{
  "url": "https://dantelabs.com/traits/macular-dystrophy",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "macular-dystrophy",
    "id": "HP:0007754",
    "name": "Macular dystrophy",
    "definition": "Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin.",
    "synonyms": [],
    "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"
      },
      {
        "slug": "retinal-dystrophy",
        "name": "Breakdown of light-sensitive cells in back of eye",
        "url": "https://dantelabs.com/traits/retinal-dystrophy"
      }
    ],
    "narrower": [
      {
        "slug": "pattern-dystrophy-of-the-retina",
        "name": "Pattern dystrophy of the retina",
        "genes": 2,
        "url": "https://dantelabs.com/traits/pattern-dystrophy-of-the-retina"
      }
    ],
    "genes": [
      {
        "slug": "ahdc1",
        "symbol": "AHDC1",
        "hgnc": "HGNC:25230",
        "name": "AT-hook DNA binding motif containing 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ahdc1"
      },
      {
        "slug": "cdh3",
        "symbol": "CDH3",
        "hgnc": "HGNC:1762",
        "name": "cadherin 3",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/cdh3"
      },
      {
        "slug": "mfsd8",
        "symbol": "MFSD8",
        "hgnc": "HGNC:28486",
        "name": "major facilitator superfamily domain containing 8",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mfsd8"
      },
      {
        "slug": "samd7",
        "symbol": "SAMD7",
        "hgnc": "HGNC:25394",
        "name": "sterile alpha motif domain containing 7",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/samd7"
      },
      {
        "slug": "ubap1l",
        "symbol": "UBAP1L",
        "hgnc": "HGNC:40028",
        "name": "ubiquitin associated protein 1 like",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ubap1l"
      },
      {
        "slug": "cfh",
        "symbol": "CFH",
        "hgnc": "HGNC:4883",
        "name": "complement factor H",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfh"
      },
      {
        "slug": "cfi",
        "symbol": "CFI",
        "hgnc": "HGNC:5394",
        "name": "complement factor I",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfi"
      },
      {
        "slug": "efemp1",
        "symbol": "EFEMP1",
        "hgnc": "HGNC:3218",
        "name": "EGF-like fibulin extracellular matrix protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/efemp1"
      },
      {
        "slug": "rp1l1",
        "symbol": "RP1L1",
        "hgnc": "HGNC:15946",
        "name": "RP1 like 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rp1l1"
      },
      {
        "slug": "timp3",
        "symbol": "TIMP3",
        "hgnc": "HGNC:11822",
        "name": "TIMP metallopeptidase inhibitor 3",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/timp3"
      },
      {
        "slug": "impg2",
        "symbol": "IMPG2",
        "hgnc": "HGNC:18362",
        "name": "interphotoreceptor matrix proteoglycan 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/impg2"
      },
      {
        "slug": "bbs5",
        "symbol": "BBS5",
        "hgnc": "HGNC:970",
        "name": "Bardet-Biedl syndrome 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbs5"
      },
      {
        "slug": "ccnq",
        "symbol": "CCNQ",
        "hgnc": "HGNC:28434",
        "name": "cyclin Q",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccnq"
      },
      {
        "slug": "myo5a",
        "symbol": "MYO5A",
        "hgnc": "HGNC:7602",
        "name": "myosin VA",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myo5a"
      },
      {
        "slug": "pex1",
        "symbol": "PEX1",
        "hgnc": "HGNC:8850",
        "name": "peroxisomal biogenesis factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex1"
      },
      {
        "slug": "best1",
        "symbol": "BEST1",
        "hgnc": "HGNC:12703",
        "name": "bestrophin 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/best1"
      },
      {
        "slug": "chst6",
        "symbol": "CHST6",
        "hgnc": "HGNC:6938",
        "name": "carbohydrate sulfotransferase 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chst6"
      },
      {
        "slug": "elovl4",
        "symbol": "ELOVL4",
        "hgnc": "HGNC:14415",
        "name": "ELOVL fatty acid elongase 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/elovl4"
      },
      {
        "slug": "impg1",
        "symbol": "IMPG1",
        "hgnc": "HGNC:6055",
        "name": "interphotoreceptor matrix proteoglycan 1",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/impg1"
      },
      {
        "slug": "prom1",
        "symbol": "PROM1",
        "hgnc": "HGNC:9454",
        "name": "prominin 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prom1"
      },
      {
        "slug": "prph2",
        "symbol": "PRPH2",
        "hgnc": "HGNC:9942",
        "name": "peripherin 2",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/prph2"
      },
      {
        "slug": "syce1",
        "symbol": "SYCE1",
        "hgnc": "HGNC:28852",
        "name": "synaptonemal complex central element protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syce1"
      }
    ]
  }
}