{
  "id": 16127,
  "label": "aortic arch defects",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015236",
  "properties": {
    "xrefs": [
      "GARD:0000741",
      "MEDGEN:1842770",
      "Orphanet:1132",
      "UMLS:C5680872"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of this system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 19777,
      "label": "congenital anomaly of the great arteries",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19327
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019556",
          "MEDGEN:798768",
          "MedDRA:10061080",
          "Orphanet:98724",
          "UMLS:C0948632"
        ],
        "synonyms": [
          "congenital aorta, aortic arch or pulmonary arteries anomaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 15,
      "reference_id": "MONDO:0020292"
    }
  ],
  "children": [
    {
      "id": 18167,
      "label": "Takayasu arteritis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16127,
        20028,
        23218
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2508",
          "EFO:1001857",
          "GARD:0007730",
          "ICD10CM:M31.4",
          "ICD9:446.7",
          "MEDGEN:21458",
          "MESH:D013625",
          "MedDRA:10043097",
          "NANDO:1200251",
          "NANDO:2200423",
          "NCIT:C34391",
          "NCIT:C35062",
          "NORD:806",
          "OMIM:207600",
          "Orphanet:3287",
          "Orphanet:99079",
          "SCTID:239937004",
          "UMLS:C0039263",
          "icd11.foundation:1327645131"
        ],
        "synonyms": [
          "Arteritis, Takayasu",
          "Takayasu arteritis",
          "Takayasu's arteritis",
          "Takayasu's disease",
          "aortic arch arteritis",
          "aortic arch syndrome",
          "cervical aortic arch",
          "idiopathic aortitis",
          "pharyngeal arch artery syndromic disease",
          "TA",
          "Takayasu disease",
          "Young female arteritis",
          "pulseless disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "A rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017991"
    },
    {
      "id": 19872,
      "label": "encircling double aortic arch",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16127
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019635",
          "MEDGEN:1641325",
          "NANDO:2200290",
          "Orphanet:99075",
          "SCTID:764521002",
          "UMLS:C4706940"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020413"
    },
    {
      "id": 19873,
      "label": "persistent fifth aortic arch",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16127
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019636",
          "MEDGEN:576728",
          "Orphanet:99076",
          "UMLS:C0345066",
          "icd11.foundation:82536098"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020414"
    },
    {
      "id": 19874,
      "label": "Kommerell diverticulum",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16127
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019637",
          "MEDGEN:488820",
          "Orphanet:99077",
          "SCTID:74561007",
          "UMLS:C0265885"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020415"
    },
    {
      "id": 19875,
      "label": "Neuhauser anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16127
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019638",
          "MEDGEN:1633982",
          "Orphanet:99078",
          "SCTID:766751007",
          "UMLS:C4707820"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020416"
    },
    {
      "id": 19876,
      "label": "right aortic arch",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16127
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019640",
          "HP:0012020",
          "ICD10CM:Q25.47",
          "MEDGEN:48474",
          "MedDRA:10067407",
          "NCIT:C103917",
          "Orphanet:99081",
          "SCTID:111321007",
          "UMLS:C0035615",
          "icd11.foundation:769265824"
        ],
        "synonyms": [
          "right aortic arch",
          "right aortic arch (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020417"
    },
    {
      "id": 19877,
      "label": "dysphagia lusoria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16127
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019641",
          "ICD9:787.29",
          "MEDGEN:540370",
          "Orphanet:99082",
          "SCTID:231719009",
          "UMLS:C0267073"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020418"
    }
  ],
  "roots": [
    {
      "id": 19777,
      "label": "congenital anomaly of the great arteries"
    }
  ]
}