{
  "id": 8134,
  "label": "atrial septal defect",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0006664",
  "properties": {
    "xrefs": [
      "DOID:1882",
      "EFO:1000825",
      "ICD10CM:Q21.1",
      "MEDGEN:6753",
      "MESH:D006344",
      "MedDRA:10003664",
      "MedDRA:10019308",
      "MedDRA:10068864",
      "NANDO:2100085",
      "NCIT:C84473",
      "NORD:820",
      "OMIMPS:108800",
      "Orphanet:1478",
      "SCTID:253366007",
      "UMLS:C0018817",
      "icd11.foundation:1285985084"
    ],
    "synonyms": [
      "ASD",
      "Atrial Septal Defects",
      "atrial septal defect",
      "atrial septum defect",
      "auricular septal defect",
      "congenital atrial septal defect",
      "interatrial septal defect",
      "interauricular communication",
      "interatrial communication"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 15,
  "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": 8283,
      "label": "Lutembacher syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8134
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1998",
          "GARD:0024484",
          "MEDGEN:9825",
          "MESH:D008185",
          "SCTID:204319006",
          "UMLS:C0024164"
        ],
        "synonyms": [
          "Lutembacher's syndrome",
          "Lutembachers syndrome",
          "syndrome, Lutembacher",
          "syndrome, Lutembacher's"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0006839"
    },
    {
      "id": 8579,
      "label": "atrial septal defect 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8134
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110106",
          "GARD:0024529",
          "MEDGEN:349495",
          "OMIM:108800",
          "UMLS:C1862389"
        ],
        "synonyms": [
          "ASD1",
          "atrial heart septal defect type 1",
          "atrial septal defect 1",
          "ASD 1",
          "ASD 2",
          "atrial septal defect, primum type",
          "atrial septal defect, secundum type"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "An atrial heart septal defect type 1 associated with variation in the region 5p."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007172"
    },
    {
      "id": 8580,
      "label": "atrial septal defect 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8134
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110112",
          "GARD:0016566",
          "MEDGEN:477726",
          "OMIM:108900",
          "Orphanet:1479",
          "UMLS:C3276096"
        ],
        "synonyms": [
          "ASD with or without atrioventricular conduction defects",
          "NKX2-5 atrial heart septal defect",
          "atrial heart septal defect caused by mutation in NKX2-5",
          "atrial heart septal defect type 7",
          "atrial septal defect-atrioventricular conduction defects syndrome",
          "ASD7",
          "atrial septal defect 7 with or without atrioventricular conduction defects"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007173"
    },
    {
      "id": 13012,
      "label": "atrial septal defect 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8134,
        23767
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110107",
          "GARD:0024832",
          "MEDGEN:334249",
          "MESH:C538263",
          "OMIM:607941",
          "UMLS:C1842778"
        ],
        "synonyms": [
          "ASD2",
          "GATA4 atrial heart septal defect",
          "atrial heart septal defect caused by mutation in GATA4",
          "atrial heart septal defect type 2",
          "atrial septal defect 2",
          "atrial septal defect type 2"
        ],
        "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 GATA4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011938"
    },
    {
      "id": 13695,
      "label": "atrial septal defect 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8134
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110109",
          "GARD:0015512",
          "MEDGEN:369556",
          "MESH:C566963",
          "OMIM:611363",
          "UMLS:C1969657"
        ],
        "synonyms": [
          "ASD4",
          "TBX20 atrial heart septal defect",
          "atrial heart septal defect caused by mutation in TBX20",
          "atrial heart septal defect type 4",
          "atrial septal defect 4",
          "atrial septal defect type 4"
        ],
        "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 TBX20 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012654"
    },
    {
      "id": 14050,
      "label": "atrial septal defect 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8134
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110110",
          "GARD:0024898",
          "MEDGEN:412580",
          "MESH:C567561",
          "OMIM:612794",
          "UMLS:C2748552"
        ],
        "synonyms": [
          "ACTC1 atrial heart septal defect",
          "ASD5",
          "atrial heart septal defect caused by mutation in ACTC1",
          "atrial heart septal defect type 5",
          "atrial septal defect 5",
          "atrial septal defect type 5"
        ],
        "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 ACTC1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013011"
    },
    {
      "id": 14161,
      "label": "atrial septal defect 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8134
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110111",
          "GARD:0024900",
          "MEDGEN:414348",
          "MESH:C567764",
          "OMIM:613087",
          "UMLS:C2751315"
        ],
        "synonyms": [
          "ASD6",
          "TLL1 atrial heart septal defect",
          "atrial heart septal defect caused by mutation in TLL1",
          "atrial heart septal defect type 6",
          "atrial septal defect 6",
