{
  "url": "https://dantelabs.com/traits/peripapillary-atrophy",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "peripapillary-atrophy",
    "id": "HP:0500087",
    "name": "Peripapillary atrophy",
    "definition": "Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "diffuse-optic-disc-pallor",
        "name": "Diffuse optic disc pallor",
        "url": "https://dantelabs.com/traits/diffuse-optic-disc-pallor"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "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": "klhl7",
        "symbol": "KLHL7",
        "hgnc": "HGNC:15646",
        "name": "kelch like family member 7",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/klhl7"
      },
      {
        "slug": "tub",
        "symbol": "TUB",
        "hgnc": "HGNC:12406",
        "name": "TUB bipartite transcription factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tub"
      },
      {
        "slug": "cnga3",
        "symbol": "CNGA3",
        "hgnc": "HGNC:2150",
        "name": "cyclic nucleotide gated channel subunit alpha 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cnga3"
      },
      {
        "slug": "pomgnt1",
        "symbol": "POMGNT1",
        "hgnc": "HGNC:19139",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomgnt1"
      },
      {
        "slug": "tulp1",
        "symbol": "TULP1",
        "hgnc": "HGNC:12423",
        "name": "TUB like protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tulp1"
      },
      {
        "slug": "znf408",
        "symbol": "ZNF408",
        "hgnc": "HGNC:20041",
        "name": "zinc finger protein 408",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf408"
      },
      {
        "slug": "b3galt6",
        "symbol": "B3GALT6",
        "hgnc": "HGNC:17978",
        "name": "beta-1,3-galactosyltransferase 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b3galt6"
      },
      {
        "slug": "c1qtnf5",
        "symbol": "C1QTNF5",
        "hgnc": "HGNC:14344",
        "name": "C1q and TNF related 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c1qtnf5"
      },
      {
        "slug": "hgsnat",
        "symbol": "HGSNAT",
        "hgnc": "HGNC:26527",
        "name": "heparan-alpha-glucosaminide N-acetyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hgsnat"
      },
      {
        "slug": "tubb4b",
        "symbol": "TUBB4B",
        "hgnc": "HGNC:20771",
        "name": "tubulin beta 4B class IVb",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubb4b"
      },
      {
        "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": "mmp19",
        "symbol": "MMP19",
        "hgnc": "HGNC:7165",
        "name": "matrix metallopeptidase 19",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp19"
      },
      {
        "slug": "scaper",
        "symbol": "SCAPER",
        "hgnc": "HGNC:13081",
        "name": "S-phase cyclin A associated protein in the ER",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scaper"
      }
    ]
  }
}