{
  "url": "https://dantelabs.com/traits/abnormal-macular-morphology",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "abnormal-macular-morphology",
    "id": "HP:0001103",
    "name": "Abnormal macular morphology",
    "definition": "A structural abnormality of the macula, a region that, in a clinical context, is typically used to describe the central part of the retina within the vascular arcades.",
    "synonyms": [
      "Abnormality of the macula",
      "Macula abnormality",
      "Macular abnormality"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-retinal-morphology",
        "name": "Retina issue",
        "url": "https://dantelabs.com/traits/abnormal-retinal-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "macular-degeneration",
        "name": "Macular degeneration",
        "genes": 68,
        "url": "https://dantelabs.com/traits/macular-degeneration"
      },
      {
        "slug": "choroidal-neovascularization",
        "name": "Choroidal neovascularization",
        "genes": 23,
        "url": "https://dantelabs.com/traits/choroidal-neovascularization"
      },
      {
        "slug": "macular-dystrophy",
        "name": "Macular dystrophy",
        "genes": 22,
        "url": "https://dantelabs.com/traits/macular-dystrophy"
      },
      {
        "slug": "macular-pseudocoloboma",
        "name": "Macular pseudocoloboma",
        "genes": 16,
        "url": "https://dantelabs.com/traits/macular-pseudocoloboma"
      },
      {
        "slug": "abnormal-macular-pigmentation",
        "name": "Abnormal macular pigmentation",
        "genes": 12,
        "url": "https://dantelabs.com/traits/abnormal-macular-pigmentation"
      },
      {
        "slug": "cherry-red-spot-of-the-macula",
        "name": "Cherry red spot of the macula",
        "genes": 12,
        "url": "https://dantelabs.com/traits/cherry-red-spot-of-the-macula"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-macula",
        "name": "Aplasia/Hypoplasia of the macula",
        "genes": 10,
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-macula"
      },
      {
        "slug": "yellow-white-macular-lesion",
        "name": "Yellow/white macular lesion",
        "genes": 10,
        "url": "https://dantelabs.com/traits/yellow-white-macular-lesion"
      },
      {
        "slug": "abnormal-foveal-morphology",
        "name": "Abnormal foveal morphology",
        "genes": 7,
        "url": "https://dantelabs.com/traits/abnormal-foveal-morphology"
      },
      {
        "slug": "macular-hemorrhage",
        "name": "Macular hemorrhage",
        "genes": 7,
        "url": "https://dantelabs.com/traits/macular-hemorrhage"
      },
      {
        "slug": "macular-hole",
        "name": "Macular hole",
        "genes": 2,
        "url": "https://dantelabs.com/traits/macular-hole"
      },
      {
        "slug": "macular-thickening",
        "name": "Macular thickening",
        "genes": 1,
        "url": "https://dantelabs.com/traits/macular-thickening"
      },
      {
        "slug": "abnormal-macular-vasculature-morphology",
        "name": "Abnormal macular vasculature morphology",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-macular-vasculature-morphology"
      }
    ],
    "genes": [
      {
        "slug": "piga",
        "symbol": "PIGA",
        "hgnc": "HGNC:8957",
        "name": "phosphatidylinositol glycan anchor biosynthesis class A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/piga"
      },
      {
        "slug": "edn3",
        "symbol": "EDN3",
        "hgnc": "HGNC:3178",
        "name": "endothelin 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/edn3"
      },
      {
        "slug": "ednrb",
        "symbol": "EDNRB",
        "hgnc": "HGNC:3180",
        "name": "endothelin receptor type B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ednrb"
      },
      {
        "slug": "mitf",
        "symbol": "MITF",
        "hgnc": "HGNC:7105",
        "name": "melanocyte inducing transcription factor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mitf"
      },
      {
        "slug": "sox10",
        "symbol": "SOX10",
        "hgnc": "HGNC:11190",
        "name": "SRY-box transcription factor 10",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox10"
      },
      {
        "slug": "alms1",
        "symbol": "ALMS1",
        "hgnc": "HGNC:428",
        "name": "ALMS1 centrosome and basal body associated protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alms1"
      },
      {
        "slug": "ap3d1",
        "symbol": "AP3D1",
        "hgnc": "HGNC:568",
        "name": "adaptor related protein complex 3 subunit delta 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap3d1"
      },
      {
        "slug": "cabp4",
        "symbol": "CABP4",
        "hgnc": "HGNC:1386",
