{
  "id": 6680,
  "label": "hypoplastic left heart syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0004933",
  "properties": {
    "xrefs": [
      "DOID:9955",
      "GARD:0006739",
      "ICD10CM:Q23.4",
      "ICD9:746.7",
      "MEDGEN:57746",
      "MESH:D018636",
      "MedDRA:10021076",
      "NANDO:1200705",
      "NANDO:2100071",
      "NANDO:2200249",
      "NCIT:C98894",
      "NORD:1277",
      "OMIMPS:241550",
      "Orphanet:2248",
      "SCTID:62067003",
      "UMLS:C0152101",
      "icd11.foundation:1811800027"
    ],
    "synonyms": [
      "HLHS"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7229,
      "label": "congenital left-sided heart lesions",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19327
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0005938",
          "GARD:0024207",
          "MEDGEN:868006",
          "UMLS:C4022397"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth."
      },
      "child_count": 1,
      "reference_id": "MONDO:0005584"
    },
    {
      "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"
    },
    {
      "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"
    },
    {
      "id": 24336,
      "label": "syndromic congenital heart disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7116
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Congenital heart disease with co-occurrence of other extracardiac congenital anomalies, or well characterized genetic conditions."
      },
      "child_count": 16,
      "reference_id": "MONDO:0100614"
    }
  ],
  "children": [
    {
      "id": 10662,
      "label": "hypoplastic left heart syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6680
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024671",
          "MEDGEN:1646779",
          "OMIM:241550",
          "UMLS:C4551854"
        ],
        "synonyms": [
          "HLHS",
          "GJA1 hypoplastic left heart syndrome",
          "hypoplastic left heart syndrome 1",
          "hypoplastic left heart syndrome caused by mutation in GJA1",
          "hypoplastic left heart syndrome type 1",
          "HLHS1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009433"
    },
    {
      "id": 14770,
      "label": "hypoplastic left heart syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6680
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015803",
          "MEDGEN:482425",
          "MedDRA:10021076",
          "OMIM:614435",
          "UMLS:C3280795"
        ],
        "synonyms": [
          "NKX2-5 hypoplastic left heart syndrome",
          "hypoplastic left heart syndrome 2",
          "hypoplastic left heart syndrome caused by mutation in NKX2-5",
          "hypoplastic left heart syndrome type 2",
          "HLHS2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013752"
    }
  ],
  "roots": [
    {
      "id": 7229,
      "label": "congenital left-sided heart lesions"
    },
    {
      "id": 19559,
      "label": "univentricular cardiopathy"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    },
    {
      "id": 24336,
      "label": "syndromic congenital heart disease"
    }
  ]
}