{
  "url": "https://dantelabs.com/traits/albinism",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "albinism",
    "id": "HP:0001022",
    "name": "Albinism",
    "definition": "An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).",
    "synonyms": [
      "Achromasia"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "generalized-hypopigmentation",
        "name": "Fair skin",
        "url": "https://dantelabs.com/traits/generalized-hypopigmentation"
      },
      {
        "slug": "hypopigmentation-of-hair",
        "name": "Loss of hair color",
        "url": "https://dantelabs.com/traits/hypopigmentation-of-hair"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "ap3b1",
        "symbol": "AP3B1",
        "hgnc": "HGNC:566",
        "name": "adaptor related protein complex 3 subunit beta 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap3b1"
      },
      {
        "slug": "ap3d1",
        "symbol": "AP3D1",
        "hgnc": "HGNC:568",
        "name": "adaptor related protein complex 3 subunit delta 1",
        "frequency": "obligate",
        "diseases": 1,
        "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": "ednrb",
        "symbol": "EDNRB",
        "hgnc": "HGNC:3180",
        "name": "endothelin receptor type B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ednrb"
      },
      {
        "slug": "hps3",
        "symbol": "HPS3",
        "hgnc": "HGNC:15597",
        "name": "HPS3 biogenesis of lysosomal organelles complex 2 subunit 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hps3"
      },
      {
        "slug": "hps4",
        "symbol": "HPS4",
        "hgnc": "HGNC:15844",
        "name": "HPS4 biogenesis of lysosomal organelles complex 3 subunit 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hps4"
      },
      {
        "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": "hps6",
        "symbol": "HPS6",
        "hgnc": "HGNC:18817",
        "name": "HPS6 biogenesis of lysosomal organelles complex 2 subunit 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hps6"
      },
      {
        "slug": "tyr",
        "symbol": "TYR",
        "hgnc": "HGNC:12442",
        "name": "tyrosinase",
        "frequency": "very-frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/tyr"
      },
      {
        "slug": "slc45a2",
        "symbol": "SLC45A2",
        "hgnc": "HGNC:16472",
        "name": "solute carrier family 45 member 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/slc45a2"
      },
      {
        "slug": "dtnbp1",
        "symbol": "DTNBP1",
        "hgnc": "HGNC:17328",
        "name": "dystrobrevin binding protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dtnbp1"
      },
      {
        "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": "lrmda",
        "symbol": "LRMDA",
        "hgnc": "HGNC:23405",
        "name": "leucine rich melanocyte differentiation associated",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrmda"
      },
      {
        "slug": "mc1r",
        "symbol": "MC1R",
        "hgnc": "HGNC:6929",
        "name": "melanocortin 1 receptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mc1r"
      },
      {
        "slug": "mitf",
        "symbol": "MITF",
        "hgnc": "HGNC:7105",
        "name": "melanocyte inducing transcription factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mitf"
      },
      {
        "slug": "oca2",
        "symbol": "OCA2",
        "hgnc": "HGNC:8101",
        "name": "OCA2 melanosomal transmembrane protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/oca2"
      },
      {
        "slug": "tyrp1",
        "symbol": "TYRP1",
        "hgnc": "HGNC:12450",
        "name": "tyrosinase related protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tyrp1"
      }
    ]
  }
}