{
  "id": 14787,
  "label": "atrioventricular septal defect 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013769",
  "properties": {
    "xrefs": [
      "GARD:0024948",
      "MEDGEN:482569",
      "OMIM:614474",
      "UMLS:C3280939"
    ],
    "synonyms": [
      "GATA6 atrioventricular septal defect",
      "atrioventricular septal defect 5",
      "atrioventricular septal defect caused by mutation in GATA6",
      "atrioventricular septal defect type 5",
      "AVSD5"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19775,
      "label": "familial atrioventricular septal defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4221,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050651",
          "GARD:0000802",
          "ICD10CM:Q21.2",
          "ICD9:745.6",
          "ICD9:745.60",
          "ICD9:745.69",
          "NCIT:C101029",
          "NORD:821",
          "OMIMPS:606215",
          "Orphanet:98722",
          "SCTID:15459006"
        ],
        "synonyms": [
          "Atrioventricular Septal Defect",
          "AV septal defect",
          "AVCD",
          "AVSD",
          "ECD",
          "atrioventricular canal defect",
          "atrioventricular septal defect",
          "common AV canal",
          "common atrioventricular canal",
          "endocardial cushion defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves."
      },
      "child_count": 12,
      "reference_id": "MONDO:0020290"
    },
    {
      "id": 24265,
      "label": "GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7116,
        24272
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "GATA6 related congenital heart disease with or without pancreatic agenesis or neonatal diabetes"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A congenital heart disease that is present at birth. Representative examples include atrial septal defect 9, conotruncal heart malformations, tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, bicuspid aortic valve, transposition of the great arteries, persistent truncus arteriosus, congenital heart disease with pancreatic agenesis, and congenital heart disease with neonatal diabetes."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100540"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19775,
      "label": "familial atrioventricular septal defect"
    },
    {
      "id": 24265,
      "label": "GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes"
    }
  ]
}