{
  "url": "https://dantelabs.com/traits/abnormal-aortic-morphology",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "abnormal-aortic-morphology",
    "id": "HP:0001679",
    "name": "Abnormal aortic morphology",
    "definition": "An abnormality of the aorta.",
    "synonyms": [
      "Abnormal aorta morphology",
      "Abnormality of the 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-morphology-of-the-great-vessels",
        "name": "Abnormal morphology of the great vessels",
        "url": "https://dantelabs.com/traits/abnormal-morphology-of-the-great-vessels"
      },
      {
        "slug": "abnormal-systemic-arterial-morphology",
        "name": "Abnormal systemic arterial morphology",
        "url": "https://dantelabs.com/traits/abnormal-systemic-arterial-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "coarctation-of-aorta",
        "name": "Narrowing of aorta",
        "genes": 159,
        "url": "https://dantelabs.com/traits/coarctation-of-aorta"
      },
      {
        "slug": "aortic-aneurysm",
        "name": "Bulge in wall of large artery that carries blood away from heart",
        "genes": 66,
        "url": "https://dantelabs.com/traits/aortic-aneurysm"
      },
      {
        "slug": "aortic-dissection",
        "name": "Tear in inner wall of large artery that carries blood away from heart",
        "genes": 35,
        "url": "https://dantelabs.com/traits/aortic-dissection"
      },
      {
        "slug": "overriding-aorta",
        "name": "Overriding aorta",
        "genes": 27,
        "url": "https://dantelabs.com/traits/overriding-aorta"
      },
      {
        "slug": "calcification-of-the-aorta",
        "name": "Calcification of the aorta",
        "genes": 20,
        "url": "https://dantelabs.com/traits/calcification-of-the-aorta"
      },
      {
        "slug": "aortopulmonary-collateral-arteries",
        "name": "Aortopulmonary collateral arteries",
        "genes": 15,
        "url": "https://dantelabs.com/traits/aortopulmonary-collateral-arteries"
      },
      {
        "slug": "abnormal-aortic-arch-morphology",
        "name": "Abnormal aortic arch morphology",
        "genes": 14,
        "url": "https://dantelabs.com/traits/abnormal-aortic-arch-morphology"
      },
      {
        "slug": "aortic-atherosclerotic-lesion",
        "name": "Aortic atherosclerotic lesion",
        "genes": 9,
        "url": "https://dantelabs.com/traits/aortic-atherosclerotic-lesion"
      },
      {
        "slug": "aortic-tortuosity",
        "name": "Aortic tortuosity",
        "genes": 8,
        "url": "https://dantelabs.com/traits/aortic-tortuosity"
      },
      {
        "slug": "aortic-rupture",
        "name": "Aortic rupture",
        "genes": 2,
        "url": "https://dantelabs.com/traits/aortic-rupture"
      },
      {
        "slug": "abnormal-ascending-aorta-morphology",
        "name": "Abnormal ascending aorta morphology",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-ascending-aorta-morphology"
      },
      {
        "slug": "medial-degeneration",
        "name": "Medial degeneration",
        "genes": 0,
        "url": "https://dantelabs.com/traits/medial-degeneration"
      }
    ],
    "genes": [
      {
        "slug": "brca1",
        "symbol": "BRCA1",
        "hgnc": "HGNC:1100",
        "name": "BRCA1 DNA repair associated",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brca1"
      },
      {
        "slug": "brca2",
        "symbol": "BRCA2",
        "hgnc": "HGNC:1101",
        "name": "BRCA2 DNA repair associated",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brca2"
      },
      {
        "slug": "brip1",
        "symbol": "BRIP1",
        "hgnc": "HGNC:20473",
        "name": "BRCA1 interacting DNA helicase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brip1"
      },
      {
        "slug": "bub1",
        "symbol": "BUB1",
        "hgnc": "HGNC:1148",
        "name": "BUB1 mitotic checkpoint serine/threonine kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bub1"
      },
      {
        "slug": "bub1b",
        "symbol": "BUB1B",
        "hgnc": "HGNC:1149",
        "name": "BUB1 mitotic checkpoint serine/threonine kinase B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bub1b"
      },
      {
        "slug": "bub3",
        "symbol": "BUB3",
        "hgnc": "HGNC:1151",
        "name": "BUB3 mitotic checkpoint protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bub3"
      },
      {
        "slug": "cep57",
        "symbol": "CEP57",
        "hgnc": "HGNC:30794",
        "name": "centrosomal protein 57",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep57"
      },
      {
        "slug": "ercc4",
        "symbol": "ERCC4",
        "hgnc": "HGNC:3436",
        "name": "ERCC excision repair 4, endonuclease catalytic subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc4"
      },
      {
        "slug": "faap100",
        "symbol": "FAAP100",
        "hgnc": "HGNC:26171",
        "name": "FA core complex associated protein 100",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/faap100"
      },
      {
        "slug": "fanca",
        "symbol": "FANCA",
