{
  "url": "https://dantelabs.com/traits/aortic-arch-aneurysm",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "aortic-arch-aneurysm",
    "id": "HP:0005113",
    "name": "Aortic arch aneurysm",
    "definition": "An abnormal localized widening (dilatation) of the aortic arch.",
    "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": "thoracic-aortic-aneurysm",
        "name": "Thoracic aortic aneurysm",
        "url": "https://dantelabs.com/traits/thoracic-aortic-aneurysm"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "thbs2",
        "symbol": "THBS2",
        "hgnc": "HGNC:11786",
        "name": "thrombospondin 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/thbs2"
      },
      {
        "slug": "acta2",
        "symbol": "ACTA2",
        "hgnc": "HGNC:130",
        "name": "actin alpha 2, smooth muscle",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acta2"
      },
      {
        "slug": "chd7",
        "symbol": "CHD7",
        "hgnc": "HGNC:20626",
        "name": "chromodomain helicase DNA binding protein 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chd7"
      },
      {
        "slug": "gata5",
        "symbol": "GATA5",
        "hgnc": "HGNC:15802",
        "name": "GATA binding protein 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gata5"
      },
      {
        "slug": "nkx2-5",
        "symbol": "NKX2-5",
        "hgnc": "HGNC:2488",
        "name": "NK2 homeobox 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nkx2-5"
      },
      {
        "slug": "notch1",
        "symbol": "NOTCH1",
        "hgnc": "HGNC:7881",
        "name": "notch receptor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch1"
      },
      {
        "slug": "robo4",
        "symbol": "ROBO4",
        "hgnc": "HGNC:17985",
        "name": "roundabout guidance receptor 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/robo4"
      },
      {
        "slug": "sema3e",
        "symbol": "SEMA3E",
        "hgnc": "HGNC:10727",
        "name": "semaphorin 3E",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sema3e"
      },
      {
        "slug": "smad6",
        "symbol": "SMAD6",
        "hgnc": "HGNC:6772",
        "name": "SMAD family member 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad6"
      },
      {
        "slug": "baz1b",
        "symbol": "BAZ1B",
        "hgnc": "HGNC:961",
        "name": "bromodomain adjacent to zinc finger domain 1B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/baz1b"
      },
      {
        "slug": "bud23",
        "symbol": "BUD23",
        "hgnc": "HGNC:16405",
        "name": "BUD23 rRNA methyltransferase and ribosome maturation factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bud23"
      },
      {
        "slug": "casz1",
        "symbol": "CASZ1",
        "hgnc": "HGNC:26002",
        "name": "castor zinc finger 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/casz1"
      },
      {
        "slug": "clip2",
        "symbol": "CLIP2",
        "hgnc": "HGNC:2586",
        "name": "CAP-Gly domain containing linker protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clip2"
      },
      {
        "slug": "dnajc30",
        "symbol": "DNAJC30",
        "hgnc": "HGNC:16410",
        "name": "DnaJ heat shock protein family (Hsp40) member C30",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnajc30"
      },
      {
        "slug": "eif4h",
        "symbol": "EIF4H",
        "hgnc": "HGNC:12741",
        "name": "eukaryotic translation initiation factor 4H",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eif4h"
      },
      {
        "slug": "eln",
        "symbol": "ELN",
        "hgnc": "HGNC:3327",
        "name": "elastin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eln"
      },
      {
        "slug": "fkbp6",
        "symbol": "FKBP6",
        "hgnc": "HGNC:3722",
        "name": "FKBP prolyl isomerase family member 6 (inactive)",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fkbp6"
      },
      {
        "slug": "gabrd",
        "symbol": "GABRD",
        "hgnc": "HGNC:4084",
        "name": "gamma-aminobutyric acid type A receptor subunit delta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabrd"
      },
      {
        "slug": "gtf2i",
        "symbol": "GTF2I",
        "hgnc": "HGNC:4659",
        "name": "general transcription factor IIi",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2i"
      },
      {
        "slug": "gtf2ird1",
        "symbol": "GTF2IRD1",
        "hgnc": "HGNC:4661",
        "name": "GTF2I repeat domain containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2ird1"
      },
