{
  "url": "https://dantelabs.com/traits/abnormal-skin-morphology",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "abnormal-skin-morphology",
    "id": "HP:0011121",
    "name": "Abnormal skin structure",
    "label": "Abnormal skin morphology",
    "definition": "Any morphological abnormality of the skin.",
    "synonyms": [
      "Abnormality of skin morphology"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "abnormality-of-the-skin",
        "name": "Abnormality of the skin",
        "url": "https://dantelabs.com/traits/abnormality-of-the-skin"
      }
    ],
    "narrower": [
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "genes": 214,
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "genes": 145,
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "abnormal-blistering-of-the-skin",
        "name": "Abnormal blistering of the skin",
        "genes": 109,
        "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin"
      },
      {
        "slug": "abnormal-skin-pigmentation",
        "name": "Abnormal skin pigmentation",
        "genes": 87,
        "url": "https://dantelabs.com/traits/abnormal-skin-pigmentation"
      },
      {
        "slug": "thickened-skin",
        "name": "Thickened skin",
        "genes": 73,
        "url": "https://dantelabs.com/traits/thickened-skin"
      },
      {
        "slug": "keratosis-pilaris",
        "name": "Chicken skin",
        "genes": 37,
        "url": "https://dantelabs.com/traits/keratosis-pilaris"
      },
      {
        "slug": "dermal-translucency",
        "name": "Dermal translucency",
        "genes": 33,
        "url": "https://dantelabs.com/traits/dermal-translucency"
      },
      {
        "slug": "poikiloderma",
        "name": "Poikiloderma",
        "genes": 25,
        "url": "https://dantelabs.com/traits/poikiloderma"
      },
      {
        "slug": "stiff-skin",
        "name": "Stiff skin",
        "genes": 18,
        "url": "https://dantelabs.com/traits/stiff-skin"
      },
      {
        "slug": "generalized-abnormality-of-skin",
        "name": "Generalized abnormality of skin",
        "genes": 17,
        "url": "https://dantelabs.com/traits/generalized-abnormality-of-skin"
      },
      {
        "slug": "lichenification",
        "name": "Lichenification",
        "genes": 12,
        "url": "https://dantelabs.com/traits/lichenification"
      },
      {
        "slug": "localized-skin-lesion",
        "name": "Localized skin lesion",
        "genes": 11,
        "url": "https://dantelabs.com/traits/localized-skin-lesion"
      },
      {
        "slug": "abnormal-epidermal-morphology",
        "name": "Abnormal epidermal morphology",
        "genes": 4,
        "url": "https://dantelabs.com/traits/abnormal-epidermal-morphology"
      },
      {
        "slug": "abnormal-dermoepidermal-junction-morphology",
        "name": "Abnormal dermoepidermal junction morphology",
        "genes": 2,
        "url": "https://dantelabs.com/traits/abnormal-dermoepidermal-junction-morphology"
      },
      {
        "slug": "regional-abnormality-of-skin",
        "name": "Regional abnormality of skin",
        "genes": 2,
        "url": "https://dantelabs.com/traits/regional-abnormality-of-skin"
      },
      {
        "slug": "tonofilament-clumping",
        "name": "Tonofilament clumping",
        "genes": 2,
        "url": "https://dantelabs.com/traits/tonofilament-clumping"
      },
      {
        "slug": "abnormal-cutaneous-elastic-fiber-morphology",
        "name": "Abnormal cutaneous elastic fiber morphology",
        "genes": 1,
        "url": "https://dantelabs.com/traits/abnormal-cutaneous-elastic-fiber-morphology"
      },
      {
        "slug": "abnormal-elasticity-of-skin",
        "name": "Abnormal elasticity of skin",
        "genes": 1,
        "url": "https://dantelabs.com/traits/abnormal-elasticity-of-skin"
      },
      {
        "slug": "maceration",
        "name": "Maceration",
        "genes": 1,
        "url": "https://dantelabs.com/traits/maceration"
      },
      {
        "slug": "ochronosis",
        "name": "Ochronosis",
        "genes": 1,
        "url": "https://dantelabs.com/traits/ochronosis"
      },
      {
        "slug": "abnormal-cutaneous-collagen-fibril-morphology",
        "name": "Abnormal cutaneous collagen fibril morphology",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-cutaneous-collagen-fibril-morphology"
      },
      {
        "slug": "abnormal-dermis-morphology",
        "name": "Abnormal dermis morphology",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-dermis-morphology"
      },
      {
        "slug": "abnormal-fetal-skin-morphology",
        "name": "Abnormal fetal skin morphology",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-fetal-skin-morphology"
      },
      {
        "slug": "cutaneous-wound",
        "name": "Skin wound",
        "genes": 0,
        "url": "https://dantelabs.com/traits/cutaneous-wound"
      }
    ],
    "genes": [
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "hgnc": "HGNC:23161",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg8"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "hgnc": "HGNC:18060",
        "name": "aristaless related homeobox",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arx"
      },
      {
        "slug": "btnl2",
        "symbol": "BTNL2",
        "hgnc": "HGNC:1142",
        "name": "butyrophilin like 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/btnl2"
      },
      {
        "slug": "cdkl5",
        "symbol": "CDKL5",
        "hgnc": "HGNC:11411",
        "name": "cyclin dependent kinase like 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdkl5"
      },
      {
        "slug": "cnpy3",