        "name": "calcium binding protein 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cabp4"
      },
      {
        "slug": "cog1",
        "symbol": "COG1",
        "hgnc": "HGNC:6545",
        "name": "component of oligomeric golgi complex 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cog1"
      },
      {
        "slug": "gpr143",
        "symbol": "GPR143",
        "hgnc": "HGNC:20145",
        "name": "G protein-coupled receptor 143",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpr143"
      },
      {
        "slug": "kcnj13",
        "symbol": "KCNJ13",
        "hgnc": "HGNC:6259",
        "name": "potassium inwardly rectifying channel subfamily J member 13",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnj13"
      },
      {
        "slug": "lca5",
        "symbol": "LCA5",
        "hgnc": "HGNC:31923",
        "name": "lebercilin LCA5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lca5"
      },
      {
        "slug": "lrat",
        "symbol": "LRAT",
        "hgnc": "HGNC:6685",
        "name": "lecithin retinol acyltransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrat"
      },
      {
        "slug": "ndp",
        "symbol": "NDP",
        "hgnc": "HGNC:7678",
        "name": "norrin cystine knot growth factor NDP",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ndp"
      },
      {
        "slug": "oat",
        "symbol": "OAT",
        "hgnc": "HGNC:8091",
        "name": "ornithine aminotransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/oat"
      },
      {
        "slug": "otx2",
        "symbol": "OTX2",
        "hgnc": "HGNC:8522",
        "name": "orthodenticle homeobox 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/otx2"
      },
      {
        "slug": "prph2",
        "symbol": "PRPH2",
        "hgnc": "HGNC:9942",
        "name": "peripherin 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prph2"
      },
      {
        "slug": "rpe65",
        "symbol": "RPE65",
        "hgnc": "HGNC:10294",
        "name": "retinoid isomerohydrolase RPE65",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpe65"
      },
      {
        "slug": "spata7",
        "symbol": "SPATA7",
        "hgnc": "HGNC:20423",
        "name": "spermatogenesis associated 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spata7"
      },
      {
        "slug": "atf6",
        "symbol": "ATF6",
        "hgnc": "HGNC:791",
        "name": "activating transcription factor 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atf6"
      },
      {
        "slug": "cnga3",
        "symbol": "CNGA3",
        "hgnc": "HGNC:2150",
        "name": "cyclic nucleotide gated channel subunit alpha 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cnga3"
      },
      {
        "slug": "cngb3",
        "symbol": "CNGB3",
        "hgnc": "HGNC:2153",
        "name": "cyclic nucleotide gated channel subunit beta 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cngb3"
      },
      {
        "slug": "epg5",
        "symbol": "EPG5",
        "hgnc": "HGNC:29331",
        "name": "ectopic P-granules 5 autophagy tethering factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/epg5"
      },
      {
        "slug": "fzd4",
        "symbol": "FZD4",
        "hgnc": "HGNC:4042",
        "name": "frizzled class receptor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fzd4"
      },
      {
        "slug": "gnat2",
        "symbol": "GNAT2",
        "hgnc": "HGNC:4394",
        "name": "G protein subunit alpha transducin 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnat2"
      },
      {
        "slug": "lrp5",
        "symbol": "LRP5",
        "hgnc": "HGNC:6697",
        "name": "LDL receptor related protein 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrp5"
      },
      {
        "slug": "pde6c",
        "symbol": "PDE6C",
        "hgnc": "HGNC:8787",
        "name": "phosphodiesterase 6C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pde6c"
      },
      {
        "slug": "pde6h",
        "symbol": "PDE6H",
        "hgnc": "HGNC:8790",
        "name": "phosphodiesterase 6H",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pde6h"
      },
      {
        "slug": "rpgr",
        "symbol": "RPGR",
        "hgnc": "HGNC:10295",
        "name": "retinitis pigmentosa GTPase regulator",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpgr"
      },
      {
        "slug": "dpm1",
        "symbol": "DPM1",
        "hgnc": "HGNC:3005",
        "name": "dolichyl-phosphate mannosyltransferase subunit 1, catalytic",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dpm1"
      },
      {
        "slug": "smpd1",
        "symbol": "SMPD1",
        "hgnc": "HGNC:11120",
        "name": "sphingomyelin phosphodiesterase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smpd1"
      }
    ]
  }
}