{
  "url": "https://dantelabs.com/traits/aortic-root-aneurysm",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "aortic-root-aneurysm",
    "id": "HP:0002616",
    "name": "Bulge in wall of root of large artery that carries blood away from heart",
    "label": "Aortic root aneurysm",
    "definition": "An abnormal localized widening (dilatation) of the aortic root.",
    "synonyms": [
      "Enlarged aortic root",
      "Increased aortic root diameter"
    ],
    "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": "thoracic-aortic-aneurysm",
        "name": "Thoracic aortic aneurysm",
        "url": "https://dantelabs.com/traits/thoracic-aortic-aneurysm"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "efemp2",
        "symbol": "EFEMP2",
        "hgnc": "HGNC:3219",
        "name": "EGF-like fibulin extracellular matrix protein 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/efemp2"
      },
      {
        "slug": "fbn1",
        "symbol": "FBN1",
        "hgnc": "HGNC:3603",
        "name": "fibrillin 1",
        "frequency": "obligate",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/fbn1"
      },
      {
        "slug": "klhl20",
        "symbol": "KLHL20",
        "hgnc": "HGNC:25056",
        "name": "kelch like family member 20",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/klhl20"
      },
      {
        "slug": "lox",
        "symbol": "LOX",
        "hgnc": "HGNC:6664",
        "name": "lysyl oxidase",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lox"
      },
      {
        "slug": "tgfb3",
        "symbol": "TGFB3",
        "hgnc": "HGNC:11769",
        "name": "transforming growth factor beta 3",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tgfb3"
      },
      {
        "slug": "bgn",
        "symbol": "BGN",
        "hgnc": "HGNC:1044",
        "name": "biglycan",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bgn"
      },
      {
        "slug": "ipo8",
        "symbol": "IPO8",
        "hgnc": "HGNC:9853",
        "name": "importin 8",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ipo8"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "robo4",
        "symbol": "ROBO4",
        "hgnc": "HGNC:17985",
        "name": "roundabout guidance receptor 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/robo4"
      },
      {
        "slug": "slc2a10",
        "symbol": "SLC2A10",
        "hgnc": "HGNC:13444",
        "name": "solute carrier family 2 member 10",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/slc2a10"
      },
      {
        "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": "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": "tgfbr2",
        "symbol": "TGFBR2",
        "hgnc": "HGNC:11773",
        "name": "transforming growth factor beta receptor 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tgfbr2"
      },
      {
        "slug": "abl1",
        "symbol": "ABL1",
        "hgnc": "HGNC:76",
        "name": "ABL proto-oncogene 1, non-receptor tyrosine kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abl1"
      },
      {
        "slug": "aldh1a2",
        "symbol": "ALDH1A2",
        "hgnc": "HGNC:15472",
        "name": "aldehyde dehydrogenase 1 family member A2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aldh1a2"
      },
      {
        "slug": "b3galt6",
        "symbol": "B3GALT6",
        "hgnc": "HGNC:17978",
        "name": "beta-1,3-galactosyltransferase 6",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/b3galt6"
      },
      {
        "slug": "col1a2",
        "symbol": "COL1A2",
        "hgnc": "HGNC:2198",
        "name": "collagen type I alpha 2 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col1a2"
      },
      {
        "slug": "col5a1",
        "symbol": "COL5A1",
        "hgnc": "HGNC:2209",
        "name": "collagen type V alpha 1 chain",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/col5a1"
      },
      {
        "slug": "emilin1",
        "symbol": "EMILIN1",
        "hgnc": "HGNC:19880",
        "name": "elastin microfibril interfacer 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/emilin1"
      },
      {
        "slug": "fbn2",
        "symbol": "FBN2",
        "hgnc": "HGNC:3604",
        "name": "fibrillin 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbn2"
      },
      {
        "slug": "hnrnpk",
        "symbol": "HNRNPK",
        "hgnc": "HGNC:5044",
        "name": "heterogeneous nuclear ribonucleoprotein K",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hnrnpk"
      },
      {
        "slug": "myh11",
        "symbol": "MYH11",
        "hgnc": "HGNC:7569",
        "name": "myosin heavy chain 11",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/myh11"
      },
      {
        "slug": "npr3",
        "symbol": "NPR3",
        "hgnc": "HGNC:7945",
        "name": "natriuretic peptide receptor 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/npr3"
      },
      {
        "slug": "rap1b",
        "symbol": "RAP1B",
        "hgnc": "HGNC:9857",
        "name": "RAP1B, member of RAS oncogene family",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rap1b"
