{
  "url": "https://dantelabs.com/traits/coloboma",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "coloboma",
    "id": "HP:0000589",
    "name": "Notched pupil",
    "label": "Coloboma",
    "definition": "A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.",
    "synonyms": [
      "Ocular coloboma",
      "Ocular colobomas"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-eye-morphology",
        "name": "Abnormal eye structure",
        "url": "https://dantelabs.com/traits/abnormal-eye-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "iris-coloboma",
        "name": "Cat eye",
        "genes": 181,
        "url": "https://dantelabs.com/traits/iris-coloboma"
      },
      {
        "slug": "chorioretinal-coloboma",
        "name": "Birth defect that causes a hole in the innermost layer at the back of the eye",
        "genes": 52,
        "url": "https://dantelabs.com/traits/chorioretinal-coloboma"
      },
      {
        "slug": "optic-disc-coloboma",
        "name": "Optic disc coloboma",
        "genes": 33,
        "url": "https://dantelabs.com/traits/optic-disc-coloboma"
      },
      {
        "slug": "retinal-coloboma",
        "name": "Hole in the back of the eye",
        "genes": 32,
        "url": "https://dantelabs.com/traits/retinal-coloboma"
      },
      {
        "slug": "lens-coloboma",
        "name": "Lens coloboma",
        "genes": 6,
        "url": "https://dantelabs.com/traits/lens-coloboma"
      },
      {
        "slug": "ciliary-body-coloboma",
        "name": "Ciliary body coloboma",
        "genes": 2,
        "url": "https://dantelabs.com/traits/ciliary-body-coloboma"
      }
    ],
    "genes": [
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "hgnc": "HGNC:29253",
        "name": "coiled-coil and C2 domain containing 2A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cc2d2a"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "kdm2b",
        "symbol": "KDM2B",
        "hgnc": "HGNC:13610",
        "name": "lysine demethylase 2B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm2b"
      },
      {
        "slug": "nhej1",
        "symbol": "NHEJ1",
        "hgnc": "HGNC:25737",
        "name": "non-homologous end joining factor 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nhej1"
      },
      {
        "slug": "plvap",
        "symbol": "PLVAP",
        "hgnc": "HGNC:13635",
        "name": "plasmalemma vesicle associated protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plvap"
      },
      {
        "slug": "srd5a3",
        "symbol": "SRD5A3",
        "hgnc": "HGNC:25812",
        "name": "steroid 5 alpha-reductase 3",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/srd5a3"
      },
      {
        "slug": "capn15",
        "symbol": "CAPN15",
        "hgnc": "HGNC:11182",
        "name": "calpain 15",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/capn15"
      },
      {
        "slug": "chd7",
        "symbol": "CHD7",
        "hgnc": "HGNC:20626",
        "name": "chromodomain helicase DNA binding protein 7",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/chd7"
      },
      {
        "slug": "gdf3",
        "symbol": "GDF3",
        "hgnc": "HGNC:4218",
        "name": "growth differentiation factor 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gdf3"
      },
      {
        "slug": "gdf6",
        "symbol": "GDF6",
        "hgnc": "HGNC:4221",
        "name": "growth differentiation factor 6",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gdf6"
      },
      {
        "slug": "otx2",
        "symbol": "OTX2",
        "hgnc": "HGNC:8522",
        "name": "orthodenticle homeobox 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/otx2"
      },
      {
        "slug": "sema3e",
        "symbol": "SEMA3E",
        "hgnc": "HGNC:10727",
        "name": "semaphorin 3E",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sema3e"
      },
      {
        "slug": "tfap2a",
        "symbol": "TFAP2A",
        "hgnc": "HGNC:11742",
        "name": "transcription factor AP-2 alpha",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tfap2a"
      },
      {
        "slug": "wdr37",
        "symbol": "WDR37",
        "hgnc": "HGNC:31406",
        "name": "WD repeat domain 37",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr37"
      },
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "hgnc": "HGNC:144",
        "name": "actin gamma 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/actg1"
      },
      {
        "slug": "asxl1",
        "symbol": "ASXL1",
        "hgnc": "HGNC:18318",
        "name": "ASXL transcriptional regulator 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/asxl1"
      },
      {
        "slug": "mab21l2",
        "symbol": "MAB21L2",
        "hgnc": "HGNC:6758",
        "name": "mab-21 like 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mab21l2"
      },
      {
        "slug": "mitf",
        "symbol": "MITF",
        "hgnc": "HGNC:7105",
        "name": "melanocyte inducing transcription factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mitf"
      },
      {
        "slug": "nr4a2",
        "symbol": "NR4A2",
        "hgnc": "HGNC:7981",
        "name": "nuclear receptor subfamily 4 group A member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nr4a2"
