{
  "id": 19776,
  "label": "hypoplastic right heart syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020291",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 19559,
      "label": "univentricular cardiopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19327
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019269",
          "MEDGEN:1843389",
          "Orphanet:95483",
          "UMLS:C5681576"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0019820"
    }
  ],
  "children": [
    {
      "id": 11133,
      "label": "pulmonary atresia-intact ventricular septum syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        19776
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009931"
    },
    {
      "id": 11361,
      "label": "isolated right ventricular hypoplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        19776
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004721",
          "MEDGEN:336377",
          "MESH:C535682",
          "OMIM:277200",
          "Orphanet:439",
          "SCTID:718135001",
          "UMLS:C1848587"
        ],
        "synonyms": [
          "Irvh",
          "hypoplasia of the right ventricle",
          "isolated hypoplasia of the right ventricle",
          "right ventricle hypoplasia",
          "right ventricular hypoplasia",
          "right ventricular hypoplasia, isolated"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010179"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 19559,
      "label": "univentricular cardiopathy"
    }
  ]
}