{
  "url": "https://dantelabs.com/traits/ecchymosis",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "ecchymosis",
    "id": "HP:0031364",
    "name": "Ecchymosis",
    "definition": "A purpuric lesion that is larger than 1 cm in diameter.",
    "synonyms": [
      "Ecchymoses"
    ],
    "systems": [
      {
        "slug": "abnormality-of-blood-and-blood-forming-tissues",
        "name": "Abnormality of blood and blood-forming tissues",
        "url": "https://dantelabs.com/traits/abnormality-of-blood-and-blood-forming-tissues"
      },
      {
        "slug": "abnormality-of-the-cardiovascular-system",
        "name": "Abnormality of the cardiovascular system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-cardiovascular-system"
      },
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "macular-purpura",
        "name": "Macular purpura",
        "url": "https://dantelabs.com/traits/macular-purpura"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "f13a1",
        "symbol": "F13A1",
        "hgnc": "HGNC:3531",
        "name": "coagulation factor XIII A chain",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/f13a1"
      },
      {
        "slug": "gp6",
        "symbol": "GP6",
        "hgnc": "HGNC:14388",
        "name": "glycoprotein VI platelet",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gp6"
      },
      {
        "slug": "hps1",
        "symbol": "HPS1",
        "hgnc": "HGNC:5163",
        "name": "HPS1 biogenesis of lysosomal organelles complex 3 subunit 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hps1"
      },
      {
        "slug": "hps6",
        "symbol": "HPS6",
        "hgnc": "HGNC:18817",
        "name": "HPS6 biogenesis of lysosomal organelles complex 2 subunit 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hps6"
      },
      {
        "slug": "itga2b",
        "symbol": "ITGA2B",
        "hgnc": "HGNC:6138",
        "name": "integrin subunit alpha 2b",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/itga2b"
      },
      {
        "slug": "plcg1",
        "symbol": "PLCG1",
        "hgnc": "HGNC:9065",
        "name": "phospholipase C gamma 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plcg1"
      },
      {
        "slug": "runx1",
        "symbol": "RUNX1",
        "hgnc": "HGNC:10471",
        "name": "RUNX family transcription factor 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/runx1"
      },
      {
        "slug": "tbxa2r",
        "symbol": "TBXA2R",
        "hgnc": "HGNC:11608",
        "name": "thromboxane A2 receptor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbxa2r"
      },
      {
        "slug": "was",
        "symbol": "WAS",
        "hgnc": "HGNC:12731",
        "name": "WASP actin nucleation promoting factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/was"
      },
      {
        "slug": "bcor",
        "symbol": "BCOR",
        "hgnc": "HGNC:20893",
        "name": "BCL6 corepressor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bcor"
      },
      {
        "slug": "fip1l1",
        "symbol": "FIP1L1",
        "hgnc": "HGNC:19124",
        "name": "factor interacting with PAPOLA and CPSF1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fip1l1"
      },
      {
        "slug": "irf2bp2",
        "symbol": "IRF2BP2",
        "hgnc": "HGNC:21729",
        "name": "interferon regulatory factor 2 binding protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/irf2bp2"
      },
      {
        "slug": "nabp1",
        "symbol": "NABP1",
        "hgnc": "HGNC:26232",
        "name": "nucleic acid binding protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nabp1"
      },
      {
        "slug": "npm1",
        "symbol": "NPM1",
        "hgnc": "HGNC:7910",
        "name": "nucleophosmin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/npm1"
      },
      {
        "slug": "numa1",
        "symbol": "NUMA1",
        "hgnc": "HGNC:8059",
        "name": "nuclear mitotic apparatus protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/numa1"
      },
      {
        "slug": "pml",
        "symbol": "PML",
        "hgnc": "HGNC:9113",
        "name": "PML nuclear body scaffold",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pml"
      },
      {
        "slug": "prf1",
        "symbol": "PRF1",
        "hgnc": "HGNC:9360",
        "name": "perforin 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/prf1"
      },
      {
        "slug": "prkar1a",
        "symbol": "PRKAR1A",
        "hgnc": "HGNC:9388",
        "name": "protein kinase cAMP-dependent type I regulatory subunit alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkar1a"
      },
      {
        "slug": "rara",
        "symbol": "RARA",
        "hgnc": "HGNC:9864",
        "name": "retinoic acid receptor alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rara"
      },
      {
        "slug": "stat3",
        "symbol": "STAT3",
        "hgnc": "HGNC:11364",
        "name": "signal transducer and activator of transcription 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stat3"
      },
      {
        "slug": "stat5b",
        "symbol": "STAT5B",
        "hgnc": "HGNC:11367",
        "name": "signal transducer and activator of transcription 5B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stat5b"
      },
      {
        "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": "tbl1xr1",
        "symbol": "TBL1XR1",
        "hgnc": "HGNC:29529",
        "name": "TBL1X/Y related 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbl1xr1"
      },
      {
        "slug": "unc13d",
        "symbol": "UNC13D",
        "hgnc": "HGNC:23147",
        "name": "unc-13 homolog D",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc13d"
      },
      {
        "slug": "zbtb16",
        "symbol": "ZBTB16",
        "hgnc": "HGNC:12930",
        "name": "zinc finger and BTB domain containing 16",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zbtb16"
      },
      {
        "slug": "atrx",
        "symbol": "ATRX",
        "hgnc": "HGNC:886",
        "name": "ATRX chromatin remodeler",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atrx"
      },
      {
        "slug": "braf",
        "symbol": "BRAF",
        "hgnc": "HGNC:1097",
        "name": "B-Raf proto-oncogene, serine/threonine kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/braf"
      },
      {
        "slug": "calr",
        "symbol": "CALR",
