{
  "url": "https://dantelabs.com/traits/abnormality-iris-morphology",
  "trait": {
    "bundleId": "2026.10.16-c6eea6bf",
    "release": "2026-09-01",
    "slug": "abnormality-iris-morphology",
    "id": "HP:0000525",
    "name": "Abnormality of the iris",
    "label": "Abnormality iris morphology",
    "definition": "An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.",
    "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"
      },
      {
        "slug": "abnormal-uvea-morphology",
        "name": "Abnormal uvea morphology",
        "url": "https://dantelabs.com/traits/abnormal-uvea-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "iris-coloboma",
        "name": "Cat eye",
        "genes": 181,
        "url": "https://dantelabs.com/traits/iris-coloboma"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-iris",
        "name": "Absent/small iris",
        "genes": 64,
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-iris"
      },
      {
        "slug": "abnormal-pupil-morphology",
        "name": "Abnormality of the pupil",
        "genes": 20,
        "url": "https://dantelabs.com/traits/abnormal-pupil-morphology"
      },
      {
        "slug": "iris-atrophy",
        "name": "Iris degeneration",
        "genes": 14,
        "url": "https://dantelabs.com/traits/iris-atrophy"
      },
      {
        "slug": "iridodonesis",
        "name": "Iridodonesis",
        "genes": 8,
        "url": "https://dantelabs.com/traits/iridodonesis"
      },
      {
        "slug": "uveal-ectropion",
        "name": "Uveal ectropion",
        "genes": 7,
        "url": "https://dantelabs.com/traits/uveal-ectropion"
      },
      {
        "slug": "abnormal-iris-pigmentation",
        "name": "Abnormal iris pigmentation",
        "genes": 4,
        "url": "https://dantelabs.com/traits/abnormal-iris-pigmentation"
      },
      {
        "slug": "abnormal-iris-vasculature",
        "name": "Abnormality of iris blood vessels",
        "genes": 2,
        "url": "https://dantelabs.com/traits/abnormal-iris-vasculature"
      },
      {
        "slug": "iritis",
        "name": "Inflammation of iris",
        "genes": 2,
        "url": "https://dantelabs.com/traits/iritis"
      },
      {
        "slug": "iris-cyst",
        "name": "Iris cyst",
        "genes": 2,
        "url": "https://dantelabs.com/traits/iris-cyst"
      },
      {
        "slug": "iris-flocculi",
        "name": "Iris flocculi",
        "genes": 1,
        "url": "https://dantelabs.com/traits/iris-flocculi"
      },
      {
        "slug": "iris-nodule",
        "name": "Iris nodule",
        "genes": 1,
        "url": "https://dantelabs.com/traits/iris-nodule"
      }
    ],
    "genes": [
      {
        "slug": "nr4a2",
        "symbol": "NR4A2",
        "hgnc": "HGNC:7981",
        "name": "nuclear receptor subfamily 4 group A member 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nr4a2"
      },
      {
        "slug": "tbr1",
        "symbol": "TBR1",
        "hgnc": "HGNC:11590",
        "name": "T-box brain transcription factor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbr1"
      },
      {
        "slug": "acta2",
        "symbol": "ACTA2",
        "hgnc": "HGNC:130",
        "name": "actin alpha 2, smooth muscle",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acta2"
      },
      {
        "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": "efemp1",
        "symbol": "EFEMP1",
        "hgnc": "HGNC:3218",
        "name": "EGF-like fibulin extracellular matrix protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/efemp1"
      },
      {
        "slug": "efemp2",
        "symbol": "EFEMP2",
        "hgnc": "HGNC:3219",
        "name": "EGF-like fibulin extracellular matrix protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/efemp2"
      },
      {
        "slug": "eln",
        "symbol": "ELN",
        "hgnc": "HGNC:3327",
        "name": "elastin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eln"
      },
      {
        "slug": "fbn1",
        "symbol": "FBN1",
        "hgnc": "HGNC:3603",
        "name": "fibrillin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbn1"
      },
      {
        "slug": "foxe3",
        "symbol": "FOXE3",
        "hgnc": "HGNC:3808",