        "hgnc": "HGNC:3582",
        "name": "FA complementation group A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fanca"
      },
      {
        "slug": "fancb",
        "symbol": "FANCB",
        "hgnc": "HGNC:3583",
        "name": "FA complementation group B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancb"
      },
      {
        "slug": "fancc",
        "symbol": "FANCC",
        "hgnc": "HGNC:3584",
        "name": "FA complementation group C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancc"
      },
      {
        "slug": "fancd2",
        "symbol": "FANCD2",
        "hgnc": "HGNC:3585",
        "name": "FA complementation group D2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancd2"
      },
      {
        "slug": "fance",
        "symbol": "FANCE",
        "hgnc": "HGNC:3586",
        "name": "FA complementation group E",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fance"
      },
      {
        "slug": "fancf",
        "symbol": "FANCF",
        "hgnc": "HGNC:3587",
        "name": "FA complementation group F",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancf"
      },
      {
        "slug": "fancg",
        "symbol": "FANCG",
        "hgnc": "HGNC:3588",
        "name": "FA complementation group G",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancg"
      },
      {
        "slug": "fanci",
        "symbol": "FANCI",
        "hgnc": "HGNC:25568",
        "name": "FA complementation group I",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fanci"
      },
      {
        "slug": "fancl",
        "symbol": "FANCL",
        "hgnc": "HGNC:20748",
        "name": "FA complementation group L",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancl"
      },
      {
        "slug": "fancm",
        "symbol": "FANCM",
        "hgnc": "HGNC:23168",
        "name": "FA complementation group M",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancm"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "hgnc": "HGNC:3688",
        "name": "fibroblast growth factor receptor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr1"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "hgnc": "HGNC:4173",
        "name": "GATA binding protein 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gata4"
      },
      {
        "slug": "hdac4",
        "symbol": "HDAC4",
        "hgnc": "HGNC:14063",
        "name": "histone deacetylase 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hdac4"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "hgnc": "HGNC:6407",
        "name": "KRas proto-oncogene, GTPase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kras"
      },
      {
        "slug": "mad2l2",
        "symbol": "MAD2L2",
        "hgnc": "HGNC:6764",
        "name": "mitotic arrest deficient 2 like 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mad2l2"
      },
      {
        "slug": "nxn",
        "symbol": "NXN",
        "hgnc": "HGNC:18008",
        "name": "nucleoredoxin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nxn"
      },
      {
        "slug": "palb2",
        "symbol": "PALB2",
        "hgnc": "HGNC:26144",
        "name": "partner and localizer of BRCA2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/palb2"
      },
      {
        "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": "rad51",
        "symbol": "RAD51",
        "hgnc": "HGNC:9817",
        "name": "RAD51 recombinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51"
      },
      {
        "slug": "rad51c",
        "symbol": "RAD51C",
        "hgnc": "HGNC:9820",
        "name": "RAD51 paralog C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51c"
      },
      {
        "slug": "rfwd3",
        "symbol": "RFWD3",
        "hgnc": "HGNC:25539",
        "name": "ring finger and WD repeat domain 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfwd3"
      },
      {
        "slug": "ror2",
        "symbol": "ROR2",
        "hgnc": "HGNC:10257",
        "name": "ROR family WNT receptor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ror2"
      },
      {
        "slug": "slx4",
        "symbol": "SLX4",
        "hgnc": "HGNC:23845",
        "name": "SLX4 structure-specific endonuclease subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slx4"
      },
      {
        "slug": "tbx5",
        "symbol": "TBX5",
        "hgnc": "HGNC:11604",
        "name": "T-box transcription factor 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx5"
      },
      {
        "slug": "trip13",
        "symbol": "TRIP13",
        "hgnc": "HGNC:12307",
        "name": "thyroid hormone receptor interactor 13",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trip13"
      },
      {
        "slug": "ube2t",
        "symbol": "UBE2T",
        "hgnc": "HGNC:25009",
        "name": "ubiquitin conjugating enzyme E2 T",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ube2t"
      },
      {
        "slug": "xrcc2",
        "symbol": "XRCC2",
        "hgnc": "HGNC:12829",
        "name": "X-ray repair cross complementing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xrcc2"
      }
    ]
  }
}