{
  "id": 12699,
  "label": "GNE myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011603",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9164,
      "label": "inclusion body myositis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20400
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0007827"
    },
    {
      "id": 10564,
      "label": "congenital hematological disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:760584",
          "NCIT:C104003",
          "UMLS:C3267032"
        ],
        "synonyms": [
          "congenital haematological system disease",
          "congenital hematological disorder",
          "congenital hematological system disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disorder of the blood that is present at birth."
      },
      "child_count": 21,
      "reference_id": "MONDO:0009332"
    },
    {
      "id": 16735,
      "label": "hereditary inclusion-body myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020364",
          "MEDGEN:1843174",
          "Orphanet:206662",
          "UMLS:C5680794"
        ],
        "synonyms": [
          "inclusion myopathy",
          "cytoplasmic body myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 16,
      "reference_id": "MONDO:0016112"
    },
    {
      "id": 17978,
      "label": "disorder of multiple glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021343",
          "MEDGEN:1843364",
          "Orphanet:309526",
          "UMLS:C5681039",
          "icd11.foundation:684473574"
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0017749"
    },
    {
      "id": 18746,
      "label": "syndromic constitutional thrombocytopenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021967",
          "MEDGEN:1843101",
          "Orphanet:477794",
          "UMLS:C5681257"
        ],
        "synonyms": [
          "syndromic constitutional thrombocytopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 12,
      "reference_id": "MONDO:0018795"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9164,
      "label": "inclusion body myositis"
    },
    {
      "id": 10564,
      "label": "congenital hematological disorder"
    },
    {
      "id": 16735,
      "label": "hereditary inclusion-body myopathy"
    },
    {
      "id": 17978,
      "label": "disorder of multiple glycosylation"
    },
    {
      "id": 18746,
      "label": "syndromic constitutional thrombocytopenia"
    }
  ]
}