      },
      {
        "slug": "specc1l",
        "symbol": "SPECC1L",
        "hgnc": "HGNC:29022",
        "name": "sperm antigen with calponin homology and coiled-coil domains 1 like",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/specc1l"
      },
      {
        "slug": "thsd4",
        "symbol": "THSD4",
        "hgnc": "HGNC:25835",
        "name": "thrombospondin type 1 domain containing 4",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/thsd4"
      },
      {
        "slug": "acta2",
        "symbol": "ACTA2",
        "hgnc": "HGNC:130",
        "name": "actin alpha 2, smooth muscle",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acta2"
      },
      {
        "slug": "aebp1",
        "symbol": "AEBP1",
        "hgnc": "HGNC:303",
        "name": "AE binding protein 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/aebp1"
      },
      {
        "slug": "aff4",
        "symbol": "AFF4",
        "hgnc": "HGNC:17869",
        "name": "ALF transcription elongation factor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aff4"
      },
      {
        "slug": "alg5",
        "symbol": "ALG5",
        "hgnc": "HGNC:20266",
        "name": "ALG5 dolichyl-phosphate beta-glucosyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg5"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "hgnc": "HGNC:15672",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg9"
      },
      {
        "slug": "angptl6",
        "symbol": "ANGPTL6",
        "hgnc": "HGNC:23140",
        "name": "angiopoietin like 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/angptl6"
      },
      {
        "slug": "atp2b1",
        "symbol": "ATP2B1",
        "hgnc": "HGNC:814",
        "name": "ATPase plasma membrane Ca2+ transporting 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp2b1"
      },
      {
        "slug": "atxn7l3",
        "symbol": "ATXN7L3",
        "hgnc": "HGNC:25416",
        "name": "ataxin 7 like 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atxn7l3"
      },
      {
        "slug": "bicc1",
        "symbol": "BICC1",
        "hgnc": "HGNC:19351",
        "name": "BicC family RNA binding protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bicc1"
      },
      {
        "slug": "cars1",
        "symbol": "CARS1",
        "hgnc": "HGNC:1493",
        "name": "cysteinyl-tRNA synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cars1"
      },
      {
        "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": "col3a1",
        "symbol": "COL3A1",
        "hgnc": "HGNC:2201",
        "name": "collagen type III alpha 1 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col3a1"
      },
      {
        "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": "dhrs3",
        "symbol": "DHRS3",
        "hgnc": "HGNC:17693",
        "name": "dehydrogenase/reductase 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhrs3"
      },
      {
        "slug": "dnajb11",
        "symbol": "DNAJB11",
        "hgnc": "HGNC:14889",
        "name": "DnaJ heat shock protein family (Hsp40) member B11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnajb11"
      },
      {
        "slug": "eln",
        "symbol": "ELN",
        "hgnc": "HGNC:3327",
        "name": "elastin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eln"
      },
      {
        "slug": "eng",
        "symbol": "ENG",
        "hgnc": "HGNC:3349",
        "name": "endoglin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eng"
      },
      {
        "slug": "foxe3",
        "symbol": "FOXE3",
        "hgnc": "HGNC:3808",
        "name": "forkhead box E3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxe3"
      },
      {
        "slug": "ganab",
        "symbol": "GANAB",
        "hgnc": "HGNC:4138",
        "name": "glucosidase II alpha subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ganab"
      },
      {
        "slug": "hey2",
        "symbol": "HEY2",
        "hgnc": "HGNC:4881",
        "name": "hes related family bHLH transcription factor with YRPW motif 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hey2"
      },
      {
        "slug": "ift140",
        "symbol": "IFT140",
        "hgnc": "HGNC:29077",
        "name": "intraflagellar transport 140",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift140"
      },
      {
        "slug": "kansl1",
        "symbol": "KANSL1",
        "hgnc": "HGNC:24565",
        "name": "KAT8 regulatory NSL complex subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kansl1"
      },
      {
        "slug": "mat2a",
        "symbol": "MAT2A",
        "hgnc": "HGNC:6904",
        "name": "methionine adenosyltransferase 2A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mat2a"
      },
      {
        "slug": "mfap5",
        "symbol": "MFAP5",
        "hgnc": "HGNC:29673",
        "name": "microfibril associated protein 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mfap5"
      },
      {
        "slug": "mid1",
        "symbol": "MID1",
        "hgnc": "HGNC:7095",
        "name": "midline 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mid1"
      },
      {
