{
  "url": "https://dantelabs.com/traits/thickened-skin",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "thickened-skin",
    "id": "HP:0001072",
    "name": "Thickened skin",
    "definition": "Laminar thickening of skin.",
    "synonyms": [
      "Diffusely thickened skin",
      "Thick skin",
      "Pachydermia"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-skin-morphology",
        "name": "Abnormal skin structure",
        "url": "https://dantelabs.com/traits/abnormal-skin-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "scleroderma",
        "name": "Scleroderma",
        "genes": 12,
        "url": "https://dantelabs.com/traits/scleroderma"
      },
      {
        "slug": "sclerodactyly",
        "name": "Sclerodactyly",
        "genes": 5,
        "url": "https://dantelabs.com/traits/sclerodactyly"
      },
      {
        "slug": "morphea",
        "name": "Morphea",
        "genes": 1,
        "url": "https://dantelabs.com/traits/morphea"
      },
      {
        "slug": "epidermal-thickening",
        "name": "Epidermal thickening",
        "genes": 0,
        "url": "https://dantelabs.com/traits/epidermal-thickening"
      }
    ],
    "genes": [
      {
        "slug": "ak2",
        "symbol": "AK2",
        "hgnc": "HGNC:362",
        "name": "adenylate kinase 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ak2"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "slco2a1",
        "symbol": "SLCO2A1",
        "hgnc": "HGNC:10955",
        "name": "solute carrier organic anion transporter family member 2A1",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/slco2a1"
      },
      {
        "slug": "aip",
        "symbol": "AIP",
        "hgnc": "HGNC:358",
        "name": "AHR interacting HSP90 co-chaperone",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aip"
      },
      {
        "slug": "akt1",
        "symbol": "AKT1",
        "hgnc": "HGNC:391",
        "name": "AKT serine/threonine kinase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/akt1"
      },
      {
        "slug": "antxr2",
        "symbol": "ANTXR2",
        "hgnc": "HGNC:21732",
        "name": "ANTXR cell adhesion molecule 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/antxr2"
      },
      {
        "slug": "arsb",
        "symbol": "ARSB",
        "hgnc": "HGNC:714",
        "name": "arylsulfatase B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arsb"
      },
      {
        "slug": "col1a1",
        "symbol": "COL1A1",
        "hgnc": "HGNC:2197",
        "name": "collagen type I alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col1a1"
      },
      {
        "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": "ecm1",
        "symbol": "ECM1",
        "hgnc": "HGNC:3153",
        "name": "extracellular matrix protein 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ecm1"
      },
      {
        "slug": "ercc2",
        "symbol": "ERCC2",
        "hgnc": "HGNC:3434",
        "name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
        "frequency": "very-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": "very-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": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc4"
      },
      {
        "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": "fbn1",
        "symbol": "FBN1",
        "hgnc": "HGNC:3603",
        "name": "fibrillin 1",
        "frequency": "very-frequent",
        "diseases": 6,
        "url": "https://dantelabs.com/genes/fbn1"
      },
      {
        "slug": "gnptab",
        "symbol": "GNPTAB",
        "hgnc": "HGNC:29670",
        "name": "N-acetylglucosamine-1-phosphate transferase subunits alpha and beta",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/gnptab"
      },
      {
        "slug": "gpr101",
        "symbol": "GPR101",
        "hgnc": "HGNC:14963",
        "name": "G protein-coupled receptor 101",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpr101"
      },
      {
        "slug": "hpgd",
        "symbol": "HPGD",
        "hgnc": "HGNC:5154",
        "name": "15-hydroxyprostaglandin dehydrogenase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hpgd"
      },
      {
        "slug": "mapre2",
        "symbol": "MAPRE2",
        "hgnc": "HGNC:6891",
        "name": "microtubule associated protein RP/EB family member 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mapre2"
      },
      {
        "slug": "mbtps2",
        "symbol": "MBTPS2",
        "hgnc": "HGNC:15455",
        "name": "membrane bound transcription factor peptidase, site 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mbtps2"
      },
      {
        "slug": "pdgfb",
        "symbol": "PDGFB",
        "hgnc": "HGNC:8800",
        "name": "platelet derived growth factor subunit B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfb"
      },
      {
        "slug": "perp",
        "symbol": "PERP",
        "hgnc": "HGNC:17637",
        "name": "p53 apoptosis effector related to PMP22",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/perp"
