{
  "url": "https://dantelabs.com/traits/freckling",
  "trait": {
    "bundleId": "2026.10.18-8b139e39",
    "release": "2026-09-01",
    "slug": "freckling",
    "id": "HP:0001480",
    "name": "Freckling",
    "definition": "The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-skin-pigmentation",
        "name": "Abnormal skin pigmentation",
        "url": "https://dantelabs.com/traits/abnormal-skin-pigmentation"
      }
    ],
    "narrower": [
      {
        "slug": "inguinal-freckling",
        "name": "Freckles in groin region",
        "genes": 6,
        "url": "https://dantelabs.com/traits/inguinal-freckling"
      },
      {
        "slug": "axillary-freckling",
        "name": "Axillary freckling",
        "genes": 4,
        "url": "https://dantelabs.com/traits/axillary-freckling"
      }
    ],
    "genes": [
      {
        "slug": "ercc4",
        "symbol": "ERCC4",
        "hgnc": "HGNC:3436",
        "name": "ERCC excision repair 4, endonuclease catalytic subunit",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ercc4"
      },
      {
        "slug": "ercc6",
        "symbol": "ERCC6",
        "hgnc": "HGNC:3438",
        "name": "ERCC excision repair 6, chromatin remodeling factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc6"
      },
      {
        "slug": "ercc8",
        "symbol": "ERCC8",
        "hgnc": "HGNC:3439",
        "name": "ERCC excision repair 8, CSA ubiquitin ligase complex subunit",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc8"
      },
      {
        "slug": "braf",
        "symbol": "BRAF",
        "hgnc": "HGNC:1097",
        "name": "B-Raf proto-oncogene, serine/threonine kinase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/braf"
      },
      {
        "slug": "ddb2",
        "symbol": "DDB2",
        "hgnc": "HGNC:2718",
        "name": "damage specific DNA binding protein 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddb2"
      },
      {
        "slug": "ercc2",
        "symbol": "ERCC2",
        "hgnc": "HGNC:3434",
        "name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ercc2"
      },
      {
        "slug": "ercc3",
        "symbol": "ERCC3",
        "hgnc": "HGNC:3435",
        "name": "ERCC excision repair 3, TFIIH core complex helicase subunit",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ercc3"
      },
      {
        "slug": "ercc5",
        "symbol": "ERCC5",
        "hgnc": "HGNC:3437",
        "name": "ERCC excision repair 5, endonuclease",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc5"
      },
      {
        "slug": "nf1",
        "symbol": "NF1",
        "hgnc": "HGNC:7765",
        "name": "neurofibromin 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nf1"
      },
      {
        "slug": "ptpn11",
        "symbol": "PTPN11",
        "hgnc": "HGNC:9644",
        "name": "protein tyrosine phosphatase non-receptor type 11",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptpn11"
      },
      {
        "slug": "raf1",
        "symbol": "RAF1",
        "hgnc": "HGNC:9829",
        "name": "Raf-1 proto-oncogene, serine/threonine kinase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/raf1"
      },
      {
        "slug": "tp63",
        "symbol": "TP63",
        "hgnc": "HGNC:15979",
        "name": "tumor protein p63",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/tp63"
      },
      {
        "slug": "tyr",
        "symbol": "TYR",
        "hgnc": "HGNC:12442",
        "name": "tyrosinase",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tyr"
      },
      {
        "slug": "xpa",
        "symbol": "XPA",
        "hgnc": "HGNC:12814",
        "name": "XPA, DNA damage recognition and repair factor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xpa"
      },
      {
        "slug": "xpc",
        "symbol": "XPC",
        "hgnc": "HGNC:12816",
        "name": "XPC complex subunit, DNA damage recognition and repair factor",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/xpc"
      },
      {
        "slug": "abcb6",
        "symbol": "ABCB6",
        "hgnc": "HGNC:47",
        "name": "ATP binding cassette subfamily B member 6 (LAN blood group)",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcb6"
      },
      {
        "slug": "acd",
        "symbol": "ACD",
        "hgnc": "HGNC:25070",
        "name": "ACD shelterin complex subunit and telomerase recruitment factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acd"
      },
      {
        "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": "bap1",
        "symbol": "BAP1",
        "hgnc": "HGNC:950",
        "name": "BRCA1 associated deubiquitinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bap1"
      },
      {
        "slug": "cdk4",
        "symbol": "CDK4",
        "hgnc": "HGNC:1773",
        "name": "cyclin dependent kinase 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdk4"
      },
      {