        "hgnc": "HGNC:1455",
        "name": "calreticulin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/calr"
      },
      {
        "slug": "cd109",
        "symbol": "CD109",
        "hgnc": "HGNC:21685",
        "name": "CD109 molecule",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cd109"
      },
      {
        "slug": "cdh23",
        "symbol": "CDH23",
        "hgnc": "HGNC:13733",
        "name": "cadherin related 23",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdh23"
      },
      {
        "slug": "col1a1",
        "symbol": "COL1A1",
        "hgnc": "HGNC:2197",
        "name": "collagen type I alpha 1 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col1a1"
      },
      {
        "slug": "col5a1",
        "symbol": "COL5A1",
        "hgnc": "HGNC:2209",
        "name": "collagen type V alpha 1 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col5a1"
      },
      {
        "slug": "col5a2",
        "symbol": "COL5A2",
        "hgnc": "HGNC:2210",
        "name": "collagen type V alpha 2 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col5a2"
      },
      {
        "slug": "f13b",
        "symbol": "F13B",
        "hgnc": "HGNC:3534",
        "name": "coagulation factor XIII B chain",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/f13b"
      },
      {
        "slug": "ggcx",
        "symbol": "GGCX",
        "hgnc": "HGNC:4247",
        "name": "gamma-glutamyl carboxylase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ggcx"
      },
      {
        "slug": "gimap5",
        "symbol": "GIMAP5",
        "hgnc": "HGNC:18005",
        "name": "GTPase, IMAP family member 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gimap5"
      },
      {
        "slug": "gp1ba",
        "symbol": "GP1BA",
        "hgnc": "HGNC:4439",
        "name": "glycoprotein Ib platelet subunit alpha",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gp1ba"
      },
      {
        "slug": "gp1bb",
        "symbol": "GP1BB",
        "hgnc": "HGNC:4440",
        "name": "glycoprotein Ib platelet subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gp1bb"
      },
      {
        "slug": "ifng",
        "symbol": "IFNG",
        "hgnc": "HGNC:5438",
        "name": "interferon gamma",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ifng"
      },
      {
        "slug": "itga2",
        "symbol": "ITGA2",
        "hgnc": "HGNC:6137",
        "name": "integrin subunit alpha 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itga2"
      },
      {
        "slug": "itgb3",
        "symbol": "ITGB3",
        "hgnc": "HGNC:6156",
        "name": "integrin subunit beta 3",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/itgb3"
      },
      {
        "slug": "jak2",
        "symbol": "JAK2",
        "hgnc": "HGNC:6192",
        "name": "Janus kinase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jak2"
      },
      {
        "slug": "mpl",
        "symbol": "MPL",
        "hgnc": "HGNC:7217",
        "name": "MPL proto-oncogene, thrombopoietin receptor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mpl"
      },
      {
        "slug": "nr3c1",
        "symbol": "NR3C1",
        "hgnc": "HGNC:7978",
        "name": "nuclear receptor subfamily 3 group C member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nr3c1"
      },
      {
        "slug": "sbds",
        "symbol": "SBDS",
        "hgnc": "HGNC:19440",
        "name": "SBDS ribosome maturation factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sbds"
      },
      {
        "slug": "terc",
        "symbol": "TERC",
        "hgnc": "HGNC:11727",
        "name": "telomerase RNA component",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/terc"
      },
      {
        "slug": "tert",
        "symbol": "TERT",
        "hgnc": "HGNC:11730",
        "name": "telomerase reverse transcriptase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tert"
      },
      {
        "slug": "tet2",
        "symbol": "TET2",
        "hgnc": "HGNC:25941",
        "name": "tet methylcytosine dioxygenase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tet2"
      },
      {
        "slug": "tp53",
        "symbol": "TP53",
        "hgnc": "HGNC:11998",
        "name": "tumor protein p53",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tp53"
      },
      {
        "slug": "usp48",
        "symbol": "USP48",
        "hgnc": "HGNC:18533",
        "name": "ubiquitin specific peptidase 48",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/usp48"
      },
      {
        "slug": "usp8",
        "symbol": "USP8",
        "hgnc": "HGNC:12631",
        "name": "ubiquitin specific peptidase 8",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/usp8"
      },
      {
        "slug": "vkorc1",
        "symbol": "VKORC1",
        "hgnc": "HGNC:23663",
        "name": "vitamin K epoxide reductase complex subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vkorc1"
      },
      {
        "slug": "gba1",
        "symbol": "GBA1",
        "hgnc": "HGNC:4177",
        "name": "glucosylceramidase beta 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gba1"
      },
      {
        "slug": "aip",
        "symbol": "AIP",
        "hgnc": "HGNC:358",
        "name": "AHR interacting HSP90 co-chaperone",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aip"
      },
      {
        "slug": "chst14",
        "symbol": "CHST14",
        "hgnc": "HGNC:24464",
        "name": "carbohydrate sulfotransferase 14",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chst14"
      },
      {
        "slug": "col3a1",
        "symbol": "COL3A1",
        "hgnc": "HGNC:2201",
        "name": "collagen type III alpha 1 chain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col3a1"
      },
      {
        "slug": "f2",
        "symbol": "F2",
        "hgnc": "HGNC:3535",
        "name": "coagulation factor II, thrombin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/f2"
      },
      {
        "slug": "gfi1b",
        "symbol": "GFI1B",
        "hgnc": "HGNC:4238",
        "name": "growth factor independent 1B transcriptional repressor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gfi1b"
      },
      {
        "slug": "p2ry12",
        "symbol": "P2RY12",
        "hgnc": "HGNC:18124",
        "name": "purinergic receptor P2Y12",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/p2ry12"
      }
    ]
  }
}