{
  "url": "https://dantelabs.com/traits/aortic-aneurysm",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "aortic-aneurysm",
    "id": "HP:0004942",
    "name": "Bulge in wall of large artery that carries blood away from heart",
    "label": "Aortic aneurysm",
    "definition": "Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.",
    "synonyms": [
      "Enlarged aorta"
    ],
    "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"
      },
      {
        "slug": "vascular-dilatation",
        "name": "Aneurysm",
        "url": "https://dantelabs.com/traits/vascular-dilatation"
      }
    ],
    "narrower": [
      {
        "slug": "abdominal-aortic-aneurysm",
        "name": "Abdominal aortic aneurysm",
        "genes": 25,
        "url": "https://dantelabs.com/traits/abdominal-aortic-aneurysm"
      },
      {
        "slug": "thoracic-aortic-aneurysm",
        "name": "Thoracic aortic aneurysm",
        "genes": 9,
        "url": "https://dantelabs.com/traits/thoracic-aortic-aneurysm"
      }
    ],
    "genes": [
      {
        "slug": "fbn1",
        "symbol": "FBN1",
        "hgnc": "HGNC:3603",
        "name": "fibrillin 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbn1"
      },
      {
        "slug": "polr1a",
        "symbol": "POLR1A",
        "hgnc": "HGNC:17264",
        "name": "RNA polymerase I subunit A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr1a"
      },
      {
        "slug": "taf4",
        "symbol": "TAF4",
        "hgnc": "HGNC:11537",
        "name": "TATA-box binding protein associated factor 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/taf4"
      },
      {
        "slug": "tnnt2",
        "symbol": "TNNT2",
        "hgnc": "HGNC:11949",
        "name": "troponin T2, cardiac type",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnnt2"
      },
      {
        "slug": "ipo8",
        "symbol": "IPO8",
        "hgnc": "HGNC:9853",
        "name": "importin 8",
        "frequency": "very-frequent",
        "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": "smad2",
        "symbol": "SMAD2",
        "hgnc": "HGNC:6768",
        "name": "SMAD family member 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad2"
      },
      {
        "slug": "smad3",
        "symbol": "SMAD3",
        "hgnc": "HGNC:6769",
        "name": "SMAD family member 3",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/smad3"
      },
      {
        "slug": "tgfb2",
        "symbol": "TGFB2",
        "hgnc": "HGNC:11768",
        "name": "transforming growth factor beta 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "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": 1,
        "url": "https://dantelabs.com/genes/tgfbr1"
      },
      {
        "slug": "tgfbr2",
        "symbol": "TGFBR2",
        "hgnc": "HGNC:11773",
        "name": "transforming growth factor beta receptor 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgfbr2"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "hgnc": "HGNC:9722",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aldh18a1"
      },
      {
        "slug": "dph5",
        "symbol": "DPH5",
        "hgnc": "HGNC:24270",
        "name": "diphthamide biosynthesis 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dph5"
      },
      {
        "slug": "eln",
        "symbol": "ELN",
        "hgnc": "HGNC:3327",
        "name": "elastin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eln"
      },
      {
        "slug": "fbln5",
        "symbol": "FBLN5",
        "hgnc": "HGNC:3602",
        "name": "fibulin 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbln5"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "rin2",
        "symbol": "RIN2",
        "hgnc": "HGNC:18750",
        "name": "Ras and Rab interactor 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rin2"
      },
      {
        "slug": "slc25a24",
        "symbol": "SLC25A24",
        "hgnc": "HGNC:20662",
        "name": "solute carrier family 25 member 24",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc25a24"
      },
      {
        "slug": "tab2",
        "symbol": "TAB2",
        "hgnc": "HGNC:17075",
        "name": "TGF-beta activated kinase 1 (MAP3K7) binding protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tab2"
      },
      {
        "slug": "apc2",
        "symbol": "APC2",
        "hgnc": "HGNC:24036",
        "name": "APC regulator of Wnt signaling pathway 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/apc2"
