{
  "url": "https://dantelabs.com/traits/limbal-stem-cell-deficiency",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "limbal-stem-cell-deficiency",
    "id": "HP:0032107",
    "name": "Limbal stem cell deficiency",
    "definition": "A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-anterior-eye-segment-morphology",
        "name": "Abnormal anterior eye segment morphology",
        "url": "https://dantelabs.com/traits/abnormal-anterior-eye-segment-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "foxc1",
        "symbol": "FOXC1",
        "hgnc": "HGNC:3800",
        "name": "forkhead box C1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxc1"
      },
      {
        "slug": "gjb2",
        "symbol": "GJB2",
        "hgnc": "HGNC:4284",
        "name": "gap junction protein beta 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gjb2"
      },
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "hgnc": "HGNC:4288",
        "name": "gap junction protein beta 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gjb6"
      },
      {
        "slug": "pax6",
        "symbol": "PAX6",
        "hgnc": "HGNC:8620",
        "name": "paired box 6",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pax6"
      },
      {
        "slug": "trim44",
        "symbol": "TRIM44",
        "hgnc": "HGNC:19016",
        "name": "TRIM family member 44",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trim44"
      },
      {
        "slug": "fgf10",
        "symbol": "FGF10",
        "hgnc": "HGNC:3666",
        "name": "fibroblast growth factor 10",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgf10"
      },
      {
        "slug": "fgfr2",
        "symbol": "FGFR2",
        "hgnc": "HGNC:3689",
        "name": "fibroblast growth factor receptor 2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fgfr2"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "hgnc": "HGNC:3690",
        "name": "fibroblast growth factor receptor 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr3"
      },
      {
        "slug": "ddr2",
        "symbol": "DDR2",
        "hgnc": "HGNC:2731",
        "name": "discoidin domain receptor tyrosine kinase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddr2"
      },
      {
        "slug": "nlrp1",
        "symbol": "NLRP1",
        "hgnc": "HGNC:14374",
        "name": "NLR family pyrin domain containing 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nlrp1"
      }
    ]
  }
}