{
  "url": "https://dantelabs.com/traits/congenital-blindness",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "congenital-blindness",
    "id": "HP:0007875",
    "name": "Blindness present at birth",
    "label": "Congenital blindness",
    "definition": "Blindness with onset at birth.",
    "synonyms": [
      "Congenital amaurosis"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "blindness",
        "name": "Blindness",
        "url": "https://dantelabs.com/traits/blindness"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "atic",
        "symbol": "ATIC",
        "hgnc": "HGNC:794",
        "name": "5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/atic"
      },
      {
        "slug": "lrp5",
        "symbol": "LRP5",
        "hgnc": "HGNC:6697",
        "name": "LDL receptor related protein 5",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lrp5"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "hgnc": "HGNC:29021",
        "name": "centrosomal protein 290",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep290"
      },
      {
        "slug": "nsmce2",
        "symbol": "NSMCE2",
        "hgnc": "HGNC:26513",
        "name": "NSE2 SUMO ligase component of SMC5/6 complex",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsmce2"
      },
      {
        "slug": "sardh",
        "symbol": "SARDH",
        "hgnc": "HGNC:10536",
        "name": "sarcosine dehydrogenase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sardh"
      },
      {
        "slug": "xrcc4",
        "symbol": "XRCC4",
        "hgnc": "HGNC:12831",
        "name": "X-ray repair cross complementing 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xrcc4"
      },
      {
        "slug": "lrat",
        "symbol": "LRAT",
        "hgnc": "HGNC:6685",
        "name": "lecithin retinol acyltransferase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrat"
      },
      {
        "slug": "rd3",
        "symbol": "RD3",
        "hgnc": "HGNC:19689",
        "name": "RD3 regulator of GUCY2D",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rd3"
      }
    ]
  }
}