      },
      {
        "slug": "arf1",
        "symbol": "ARF1",
        "hgnc": "HGNC:652",
        "name": "ARF GTPase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arf1"
      },
      {
        "slug": "arfgef2",
        "symbol": "ARFGEF2",
        "hgnc": "HGNC:15853",
        "name": "ARF guanine nucleotide exchange factor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arfgef2"
      },
      {
        "slug": "bcr",
        "symbol": "BCR",
        "hgnc": "HGNC:1014",
        "name": "BCR activator of RhoGEF and GTPase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bcr"
      },
      {
        "slug": "chrng",
        "symbol": "CHRNG",
        "hgnc": "HGNC:1967",
        "name": "cholinergic receptor nicotinic gamma subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chrng"
      },
      {
        "slug": "col3a1",
        "symbol": "COL3A1",
        "hgnc": "HGNC:2201",
        "name": "collagen type III alpha 1 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col3a1"
      },
      {
        "slug": "crkl",
        "symbol": "CRKL",
        "hgnc": "HGNC:2363",
        "name": "CRK like proto-oncogene, adaptor protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crkl"
      },
      {
        "slug": "ermard",
        "symbol": "ERMARD",
        "hgnc": "HGNC:21056",
        "name": "ER membrane associated RNA degradation",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ermard"
      },
      {
        "slug": "fbn2",
        "symbol": "FBN2",
        "hgnc": "HGNC:3604",
        "name": "fibrillin 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbn2"
      },
      {
        "slug": "fbxo11",
        "symbol": "FBXO11",
        "hgnc": "HGNC:13590",
        "name": "F-box protein 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxo11"
      },
      {
        "slug": "flna",
        "symbol": "FLNA",
        "hgnc": "HGNC:3754",
        "name": "filamin A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flna"
      },
      {
        "slug": "hgd",
        "symbol": "HGD",
        "hgnc": "HGNC:4892",
        "name": "homogentisate 1,2-dioxygenase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hgd"
      },
      {
        "slug": "hnrnpk",
        "symbol": "HNRNPK",
        "hgnc": "HGNC:5044",
        "name": "heterogeneous nuclear ribonucleoprotein K",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hnrnpk"
      },
      {
        "slug": "map1b",
        "symbol": "MAP1B",
        "hgnc": "HGNC:6836",
        "name": "microtubule associated protein 1B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/map1b"
      },
      {
        "slug": "mapk1",
        "symbol": "MAPK1",
        "hgnc": "HGNC:6871",
        "name": "mitogen-activated protein kinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mapk1"
      },
      {
        "slug": "med12",
        "symbol": "MED12",
        "hgnc": "HGNC:11957",
        "name": "mediator complex subunit 12",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/med12"
      },
      {
        "slug": "myh3",
        "symbol": "MYH3",
        "hgnc": "HGNC:7573",
        "name": "myosin heavy chain 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myh3"
      },
      {
        "slug": "nedd4l",
        "symbol": "NEDD4L",
        "hgnc": "HGNC:7728",
        "name": "NEDD4 like E3 ubiquitin protein ligase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nedd4l"
      },
      {
        "slug": "nod2",
        "symbol": "NOD2",
        "hgnc": "HGNC:5331",
        "name": "nucleotide binding oligomerization domain containing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nod2"
      },
      {
        "slug": "nsd1",
        "symbol": "NSD1",
        "hgnc": "HGNC:14234",
        "name": "nuclear receptor binding SET domain protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsd1"
      },
      {
        "slug": "plod1",
        "symbol": "PLOD1",
        "hgnc": "HGNC:9081",
        "name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plod1"
      },
      {
        "slug": "pten",
        "symbol": "PTEN",
        "hgnc": "HGNC:9588",
        "name": "phosphatase and tensin homolog",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pten"
      },
      {
        "slug": "rai1",
        "symbol": "RAI1",
        "hgnc": "HGNC:9834",
        "name": "retinoic acid induced 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rai1"
      },
      {
        "slug": "ski",
        "symbol": "SKI",
