{
  "url": "https://dantelabs.com/traits/macule",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "macule",
    "id": "HP:0012733",
    "name": "Flat, discolored area of skin",
    "label": "Macule",
    "definition": "A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.",
    "synonyms": [
      "Flat, discoloured area of skin"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "localized-skin-lesion",
        "name": "Localized skin lesion",
        "url": "https://dantelabs.com/traits/localized-skin-lesion"
      }
    ],
    "narrower": [
      {
        "slug": "hypermelanotic-macule",
        "name": "Hyperpigmented skin patches",
        "genes": 69,
        "url": "https://dantelabs.com/traits/hypermelanotic-macule"
      },
      {
        "slug": "hypopigmented-macule",
        "name": "Hypopigmented macule",
        "genes": 13,
        "url": "https://dantelabs.com/traits/hypopigmented-macule"
      },
      {
        "slug": "erythematous-macule",
        "name": "Erythematous macule",
        "genes": 4,
        "url": "https://dantelabs.com/traits/erythematous-macule"
      },
      {
        "slug": "hyperpigmented-hypopigmented-macules",
        "name": "Hyperpigmented/hypopigmented macules",
        "genes": 4,
        "url": "https://dantelabs.com/traits/hyperpigmented-hypopigmented-macules"
      }
    ],
    "genes": [
      {
        "slug": "adam10",
        "symbol": "ADAM10",
        "hgnc": "HGNC:188",
        "name": "ADAM metallopeptidase domain 10",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adam10"
      },
      {
        "slug": "ggcx",
        "symbol": "GGCX",
        "hgnc": "HGNC:4247",
        "name": "gamma-glutamyl carboxylase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ggcx"
      },
      {
        "slug": "kdm6b",
        "symbol": "KDM6B",
        "hgnc": "HGNC:29012",
        "name": "lysine demethylase 6B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm6b"
      },
      {
        "slug": "smarcal1",
        "symbol": "SMARCAL1",
        "hgnc": "HGNC:11102",
        "name": "SNF2 related chromatin remodeling annealing helicase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smarcal1"
      },
      {
        "slug": "abcb6",
        "symbol": "ABCB6",
        "hgnc": "HGNC:47",
        "name": "ATP binding cassette subfamily B member 6 (LAN blood group)",
        "frequency": "very-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": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acd"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "hgnc": "HGNC:225",
        "name": "adenosine deaminase RNA specific",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adar"
      },
      {
        "slug": "ctc1",
        "symbol": "CTC1",
        "hgnc": "HGNC:26169",
        "name": "CST telomere replication complex component 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctc1"
      },
      {
        "slug": "cyba",
        "symbol": "CYBA",
        "hgnc": "HGNC:2577",
        "name": "cytochrome b-245 alpha chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyba"
      },
      {
        "slug": "cybb",
        "symbol": "CYBB",
        "hgnc": "HGNC:2578",
        "name": "cytochrome b-245 beta chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cybb"
      },
      {
        "slug": "cybc1",
        "symbol": "CYBC1",
        "hgnc": "HGNC:28672",
        "name": "cytochrome b-245 chaperone 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cybc1"
      },
      {
        "slug": "dkc1",
        "symbol": "DKC1",
        "hgnc": "HGNC:2890",
        "name": "dyskerin pseudouridine synthase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dkc1"
      },
      {
        "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": "gja1",
        "symbol": "GJA1",
        "hgnc": "HGNC:4274",
        "name": "gap junction protein alpha 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gja1"
      },
      {
        "slug": "gjb3",
        "symbol": "GJB3",
        "hgnc": "HGNC:4285",
        "name": "gap junction protein beta 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gjb3"
      },
      {
        "slug": "gjb4",
        "symbol": "GJB4",
        "hgnc": "HGNC:4286",
        "name": "gap junction protein beta 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gjb4"
      },
      {
        "slug": "hla-b",
        "symbol": "HLA-B",
        "hgnc": "HGNC:4932",
        "name": "major histocompatibility complex, class I, B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-b"
      },
      {
        "slug": "hla-dqb1",
        "symbol": "HLA-DQB1",
        "hgnc": "HGNC:4944",
        "name": "major histocompatibility complex, class II, DQ beta 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-dqb1"
      },
      {
        "slug": "hla-drb1",
