{
  "id": 2764,
  "label": "polyglucosan body myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000192",
  "properties": {
    "xrefs": [
      "GARD:0022725",
      "OMIMPS:615895"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7023,
      "label": "myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:423",
          "EFO:0004145",
          "ICD9:359.8",
          "ICD9:359.9",
          "ICD9:728.3",
          "MEDGEN:10135",
          "NCIT:C101216",
          "SCTID:129565002",
          "UMLS:C0026848",
          "icd11.foundation:1870184184"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness."
      },
      "child_count": 32,
      "reference_id": "MONDO:0005336"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026375"
        ],
        "synonyms": [
          "genetic muscle disease",
          "genetic muscle disorder",
          "genetic muscular disease",
          "genetic muscular disorder",
          "hereditary muscle disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 66,
      "reference_id": "MONDO:0700223"
    }
  ],
  "children": [
    {
      "id": 15391,
      "label": "polyglucosan body myopathy 1 with or without immunodeficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2764,
        4502
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017643",
          "MEDGEN:863042",
          "NANDO:2200766",
          "OMIM:615895",
          "Orphanet:397937",
          "UMLS:C4014605"
        ],
        "synonyms": [
          "PGBM1",
          "polyglucosan body myopathy 1 with or without immunodeficiency",
          "polyglucosan body myopathy type 1",
          "polyglucosan body myopathy, early-onset, with or without immunodeficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014389"
    },
    {
      "id": 15525,
      "label": "polyglucosan body myopathy type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2764,
        24050
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017793",
          "MEDGEN:863889",
          "OMIM:616199",
          "Orphanet:456369",
          "UMLS:C4015452"
        ],
        "synonyms": [
          "GYG1 polyglucosan body myopathy",
          "polyglucosan body myopathy caused by mutation in GYG1",
          "polyglucosan body myopathy type 2",
          "PGBM2",
          "polyglucosan body myopathy 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014526"
    }
  ],
  "roots": [
    {
      "id": 7023,
      "label": "myopathy"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder"
    }
  ]
}