      },
      {
        "slug": "sh3pxd2b",
        "symbol": "SH3PXD2B",
        "hgnc": "HGNC:29242",
        "name": "SH3 and PX domains 2B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sh3pxd2b"
      },
      {
        "slug": "smad4",
        "symbol": "SMAD4",
        "hgnc": "HGNC:6770",
        "name": "SMAD family member 4",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/smad4"
      },
      {
        "slug": "tgm1",
        "symbol": "TGM1",
        "hgnc": "HGNC:11777",
        "name": "transglutaminase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgm1"
      },
      {
        "slug": "trpv3",
        "symbol": "TRPV3",
        "hgnc": "HGNC:18084",
        "name": "transient receptor potential cation channel subfamily V member 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trpv3"
      },
      {
        "slug": "tubb",
        "symbol": "TUBB",
        "hgnc": "HGNC:20778",
        "name": "tubulin beta class I",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubb"
      },
      {
        "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": 1,
        "url": "https://dantelabs.com/genes/xpc"
      },
      {
        "slug": "ada",
        "symbol": "ADA",
        "hgnc": "HGNC:186",
        "name": "adenosine deaminase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ada"
      },
      {
        "slug": "adamts10",
        "symbol": "ADAMTS10",
        "hgnc": "HGNC:13201",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 10",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/adamts10"
      },
      {
        "slug": "adamts17",
        "symbol": "ADAMTS17",
        "hgnc": "HGNC:17109",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 17",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adamts17"
      },
      {
        "slug": "adamtsl2",
        "symbol": "ADAMTSL2",
        "hgnc": "HGNC:14631",
        "name": "ADAMTS like 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/adamtsl2"
      },
      {
        "slug": "atp2a2",
        "symbol": "ATP2A2",
        "hgnc": "HGNC:812",
        "name": "ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp2a2"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "hgnc": "HGNC:869",
        "name": "ATPase copper transporting alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp7a"
      },
      {
        "slug": "card14",
        "symbol": "CARD14",
        "hgnc": "HGNC:16446",
        "name": "caspase recruitment domain family member 14",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/card14"
      },
      {
        "slug": "chd7",
        "symbol": "CHD7",
        "hgnc": "HGNC:20626",
        "name": "chromodomain helicase DNA binding protein 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chd7"
      },
      {
        "slug": "dclre1c",
        "symbol": "DCLRE1C",
        "hgnc": "HGNC:17642",
        "name": "DNA cross-link repair 1C",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dclre1c"
      },
      {
        "slug": "gata1",
        "symbol": "GATA1",
        "hgnc": "HGNC:4170",
        "name": "GATA binding protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gata1"
      },
      {
        "slug": "il2rg",
        "symbol": "IL2RG",
        "hgnc": "HGNC:6010",
        "name": "interleukin 2 receptor subunit gamma",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il2rg"
      },
      {
        "slug": "il7r",
        "symbol": "IL7R",
        "hgnc": "HGNC:6024",
        "name": "interleukin 7 receptor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il7r"
      },
      {
        "slug": "larp7",
        "symbol": "LARP7",
        "hgnc": "HGNC:24912",
        "name": "La ribonucleoprotein 7, transcriptional regulator",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/larp7"
      },
      {
        "slug": "ltbp2",
        "symbol": "LTBP2",
        "hgnc": "HGNC:6715",
        "name": "latent transforming growth factor beta binding protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ltbp2"
      },
      {
        "slug": "ltbp3",
        "symbol": "LTBP3",
        "hgnc": "HGNC:6716",
        "name": "latent transforming growth factor beta binding protein 3",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ltbp3"
      },
      {
        "slug": "nf1",
        "symbol": "NF1",
        "hgnc": "HGNC:7765",
        "name": "neurofibromin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nf1"
      },
      {
        "slug": "nudcd3",
        "symbol": "NUDCD3",
        "hgnc": "HGNC:22208",
        "name": "NudC domain containing 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nudcd3"
      },
      {
        "slug": "psmb10",
        "symbol": "PSMB10",
        "hgnc": "HGNC:9538",
        "name": "proteasome 20S subunit beta 10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/psmb10"
      },
      {
        "slug": "rag1",
        "symbol": "RAG1",
        "hgnc": "HGNC:9831",
        "name": "recombination activating 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rag1"
