{
  "url": "https://dantelabs.com/traits/aortic-tortuosity",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "aortic-tortuosity",
    "id": "HP:0006687",
    "name": "Aortic tortuosity",
    "definition": "Abnormal tortuous (i.e., twisted) form of the aorta.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-cardiovascular-system",
        "name": "Abnormality of the cardiovascular system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-cardiovascular-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-aortic-morphology",
        "name": "Abnormal aortic morphology",
        "url": "https://dantelabs.com/traits/abnormal-aortic-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "emilin1",
        "symbol": "EMILIN1",
        "hgnc": "HGNC:19880",
        "name": "elastin microfibril interfacer 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/emilin1"
      },
      {
        "slug": "ipo8",
        "symbol": "IPO8",
        "hgnc": "HGNC:9853",
        "name": "importin 8",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ipo8"
      },
      {
        "slug": "slc2a10",
        "symbol": "SLC2A10",
        "hgnc": "HGNC:13444",
        "name": "solute carrier family 2 member 10",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc2a10"
      },
      {
        "slug": "atp6v1a",
        "symbol": "ATP6V1A",
        "hgnc": "HGNC:851",
        "name": "ATPase H+ transporting V1 subunit A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v1a"
      },
      {
        "slug": "mfap5",
        "symbol": "MFAP5",
        "hgnc": "HGNC:29673",
        "name": "microfibril associated protein 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mfap5"
      },
      {
        "slug": "smad3",
        "symbol": "SMAD3",
        "hgnc": "HGNC:6769",
        "name": "SMAD family member 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad3"
      },
      {
        "slug": "tgfb2",
        "symbol": "TGFB2",
        "hgnc": "HGNC:11768",
        "name": "transforming growth factor beta 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgfb2"
      },
      {
        "slug": "smad6",
        "symbol": "SMAD6",
        "hgnc": "HGNC:6772",
        "name": "SMAD family member 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad6"
      }
    ]
  }
}