{
  "url": "https://dantelabs.com/traits/interrupted-aortic-arch",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "interrupted-aortic-arch",
    "id": "HP:0011611",
    "name": "Interrupted aortic arch",
    "definition": "Non-continuity of the arch of aorta with an atretic point or absent segment.",
    "synonyms": [
      "Atretic transverse aortic arch"
    ],
    "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-arch-morphology",
        "name": "Abnormal aortic arch morphology",
        "url": "https://dantelabs.com/traits/abnormal-aortic-arch-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "interrupted-aortic-arch-type-b",
        "name": "Interrupted aortic arch type B",
        "genes": 1,
        "url": "https://dantelabs.com/traits/interrupted-aortic-arch-type-b"
      }
    ],
    "genes": [
      {
        "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": "myrf",
        "symbol": "MYRF",
        "hgnc": "HGNC:1181",
        "name": "myelin regulatory factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myrf"
      },
      {
        "slug": "sema3e",
        "symbol": "SEMA3E",
        "hgnc": "HGNC:10727",
        "name": "semaphorin 3E",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sema3e"
      },
      {
        "slug": "smg9",
        "symbol": "SMG9",
        "hgnc": "HGNC:25763",
        "name": "SMG9 nonsense mediated mRNA decay factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smg9"
      },
      {
        "slug": "dgcr2",
        "symbol": "DGCR2",
        "hgnc": "HGNC:2845",
        "name": "DiGeorge syndrome critical region gene 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dgcr2"
      },
      {
        "slug": "dgcr6",
        "symbol": "DGCR6",
        "hgnc": "HGNC:2846",
        "name": "DiGeorge syndrome critical region gene 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dgcr6"
      },
      {
        "slug": "dgcr8",
        "symbol": "DGCR8",
        "hgnc": "HGNC:2847",
        "name": "DGCR8 microprocessor complex subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dgcr8"
      },
      {
        "slug": "ess2",
        "symbol": "ESS2",
        "hgnc": "HGNC:16817",
        "name": "ess-2 spliceosome associated protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ess2"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "hgnc": "HGNC:3688",
        "name": "fibroblast growth factor receptor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr1"
      },
      {
        "slug": "fryl",
        "symbol": "FRYL",
        "hgnc": "HGNC:29127",
        "name": "FRY like transcription coactivator",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fryl"
      },
      {
        "slug": "gata6",
        "symbol": "GATA6",
        "hgnc": "HGNC:4174",
        "name": "GATA binding protein 6",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gata6"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "hgnc": "HGNC:6407",
        "name": "KRas proto-oncogene, GTPase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kras"
      },
      {
        "slug": "mycn",
        "symbol": "MYCN",
        "hgnc": "HGNC:7559",
        "name": "MYCN proto-oncogene, bHLH transcription factor",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mycn"
      },
      {
        "slug": "plxnd1",
        "symbol": "PLXND1",
        "hgnc": "HGNC:9107",
        "name": "plexin D1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plxnd1"
      },
      {
        "slug": "tbx1",
        "symbol": "TBX1",
        "hgnc": "HGNC:11592",
        "name": "T-box transcription factor 1",
        "frequency": "occasional",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/tbx1"
      },
      {
        "slug": "tmem260",
        "symbol": "TMEM260",
        "hgnc": "HGNC:20185",
        "name": "transmembrane protein 260",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem260"
      },
      {
        "slug": "foxf1",
        "symbol": "FOXF1",
        "hgnc": "HGNC:3809",
        "name": "forkhead box F1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxf1"
      },
      {
        "slug": "kdm6a",
        "symbol": "KDM6A",
        "hgnc": "HGNC:12637",
        "name": "lysine demethylase 6A",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm6a"
      },
      {
        "slug": "kmt2d",
        "symbol": "KMT2D",
        "hgnc": "HGNC:7133",
        "name": "lysine methyltransferase 2D",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kmt2d"
      },
      {
        "slug": "suclg1",
        "symbol": "SUCLG1",
        "hgnc": "HGNC:11449",
        "name": "succinate-CoA ligase GDP/ADP-forming subunit alpha",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/suclg1"
      },
      {
        "slug": "dis3l2",
        "symbol": "DIS3L2",
        "hgnc": "HGNC:28648",
        "name": "DIS3 like 3'-5' exoribonuclease 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dis3l2"
      },
      {
        "slug": "mmp21",
        "symbol": "MMP21",
        "hgnc": "HGNC:14357",
        "name": "matrix metallopeptidase 21",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp21"
      }
    ]
  }
}