{
  "id": 18756,
  "label": "congenital portosystemic shunt",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018811",
  "properties": {
    "xrefs": [
      "GARD:0021979",
      "MEDGEN:712860",
      "Orphanet:480531",
      "UMLS:C1290495",
      "icd11.foundation:682625970"
    ],
    "synonyms": [
      "congenital portosystemic venous fistula"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumors."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 7065,
      "label": "vascular disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:178",
          "EFO:0004264",
          "ICD10CM:I00-I99",
          "ICD10CM:I70-I79",
          "ICD9:442.9",
          "MEDGEN:22621",
          "MESH:D014652",
          "NANDO:2100294",
          "NCIT:C35117",
          "SCTID:27550009",
          "UMLS:C0042373"
        ],
        "synonyms": [
          "disease of vasculature",
          "disease or disorder of vasculature",
          "disorder of vasculature",
          "vascular disorder",
          "vasculature disease",
          "vasculature disease or disorder",
          "vasculopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome."
      },
      "child_count": 60,
      "reference_id": "MONDO:0005385"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [
    {
      "id": 12215,
      "label": "patent ductus venosus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        18756
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027126",
          "ICD9:747.49",
          "MEDGEN:91033",
          "MESH:C562830",
          "OMIM:601466",
          "SCTID:253330006",
          "UMLS:C0344688"
        ],
        "synonyms": [
          "patent ductus venosus",
          "PDV",
          "PSVS",
          "portosystemic Venous shunt, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Patent ductus venosus (PDV) is an extremely rare form of congenital portosystemic shunt that results in the diversion of portal blood into the systemic circulation. Failure of DV closure after birth leads to PDV. PDV results in portal venous blood bypassing the liver and directly entering the systemic circulation, decreasing hepatic blood flow and increasing blood volume and toxic substances in the systemic circulation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011089"
    }
  ],
  "roots": [
    {
      "id": 7065,
      "label": "vascular disorder"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}