{
  "url": "https://dantelabs.com/traits/abnormal-aortic-arch-morphology",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "abnormal-aortic-arch-morphology",
    "id": "HP:0012303",
    "name": "Abnormal aortic arch morphology",
    "definition": "An anomaly of the arch of aorta.",
    "synonyms": [
      "Abnormality of the 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-morphology",
        "name": "Abnormal aortic morphology",
        "url": "https://dantelabs.com/traits/abnormal-aortic-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "interrupted-aortic-arch",
        "name": "Interrupted aortic arch",
        "genes": 22,
        "url": "https://dantelabs.com/traits/interrupted-aortic-arch"
      },
      {
        "slug": "hypoplastic-aortic-arch",
        "name": "Underdeveloped aortic arch",
        "genes": 15,
        "url": "https://dantelabs.com/traits/hypoplastic-aortic-arch"
      },
      {
        "slug": "abnormal-branching-pattern-of-the-aortic-arch",
        "name": "Abnormal branching pattern of the aortic arch",
        "genes": 1,
        "url": "https://dantelabs.com/traits/abnormal-branching-pattern-of-the-aortic-arch"
      },
      {
        "slug": "coarctation-of-the-descending-aortic-arch",
        "name": "Coarctation of the descending aortic arch",
        "genes": 1,
        "url": "https://dantelabs.com/traits/coarctation-of-the-descending-aortic-arch"
      },
      {
        "slug": "pseudocoarctation-of-the-aorta",
        "name": "Pseudocoarctation of the aorta",
        "genes": 1,
        "url": "https://dantelabs.com/traits/pseudocoarctation-of-the-aorta"
      }
    ],
    "genes": [
      {
        "slug": "arvcf",
        "symbol": "ARVCF",
        "hgnc": "HGNC:728",
        "name": "ARVCF delta catenin family member",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arvcf"
      },
      {
        "slug": "comt",
        "symbol": "COMT",
        "hgnc": "HGNC:2228",
        "name": "catechol-O-methyltransferase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/comt"
      },
      {
        "slug": "gp1bb",
        "symbol": "GP1BB",
        "hgnc": "HGNC:4440",
        "name": "glycoprotein Ib platelet subunit beta",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gp1bb"
      },
      {
        "slug": "hira",
        "symbol": "HIRA",
        "hgnc": "HGNC:4916",
        "name": "histone cell cycle regulator",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hira"
      },
      {
        "slug": "jmjd1c",
        "symbol": "JMJD1C",
        "hgnc": "HGNC:12313",
        "name": "jumonji domain containing 1C",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jmjd1c"
      },
      {
        "slug": "rreb1",
        "symbol": "RREB1",
        "hgnc": "HGNC:10449",
        "name": "ras responsive element binding protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rreb1"
      },
      {
        "slug": "sec24c",
        "symbol": "SEC24C",
        "hgnc": "HGNC:10705",
        "name": "SEC24 homolog C, COPII component",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sec24c"
      },
      {
        "slug": "tbx1",
        "symbol": "TBX1",
        "hgnc": "HGNC:11592",
        "name": "T-box transcription factor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx1"
      },
      {
        "slug": "ufd1",
        "symbol": "UFD1",
        "hgnc": "HGNC:12520",
        "name": "ubiquitin recognition factor in ER associated degradation 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ufd1"
      },
      {
        "slug": "mctp2",
        "symbol": "MCTP2",
        "hgnc": "HGNC:25636",
        "name": "multiple C2 and transmembrane domain containing 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mctp2"
      },
      {
        "slug": "dlk1",
        "symbol": "DLK1",
        "hgnc": "HGNC:2907",
        "name": "delta like non-canonical Notch ligand 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dlk1"
      },
      {
        "slug": "meg3",
        "symbol": "MEG3",
        "hgnc": "HGNC:14575",
        "name": "maternally expressed 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/meg3"
      },
      {
        "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": "rtl1",
        "symbol": "RTL1",
        "hgnc": "HGNC:14665",
        "name": "retrotransposon Gag like 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rtl1"
      }
    ]
  }
}