{
  "url": "https://dantelabs.com/traits/megalocornea",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "megalocornea",
    "id": "HP:0000485",
    "name": "Enlarged cornea",
    "label": "Megalocornea",
    "definition": "An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.",
    "synonyms": [
      "Anterior megalophthalmos",
      "Increased corneal diameter",
      "Macrocornea"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormality-of-corneal-size",
        "name": "Abnormality of corneal size",
        "url": "https://dantelabs.com/traits/abnormality-of-corneal-size"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "antxr1",
        "symbol": "ANTXR1",
        "hgnc": "HGNC:21014",
        "name": "ANTXR cell adhesion molecule 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/antxr1"
      },
      {
        "slug": "chrdl1",
        "symbol": "CHRDL1",
        "hgnc": "HGNC:29861",
        "name": "chordin like 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chrdl1"
      },
      {
        "slug": "kdm2b",
        "symbol": "KDM2B",
        "hgnc": "HGNC:13610",
        "name": "lysine demethylase 2B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm2b"
      },
      {
        "slug": "fbn1",
        "symbol": "FBN1",
        "hgnc": "HGNC:3603",
        "name": "fibrillin 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbn1"
      },
      {
        "slug": "fgfr2",
        "symbol": "FGFR2",
        "hgnc": "HGNC:3689",
        "name": "fibroblast growth factor receptor 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr2"
      },
      {
        "slug": "sh3pxd2b",
        "symbol": "SH3PXD2B",
        "hgnc": "HGNC:29242",
        "name": "SH3 and PX domains 2B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sh3pxd2b"
      },
      {
        "slug": "cdh11",
        "symbol": "CDH11",
        "hgnc": "HGNC:1750",
        "name": "cadherin 11",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdh11"
      },
      {
        "slug": "cyp1b1",
        "symbol": "CYP1B1",
        "hgnc": "HGNC:2597",
        "name": "cytochrome P450 family 1 subfamily B member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp1b1"
      },
      {
        "slug": "ltbp2",
        "symbol": "LTBP2",
        "hgnc": "HGNC:6715",
        "name": "latent transforming growth factor beta binding protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ltbp2"
      },
      {
        "slug": "myoc",
        "symbol": "MYOC",
        "hgnc": "HGNC:7610",
        "name": "myocilin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myoc"
      },
      {
        "slug": "pik3r1",
        "symbol": "PIK3R1",
        "hgnc": "HGNC:8979",
        "name": "phosphoinositide-3-kinase regulatory subunit 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pik3r1"
      },
      {
        "slug": "tek",
        "symbol": "TEK",
        "hgnc": "HGNC:11724",
        "name": "TEK receptor tyrosine kinase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tek"
      },
      {
        "slug": "baz1b",
        "symbol": "BAZ1B",
        "hgnc": "HGNC:961",
        "name": "bromodomain adjacent to zinc finger domain 1B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/baz1b"
      },
      {
        "slug": "bud23",
        "symbol": "BUD23",
        "hgnc": "HGNC:16405",
        "name": "BUD23 rRNA methyltransferase and ribosome maturation factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bud23"
      },
      {
        "slug": "clip2",
        "symbol": "CLIP2",
        "hgnc": "HGNC:2586",
        "name": "CAP-Gly domain containing linker protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clip2"
      },
      {
        "slug": "cplx1",
        "symbol": "CPLX1",
        "hgnc": "HGNC:2309",
        "name": "complexin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cplx1"
      },
      {
        "slug": "ctbp1",
        "symbol": "CTBP1",
        "hgnc": "HGNC:2494",
        "name": "C-terminal binding protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctbp1"
      },
      {
        "slug": "dnajc30",
        "symbol": "DNAJC30",
        "hgnc": "HGNC:16410",
        "name": "DnaJ heat shock protein family (Hsp40) member C30",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnajc30"
      },
      {
        "slug": "eif4h",
        "symbol": "EIF4H",
        "hgnc": "HGNC:12741",
        "name": "eukaryotic translation initiation factor 4H",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eif4h"
      },
      {
        "slug": "eln",
        "symbol": "ELN",
        "hgnc": "HGNC:3327",
        "name": "elastin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eln"
      },
      {
        "slug": "fgd1",
        "symbol": "FGD1",
        "hgnc": "HGNC:3663",
        "name": "FYVE, RhoGEF and PH domain containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgd1"
      },
      {
        "slug": "fkbp6",
        "symbol": "FKBP6",
        "hgnc": "HGNC:3722",
        "name": "FKBP prolyl isomerase family member 6 (inactive)",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fkbp6"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "gmppb",
        "symbol": "GMPPB",
        "hgnc": "HGNC:22932",
        "name": "GDP-mannose pyrophosphorylase B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gmppb"
      },
      {
        "slug": "gtf2i",
        "symbol": "GTF2I",
        "hgnc": "HGNC:4659",
        "name": "general transcription factor IIi",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2i"
      },
      {
        "slug": "gtf2ird1",
        "symbol": "GTF2IRD1",
        "hgnc": "HGNC:4661",
        "name": "GTF2I repeat domain containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2ird1"
      },
      {
        "slug": "gtf2ird2",
        "symbol": "GTF2IRD2",
        "hgnc": "HGNC:30775",
        "name": "GTF2I repeat domain containing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2ird2"
