{
  "id": 9164,
  "label": "inclusion body myositis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007827",
  "properties": {
    "xrefs": [
      "DOID:3429",
      "EFO:0007323",
      "GARD:0003896",
      "ICD10CM:G72.41",
      "ICD9:359.71",
      "ICD9:729.1",
      "MEDGEN:68659",
      "MESH:D018979",
      "MedDRA:10066407",
      "NANDO:1200032",
      "NANDO:1200218",
      "NCIT:C84786",
      "NORD:1734",
      "OMIM:147421",
      "Orphanet:611",
      "SCTID:72315009",
      "UMLS:C0238190"
    ],
    "synonyms": [
      "IBM",
      "Sporadic Inclusion Body Myositis",
      "inclusion body myositis",
      "sIBM",
      "sporadic inclusion body myositis",
      "Ibm",
      "inflammatory myopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 20400,
      "label": "myositis disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        20399
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:633",
          "EFO:0000783",
          "ICD9:728.9",
          "MEDGEN:44564",
          "MESH:D009220",
          "NCIT:C27578",
          "SCTID:128496001",
          "UMLS:C0027121"
        ],
        "synonyms": [
          "inflammation of muscle tissue",
          "inflammatory disorder of muscle (disorder)",
          "muscle tissue inflammation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue."
      },
      "child_count": 22,
      "reference_id": "MONDO:0021167"
    }
  ],
  "children": [
    {
      "id": 12673,
      "label": "myopathy, proximal, and ophthalmoplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        9164,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080719",
          "GARD:0024809",
          "MEDGEN:381340",
          "MESH:C565311",
          "OMIM:605637",
          "UMLS:C1854106"
        ],
        "synonyms": [
          "myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles",
          "myopathy, proximal, and ophthalmoplegia",
          "MYPOP",
          "inclusion body myopathy 3, autosomal dominant",
          "inclusion body myopathy 3, autosomal dominant, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any congenital myopathy in which the cause of the disease is a mutation in MYH2 gene. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. It can show both autosomal dominant and autosomal recessive inheritance."
      },
      "child_count": 4,
      "reference_id": "MONDO:0011577"
    },
    {
      "id": 12699,
      "label": "GNE myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9164,
        10564,
        16735,
        17978,
        18746
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080718",
          "GARD:0009493",
          "MEDGEN:381298",
          "NANDO:1200218",
          "NORD:2011",
          "OMIM:605820",
          "Orphanet:602",
          "SCTID:702382000",
          "UMLS:C1853926"
        ],
        "synonyms": [
          "DMRV",
          "HIBM2",
          "IBM2",
          "Nonaka myopathy",
          "distal myopathy with rimmed vacuoles",
          "distal myopathy, Nonaka type",
          "hereditary inclusion body myopathy type 2",
          "inclusion body myopathy autosomal recessive",
          "inclusion body myopathy type 2",
          "quadriceps-sparing myopathy",
          "NM",
          "Nonaka distal myopathy",
          "QSM",
          "inclusion body myopathy 2, autosomal recessive",
          "inclusion body myopathy 2, autosomal recessive, formerly",
          "inclusion body myopathy, autosomal recessive",
          "inclusion body myopathy, hereditary, autosomal recessive",
          "inclusion body myopathy, quadriceps-sparing",
          "myopathy, distal, with or without rimmed vacuoles",
          "myopathy, distal, with rimmed vacuoles",
          "quadriceps sparing myopathy",
          "rimmed vacuole myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011603"
    }
  ],
  "roots": [
    {
      "id": 20400,
      "label": "myositis disease"
    }
  ]
}