        "symbol": "HLA-DRB1",
        "hgnc": "HGNC:4948",
        "name": "major histocompatibility complex, class II, DR beta 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-drb1"
      },
      {
        "slug": "ikzf1",
        "symbol": "IKZF1",
        "hgnc": "HGNC:13176",
        "name": "IKAROS family zinc finger 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ikzf1"
      },
      {
        "slug": "kdsr",
        "symbol": "KDSR",
        "hgnc": "HGNC:4021",
        "name": "3-ketodihydrosphingosine reductase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdsr"
      },
      {
        "slug": "ncf1",
        "symbol": "NCF1",
        "hgnc": "HGNC:7660",
        "name": "neutrophil cytosolic factor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncf1"
      },
      {
        "slug": "ncf2",
        "symbol": "NCF2",
        "hgnc": "HGNC:7661",
        "name": "neutrophil cytosolic factor 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncf2"
      },
      {
        "slug": "ncf4",
        "symbol": "NCF4",
        "hgnc": "HGNC:7662",
        "name": "neutrophil cytosolic factor 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncf4"
      },
      {
        "slug": "nhp2",
        "symbol": "NHP2",
        "hgnc": "HGNC:14377",
        "name": "NHP2 ribonucleoprotein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nhp2"
      },
      {
        "slug": "nop10",
        "symbol": "NOP10",
        "hgnc": "HGNC:14378",
        "name": "NOP10 ribonucleoprotein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nop10"
      },
      {
        "slug": "npm1",
        "symbol": "NPM1",
        "hgnc": "HGNC:7910",
        "name": "nucleophosmin 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/npm1"
      },
      {
        "slug": "parn",
        "symbol": "PARN",
        "hgnc": "HGNC:8609",
        "name": "poly(A)-specific ribonuclease",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/parn"
      },
      {
        "slug": "pten",
        "symbol": "PTEN",
        "hgnc": "HGNC:9588",
        "name": "phosphatase and tensin homolog",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pten"
      },
      {
        "slug": "rtel1",
        "symbol": "RTEL1",
        "hgnc": "HGNC:15888",
        "name": "regulator of telomere elongation helicase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rtel1"
      },
      {
        "slug": "stk11",
        "symbol": "STK11",
        "hgnc": "HGNC:11389",
        "name": "serine/threonine kinase 11",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stk11"
      },
      {
        "slug": "terc",
        "symbol": "TERC",
        "hgnc": "HGNC:11727",
        "name": "telomerase RNA component",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/terc"
      },
      {
        "slug": "tert",
        "symbol": "TERT",
        "hgnc": "HGNC:11730",
        "name": "telomerase reverse transcriptase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tert"
      },
      {
        "slug": "tinf2",
        "symbol": "TINF2",
        "hgnc": "HGNC:11824",
        "name": "TERF1 interacting nuclear factor 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tinf2"
      },
      {
        "slug": "tnfrsf1a",
        "symbol": "TNFRSF1A",
        "hgnc": "HGNC:11916",
        "name": "TNF receptor superfamily member 1A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnfrsf1a"
      },
      {
        "slug": "tyms",
        "symbol": "TYMS",
        "hgnc": "HGNC:12441",
        "name": "thymidylate synthetase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tyms"
      },
      {
        "slug": "usb1",
        "symbol": "USB1",
        "hgnc": "HGNC:25792",
        "name": "U6 snRNA biogenesis phosphodiesterase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/usb1"
      },
      {
        "slug": "wrap53",
        "symbol": "WRAP53",
        "hgnc": "HGNC:25522",
        "name": "WD repeat containing antisense to TP53",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wrap53"
      },
      {
        "slug": "ddb2",
        "symbol": "DDB2",
        "hgnc": "HGNC:2718",
        "name": "damage specific DNA binding protein 2",
        "frequency": "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": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc2"
      },
      {
        "slug": "ercc3",
        "symbol": "ERCC3",
        "hgnc": "HGNC:3435",
        "name": "ERCC excision repair 3, TFIIH core complex helicase subunit",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc3"
      },
      {
        "slug": "ercc4",
        "symbol": "ERCC4",
        "hgnc": "HGNC:3436",
        "name": "ERCC excision repair 4, endonuclease catalytic subunit",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc4"
      },
      {
        "slug": "ercc5",
