{
  "id": 11070,
  "label": "lethal congenital glycogen storage disease of heart",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009867",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4502,
      "label": "disorder of glycogen metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19082,
        19107
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050728",
          "DOID:2747",
          "GARD:0018973",
          "ICD10CM:E74.0",
          "ICD9:271.0",
          "MEDGEN:6639",
          "MESH:D006008",
          "MedDRA:10061990",
          "NANDO:1200838",
          "NCIT:C61272",
          "OMIMPS:232200",
          "Orphanet:79201",
          "SCTID:29633007",
          "UMLS:C0017919",
          "icd11.foundation:1187107383"
        ],
        "synonyms": [
          "GSD",
          "glycogen storage disease",
          "glycogen storage disorder",
          "glycogenoses",
          "glycogenosis",
          "inborn error of glycogen metabolic process",
          "inborn glycogen metabolic process disorder",
          "inborn glycogen storage disorder",
          "rare inborn error of glycogen metabolic process"
        ],
        "definition": "An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues."
      },
      "child_count": 48,
      "reference_id": "MONDO:0002412"
    },
    {
      "id": 25068,
      "label": "PRKAG2-related cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6933
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:0800484"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4502,
      "label": "disorder of glycogen metabolism"
    },
    {
      "id": 25068,
      "label": "PRKAG2-related cardiomyopathy"
    }
  ]
}