        "slug": "mylk",
        "symbol": "MYLK",
        "hgnc": "HGNC:7590",
        "name": "myosin light chain kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mylk"
      },
      {
        "slug": "mypn",
        "symbol": "MYPN",
        "hgnc": "HGNC:23246",
        "name": "myopalladin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mypn"
      },
      {
        "slug": "nek8",
        "symbol": "NEK8",
        "hgnc": "HGNC:13387",
        "name": "NIMA related kinase 8",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nek8"
      },
      {
        "slug": "nkap",
        "symbol": "NKAP",
        "hgnc": "HGNC:29873",
        "name": "NFKB activating protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nkap"
      },
      {
        "slug": "pan2",
        "symbol": "PAN2",
        "hgnc": "HGNC:20074",
        "name": "poly(A) specific ribonuclease subunit PAN2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pan2"
      },
      {
        "slug": "pgm3",
        "symbol": "PGM3",
        "hgnc": "HGNC:8907",
        "name": "phosphoglucomutase 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pgm3"
      },
      {
        "slug": "pign",
        "symbol": "PIGN",
        "hgnc": "HGNC:8967",
        "name": "phosphatidylinositol glycan anchor biosynthesis class N",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pign"
      },
      {
        "slug": "pkd1",
        "symbol": "PKD1",
        "hgnc": "HGNC:9008",
        "name": "polycystin 1, transient receptor potential channel interacting",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pkd1"
      },
      {
        "slug": "pkd2",
        "symbol": "PKD2",
        "hgnc": "HGNC:9009",
        "name": "polycystin 2, transient receptor potential cation channel",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pkd2"
      },
      {
        "slug": "ppp1cb",
        "symbol": "PPP1CB",
        "hgnc": "HGNC:9282",
        "name": "protein phosphatase 1 catalytic subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp1cb"
      },
      {
        "slug": "prkg1",
        "symbol": "PRKG1",
        "hgnc": "HGNC:9414",
        "name": "protein kinase cGMP-dependent 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkg1"
      },
      {
        "slug": "smad2",
        "symbol": "SMAD2",
        "hgnc": "HGNC:6768",
        "name": "SMAD family member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad2"
      },
      {
        "slug": "smad3",
        "symbol": "SMAD3",
        "hgnc": "HGNC:6769",
        "name": "SMAD family member 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad3"
      },
      {
        "slug": "smad4",
        "symbol": "SMAD4",
        "hgnc": "HGNC:6770",
        "name": "SMAD family member 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad4"
      },
      {
        "slug": "tgfbr3",
        "symbol": "TGFBR3",
        "hgnc": "HGNC:11774",
        "name": "transforming growth factor beta receptor 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgfbr3"
      },
      {
        "slug": "thsd1",
        "symbol": "THSD1",
        "hgnc": "HGNC:17754",
        "name": "thrombospondin type 1 domain containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/thsd1"
      },
      {
        "slug": "tpm2",
        "symbol": "TPM2",
        "hgnc": "HGNC:12011",
        "name": "tropomyosin 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpm2"
      },
      {
        "slug": "tpm3",
        "symbol": "TPM3",
        "hgnc": "HGNC:12012",
        "name": "tropomyosin 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpm3"
      },
      {
        "slug": "zfx",
        "symbol": "ZFX",
        "hgnc": "HGNC:12869",
        "name": "zinc finger protein X-linked",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zfx"
      },
      {
        "slug": "dnmt3a",
        "symbol": "DNMT3A",
        "hgnc": "HGNC:2978",
        "name": "DNA methyltransferase 3 alpha",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnmt3a"
      },
      {
        "slug": "ercc6",
        "symbol": "ERCC6",
        "hgnc": "HGNC:3438",
        "name": "ERCC excision repair 6, chromatin remodeling factor",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc6"
      },
      {
        "slug": "ercc8",
        "symbol": "ERCC8",
        "hgnc": "HGNC:3439",
        "name": "ERCC excision repair 8, CSA ubiquitin ligase complex subunit",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc8"
      },
      {
        "slug": "b3gat3",
        "symbol": "B3GAT3",
        "hgnc": "HGNC:923",
        "name": "beta-1,3-glucuronyltransferase 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b3gat3"
      },
      {
        "slug": "chst3",
        "symbol": "CHST3",
        "hgnc": "HGNC:1971",
        "name": "carbohydrate sulfotransferase 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chst3"
      },
      {
        "slug": "kcnh1",
        "symbol": "KCNH1",
        "hgnc": "HGNC:6250",
        "name": "potassium voltage-gated channel subfamily H member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnh1"
      }
    ]
  }
}