        "name": "forkhead box E3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxe3"
      },
      {
        "slug": "hey2",
        "symbol": "HEY2",
        "hgnc": "HGNC:4881",
        "name": "hes related family bHLH transcription factor with YRPW motif 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hey2"
      },
      {
        "slug": "lox",
        "symbol": "LOX",
        "hgnc": "HGNC:6664",
        "name": "lysyl oxidase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lox"
      },
      {
        "slug": "mat2a",
        "symbol": "MAT2A",
        "hgnc": "HGNC:6904",
        "name": "methionine adenosyltransferase 2A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mat2a"
      },
      {
        "slug": "mfap5",
        "symbol": "MFAP5",
        "hgnc": "HGNC:29673",
        "name": "microfibril associated protein 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mfap5"
      },
      {
        "slug": "myh11",
        "symbol": "MYH11",
        "hgnc": "HGNC:7569",
        "name": "myosin heavy chain 11",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myh11"
      },
      {
        "slug": "mylk",
        "symbol": "MYLK",
        "hgnc": "HGNC:7590",
        "name": "myosin light chain kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mylk"
      },
      {
        "slug": "myoc",
        "symbol": "MYOC",
        "hgnc": "HGNC:7610",
        "name": "myocilin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myoc"
      },
      {
        "slug": "prkg1",
        "symbol": "PRKG1",
        "hgnc": "HGNC:9414",
        "name": "protein kinase cGMP-dependent 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkg1"
      },
      {
        "slug": "smad2",
        "symbol": "SMAD2",
        "hgnc": "HGNC:6768",
        "name": "SMAD family member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad2"
      },
      {
        "slug": "smad3",
        "symbol": "SMAD3",
        "hgnc": "HGNC:6769",
        "name": "SMAD family member 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad3"
      },
      {
        "slug": "smad4",
        "symbol": "SMAD4",
        "hgnc": "HGNC:6770",
        "name": "SMAD family member 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad4"
      },
      {
        "slug": "tgfb2",
        "symbol": "TGFB2",
        "hgnc": "HGNC:11768",
        "name": "transforming growth factor beta 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgfb2"
      },
      {
        "slug": "tgfb3",
        "symbol": "TGFB3",
        "hgnc": "HGNC:11769",
        "name": "transforming growth factor beta 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgfb3"
      },
      {
        "slug": "tgfbr1",
        "symbol": "TGFBR1",
        "hgnc": "HGNC:11772",
        "name": "transforming growth factor beta receptor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgfbr1"
      },
      {
        "slug": "tgfbr2",
        "symbol": "TGFBR2",
        "hgnc": "HGNC:11773",
        "name": "transforming growth factor beta receptor 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgfbr2"
      },
      {
        "slug": "thsd4",
        "symbol": "THSD4",
        "hgnc": "HGNC:25835",
        "name": "thrombospondin type 1 domain containing 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/thsd4"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "gja1",
        "symbol": "GJA1",
        "hgnc": "HGNC:4274",
        "name": "gap junction protein alpha 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gja1"
      },
      {
        "slug": "gmppb",
        "symbol": "GMPPB",
        "hgnc": "HGNC:22932",
        "name": "GDP-mannose pyrophosphorylase B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gmppb"
      },
      {
        "slug": "pomgnt1",
        "symbol": "POMGNT1",
        "hgnc": "HGNC:19139",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
        "frequency": "occasional",
        "diseases": 1,
        "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": 1,
        "url": "https://dantelabs.com/genes/pomt1"
      },
      {
        "slug": "pomt2",
        "symbol": "POMT2",
        "hgnc": "HGNC:19743",
        "name": "protein O-mannosyltransferase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt2"
      }
    ]
  }
}