{
  "url": "https://dantelabs.com/traits/abnormal-macular-pigmentation",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "abnormal-macular-pigmentation",
    "id": "HP:0008002",
    "name": "Abnormal macular pigmentation",
    "definition": "Any deviation from the normal, uniform distribution or appearance of pigment within the macular region of the retina.",
    "synonyms": [
      "Abnormality of macular pigmentation"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-macular-morphology",
        "name": "Abnormal macular morphology",
        "url": "https://dantelabs.com/traits/abnormal-macular-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "bull-s-eye-maculopathy",
        "name": "Bull's eye maculopathy",
        "genes": 15,
        "url": "https://dantelabs.com/traits/bull-s-eye-maculopathy"
      },
      {
        "slug": "granular-macular-appearance",
        "name": "Granular macular appearance",
        "genes": 14,
        "url": "https://dantelabs.com/traits/granular-macular-appearance"
      },
      {
        "slug": "macular-hyperpigmentation",
        "name": "Macular hyperpigmentation",
        "genes": 7,
        "url": "https://dantelabs.com/traits/macular-hyperpigmentation"
      },
      {
        "slug": "macular-hypopigmentation",
        "name": "Macular hypopigmentation",
        "genes": 5,
        "url": "https://dantelabs.com/traits/macular-hypopigmentation"
      },
      {
        "slug": "beaten-bronze-macular-sheen",
        "name": "Beaten bronze macular sheen",
        "genes": 1,
        "url": "https://dantelabs.com/traits/beaten-bronze-macular-sheen"
      },
      {
        "slug": "abnormal-foveal-pigmentation",
        "name": "Abnormal foveal pigmentation",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-foveal-pigmentation"
      }
    ],
    "genes": [
      {
        "slug": "pcyt1a",
        "symbol": "PCYT1A",
        "hgnc": "HGNC:8754",
        "name": "phosphate cytidylyltransferase 1A, choline",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pcyt1a"
      },
      {
        "slug": "abca4",
        "symbol": "ABCA4",
        "hgnc": "HGNC:34",
        "name": "ATP binding cassette subfamily A member 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abca4"
      },
      {
        "slug": "cdh3",
        "symbol": "CDH3",
        "hgnc": "HGNC:1762",
        "name": "cadherin 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdh3"
      },
      {
        "slug": "cngb3",
        "symbol": "CNGB3",
        "hgnc": "HGNC:2153",
        "name": "cyclic nucleotide gated channel subunit beta 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cngb3"
      },
      {
        "slug": "elovl4",
        "symbol": "ELOVL4",
        "hgnc": "HGNC:14415",
        "name": "ELOVL fatty acid elongase 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/elovl4"
      },
      {
        "slug": "prom1",
        "symbol": "PROM1",
        "hgnc": "HGNC:9454",
        "name": "prominin 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prom1"
      },
      {
        "slug": "prph2",
        "symbol": "PRPH2",
        "hgnc": "HGNC:9942",
        "name": "peripherin 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prph2"
      },
      {
        "slug": "mmachc",
        "symbol": "MMACHC",
        "hgnc": "HGNC:24525",
        "name": "metabolism of cobalamin associated C",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmachc"
      },
      {
        "slug": "opn1lw",
        "symbol": "OPN1LW",
        "hgnc": "HGNC:9936",
        "name": "opsin 1, long wave sensitive",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/opn1lw"
      },
      {
        "slug": "opn1mw",
        "symbol": "OPN1MW",
        "hgnc": "HGNC:4206",
        "name": "opsin 1, medium wave sensitive",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/opn1mw"
      },
      {
        "slug": "cacna1f",
        "symbol": "CACNA1F",
        "hgnc": "HGNC:1393",
        "name": "calcium voltage-gated channel subunit alpha1 F",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1f"
      },
      {
        "slug": "rd3",
        "symbol": "RD3",
        "hgnc": "HGNC:19689",
        "name": "RD3 regulator of GUCY2D",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rd3"
      }
    ]
  }
}