      },
      {
        "slug": "pde6d",
        "symbol": "PDE6D",
        "hgnc": "HGNC:8788",
        "name": "phosphodiesterase 6D",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pde6d"
      },
      {
        "slug": "puf60",
        "symbol": "PUF60",
        "hgnc": "HGNC:17042",
        "name": "poly(U) binding splicing factor 60",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/puf60"
      },
      {
        "slug": "smchd1",
        "symbol": "SMCHD1",
        "hgnc": "HGNC:29090",
        "name": "structural maintenance of chromosomes flexible hinge domain containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smchd1"
      },
      {
        "slug": "tbc1d23",
        "symbol": "TBC1D23",
        "hgnc": "HGNC:25622",
        "name": "TBC1 domain family member 23",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d23"
      },
      {
        "slug": "tbr1",
        "symbol": "TBR1",
        "hgnc": "HGNC:11590",
        "name": "T-box brain transcription factor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbr1"
      },
      {
        "slug": "tbx22",
        "symbol": "TBX22",
        "hgnc": "HGNC:11600",
        "name": "T-box transcription factor 22",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tbx22"
      },
      {
        "slug": "tmem138",
        "symbol": "TMEM138",
        "hgnc": "HGNC:26944",
        "name": "transmembrane protein 138",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem138"
      },
      {
        "slug": "tmem67",
        "symbol": "TMEM67",
        "hgnc": "HGNC:28396",
        "name": "transmembrane protein 67",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem67"
      },
      {
        "slug": "cachd1",
        "symbol": "CACHD1",
        "hgnc": "HGNC:29314",
        "name": "cache domain containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cachd1"
      },
      {
        "slug": "gmppb",
        "symbol": "GMPPB",
        "hgnc": "HGNC:22932",
        "name": "GDP-mannose pyrophosphorylase B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gmppb"
      },
      {
        "slug": "hnrnpk",
        "symbol": "HNRNPK",
        "hgnc": "HGNC:5044",
        "name": "heterogeneous nuclear ribonucleoprotein K",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hnrnpk"
      },
      {
        "slug": "kdm6a",
        "symbol": "KDM6A",
        "hgnc": "HGNC:12637",
        "name": "lysine demethylase 6A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm6a"
      },
      {
        "slug": "kiaa0586",
        "symbol": "KIAA0586",
        "hgnc": "HGNC:19960",
        "name": "KIAA0586",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kiaa0586"
      },
      {
        "slug": "kif7",
        "symbol": "KIF7",
        "hgnc": "HGNC:30497",
        "name": "kinesin family member 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif7"
      },
      {
        "slug": "kmt2d",
        "symbol": "KMT2D",
        "hgnc": "HGNC:7133",
        "name": "lysine methyltransferase 2D",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kmt2d"
      },
      {
        "slug": "med16",
        "symbol": "MED16",
        "hgnc": "HGNC:17556",
        "name": "mediator complex subunit 16",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/med16"
      },
      {
        "slug": "pacs1",
        "symbol": "PACS1",
        "hgnc": "HGNC:30032",
        "name": "phosphofurin acidic cluster sorting protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pacs1"
      },
      {
        "slug": "pax6",
        "symbol": "PAX6",
        "hgnc": "HGNC:8620",
        "name": "paired box 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pax6"
      },
      {
        "slug": "pcyt1a",
        "symbol": "PCYT1A",
        "hgnc": "HGNC:8754",
        "name": "phosphate cytidylyltransferase 1A, choline",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pcyt1a"
      },
      {
        "slug": "pogz",
        "symbol": "POGZ",
        "hgnc": "HGNC:18801",
        "name": "pogo transposable element derived with ZNF domain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pogz"
      },
      {
        "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": 2,
        "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": "prmt7",
        "symbol": "PRMT7",
        "hgnc": "HGNC:25557",
        "name": "protein arginine methyltransferase 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prmt7"
      },
      {
        "slug": "rere",
        "symbol": "RERE",
        "hgnc": "HGNC:9965",
        "name": "arginine-glutamic acid dipeptide repeats",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rere"
      },
      {
        "slug": "sall4",
        "symbol": "SALL4",
        "hgnc": "HGNC:15924",
        "name": "spalt like transcription factor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sall4"
      },
      {
        "slug": "satb2",
        "symbol": "SATB2",
        "hgnc": "HGNC:21637",
        "name": "SATB homeobox 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/satb2"
      },
      {
        "slug": "shh",
        "symbol": "SHH",
        "hgnc": "HGNC:10848",
