{
  "id": 19556,
  "label": "congenital mitral valve insufficiency and/or stenosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019817",
  "properties": {
    "xrefs": [
      "GARD:0019266",
      "ICD10CM:Q23",
      "MEDGEN:1842574",
      "Orphanet:95464",
      "UMLS:C5681577"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 17073,
      "label": "congenital mitral malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19327
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001495",
          "MEDGEN:1842184",
          "Orphanet:2447",
          "UMLS:C5680882"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016582"
    }
  ],
  "children": [
    {
      "id": 9330,
      "label": "familial mitral valve prolapse",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6662,
        19556,
        23092
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003687",
          "MEDGEN:573696",
          "OMIMPS:157700",
          "Orphanet:741",
          "SCTID:233858000",
          "UMLS:C0340364"
        ],
        "synonyms": [
          "hereditary mitral valve prolapse (disease)",
          "MVP",
          "mitral valve prolapse, familial",
          "mitral valve prolapse, familial, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 9,
      "reference_id": "MONDO:0008004"
    },
    {
      "id": 16070,
      "label": "congenital anomaly of the mitral subvalvular apparatus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5647,
        19556
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019784",
          "MEDGEN:756923",
          "Orphanet:101932",
          "UMLS:C3164517",
          "icd11.foundation:498751490"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015109"
    },
    {
      "id": 16136,
      "label": "mitral atresia disorder",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5647,
        7116,
        19556
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003685",
          "HP:0011560",
          "MEDGEN:91035",
          "NCIT:C98992",
          "Orphanet:1205",
          "SCTID:23063005",
          "UMLS:C0344760",
          "icd11.foundation:6462604"
        ],
        "synonyms": [
          "congenital atresia of mitral valve",
          "congenital mitral valve atresia",
          "mitral atresia",
          "mitral valve atresia"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A congenital heart defect characterized by the complete atresia of the mitral valve."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015249"
    },
    {
      "id": 19857,
      "label": "congenital mitral stenosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7463,
        19556,
        23092
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020398"
    },
    {
      "id": 19858,
      "label": "congenital hypoplasia of the mitral valve annulus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19556
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019625",
          "ICD9:746.89",
          "MEDGEN:757607",
          "Orphanet:99058",
          "SCTID:449270002",
          "UMLS:C3165203"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020399"
    },
    {
      "id": 19859,
      "label": "congenital supravalvular mitral ring",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19556
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019626",
          "MEDGEN:539536",
          "NANDO:2200308",
          "Orphanet:99059",
          "UMLS:C0265851"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020400"
    },
    {
      "id": 19860,
      "label": "congenital unguarded mitral orifice",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19556
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019627",
          "MEDGEN:576490",
          "Orphanet:99060",
          "UMLS:C0344769",
          "icd11.foundation:1824064279"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020401"
    },
    {
      "id": 19861,
      "label": "congenital accessory mitral valve tissue",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19556
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019628",
          "MEDGEN:576493",
          "Orphanet:99061",
          "UMLS:C0344774"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020402"
    },
    {
      "id": 19862,
      "label": "congenital mitral valve agenesis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19556
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019629",
          "MEDGEN:672659",
          "Orphanet:99062",
          "UMLS:C0685721"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020403"
    },
    {
      "id": 19863,
      "label": "shone complex",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        19556
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019630",
          "ICD9:746.84",
          "MEDGEN:501135",
          "MedDRA:10066802",
          "NCIT:C99058",
          "Orphanet:99063",
          "SCTID:41371000119100",
          "UMLS:C1868705",
          "icd11.foundation:295410302"
        ],
        "synonyms": [
          "shone syndrome",
          "shone's syndrome (greater than 3 sites)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020404"
    }
  ],
  "roots": [
    {
      "id": 17073,
      "label": "congenital mitral malformation"
    }
  ]
}