        "hgnc": "HGNC:10896",
        "name": "SKI proto-oncogene",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ski"
      },
      {
        "slug": "smad6",
        "symbol": "SMAD6",
        "hgnc": "HGNC:6772",
        "name": "SMAD family member 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad6"
      },
      {
        "slug": "tmtc3",
        "symbol": "TMTC3",
        "hgnc": "HGNC:26899",
        "name": "transmembrane O-mannosyltransferase targeting cadherins 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmtc3"
      },
      {
        "slug": "tnxb",
        "symbol": "TNXB",
        "hgnc": "HGNC:11976",
        "name": "tenascin XB",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnxb"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "hgnc": "HGNC:225",
        "name": "adenosine deaminase RNA specific",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adar"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "hgnc": "HGNC:18873",
        "name": "interferon induced with helicase C domain 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ifih1"
      },
      {
        "slug": "ifng",
        "symbol": "IFNG",
        "hgnc": "HGNC:5438",
        "name": "interferon gamma",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ifng"
      },
      {
        "slug": "lsm11",
        "symbol": "LSM11",
        "hgnc": "HGNC:30860",
        "name": "LSM11, U7 small nuclear RNA associated",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lsm11"
      },
      {
        "slug": "rnaseh2a",
        "symbol": "RNASEH2A",
        "hgnc": "HGNC:18518",
        "name": "ribonuclease H2 subunit A",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2a"
      },
      {
        "slug": "rnaseh2b",
        "symbol": "RNASEH2B",
        "hgnc": "HGNC:25671",
        "name": "ribonuclease H2 subunit B",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2b"
      },
      {
        "slug": "rnaseh2c",
        "symbol": "RNASEH2C",
        "hgnc": "HGNC:24116",
        "name": "ribonuclease H2 subunit C",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2c"
      },
      {
        "slug": "rnu7-1",
        "symbol": "RNU7-1",
        "hgnc": "HGNC:34033",
        "name": "RNA, U7 small nuclear 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu7-1"
      },
      {
        "slug": "samhd1",
        "symbol": "SAMHD1",
        "hgnc": "HGNC:15925",
        "name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/samhd1"
      },
      {
        "slug": "sptbn1",
        "symbol": "SPTBN1",
        "hgnc": "HGNC:11275",
        "name": "spectrin beta, non-erythrocytic 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptbn1"
      },
      {
        "slug": "trex1",
        "symbol": "TREX1",
        "hgnc": "HGNC:12269",
        "name": "three prime repair exonuclease 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trex1"
      },
      {
        "slug": "tsc1",
        "symbol": "TSC1",
        "hgnc": "HGNC:12362",
        "name": "TSC complex subunit 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsc1"
      },
      {
        "slug": "tsc2",
        "symbol": "TSC2",
        "hgnc": "HGNC:12363",
        "name": "TSC complex subunit 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsc2"
      },
      {
        "slug": "acta2",
        "symbol": "ACTA2",
        "hgnc": "HGNC:130",
        "name": "actin alpha 2, smooth muscle",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acta2"
      },
      {
        "slug": "c12orf57",
        "symbol": "C12orf57",
        "hgnc": "HGNC:29521",
        "name": "chromosome 12 open reading frame 57",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c12orf57"
      },
      {
        "slug": "col1a1",
        "symbol": "COL1A1",
        "hgnc": "HGNC:2197",
        "name": "collagen type I alpha 1 chain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col1a1"
      },
      {
        "slug": "flnb",
        "symbol": "FLNB",
        "hgnc": "HGNC:3755",
        "name": "filamin B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flnb"
      },
      {
        "slug": "foxe3",
        "symbol": "FOXE3",
        "hgnc": "HGNC:3808",
        "name": "forkhead box E3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxe3"
      },
      {
        "slug": "mylk",
        "symbol": "MYLK",
        "hgnc": "HGNC:7590",
        "name": "myosin light chain kinase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mylk"
      }
    ]
  }
}