      {
        "slug": "gtf2ird2",
        "symbol": "GTF2IRD2",
        "hgnc": "HGNC:30775",
        "name": "GTF2I repeat domain containing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2ird2"
      },
      {
        "slug": "hspg2",
        "symbol": "HSPG2",
        "hgnc": "HGNC:5273",
        "name": "heparan sulfate proteoglycan 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hspg2"
      },
      {
        "slug": "kcnab2",
        "symbol": "KCNAB2",
        "hgnc": "HGNC:6229",
        "name": "potassium voltage-gated channel subfamily A regulatory beta subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnab2"
      },
      {
        "slug": "limk1",
        "symbol": "LIMK1",
        "hgnc": "HGNC:6613",
        "name": "LIM domain kinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/limk1"
      },
      {
        "slug": "lox",
        "symbol": "LOX",
        "hgnc": "HGNC:6664",
        "name": "lysyl oxidase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lox"
      },
      {
        "slug": "luzp1",
        "symbol": "LUZP1",
        "hgnc": "HGNC:14985",
        "name": "leucine zipper protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/luzp1"
      },
      {
        "slug": "mettl27",
        "symbol": "METTL27",
        "hgnc": "HGNC:19068",
        "name": "methyltransferase like 27",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mettl27"
      },
      {
        "slug": "mmp23b",
        "symbol": "MMP23B",
        "hgnc": "HGNC:7171",
        "name": "matrix metallopeptidase 23B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp23b"
      },
      {
        "slug": "ncf1",
        "symbol": "NCF1",
        "hgnc": "HGNC:7660",
        "name": "neutrophil cytosolic factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncf1"
      },
      {
        "slug": "pdpn",
        "symbol": "PDPN",
        "hgnc": "HGNC:29602",
        "name": "podoplanin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdpn"
      },
      {
        "slug": "prdm16",
        "symbol": "PRDM16",
        "hgnc": "HGNC:14000",
        "name": "PR/SET domain 16",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prdm16"
      },
      {
        "slug": "prkcz",
        "symbol": "PRKCZ",
        "hgnc": "HGNC:9412",
        "name": "protein kinase C zeta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkcz"
      },
      {
        "slug": "rere",
        "symbol": "RERE",
        "hgnc": "HGNC:9965",
        "name": "arginine-glutamic acid dipeptide repeats",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rere"
      },
      {
        "slug": "rfc2",
        "symbol": "RFC2",
        "hgnc": "HGNC:9970",
        "name": "replication factor C subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfc2"
      },
      {
        "slug": "ski",
        "symbol": "SKI",
        "hgnc": "HGNC:10896",
        "name": "SKI proto-oncogene",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ski"
      },
      {
        "slug": "spen",
        "symbol": "SPEN",
        "hgnc": "HGNC:17575",
        "name": "spen family transcriptional repressor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spen"
      },
      {
        "slug": "stx1a",
        "symbol": "STX1A",
        "hgnc": "HGNC:11433",
        "name": "syntaxin 1A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stx1a"
      },
      {
        "slug": "tbl2",
        "symbol": "TBL2",
        "hgnc": "HGNC:11586",
        "name": "transducin beta like 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbl2"
      },
      {
        "slug": "tmem270",
        "symbol": "TMEM270",
        "hgnc": "HGNC:23018",
        "name": "transmembrane protein 270",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem270"
      },
      {
        "slug": "ube4b",
        "symbol": "UBE4B",
        "hgnc": "HGNC:12500",
        "name": "ubiquitination factor E4B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ube4b"
      },
      {
        "slug": "vps37d",
        "symbol": "VPS37D",
        "hgnc": "HGNC:18287",
        "name": "VPS37D subunit of ESCRT-I",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps37d"
      },
      {
        "slug": "tgfbr2",
        "symbol": "TGFBR2",
        "hgnc": "HGNC:11773",
        "name": "transforming growth factor beta receptor 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgfbr2"
      },
      {
        "slug": "kcnh1",
        "symbol": "KCNH1",
        "hgnc": "HGNC:6250",
        "name": "potassium voltage-gated channel subfamily H member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnh1"
      }
    ]
  }
}