{
  "url": "https://dantelabs.com/traits/chorioretinal-hypopigmentation",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "chorioretinal-hypopigmentation",
    "id": "HP:0040030",
    "name": "Chorioretinal hypopigmentation",
    "definition": "Focal or global or heterogeneous loss of choroidal and retinal pigment epithelium (RPE) pigmentation in the absence of atrophy.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormality-of-chorioretinal-pigmentation",
        "name": "Abnormality of chorioretinal pigmentation",
        "url": "https://dantelabs.com/traits/abnormality-of-chorioretinal-pigmentation"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "dct",
        "symbol": "DCT",
        "hgnc": "HGNC:2709",
        "name": "dopachrome tautomerase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dct"
      },
      {
        "slug": "pax6",
        "symbol": "PAX6",
        "hgnc": "HGNC:8620",
        "name": "paired box 6",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pax6"
      },
      {
        "slug": "wt1",
        "symbol": "WT1",
        "hgnc": "HGNC:12796",
        "name": "WT1 transcription factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wt1"
      },
      {
        "slug": "fas",
        "symbol": "FAS",
        "hgnc": "HGNC:11920",
        "name": "Fas cell surface death receptor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fas"
      },
      {
        "slug": "hla-drb1",
        "symbol": "HLA-DRB1",
        "hgnc": "HGNC:4948",
        "name": "major histocompatibility complex, class II, DR beta 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-drb1"
      },
      {
        "slug": "ifng",
        "symbol": "IFNG",
        "hgnc": "HGNC:5438",
        "name": "interferon gamma",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ifng"
      },
      {
        "slug": "ptpn22",
        "symbol": "PTPN22",
        "hgnc": "HGNC:9652",
        "name": "protein tyrosine phosphatase non-receptor type 22",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptpn22"
      },
      {
        "slug": "tsc1",
        "symbol": "TSC1",
        "hgnc": "HGNC:12362",
        "name": "TSC complex subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsc1"
      },
      {
        "slug": "tsc2",
        "symbol": "TSC2",
        "hgnc": "HGNC:12363",
        "name": "TSC complex subunit 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsc2"
      },
      {
        "slug": "magel2",
        "symbol": "MAGEL2",
        "hgnc": "HGNC:6814",
        "name": "MAGE family member L2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/magel2"
      },
      {
        "slug": "sim1",
        "symbol": "SIM1",
        "hgnc": "HGNC:10882",
        "name": "SIM bHLH transcription factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sim1"
      },
      {
        "slug": "vps33a",
        "symbol": "VPS33A",
        "hgnc": "HGNC:18179",
        "name": "VPS33A core subunit of CORVET and HOPS complexes",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps33a"
      },
      {
        "slug": "slc25a15",
        "symbol": "SLC25A15",
        "hgnc": "HGNC:10985",
        "name": "solute carrier family 25 member 15",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc25a15"
      }
    ]
  }
}