{
  "id": 15860,
  "label": "patent ductus arteriosus 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014878",
  "properties": {
    "xrefs": [
      "GARD:0018489",
      "MEDGEN:924886",
      "OMIM:617035",
      "UMLS:C4284595"
    ],
    "synonyms": [
      "PDA2",
      "patent ductus arteriosus 2",
      "patent ductus arteriosus 2; PDA2",
      "patent ductus arteriosus type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12908,
      "label": "patent ductus arteriosus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7065,
        7116,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13832",
          "GARD:0024824",
          "ICD10CM:Q25.0",
          "ICD9:747.0",
          "MEDGEN:4415",
          "MESH:D004374",
          "NANDO:2100084",
          "NANDO:2200264",
          "NCIT:C84492",
          "OMIMPS:607411",
          "Orphanet:466729",
          "Orphanet:706",
          "SCTID:83330001",
          "UMLS:C0013274",
          "icd11.foundation:1262462321"
        ],
        "synonyms": [
          "PDA",
          "patent ductus arteriosus",
          "patent ductus botalli",
          "persistent patency of the arterial duct",
          "patency of the ductus arteriosus",
          "patent ductus arteriosus familial (type)"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure."
      },
      "child_count": 12,
      "reference_id": "MONDO:0011827"
    },
    {
      "id": 26520,
      "label": "TFAP2B-related congenital heart disease spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7116,
        24272
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "TFAP2B-related PDA and Char syndrome spectrum disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any congenital heart disease caused by pathogenic variation(s) in the TFAP2B gene, which encodes the transcription factor AP-2β. This disorder is characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies. Additional features include sensorineural hearing loss, scoliosis, dental anomalies, and central diabetes insipidus. Given the spectrum of symptoms associated with this condition, patients may exhibit a combination of these features. The underlying mechanism of the spectrum disorder is both dominant negative and loss-of-function. Pathogenic missense variants reported in Char syndrome patients appear to be dominant negative while loss-of-function alleles in PDA patients are likely to act through haploinsufficiency."
      },
      "child_count": 4,
      "reference_id": "MONDO:1010098"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12908,
      "label": "patent ductus arteriosus"
    },
    {
      "id": 26520,
      "label": "TFAP2B-related congenital heart disease spectrum disorder"
    }
  ]
}