{
  "id": 19775,
  "label": "familial atrioventricular septal defect",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020290",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 4221,
      "label": "heart septal defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7116
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1681",
          "ICD9:745.8",
          "ICD9:745.9",
          "MEDGEN:6752",
          "MESH:D006343",
          "NCIT:C84482",
          "SCTID:253273004",
          "UMLS:C0018816"
        ],
        "synonyms": [
          "Cardiac septal defects",
          "congenital septal defect",
          "holes in the heart"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum."
      },
      "child_count": 3,
      "reference_id": "MONDO:0002078"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    }
  ],
  "children": [
    {
      "id": 14765,
      "label": "atrioventricular septal defect 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19775,
        23767
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024944",
          "MEDGEN:482411",
          "OMIM:614430",
          "UMLS:C3280781"
        ],
        "synonyms": [
          "GATA4 atrioventricular septal defect",
          "atrioventricular septal defect 4",
          "atrioventricular septal defect caused by mutation in GATA4",
          "atrioventricular septal defect type 4",
          "AVSD4"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013747"
    },
    {
      "id": 14787,
      "label": "atrioventricular septal defect 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19775,
        24265
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013769"
    },
    {
      "id": 15346,
      "label": "congenital heart defects, multiple types, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2732,
        19775
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024987",
          "MEDGEN:862747",
          "OMIM:615779",
          "UMLS:C4014310"
        ],
        "synonyms": [
          "NR2F2 congenital heart defects, multiple types",
          "congenital heart defects, multiple types caused by mutation in NR2F2",
          "congenital heart defects, multiple types, 4",
          "CHTD4"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014344"
    },
    {
      "id": 16156,
      "label": "complete atrioventricular canal",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19775
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001454",
          "ICD9:745.69",
          "MEDGEN:65132",
          "MESH:C535974",
          "NANDO:2100086",
          "NANDO:2200269",
          "Orphanet:1329",
          "SCTID:360481003",
          "UMLS:C0221215"
        ],
        "synonyms": [
          "CAVC",
          "complete atrioventricular septal defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015273"
    },
    {
      "id": 16158,
      "label": "partial atrioventricular canal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19775
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004229",
          "MEDGEN:868879",
          "MESH:C536112",
          "NANDO:2200268",
          "Orphanet:1330",
          "SCTID:718216009",
          "UMLS:C4023290"
        ],
        "synonyms": [
          "PAVC",
          "partial atrioventricular canal defect",
          "partial AVSD",
          "partial atrioventricular septal defects",
          "partial common atrioventricular canal"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015275"
    },
    {
      "id": 25534,
      "label": "atrioventricular septal defect",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19775
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026743",
          "MEDGEN:501123",
          "OMIM:606215",
          "UMLS:C1389018"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859565"
    }
  ],
  "roots": [
    {
      "id": 4221,
      "label": "heart septal defect"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}