        "symbol": "CNPY3",
        "hgnc": "HGNC:11968",
        "name": "canopy FGF signaling regulator 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cnpy3"
      },
      {
        "slug": "cpox",
        "symbol": "CPOX",
        "hgnc": "HGNC:2321",
        "name": "coproporphyrinogen oxidase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cpox"
      },
      {
        "slug": "grin2b",
        "symbol": "GRIN2B",
        "hgnc": "HGNC:4586",
        "name": "glutamate ionotropic receptor NMDA type subunit 2B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grin2b"
      },
      {
        "slug": "guf1",
        "symbol": "GUF1",
        "hgnc": "HGNC:25799",
        "name": "GTP binding elongation factor GUF1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/guf1"
      },
      {
        "slug": "hla-drb1",
        "symbol": "HLA-DRB1",
        "hgnc": "HGNC:4948",
        "name": "major histocompatibility complex, class II, DR beta 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-drb1"
      },
      {
        "slug": "ntrk2",
        "symbol": "NTRK2",
        "hgnc": "HGNC:8032",
        "name": "neurotrophic receptor tyrosine kinase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ntrk2"
      },
      {
        "slug": "phactr1",
        "symbol": "PHACTR1",
        "hgnc": "HGNC:20990",
        "name": "phosphatase and actin regulator 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phactr1"
      },
      {
        "slug": "piga",
        "symbol": "PIGA",
        "hgnc": "HGNC:8957",
        "name": "phosphatidylinositol glycan anchor biosynthesis class A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/piga"
      },
      {
        "slug": "plcb1",
        "symbol": "PLCB1",
        "hgnc": "HGNC:15917",
        "name": "phospholipase C beta 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plcb1"
      },
      {
        "slug": "prf1",
        "symbol": "PRF1",
        "hgnc": "HGNC:9360",
        "name": "perforin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prf1"
      },
      {
        "slug": "scn2a",
        "symbol": "SCN2A",
        "hgnc": "HGNC:10588",
        "name": "sodium voltage-gated channel alpha subunit 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn2a"
      },
      {
        "slug": "sik1",
        "symbol": "SIK1",
        "hgnc": "HGNC:11142",
        "name": "salt inducible kinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sik1"
      },
      {
        "slug": "skic2",
        "symbol": "SKIC2",
        "hgnc": "HGNC:10898",
        "name": "SKI2 subunit of superkiller complex",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/skic2"
      },
      {
        "slug": "skic3",
        "symbol": "SKIC3",
        "hgnc": "HGNC:23639",
        "name": "SKI3 subunit of superkiller complex",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/skic3"
      },
      {
        "slug": "sptan1",
        "symbol": "SPTAN1",
        "hgnc": "HGNC:11273",
        "name": "spectrin alpha, non-erythrocytic 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptan1"
      },
      {
        "slug": "stx11",
        "symbol": "STX11",
        "hgnc": "HGNC:11429",
        "name": "syntaxin 11",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stx11"
      },
      {
        "slug": "stxbp2",
        "symbol": "STXBP2",
        "hgnc": "HGNC:11445",
        "name": "syntaxin binding protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stxbp2"
      },
      {
        "slug": "unc13d",
        "symbol": "UNC13D",
        "hgnc": "HGNC:23147",
        "name": "unc-13 homolog D",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc13d"
      },
      {
        "slug": "wdr45",
        "symbol": "WDR45",
        "hgnc": "HGNC:28912",
        "name": "WD repeat domain 45",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr45"
      },
      {
        "slug": "asxl1",
        "symbol": "ASXL1",
        "hgnc": "HGNC:18318",
        "name": "ASXL transcriptional regulator 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/asxl1"
      },
      {
        "slug": "cbl",
        "symbol": "CBL",
        "hgnc": "HGNC:1541",
        "name": "Cbl proto-oncogene",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cbl"
      },
      {
        "slug": "runx1",
        "symbol": "RUNX1",
        "hgnc": "HGNC:10471",
        "name": "RUNX family transcription factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/runx1"
      },
      {
        "slug": "srsf2",
        "symbol": "SRSF2",
        "hgnc": "HGNC:10783",
        "name": "serine and arginine rich splicing factor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/srsf2"
      },
      {
        "slug": "tet2",
        "symbol": "TET2",
        "hgnc": "HGNC:25941",
        "name": "tet methylcytosine dioxygenase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tet2"
      },
      {
        "slug": "hla-dpb1",
        "symbol": "HLA-DPB1",
        "hgnc": "HGNC:4940",
        "name": "major histocompatibility complex, class II, DP beta 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-dpb1"
      },
      {
        "slug": "alad",
        "symbol": "ALAD",
        "hgnc": "HGNC:395",
        "name": "aminolevulinate dehydratase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alad"
      },
      {
        "slug": "col7a1",
        "symbol": "COL7A1",
        "hgnc": "HGNC:2214",
        "name": "collagen type VII alpha 1 chain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col7a1"
      },
      {
        "slug": "hmbs",
        "symbol": "HMBS",
        "hgnc": "HGNC:4982",
        "name": "hydroxymethylbilane synthase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hmbs"
      }
    ]
  }
}