        "slug": "cdkn2a",
        "symbol": "CDKN2A",
        "hgnc": "HGNC:1787",
        "name": "cyclin dependent kinase inhibitor 2A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdkn2a"
      },
      {
        "slug": "cdkn2b",
        "symbol": "CDKN2B",
        "hgnc": "HGNC:1788",
        "name": "cyclin dependent kinase inhibitor 2B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdkn2b"
      },
      {
        "slug": "gpr143",
        "symbol": "GPR143",
        "hgnc": "HGNC:20145",
        "name": "G protein-coupled receptor 143",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpr143"
      },
      {
        "slug": "kat6a",
        "symbol": "KAT6A",
        "hgnc": "HGNC:13013",
        "name": "lysine acetyltransferase 6A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kat6a"
      },
      {
        "slug": "mc1r",
        "symbol": "MC1R",
        "hgnc": "HGNC:6929",
        "name": "melanocortin 1 receptor",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mc1r"
      },
      {
        "slug": "mgmt",
        "symbol": "MGMT",
        "hgnc": "HGNC:7059",
        "name": "O-6-methylguanine-DNA methyltransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mgmt"
      },
      {
        "slug": "mitf",
        "symbol": "MITF",
        "hgnc": "HGNC:7105",
        "name": "melanocyte inducing transcription factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mitf"
      },
      {
        "slug": "oca2",
        "symbol": "OCA2",
        "hgnc": "HGNC:8101",
        "name": "OCA2 melanosomal transmembrane protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/oca2"
      },
      {
        "slug": "porcn",
        "symbol": "PORCN",
        "hgnc": "HGNC:17652",
        "name": "porcupine O-acyltransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/porcn"
      },
      {
        "slug": "pot1",
        "symbol": "POT1",
        "hgnc": "HGNC:17284",
        "name": "protection of telomeres 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pot1"
      },
      {
        "slug": "sash1",
        "symbol": "SASH1",
        "hgnc": "HGNC:19182",
        "name": "SAM and SH3 domain containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sash1"
      },
      {
        "slug": "spred1",
        "symbol": "SPRED1",
        "hgnc": "HGNC:20249",
        "name": "sprouty related EVH1 domain containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spred1"
      },
      {
        "slug": "terf2ip",
        "symbol": "TERF2IP",
        "hgnc": "HGNC:19246",
        "name": "TERF2 interacting protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/terf2ip"
      },
      {
        "slug": "tert",
        "symbol": "TERT",
        "hgnc": "HGNC:11730",
        "name": "telomerase reverse transcriptase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tert"
      },
      {
        "slug": "tyrp1",
        "symbol": "TYRP1",
        "hgnc": "HGNC:12450",
        "name": "tyrosinase related protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tyrp1"
      },
      {
        "slug": "cdh3",
        "symbol": "CDH3",
        "hgnc": "HGNC:1762",
        "name": "cadherin 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdh3"
      },
      {
        "slug": "lef1",
        "symbol": "LEF1",
        "hgnc": "HGNC:6551",
        "name": "lymphoid enhancer binding factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lef1"
      },
      {
        "slug": "lztr1",
        "symbol": "LZTR1",
        "hgnc": "HGNC:6742",
        "name": "leucine zipper like post translational regulator 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lztr1"
      },
      {
        "slug": "nbn",
        "symbol": "NBN",
        "hgnc": "HGNC:7652",
        "name": "nibrin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nbn"
      },
      {
        "slug": "ppp1cb",
        "symbol": "PPP1CB",
        "hgnc": "HGNC:9282",
        "name": "protein phosphatase 1 catalytic subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp1cb"
      },
      {
        "slug": "hps1",
        "symbol": "HPS1",
        "hgnc": "HGNC:5163",
        "name": "HPS1 biogenesis of lysosomal organelles complex 3 subunit 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hps1"
      },
      {
        "slug": "prkar1a",
        "symbol": "PRKAR1A",
        "hgnc": "HGNC:9388",
        "name": "protein kinase cAMP-dependent type I regulatory subunit alpha",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkar1a"
      },
      {
        "slug": "sox18",
        "symbol": "SOX18",
        "hgnc": "HGNC:11194",
        "name": "SRY-box transcription factor 18",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox18"
      },
      {
        "slug": "uvssa",
        "symbol": "UVSSA",
        "hgnc": "HGNC:29304",
        "name": "UV stimulated scaffold protein A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/uvssa"
      }
    ]
  }
}