      },
      {
        "slug": "kcnma1",
        "symbol": "KCNMA1",
        "hgnc": "HGNC:6284",
        "name": "potassium calcium-activated channel subfamily M alpha 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnma1"
      },
      {
        "slug": "kifbp",
        "symbol": "KIFBP",
        "hgnc": "HGNC:23419",
        "name": "kinesin family binding protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kifbp"
      },
      {
        "slug": "letm1",
        "symbol": "LETM1",
        "hgnc": "HGNC:6556",
        "name": "leucine zipper and EF-hand containing transmembrane protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/letm1"
      },
      {
        "slug": "limk1",
        "symbol": "LIMK1",
        "hgnc": "HGNC:6613",
        "name": "LIM domain kinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/limk1"
      },
      {
        "slug": "maf",
        "symbol": "MAF",
        "hgnc": "HGNC:6776",
        "name": "MAF bZIP transcription factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/maf"
      },
      {
        "slug": "mettl27",
        "symbol": "METTL27",
        "hgnc": "HGNC:19068",
        "name": "methyltransferase like 27",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mettl27"
      },
      {
        "slug": "ncf1",
        "symbol": "NCF1",
        "hgnc": "HGNC:7660",
        "name": "neutrophil cytosolic factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncf1"
      },
      {
        "slug": "nelfa",
        "symbol": "NELFA",
        "hgnc": "HGNC:12768",
        "name": "negative elongation factor complex member A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nelfa"
      },
      {
        "slug": "nsd2",
        "symbol": "NSD2",
        "hgnc": "HGNC:12766",
        "name": "nuclear receptor binding SET domain protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsd2"
      },
      {
        "slug": "pigg",
        "symbol": "PIGG",
        "hgnc": "HGNC:25985",
        "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigg"
      },
      {
        "slug": "pomgnt1",
        "symbol": "POMGNT1",
        "hgnc": "HGNC:19139",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pomgnt1"
      },
      {
        "slug": "pomk",
        "symbol": "POMK",
        "hgnc": "HGNC:26267",
        "name": "protein O-mannose kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomk"
      },
      {
        "slug": "pomt1",
        "symbol": "POMT1",
        "hgnc": "HGNC:9202",
        "name": "protein O-mannosyltransferase 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pomt1"
      },
      {
        "slug": "pomt2",
        "symbol": "POMT2",
        "hgnc": "HGNC:19743",
        "name": "protein O-mannosyltransferase 2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pomt2"
      },
      {
        "slug": "ppp2ca",
        "symbol": "PPP2CA",
        "hgnc": "HGNC:9299",
        "name": "protein phosphatase 2 catalytic subunit alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp2ca"
      },
      {
        "slug": "rfc2",
        "symbol": "RFC2",
        "hgnc": "HGNC:9970",
        "name": "replication factor C subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfc2"
      },
      {
        "slug": "stx1a",
        "symbol": "STX1A",
        "hgnc": "HGNC:11433",
        "name": "syntaxin 1A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stx1a"
      },
      {
        "slug": "tbl2",
        "symbol": "TBL2",
        "hgnc": "HGNC:11586",
        "name": "transducin beta like 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbl2"
      },
      {
        "slug": "tmem270",
        "symbol": "TMEM270",
        "hgnc": "HGNC:23018",
        "name": "transmembrane protein 270",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem270"
      },
      {
        "slug": "vps37d",
        "symbol": "VPS37D",
        "hgnc": "HGNC:18287",
        "name": "VPS37D subunit of ESCRT-I",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps37d"
      },
      {
        "slug": "mt-cyb",
        "symbol": "MT-CYB",
        "hgnc": "HGNC:7427",
        "name": "mitochondrially encoded cytochrome b",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-cyb"
      },
      {
        "slug": "prdm5",
        "symbol": "PRDM5",
        "hgnc": "HGNC:9349",
        "name": "PR/SET domain 5",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prdm5"
      },
      {
        "slug": "znf469",
        "symbol": "ZNF469",
        "hgnc": "HGNC:23216",
        "name": "zinc finger protein 469",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf469"
      },
      {
        "slug": "col11a1",
        "symbol": "COL11A1",
        "hgnc": "HGNC:2186",
        "name": "collagen type XI alpha 1 chain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col11a1"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "hgnc": "HGNC:3622",
        "name": "fukutin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fktn"
      },
      {
        "slug": "gnptab",
        "symbol": "GNPTAB",
        "hgnc": "HGNC:29670",
        "name": "N-acetylglucosamine-1-phosphate transferase subunits alpha and beta",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnptab"
      },
      {
        "slug": "large1",
        "symbol": "LARGE1",
        "hgnc": "HGNC:6511",
        "name": "LARGE xylosyl- and glucuronyltransferase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/large1"
      },
      {
        "slug": "pitx2",
        "symbol": "PITX2",
        "hgnc": "HGNC:9005",
        "name": "paired like homeodomain 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pitx2"
      },
      {
        "slug": "tinf2",
        "symbol": "TINF2",
        "hgnc": "HGNC:11824",
        "name": "TERF1 interacting nuclear factor 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tinf2"
      }
    ]
  }
}