{
  "id": 9489,
  "label": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008178",
  "properties": {
    "xrefs": [
      "DOID:0111385",
      "GARD:0024608",
      "MEDGEN:1641069",
      "MESH:C563476",
      "NCIT:C122663",
      "OMIM:167320",
      "UMLS:C4551951"
    ],
    "synonyms": [
      "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1",
      "inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1",
      "IBMPFD1",
      "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1",
      "lower motor neuron degeneration with Paget-like bone disease",
      "multisystem proteinopathy 1",
      "muscular dystrophy, limb-girdle, with Paget disease of bone",
      "pagetoid amyotrophic lateral sclerosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2960,
      "label": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16735,
        17600
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050881",
          "GARD:0010899",
          "MEDGEN:322251",
          "OMIMPS:167320",
          "Orphanet:52430",
          "SCTID:703544004",
          "UMLS:C1833662",
          "icd11.foundation:1947548457"
        ],
        "synonyms": [
          "IBMPFD",
          "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia",
          "inclusion body myopathy/Paget disease/frontotemporal dementia",
          "limb-girdle muscular dystrophy with Paget disease of bone",
          "pagetoid amyotrophic lateral sclerosis",
          "pagetoid neuroskeletal syndrome",
          "inclusion body myopathy with early-onset Paget disease and frontotemporal dementia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure."
      },
      "child_count": 12,
      "reference_id": "MONDO:0000507"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2960,
      "label": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia"
    }
  ]
}