAU2",
        "hgnc": "HGNC:29140",
        "name": "MAU2 sister chromatid cohesion factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mau2"
      },
      {
        "slug": "pax6",
        "symbol": "PAX6",
        "hgnc": "HGNC:8620",
        "name": "paired box 6",
        "frequency": "occasional",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/pax6"
      },
      {
        "slug": "pcyt1a",
        "symbol": "PCYT1A",
        "hgnc": "HGNC:8754",
        "name": "phosphate cytidylyltransferase 1A, choline",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pcyt1a"
      },
      {
        "slug": "prmt7",
        "symbol": "PRMT7",
        "hgnc": "HGNC:25557",
        "name": "protein arginine methyltransferase 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prmt7"
      },
      {
        "slug": "smo",
        "symbol": "SMO",
        "hgnc": "HGNC:11119",
        "name": "smoothened, frizzled class receptor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smo"
      },
      {
        "slug": "spint2",
        "symbol": "SPINT2",
        "hgnc": "HGNC:11247",
        "name": "serine peptidase inhibitor, Kunitz type 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spint2"
      },
      {
        "slug": "zrsr2",
        "symbol": "ZRSR2",
        "hgnc": "HGNC:23019",
        "name": "zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zrsr2"
      },
      {
        "slug": "epcam",
        "symbol": "EPCAM",
        "hgnc": "HGNC:11529",
        "name": "epithelial cell adhesion molecule",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/epcam"
      },
      {
        "slug": "trrap",
        "symbol": "TRRAP",
        "hgnc": "HGNC:12347",
        "name": "transformation/transcription domain associated protein",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trrap"
      },
      {
        "slug": "c2cd3",
        "symbol": "C2CD3",
        "hgnc": "HGNC:24564",
        "name": "C2 domain containing 3 centriole elongation regulator",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c2cd3"
      },
      {
        "slug": "nipbl",
        "symbol": "NIPBL",
        "hgnc": "HGNC:28862",
        "name": "NIPBL cohesin loading factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nipbl"
      },
      {
        "slug": "tmem216",
        "symbol": "TMEM216",
        "hgnc": "HGNC:25018",
        "name": "transmembrane protein 216",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem216"
      }
    ]
  }
}