{
  "id": 24265,
  "label": "GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100540",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7116,
      "label": "congenital heart disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6967,
        21294
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1682",
          "EFO:0005207",
          "ICD9:746.84",
          "ICD9:746.89",
          "ICD9:746.9",
          "MEDGEN:57501",
          "MESH:D006330",
          "NCIT:C95834",
          "SCTID:13213009",
          "UMLS:C0152021",
          "icd11.foundation:2004408087"
        ],
        "synonyms": [
          "heart malformation",
          "congenital anomaly of heart",
          "congenital heart defect",
          "congenital heart defects",
          "Abnormality, heart",
          "abnormalities, heart",
          "defect, congenital heart",
          "defects, congenital heart",
          "heart abnormalities",
          "heart abnormality",
          "heart defect, congenital",
          "heart, malformation Of"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale."
      },
      "child_count": 46,
      "reference_id": "MONDO:0005453"
    },
    {
      "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": 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": 14788,
      "label": "atrial septal defect 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8134,
        24265
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110114",
          "GARD:0024949",
          "MEDGEN:482573",
          "OMIM:614475",
          "UMLS:C3280943"
        ],
        "synonyms": [
          "ASD9",
          "GATA6 atrial heart septal defect",
          "atrial heart septal defect caused by mutation in GATA6",
          "atrial heart septal defect type 9",
          "atrial septal defect 9",
          "atrial septal defect type 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013770"
    }
  ],
  "roots": [
    {
      "id": 7116,
      "label": "congenital heart disease"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}