{
  "url": "https://dantelabs.com/traits/abnormal-pupil-morphology",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "abnormal-pupil-morphology",
    "id": "HP:0000615",
    "name": "Abnormality of the pupil",
    "label": "Abnormal pupil morphology",
    "definition": "An abnormality of the pupil.",
    "synonyms": [
      "Pupillary abnormalities",
      "Pupillary abnormality",
      "Abnormal pupillary morphology"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormality-iris-morphology",
        "name": "Abnormality of the iris",
        "url": "https://dantelabs.com/traits/abnormality-iris-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "ectopia-pupillae",
        "name": "Displaced pupil",
        "genes": 24,
        "url": "https://dantelabs.com/traits/ectopia-pupillae"
      },
      {
        "slug": "anisocoria",
        "name": "Asymmetric pupil sizes",
        "genes": 17,
        "url": "https://dantelabs.com/traits/anisocoria"
      },
      {
        "slug": "persistent-pupillary-membrane",
        "name": "Persistent pupillary membrane",
        "genes": 12,
        "url": "https://dantelabs.com/traits/persistent-pupillary-membrane"
      },
      {
        "slug": "leukocoria",
        "name": "Leukocoria",
        "genes": 10,
        "url": "https://dantelabs.com/traits/leukocoria"
      },
      {
        "slug": "abnormal-pupil-shape",
        "name": "Irregular pupil",
        "genes": 6,
        "url": "https://dantelabs.com/traits/abnormal-pupil-shape"
      },
      {
        "slug": "microcoria",
        "name": "Microcoria",
        "genes": 4,
        "url": "https://dantelabs.com/traits/microcoria"
      },
      {
        "slug": "polycoria",
        "name": "Multiple pupils",
        "genes": 2,
        "url": "https://dantelabs.com/traits/polycoria"
      }
    ],
    "genes": [
      {
        "slug": "ap3d1",
        "symbol": "AP3D1",
        "hgnc": "HGNC:568",
        "name": "adaptor related protein complex 3 subunit delta 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap3d1"
      },
      {
        "slug": "elp1",
        "symbol": "ELP1",
        "hgnc": "HGNC:5959",
        "name": "elongator acetyltransferase complex subunit 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/elp1"
      },
      {
        "slug": "gpr143",
        "symbol": "GPR143",
        "hgnc": "HGNC:20145",
        "name": "G protein-coupled receptor 143",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpr143"
      },
      {
        "slug": "ocrl",
        "symbol": "OCRL",
        "hgnc": "HGNC:8108",
        "name": "OCRL inositol polyphosphate-5-phosphatase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ocrl"
      },
      {
        "slug": "phox2b",
        "symbol": "PHOX2B",
        "hgnc": "HGNC:9143",
        "name": "paired like homeobox 2B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phox2b"
      },
      {
        "slug": "pten",
        "symbol": "PTEN",
        "hgnc": "HGNC:9588",
        "name": "phosphatase and tensin homolog",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pten"
      },
      {
        "slug": "mpz",
        "symbol": "MPZ",
        "hgnc": "HGNC:7225",
        "name": "myelin protein zero",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mpz"
      },
      {
        "slug": "pik3r1",
        "symbol": "PIK3R1",
        "hgnc": "HGNC:8979",
        "name": "phosphoinositide-3-kinase regulatory subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3r1"
      },
      {
        "slug": "pmp22",
        "symbol": "PMP22",
        "hgnc": "HGNC:9118",
        "name": "peripheral myelin protein 22",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pmp22"
      },
      {
        "slug": "chn1",
        "symbol": "CHN1",
        "hgnc": "HGNC:1943",
        "name": "chimerin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chn1"
      },
      {
        "slug": "krt25",
        "symbol": "KRT25",
        "hgnc": "HGNC:30839",
        "name": "keratin 25",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/krt25"
      },
      {
        "slug": "krt71",
        "symbol": "KRT71",
        "hgnc": "HGNC:28927",
        "name": "keratin 71",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/krt71"
      },
      {
        "slug": "krt74",
        "symbol": "KRT74",
        "hgnc": "HGNC:28929",
        "name": "keratin 74",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/krt74"
      },
      {
        "slug": "liph",
        "symbol": "LIPH",
        "hgnc": "HGNC:18483",
        "name": "lipase H",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/liph"
      },
      {
        "slug": "lpar6",
        "symbol": "LPAR6",
        "hgnc": "HGNC:15520",
        "name": "lysophosphatidic acid receptor 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lpar6"
      },
      {
        "slug": "mafb",
        "symbol": "MAFB",
        "hgnc": "HGNC:6408",
        "name": "MAF bZIP transcription factor B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mafb"
      },
      {
        "slug": "ndp",
        "symbol": "NDP",
        "hgnc": "HGNC:7678",
        "name": "norrin cystine knot growth factor NDP",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndp"
      },
      {
        "slug": "sall4",
        "symbol": "SALL4",
        "hgnc": "HGNC:15924",
        "name": "spalt like transcription factor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sall4"
      },
      {
        "slug": "stim1",
        "symbol": "STIM1",
        "hgnc": "HGNC:11386",
        "name": "stromal interaction molecule 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stim1"
      },
      {
        "slug": "zeb2",
        "symbol": "ZEB2",
        "hgnc": "HGNC:14881",
        "name": "zinc finger E-box binding homeobox 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zeb2"
      }
    ]
  }
}