{
  "id": 11133,
  "label": "pulmonary atresia-intact ventricular septum syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009931",
  "properties": {
    "xrefs": [
      "GARD:0004600",
      "MEDGEN:87491",
      "MESH:C562832",
      "NANDO:1200707",
      "NANDO:2200253",
      "NCIT:C99032",
      "OMIM:265150",
      "Orphanet:1208",
      "SCTID:253590009",
      "UMLS:C0344975",
      "icd11.foundation:131289265"
    ],
    "synonyms": [
      "pulmonary valve atresia with intact ventricular septum",
      "pulmonary atresia with intact ventricular septum"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 19776,
      "label": "hypoplastic right heart syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        19559
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070315",
          "GARD:0002922",
          "ICD10CM:Q22.6",
          "ICD9:746.89",
          "MEDGEN:83376",
          "MedDRA:10050053",
          "MedDRA:10064962",
          "NCIT:C99053",
          "Orphanet:98723",
          "SCTID:268180007",
          "UMLS:C0344963"
        ],
        "synonyms": [
          "right hypoplastic heart syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0020291"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 19776,
      "label": "hypoplastic right heart syndrome"
    }
  ]
}