{
  "url": "https://dantelabs.com/traits/abnormally-large-globe",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "abnormally-large-globe",
    "id": "HP:0001090",
    "name": "Increased size of eyes",
    "label": "Abnormally large globe",
    "definition": "Diffusely large eye (with megalocornea) without glaucoma.",
    "synonyms": [
      "Large eyeballs",
      "Large eyes",
      "Megalophthalmos"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormality-of-globe-size",
        "name": "Abnormality of eyeball size",
        "url": "https://dantelabs.com/traits/abnormality-of-globe-size"
      }
    ],
    "narrower": [
      {
        "slug": "buphthalmos",
        "name": "Enlarged eyeball",
        "genes": 28,
        "url": "https://dantelabs.com/traits/buphthalmos"
      },
      {
        "slug": "increased-axial-length-of-the-globe",
        "name": "Increased front to back length of eyeball",
        "genes": 6,
        "url": "https://dantelabs.com/traits/increased-axial-length-of-the-globe"
      }
    ],
    "genes": [
      {
        "slug": "col2a1",
        "symbol": "COL2A1",
        "hgnc": "HGNC:2200",
        "name": "collagen type II alpha 1 chain",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col2a1"
      },
      {
        "slug": "fgfr2",
        "symbol": "FGFR2",
        "hgnc": "HGNC:3689",
        "name": "fibroblast growth factor receptor 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr2"
      },
      {
        "slug": "sh3pxd2b",
        "symbol": "SH3PXD2B",
        "hgnc": "HGNC:29242",
        "name": "SH3 and PX domains 2B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sh3pxd2b"
      },
      {
        "slug": "chsy1",
        "symbol": "CHSY1",
        "hgnc": "HGNC:17198",
        "name": "chondroitin sulfate synthase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chsy1"
      },
      {
        "slug": "kcnj6",
        "symbol": "KCNJ6",
        "hgnc": "HGNC:6267",
        "name": "potassium inwardly rectifying channel subfamily J member 6",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kcnj6"
      },
      {
        "slug": "pigv",
        "symbol": "PIGV",
        "hgnc": "HGNC:26031",
        "name": "phosphatidylinositol glycan anchor biosynthesis class V",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigv"
      },
      {
        "slug": "wdr26",
        "symbol": "WDR26",
        "hgnc": "HGNC:21208",
        "name": "WD repeat domain 26",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr26"
      },
      {
        "slug": "alkbh8",
        "symbol": "ALKBH8",
        "hgnc": "HGNC:25189",
        "name": "alkB homolog 8, tRNA methyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alkbh8"
      },
      {
        "slug": "fbxo11",
        "symbol": "FBXO11",
        "hgnc": "HGNC:13590",
        "name": "F-box protein 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxo11"
      },
      {
        "slug": "rnu4-2",
        "symbol": "RNU4-2",
        "hgnc": "HGNC:10193",
        "name": "RNA, U4 small nuclear 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4-2"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "hgnc": "HGNC:18060",
        "name": "aristaless related homeobox",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arx"
      },
      {
        "slug": "atr",
        "symbol": "ATR",
        "hgnc": "HGNC:882",
        "name": "ATR checkpoint kinase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atr"
      },
      {
        "slug": "b3gat3",
        "symbol": "B3GAT3",
        "hgnc": "HGNC:923",
        "name": "beta-1,3-glucuronyltransferase 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b3gat3"
      },
      {
        "slug": "cask",
        "symbol": "CASK",
        "hgnc": "HGNC:1497",
        "name": "calcium/calmodulin dependent serine protein kinase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cask"
      },
      {
        "slug": "chst3",
        "symbol": "CHST3",
        "hgnc": "HGNC:1971",
        "name": "carbohydrate sulfotransferase 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chst3"
      },
      {
        "slug": "kcnj1",
        "symbol": "KCNJ1",
        "hgnc": "HGNC:6255",
        "name": "potassium inwardly rectifying channel subfamily J member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnj1"
      },
      {
        "slug": "pik3r2",
        "symbol": "PIK3R2",
        "hgnc": "HGNC:8980",
        "name": "phosphoinositide-3-kinase regulatory subunit 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3r2"
      },
      {
        "slug": "pomk",
        "symbol": "POMK",
        "hgnc": "HGNC:26267",
        "name": "protein O-mannose kinase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomk"
      }
    ]
  }
}