{
  "id": 19857,
  "label": "congenital mitral stenosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020398",
  "properties": {
    "xrefs": [
      "GARD:0001496",
      "HP:0011570",
      "ICD10CM:Q23.2",
      "ICD9:746.5",
      "MEDGEN:57857",
      "NANDO:1200963",
      "Orphanet:99057",
      "SCTID:82458004",
      "UMLS:C0158618",
      "icd11.foundation:2102952411"
    ],
    "synonyms": [
      "congenital mitral stenosis",
      "congenital mitral stenosis (disease)",
      "congenital mitral valve stenosis",
      "hereditary mitral valve stenosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnea, cough, cyanosis and congestive heart failure."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7463,
      "label": "mitral valve stenosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5647
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1754",
          "EFO:0007372",
          "MEDGEN:44466",
          "MESH:D008946",
          "NANDO:1200963",
          "NANDO:2200302",
          "NCIT:C50654",
          "SCTID:79619009",
          "UMLS:C0026269",
          "icd11.foundation:2115139779"
        ],
        "synonyms": [
          "mitral stenosis",
          "mitral stenoses",
          "mitral valve stenoses",
          "stenoses, mitral",
          "stenoses, mitral valve",
          "stenosis, mitral",
          "stenosis, mitral valve",
          "valve stenoses, mitral",
          "valve stenosis, mitral"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Narrowing of the left atrioventricular mitral orifice."
      },
      "child_count": 1,
      "reference_id": "MONDO:0005852"
    },
    {
      "id": 19556,
      "label": "congenital mitral valve insufficiency and/or stenosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17073
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019266",
          "ICD10CM:Q23",
          "MEDGEN:1842574",
          "Orphanet:95464",
          "UMLS:C5681577"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 10,
      "reference_id": "MONDO:0019817"
    },
    {
      "id": 23092,
      "label": "inherited mitral valve disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5647,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:539532",
          "SCTID:75372006",
          "UMLS:C0265845"
        ],
        "synonyms": [
          "congenital anomaly of mitral valve",
          "hereditary mitral valve disease",
          "congenital malformation of mitral valve",
          "congenital mitral valve abnormality"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "An instance of mitral valve disease that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 4,
      "reference_id": "MONDO:0042966"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7463,
      "label": "mitral valve stenosis"
    },
    {
      "id": 19556,
      "label": "congenital mitral valve insufficiency and/or stenosis"
    },
    {
      "id": 23092,
      "label": "inherited mitral valve disease"
    }
  ]
}