{
  "id": 25068,
  "label": "PRKAG2-related cardiomyopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800484",
  "properties": {
    "xrefs": [
      "GARD:0026575"
    ],
    "synonyms": [
      "PRKAG2 cardiac syndrome",
      "PRKAG2 cardiomyopathy",
      "PRKAG2 syndrome",
      "PRKAG2-related cardiomyopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "A metabolic heart condition characterized by variable cardiac hypertrophy, ventricular pre-excitation, and aberrant glycogen storage in the cardiac tissue due to a pathogenic variant in PRKAG2 that results in a net anabolic effect in cardiac cells."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 6933,
      "label": "familial cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6735,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0002945",
          "GARD:0024166",
          "ICD9:425.4",
          "MEDGEN:538845",
          "SCTID:35728003",
          "UMLS:C0264789",
          "icd11.foundation:1018022925"
        ],
        "synonyms": [
          "hereditary cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 18,
      "reference_id": "MONDO:0005217"
    }
  ],
  "children": [
    {
      "id": 9960,
      "label": "Wolff-Parkinson-White syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3258,
        25068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:384",
          "EFO:1001450",
          "HP:0001716",
          "ICD9:426.7",
          "MEDGEN:12162",
          "MESH:D014927",
          "NANDO:2200217",
          "NCIT:C35132",
          "OMIM:194200",
          "Orphanet:907",
          "SCTID:17869006",
          "UMLS:C0043202",
          "icd11.foundation:1091030330"
        ],
        "synonyms": [
          "WPW",
          "Wolff-Parkinson-White pattern (finding)",
          "Wolff-Parkinson-White syndrome",
          "Wolff-Parkinson-white syndrome (disease)",
          "ventricular familial preexcitation syndrome",
          "Wpw syndrome",
          "accessory atrioventricular pathways",
          "preexcitation syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008685"
    },
    {
      "id": 11070,
      "label": "lethal congenital glycogen storage disease of heart",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4502,
        25068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090101",
          "GARD:0010728",
          "MEDGEN:337919",
          "MESH:C564888",
          "OMIM:261740",
          "Orphanet:439854",
          "UMLS:C1849813"
        ],
        "synonyms": [
          "PRKAG2 glycogen storage disease",
          "fatal congenital hypertrophic cardiomyopathy due to GSD",
          "fatal congenital hypertrophic cardiomyopathy due to glycogenosis",
          "glycogen storage disease caused by mutation in PRKAG2",
          "phosphorylase kinase deficiency of heart",
          "fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease",
          "glycogen storage disease of heart",
          "glycogen storage disease of heart, lethal congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009867"
    },
    {
      "id": 12076,
      "label": "hypertrophic cardiomyopathy 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21518,
        25068
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110312",
          "GARD:0024763",
          "MEDGEN:331466",
          "MESH:C563436",
          "OMIM:600858",
          "UMLS:C1833236"
        ],
        "synonyms": [
          "CMH6",
          "PRKAG2 hypertrophic cardiomyopathy",
          "cardiomyopathy, familial hypertrophic, type 6",
          "cardiomyopathy, hypertrophic 6",
          "hypertrophic cardiomyopathy 6",
          "hypertrophic cardiomyopathy caused by mutation in PRKAG2",
          "hypertrophic cardiomyopathy type 6",
          "cardiomyopathy, familial hypertrophic, 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010946"
    }
  ],
  "roots": [
    {
      "id": 6933,
      "label": "familial cardiomyopathy"
    }
  ]
}