{
  "url": "https://dantelabs.com/traits/ocular-albinism",
  "trait": {
    "bundleId": "2026.10.16-c6eea6bf",
    "release": "2026-09-01",
    "slug": "ocular-albinism",
    "id": "HP:0001107",
    "name": "Absent pigmentation in the eye",
    "label": "Ocular albinism",
    "definition": "An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.",
    "synonyms": [
      "Albinism, Ocular"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-fundus-morphology",
        "name": "Abnormal fundus morphology",
        "url": "https://dantelabs.com/traits/abnormal-fundus-morphology"
      },
      {
        "slug": "iris-hypopigmentation",
        "name": "Light eye color",
        "url": "https://dantelabs.com/traits/iris-hypopigmentation"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "ap3d1",
        "symbol": "AP3D1",
        "hgnc": "HGNC:568",
        "name": "adaptor related protein complex 3 subunit delta 1",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/ap3d1"
      },
      {
        "slug": "bloc1s3",
        "symbol": "BLOC1S3",
        "hgnc": "HGNC:20914",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bloc1s3"
      },
      {
        "slug": "bloc1s5",
        "symbol": "BLOC1S5",
        "hgnc": "HGNC:18561",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 5",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bloc1s5"
      },
      {
        "slug": "bloc1s6",
        "symbol": "BLOC1S6",
        "hgnc": "HGNC:8549",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 6",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bloc1s6"
      },
      {
        "slug": "dtnbp1",
        "symbol": "DTNBP1",
        "hgnc": "HGNC:17328",
        "name": "dystrobrevin binding protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dtnbp1"
      },
      {
        "slug": "gpr143",
        "symbol": "GPR143",
        "hgnc": "HGNC:20145",
        "name": "G protein-coupled receptor 143",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gpr143"
      },
      {
        "slug": "hps5",
        "symbol": "HPS5",
        "hgnc": "HGNC:17022",
        "name": "HPS5 biogenesis of lysosomal organelles complex 2 subunit 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hps5"
      },
      {
        "slug": "sox10",
        "symbol": "SOX10",
        "hgnc": "HGNC:11190",
        "name": "SRY-box transcription factor 10",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox10"
      },
      {
        "slug": "lyst",
        "symbol": "LYST",
        "hgnc": "HGNC:1968",
        "name": "lysosomal trafficking regulator",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lyst"
      },
      {
        "slug": "tyr",
        "symbol": "TYR",
        "hgnc": "HGNC:12442",
        "name": "tyrosinase",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tyr"
      },
      {
        "slug": "slc45a2",
        "symbol": "SLC45A2",
        "hgnc": "HGNC:16472",
        "name": "solute carrier family 45 member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc45a2"
      },
      {
        "slug": "casz1",
        "symbol": "CASZ1",
        "hgnc": "HGNC:26002",
        "name": "castor zinc finger 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/casz1"
      },
      {
        "slug": "gabrd",
        "symbol": "GABRD",
        "hgnc": "HGNC:4084",
        "name": "gamma-aminobutyric acid type A receptor subunit delta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabrd"
      },
      {
        "slug": "hspg2",
        "symbol": "HSPG2",
        "hgnc": "HGNC:5273",
        "name": "heparan sulfate proteoglycan 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hspg2"
      },
      {
        "slug": "kcnab2",
        "symbol": "KCNAB2",
        "hgnc": "HGNC:6229",
        "name": "potassium voltage-gated channel subfamily A regulatory beta subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnab2"
      },
      {
        "slug": "luzp1",
        "symbol": "LUZP1",
        "hgnc": "HGNC:14985",
        "name": "leucine zipper protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/luzp1"
      },
      {
        "slug": "mmp23b",
        "symbol": "MMP23B",
        "hgnc": "HGNC:7171",
        "name": "matrix metallopeptidase 23B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp23b"
      },
      {
        "slug": "pdpn",
        "symbol": "PDPN",
        "hgnc": "HGNC:29602",
        "name": "podoplanin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdpn"
      },
      {
        "slug": "prdm16",
        "symbol": "PRDM16",
        "hgnc": "HGNC:14000",
        "name": "PR/SET domain 16",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prdm16"
      },
      {
        "slug": "prkcz",
        "symbol": "PRKCZ",
        "hgnc": "HGNC:9412",
        "name": "protein kinase C zeta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkcz"
      },
      {
        "slug": "rere",
        "symbol": "RERE",
        "hgnc": "HGNC:9965",
        "name": "arginine-glutamic acid dipeptide repeats",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rere"
      },
      {
        "slug": "ski",
        "symbol": "SKI",
        "hgnc": "HGNC:10896",
        "name": "SKI proto-oncogene",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ski"
      },
      {
        "slug": "spen",
        "symbol": "SPEN",
        "hgnc": "HGNC:17575",
        "name": "spen family transcriptional repressor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spen"
      },
      {
        "slug": "ube4b",
        "symbol": "UBE4B",
        "hgnc": "HGNC:12500",
        "name": "ubiquitination factor E4B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ube4b"
      },
      {
        "slug": "ap3b1",
        "symbol": "AP3B1",
        "hgnc": "HGNC:566",
        "name": "adaptor related protein complex 3 subunit beta 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap3b1"
      },
      {
        "slug": "epg5",
        "symbol": "EPG5",
        "hgnc": "HGNC:29331",
        "name": "ectopic P-granules 5 autophagy tethering factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/epg5"
      },
      {
        "slug": "hps1",
        "symbol": "HPS1",
        "hgnc": "HGNC:5163",
        "name": "HPS1 biogenesis of lysosomal organelles complex 3 subunit 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hps1"
      },
      {
        "slug": "hps4",
        "symbol": "HPS4",
        "hgnc": "HGNC:15844",
        "name": "HPS4 biogenesis of lysosomal organelles complex 3 subunit 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hps4"
      },
      {
        "slug": "hps6",
        "symbol": "HPS6",
        "hgnc": "HGNC:18817",
        "name": "HPS6 biogenesis of lysosomal organelles complex 2 subunit 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hps6"
      }
    ]
  }
}