        "name": "sonic hedgehog signaling molecule",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/shh"
      },
      {
        "slug": "sin3a",
        "symbol": "SIN3A",
        "hgnc": "HGNC:19353",
        "name": "SIN3 transcription regulator family member A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sin3a"
      },
      {
        "slug": "six6",
        "symbol": "SIX6",
        "hgnc": "HGNC:10892",
        "name": "SIX homeobox 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/six6"
      },
      {
        "slug": "sox2",
        "symbol": "SOX2",
        "hgnc": "HGNC:11195",
        "name": "SRY-box transcription factor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox2"
      },
      {
        "slug": "specc1l",
        "symbol": "SPECC1L",
        "hgnc": "HGNC:29022",
        "name": "sperm antigen with calponin homology and coiled-coil domains 1 like",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/specc1l"
      },
      {
        "slug": "sptbn1",
        "symbol": "SPTBN1",
        "hgnc": "HGNC:11275",
        "name": "spectrin beta, non-erythrocytic 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptbn1"
      },
      {
        "slug": "tmem237",
        "symbol": "TMEM237",
        "hgnc": "HGNC:14432",
        "name": "transmembrane protein 237",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem237"
      },
      {
        "slug": "crebbp",
        "symbol": "CREBBP",
        "hgnc": "HGNC:2348",
        "name": "CREB binding lysine acetyltransferase",
        "frequency": "very-rare",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/crebbp"
      },
      {
        "slug": "eif3f",
        "symbol": "EIF3F",
        "hgnc": "HGNC:3275",
        "name": "eukaryotic translation initiation factor 3 subunit F",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eif3f"
      },
      {
        "slug": "ep300",
        "symbol": "EP300",
        "hgnc": "HGNC:3373",
        "name": "EP300 lysine acetyltransferase",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ep300"
      },
      {
        "slug": "hras",
        "symbol": "HRAS",
        "hgnc": "HGNC:5173",
        "name": "HRas proto-oncogene, GTPase",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hras"
      },
      {
        "slug": "ppp2r5c",
        "symbol": "PPP2R5C",
        "hgnc": "HGNC:9311",
        "name": "protein phosphatase 2 regulatory subunit B'gamma",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp2r5c"
      },
      {
        "slug": "pqbp1",
        "symbol": "PQBP1",
        "hgnc": "HGNC:9330",
        "name": "polyglutamine binding protein 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pqbp1"
      },
      {
        "slug": "alx3",
        "symbol": "ALX3",
        "hgnc": "HGNC:449",
        "name": "ALX homeobox 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alx3"
      },
      {
        "slug": "bmp4",
        "symbol": "BMP4",
        "hgnc": "HGNC:1071",
        "name": "bone morphogenetic protein 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bmp4"
      },
      {
        "slug": "dpyd",
        "symbol": "DPYD",
        "hgnc": "HGNC:3012",
        "name": "dihydropyrimidine dehydrogenase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dpyd"
      },
      {
        "slug": "esco2",
        "symbol": "ESCO2",
        "hgnc": "HGNC:27230",
        "name": "establishment of sister chromatid cohesion N-acetyltransferase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/esco2"
      },
      {
        "slug": "fibp",
        "symbol": "FIBP",
        "hgnc": "HGNC:3705",
        "name": "FGF1 intracellular binding protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fibp"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "hgnc": "HGNC:3622",
        "name": "fukutin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fktn"
      },
      {
        "slug": "foxe3",
        "symbol": "FOXE3",
        "hgnc": "HGNC:3808",
        "name": "forkhead box E3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxe3"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "hgnc": "HGNC:6407",
        "name": "KRas proto-oncogene, GTPase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kras"
      },
      {
        "slug": "large1",
        "symbol": "LARGE1",
        "hgnc": "HGNC:6511",
        "name": "LARGE xylosyl- and glucuronyltransferase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/large1"
      },
      {
        "slug": "med13l",
        "symbol": "MED13L",
        "hgnc": "HGNC:22962",
        "name": "mediator complex subunit 13L",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/med13l"
      },
      {
        "slug": "nras",
        "symbol": "NRAS",
        "hgnc": "HGNC:7989",
        "name": "NRAS proto-oncogene, GTPase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nras"
      },
      {
        "slug": "washc5",
        "symbol": "WASHC5",
        "hgnc": "HGNC:28984",
        "name": "WASH complex subunit 5",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/washc5"
      },
      {
        "slug": "zmiz1",
        "symbol": "ZMIZ1",
        "hgnc": "HGNC:16493",
        "name": "zinc finger MIZ-type containing 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zmiz1"
      }
    ]
  }
}