      },
      {
        "slug": "rag2",
        "symbol": "RAG2",
        "hgnc": "HGNC:9832",
        "name": "recombination activating 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rag2"
      },
      {
        "slug": "rmrp",
        "symbol": "RMRP",
        "hgnc": "HGNC:10031",
        "name": "RNA component of mitochondrial RNA processing endoribonuclease",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rmrp"
      },
      {
        "slug": "ryr1",
        "symbol": "RYR1",
        "hgnc": "HGNC:10483",
        "name": "ryanodine receptor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ryr1"
      },
      {
        "slug": "slc45a2",
        "symbol": "SLC45A2",
        "hgnc": "HGNC:16472",
        "name": "solute carrier family 45 member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc45a2"
      },
      {
        "slug": "smarcad1",
        "symbol": "SMARCAD1",
        "hgnc": "HGNC:18398",
        "name": "SNF2 related chromatin remodeling ATPase with DExD box 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smarcad1"
      },
      {
        "slug": "uros",
        "symbol": "UROS",
        "hgnc": "HGNC:12592",
        "name": "uroporphyrinogen III synthase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/uros"
      },
      {
        "slug": "vps33a",
        "symbol": "VPS33A",
        "hgnc": "HGNC:18179",
        "name": "VPS33A core subunit of CORVET and HOPS complexes",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/vps33a"
      },
      {
        "slug": "dpagt1",
        "symbol": "DPAGT1",
        "hgnc": "HGNC:2995",
        "name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dpagt1"
      },
      {
        "slug": "dpp9",
        "symbol": "DPP9",
        "hgnc": "HGNC:18648",
        "name": "dipeptidyl peptidase 9",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dpp9"
      },
      {
        "slug": "fbxo22",
        "symbol": "FBXO22",
        "hgnc": "HGNC:13593",
        "name": "F-box protein 22",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxo22"
      },
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "hgnc": "HGNC:4288",
        "name": "gap junction protein beta 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gjb6"
      },
      {
        "slug": "glb1",
        "symbol": "GLB1",
        "hgnc": "HGNC:4298",
        "name": "galactosidase beta 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/glb1"
      },
      {
        "slug": "insr",
        "symbol": "INSR",
        "hgnc": "HGNC:6091",
        "name": "insulin receptor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/insr"
      },
      {
        "slug": "kctd1",
        "symbol": "KCTD1",
        "hgnc": "HGNC:18249",
        "name": "potassium channel tetramerization domain containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kctd1"
      },
      {
        "slug": "kif11",
        "symbol": "KIF11",
        "hgnc": "HGNC:6388",
        "name": "kinesin family member 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif11"
      },
      {
        "slug": "kit",
        "symbol": "KIT",
        "hgnc": "HGNC:6342",
        "name": "KIT proto-oncogene, receptor tyrosine kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kit"
      },
      {
        "slug": "notch2",
        "symbol": "NOTCH2",
        "hgnc": "HGNC:7882",
        "name": "notch receptor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch2"
      },
      {
        "slug": "pdgfrb",
        "symbol": "PDGFRB",
        "hgnc": "HGNC:8804",
        "name": "platelet derived growth factor receptor beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfrb"
      },
      {
        "slug": "pi4ka",
        "symbol": "PI4KA",
        "hgnc": "HGNC:8983",
        "name": "phosphatidylinositol 4-kinase alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pi4ka"
      },
      {
        "slug": "ppox",
        "symbol": "PPOX",
        "hgnc": "HGNC:9280",
        "name": "protoporphyrinogen oxidase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppox"
      },
      {
        "slug": "ttc7a",
        "symbol": "TTC7A",
        "hgnc": "HGNC:19750",
        "name": "tetratricopeptide repeat domain 7A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ttc7a"
      },
      {
        "slug": "tyr",
        "symbol": "TYR",
        "hgnc": "HGNC:12442",
        "name": "tyrosinase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tyr"
      },
      {
        "slug": "urod",
        "symbol": "UROD",
        "hgnc": "HGNC:12591",
        "name": "uroporphyrinogen decarboxylase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/urod"
      },
      {
        "slug": "idua",
        "symbol": "IDUA",
        "hgnc": "HGNC:5391",
        "name": "alpha-L-iduronidase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/idua"
      },
      {
        "slug": "mmp2",
        "symbol": "MMP2",
        "hgnc": "HGNC:7166",
        "name": "matrix metallopeptidase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp2"
      }
    ]
  }
}