{
  "url": "https://dantelabs.com/traits/chilblains",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "chilblains",
    "id": "HP:0009710",
    "name": "Chilblains",
    "definition": "Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.",
    "synonyms": [
      "Chilblain lesions"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-immune-system",
        "name": "Abnormality of the immune system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-immune-system"
      },
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "inflammatory-abnormality-of-the-skin",
        "name": "Inflammatory abnormality of the skin",
        "url": "https://dantelabs.com/traits/inflammatory-abnormality-of-the-skin"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "atxn7l3",
        "symbol": "ATXN7L3",
        "hgnc": "HGNC:25416",
        "name": "ataxin 7 like 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atxn7l3"
      },
      {
        "slug": "c1qb",
        "symbol": "C1QB",
        "hgnc": "HGNC:1242",
        "name": "complement C1q B chain",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c1qb"
      },
      {
        "slug": "samhd1",
        "symbol": "SAMHD1",
        "hgnc": "HGNC:15925",
        "name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/samhd1"
      },
      {
        "slug": "trex1",
        "symbol": "TREX1",
        "hgnc": "HGNC:12269",
        "name": "three prime repair exonuclease 1",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/trex1"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "hgnc": "HGNC:225",
        "name": "adenosine deaminase RNA specific",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/adar"
      },
      {
        "slug": "dnase2",
        "symbol": "DNASE2",
        "hgnc": "HGNC:2960",
        "name": "deoxyribonuclease 2, lysosomal",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnase2"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "hgnc": "HGNC:18873",
        "name": "interferon induced with helicase C domain 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ifih1"
      },
      {
        "slug": "lsm11",
        "symbol": "LSM11",
        "hgnc": "HGNC:30860",
        "name": "LSM11, U7 small nuclear RNA associated",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lsm11"
      },
      {
        "slug": "rnaseh2a",
        "symbol": "RNASEH2A",
        "hgnc": "HGNC:18518",
        "name": "ribonuclease H2 subunit A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2a"
      },
      {
        "slug": "rnaseh2b",
        "symbol": "RNASEH2B",
        "hgnc": "HGNC:25671",
        "name": "ribonuclease H2 subunit B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2b"
      },
      {
        "slug": "rnaseh2c",
        "symbol": "RNASEH2C",
        "hgnc": "HGNC:24116",
        "name": "ribonuclease H2 subunit C",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rnaseh2c"
      },
      {
        "slug": "rnu7-1",
        "symbol": "RNU7-1",
        "hgnc": "HGNC:34033",
        "name": "RNA, U7 small nuclear 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rnu7-1"
      },
      {
        "slug": "ada2",
        "symbol": "ADA2",
        "hgnc": "HGNC:1839",
        "name": "adenosine deaminase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ada2"
      }
    ]
  }
}