{
  "url": "https://dantelabs.com/traits/partial-albinism",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "partial-albinism",
    "id": "HP:0007443",
    "name": "Partial absent skin pigmentation",
    "label": "Partial albinism",
    "definition": "Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.",
    "synonyms": [
      "Congenital partial albinism on face, trunk, or limbs",
      "Congenital partial leucoderma"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "hypopigmentation-of-the-skin",
        "name": "Patchy lightened skin",
        "url": "https://dantelabs.com/traits/hypopigmentation-of-the-skin"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "pax3",
        "symbol": "PAX3",
        "hgnc": "HGNC:8617",
        "name": "paired box 3",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pax3"
      },
      {
        "slug": "lamtor2",
        "symbol": "LAMTOR2",
        "hgnc": "HGNC:29796",
        "name": "late endosomal/lysosomal adaptor, MAPK and MTOR activator 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lamtor2"
      },
      {
        "slug": "myo5a",
        "symbol": "MYO5A",
        "hgnc": "HGNC:7602",
        "name": "myosin VA",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/myo5a"
      },
      {
        "slug": "rab27a",
        "symbol": "RAB27A",
        "hgnc": "HGNC:9766",
        "name": "RAB27A, member RAS oncogene family",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rab27a"
      },
      {
        "slug": "hps6",
        "symbol": "HPS6",
        "hgnc": "HGNC:18817",
        "name": "HPS6 biogenesis of lysosomal organelles complex 2 subunit 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hps6"
      },
      {
        "slug": "mlph",
        "symbol": "MLPH",
        "hgnc": "HGNC:29643",
        "name": "melanophilin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mlph"
      },
      {
        "slug": "zfx",
        "symbol": "ZFX",
        "hgnc": "HGNC:12869",
        "name": "zinc finger protein X-linked",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zfx"
      },
      {
        "slug": "kit",
        "symbol": "KIT",
        "hgnc": "HGNC:6342",
        "name": "KIT proto-oncogene, receptor tyrosine kinase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kit"
      },
      {
        "slug": "mitf",
        "symbol": "MITF",
        "hgnc": "HGNC:7105",
        "name": "melanocyte inducing transcription factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mitf"
      },
      {
        "slug": "tyrp1",
        "symbol": "TYRP1",
        "hgnc": "HGNC:12450",
        "name": "tyrosinase related protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tyrp1"
      }
    ]
  }
}