          "atrial septal defect type 6"
        ],
        "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 TLL1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013123"
    },
    {
      "id": 14595,
      "label": "atrial septal defect 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8134
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110108",
          "GARD:0015755",
          "MEDGEN:481420",
          "MESH:C563540",
          "OMIM:614089",
          "UMLS:C3279790"
        ],
        "synonyms": [
          "ASD3",
          "MYH6 atrial heart septal defect",
          "atrial heart septal defect caused by mutation in MYH6",
          "atrial heart septal defect type 3",
          "atrial septal defect 3",
          "atrial septal defect type 3"
        ],
        "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 MYH6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013567"
    },
    {
      "id": 14768,
      "label": "atrial septal defect 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8134
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110113",
          "GARD:0024945",
          "MEDGEN:482420",
          "OMIM:614433",
          "UMLS:C3280790"
        ],
        "synonyms": [
          "ASD8",
          "CITED2 atrial heart septal defect",
          "atrial heart septal defect caused by mutation in CITED2",
          "atrial heart septal defect type 8",
          "atrial septal defect 8",
          "atrial septal defect type 8"
        ],
        "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 CITED2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013750"
    },
    {
      "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"
    },
    {
      "id": 19893,
      "label": "atrial septal defect, ostium secundum type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8134
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005865",
          "MEDGEN:91034",
          "MedDRA:10031302",
          "MedDRA:10031303",
          "NANDO:2200266",
          "Orphanet:99103",
          "UMLS:C0344724",
          "icd11.foundation:1875768490"
        ],
        "synonyms": [
          "ASD, ostium secundum type",
          "ASD ostium secundum type",
          "osASD",
          "ostium secundum ASD",
          "ostium secundum atrial septal defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020434"
    },
    {
      "id": 19894,
      "label": "atrial septal defect, coronary sinus type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8134,
        24336
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010697",
          "ICD9:746.89",
          "MEDGEN:488986",
          "Orphanet:99104",
          "SCTID:40272001",
          "UMLS:C2063331",
          "icd11.foundation:664625334",
          "icd11.foundation:800577917"
        ],
        "synonyms": [
          "ASD, coronary sinus type",
          "atrial septal defect coronary sinus",
          "unroofed coronary sinus",
          "ASD coronary sinus",
          "coronary sinus atrial septal defects"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020435"
    },
    {
      "id": 19895,
      "label": "atrial septal defect, sinus venosus type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8134
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010696",
          "MEDGEN:138011",
          "MESH:C548009",
          "NANDO:2200267",
          "Orphanet:99105",
          "SCTID:95268002",
          "UMLS:C0344730",
          "icd11.foundation:1930019148"
        ],
        "synonyms": [
          "ASD, sinus venosus type",
          "atrial septal defect sinus venosus",
          "sinus venosus ASD",
          "sinus venosus atrial septal defects"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020436"
    },
    {
      "id": 19896,
      "label": "atrial septal defect, ostium primum type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8134
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010695",
          "MEDGEN:1825952",
          "MESH:C548006",
          "Orphanet:99106",
          "SCTID:17718000",
          "UMLS:C5680294",
          "icd11.foundation:1159570489"
        ],
        "synonyms": [
          "ASD ostium primum type",
          "ASD, ostium primum type",
          "PAVC",
          "PAVSD",
          "atrial septal defect ostium primum",
          "atrioventricular defect with atrial shunting only",
          "incomplete atrioventricular canal defect with isolated atrial component",
          "incomplete atrioventricular septal defect with isolated atrial component",
          "ostium primum ASD",
          "partial atrioventricular canal defect with isolated atrial component",
          "partial atrioventricular septal defect",
          "partial atrioventricular septal defect: ostium primum type",
          "primum atrial septal defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Atrioventricular septal defect with communication at the atrial level only."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020437"
    },
    {
      "id": 19898,
      "label": "patent foramen ovale",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8134
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13620",
          "HP:0001655",
          "MEDGEN:8891",
          "MESH:D054092",
          "MedDRA:10016982",
          "NANDO:2200266",
          "NCIT:C34619",
          "Orphanet:99108",
          "UMLS:C0016522",
          "icd11.foundation:1618980674"
        ],
        "synonyms": [
          "ostium secundum type atrial septal defect",
          "patent foramen ovale",
          "patent foramen ovale (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020439"
    }
  ],
  "roots": [
    {
      "id": 4221,
      "label": "heart septal defect"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}