{
  "url": "https://dantelabs.com/traits/arterial-tortuosity",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "arterial-tortuosity",
    "id": "HP:0005116",
    "name": "Arterial tortuosity",
    "definition": "Abnormal tortuous (i.e., twisted) form of arteries.",
    "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-systemic-arterial-morphology",
        "name": "Abnormal systemic arterial morphology",
        "url": "https://dantelabs.com/traits/abnormal-systemic-arterial-morphology"
      },
      {
        "slug": "vascular-tortuosity",
        "name": "Twisted blood vessels",
        "url": "https://dantelabs.com/traits/vascular-tortuosity"
      }
    ],
    "narrower": [
      {
        "slug": "tortuous-cerebral-arteries",
        "name": "Twisted cerebral arteries",
        "genes": 6,
        "url": "https://dantelabs.com/traits/tortuous-cerebral-arteries"
      },
      {
        "slug": "carotid-artery-tortuosity",
        "name": "Carotid artery tortuosity",
        "genes": 5,
        "url": "https://dantelabs.com/traits/carotid-artery-tortuosity"
      },
      {
        "slug": "generalized-arterial-tortuosity",
        "name": "Generalized twisted arteries",
        "genes": 3,
        "url": "https://dantelabs.com/traits/generalized-arterial-tortuosity"
      },
      {
        "slug": "vertebral-artery-tortuosity",
        "name": "Vertebral artery tortuosity",
        "genes": 3,
        "url": "https://dantelabs.com/traits/vertebral-artery-tortuosity"
      },
      {
        "slug": "retinal-arterial-tortuosity",
        "name": "Retinal arterial tortuosity",
        "genes": 2,
        "url": "https://dantelabs.com/traits/retinal-arterial-tortuosity"
      }
    ],
    "genes": [
      {
        "slug": "efemp2",
        "symbol": "EFEMP2",
        "hgnc": "HGNC:3219",
        "name": "EGF-like fibulin extracellular matrix protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/efemp2"
      },
      {
        "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": 2,
        "url": "https://dantelabs.com/genes/ipo8"
      },
      {
        "slug": "smad2",
        "symbol": "SMAD2",
        "hgnc": "HGNC:6768",
        "name": "SMAD family member 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/smad2"
      },
      {
        "slug": "tgfbr2",
        "symbol": "TGFBR2",
        "hgnc": "HGNC:11773",
        "name": "transforming growth factor beta receptor 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tgfbr2"
      },
      {
        "slug": "smad3",
        "symbol": "SMAD3",
        "hgnc": "HGNC:6769",
        "name": "SMAD family member 3",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/smad3"
      },
      {
        "slug": "tgfb2",
        "symbol": "TGFB2",
        "hgnc": "HGNC:11768",
        "name": "transforming growth factor beta 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tgfb2"
      },
      {
        "slug": "tgfb3",
        "symbol": "TGFB3",
        "hgnc": "HGNC:11769",
        "name": "transforming growth factor beta 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgfb3"
      },
      {
        "slug": "tgfbr1",
        "symbol": "TGFBR1",
        "hgnc": "HGNC:11772",
        "name": "transforming growth factor beta receptor 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tgfbr1"
      },
      {
        "slug": "nt5e",
        "symbol": "NT5E",
        "hgnc": "HGNC:8021",
        "name": "5'-nucleotidase ecto",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nt5e"
      }
    ]
  }
}