{
  "url": "https://dantelabs.com/traits/rieger-anomaly",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "rieger-anomaly",
    "id": "HP:0000558",
    "name": "Rieger anomaly",
    "definition": "A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "hypoplasia-of-the-iris",
        "name": "Underdeveloped iris",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-iris"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "adamtsl1",
        "symbol": "ADAMTSL1",
        "hgnc": "HGNC:14632",
        "name": "ADAMTS like 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adamtsl1"
      },
      {
        "slug": "cplx1",
        "symbol": "CPLX1",
        "hgnc": "HGNC:2309",
        "name": "complexin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cplx1"
      },
      {
        "slug": "ctbp1",
        "symbol": "CTBP1",
        "hgnc": "HGNC:2494",
        "name": "C-terminal binding protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctbp1"
      },
      {
        "slug": "fgfrl1",
        "symbol": "FGFRL1",
        "hgnc": "HGNC:3693",
        "name": "fibroblast growth factor receptor like 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfrl1"
      },
      {
        "slug": "letm1",
        "symbol": "LETM1",
        "hgnc": "HGNC:6556",
        "name": "leucine zipper and EF-hand containing transmembrane protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/letm1"
      },
      {
        "slug": "nsd2",
        "symbol": "NSD2",
        "hgnc": "HGNC:12766",
        "name": "nuclear receptor binding SET domain protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsd2"
      },
      {
        "slug": "lamb2",
        "symbol": "LAMB2",
        "hgnc": "HGNC:6487",
        "name": "laminin subunit beta 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lamb2"
      },
      {
        "slug": "pan2",
        "symbol": "PAN2",
        "hgnc": "HGNC:20074",
        "name": "poly(A) specific ribonuclease subunit PAN2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pan2"
      },
      {
        "slug": "pik3r1",
        "symbol": "PIK3R1",
        "hgnc": "HGNC:8979",
        "name": "phosphoinositide-3-kinase regulatory subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3r1"
      },
      {
        "slug": "foxc1",
        "symbol": "FOXC1",
        "hgnc": "HGNC:3800",
        "name": "forkhead box C1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxc1"
      },
      {
        "slug": "igf1r",
        "symbol": "IGF1R",
        "hgnc": "HGNC:5465",
        "name": "insulin like growth factor 1 receptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/igf1r"
      },
      {
        "slug": "pax6",
        "symbol": "PAX6",
        "hgnc": "HGNC:8620",
        "name": "paired box 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pax6"
      },
      {
        "slug": "pitx2",
        "symbol": "PITX2",
        "hgnc": "HGNC:9005",
        "name": "paired like homeodomain 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pitx2"
      }
    ]
  }
}