{
  "id": 12076,
  "label": "hypertrophic cardiomyopathy 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010946",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 21518,
      "label": "familial hypertrophic cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6777,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080326",
          "MEDGEN:183649",
          "MESH:D024741",
          "NCIT:C84773",
          "OMIMPS:192600",
          "Orphanet:155",
          "SCTID:471885006",
          "UMLS:C0949658",
          "icd11.foundation:1408928442"
        ],
        "synonyms": [
          "cardiomyopathy, familial hypertrophic",
          "familial hypertrophic cardiomyopathy",
          "familila or idiopathic hypertrophic obstructive cardiomyopathy",
          "hereditary hypertrophic cardiomyopathy",
          "hypertrophic familial cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions."
      },
      "child_count": 80,
      "reference_id": "MONDO:0024573"
    },
    {
      "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": 21518,
      "label": "familial hypertrophic cardiomyopathy"
    },
    {
      "id": 25068,
      "label": "PRKAG2-related cardiomyopathy"
    }
  ]
}