        "symbol": "ERCC5",
        "hgnc": "HGNC:3437",
        "name": "ERCC excision repair 5, endonuclease",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc5"
      },
      {
        "slug": "kit",
        "symbol": "KIT",
        "hgnc": "HGNC:6342",
        "name": "KIT proto-oncogene, receptor tyrosine kinase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kit"
      },
      {
        "slug": "snai2",
        "symbol": "SNAI2",
        "hgnc": "HGNC:11094",
        "name": "snail family transcriptional repressor 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/snai2"
      },
      {
        "slug": "xpa",
        "symbol": "XPA",
        "hgnc": "HGNC:12814",
        "name": "XPA, DNA damage recognition and repair factor",
        "frequency": "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": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xpc"
      },
      {
        "slug": "atp2a2",
        "symbol": "ATP2A2",
        "hgnc": "HGNC:812",
        "name": "ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp2a2"
      },
      {
        "slug": "casz1",
        "symbol": "CASZ1",
        "hgnc": "HGNC:26002",
        "name": "castor zinc finger 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/casz1"
      },
      {
        "slug": "csta",
        "symbol": "CSTA",
        "hgnc": "HGNC:2481",
        "name": "cystatin A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/csta"
      },
      {
        "slug": "gabrd",
        "symbol": "GABRD",
        "hgnc": "HGNC:4084",
        "name": "gamma-aminobutyric acid type A receptor subunit delta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabrd"
      },
      {
        "slug": "gnas",
        "symbol": "GNAS",
        "hgnc": "HGNC:4392",
        "name": "GNAS complex locus",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnas"
      },
      {
        "slug": "hspg2",
        "symbol": "HSPG2",
        "hgnc": "HGNC:5273",
        "name": "heparan sulfate proteoglycan 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hspg2"
      },
      {
        "slug": "kcnab2",
        "symbol": "KCNAB2",
        "hgnc": "HGNC:6229",
        "name": "potassium voltage-gated channel subfamily A regulatory beta subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnab2"
      },
      {
        "slug": "luzp1",
        "symbol": "LUZP1",
        "hgnc": "HGNC:14985",
        "name": "leucine zipper protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/luzp1"
      },
      {
        "slug": "mmp23b",
        "symbol": "MMP23B",
        "hgnc": "HGNC:7171",
        "name": "matrix metallopeptidase 23B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp23b"
      },
      {
        "slug": "pdpn",
        "symbol": "PDPN",
        "hgnc": "HGNC:29602",
        "name": "podoplanin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdpn"
      },
      {
        "slug": "prdm16",
        "symbol": "PRDM16",
        "hgnc": "HGNC:14000",
        "name": "PR/SET domain 16",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prdm16"
      },
      {
        "slug": "prkcz",
        "symbol": "PRKCZ",
        "hgnc": "HGNC:9412",
        "name": "protein kinase C zeta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkcz"
      },
      {
        "slug": "rere",
        "symbol": "RERE",
        "hgnc": "HGNC:9965",
        "name": "arginine-glutamic acid dipeptide repeats",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rere"
      },
      {
        "slug": "ski",
        "symbol": "SKI",
        "hgnc": "HGNC:10896",
        "name": "SKI proto-oncogene",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ski"
      },
      {
        "slug": "spen",
        "symbol": "SPEN",
        "hgnc": "HGNC:17575",
        "name": "spen family transcriptional repressor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spen"
      },
      {
        "slug": "tgm5",
        "symbol": "TGM5",
        "hgnc": "HGNC:11781",
        "name": "transglutaminase 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgm5"
      },
      {
        "slug": "tsc1",
        "symbol": "TSC1",
        "hgnc": "HGNC:12362",
        "name": "TSC complex subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsc1"
      },
      {
        "slug": "tsc2",
        "symbol": "TSC2",
        "hgnc": "HGNC:12363",
        "name": "TSC complex subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsc2"
      },
      {
        "slug": "ube4b",
        "symbol": "UBE4B",
        "hgnc": "HGNC:12500",
        "name": "ubiquitination factor E4B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ube4b"
      },
      {
        "slug": "nf1",
        "symbol": "NF1",
        "hgnc": "HGNC:7765",
        "name": "neurofibromin 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nf1"
      }
    ]
  }
}