{
  "id": 2960,
  "label": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000507",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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": 17600,
      "label": "frontotemporal dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16360,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9255",
          "GARD:0008436",
          "ICD10CM:G31.0",
          "MEDGEN:83266",
          "MESH:D057180",
          "MedDRA:10068968",
          "NANDO:1200548",
          "NCIT:C84719",
          "Orphanet:282",
          "UMLS:C0338451",
          "icd11.foundation:831337417"
        ],
        "synonyms": [
          "FTD",
          "MSTD",
          "frontotemporal lobe dementia (FLDEM)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy."
      },
      "child_count": 8,
      "reference_id": "MONDO:0017276"
    }
  ],
  "children": [
    {
      "id": 9489,
      "label": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2960
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008178"
    },
    {
      "id": 15185,
      "label": "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2960
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111384",
          "GARD:0015962",
          "MEDGEN:815798",
          "OMIM:615422",
          "UMLS:C3809468"
        ],
        "synonyms": [
          "HNRNPA2B1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia",
          "inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA2B1",
          "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2",
          "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 2",
          "IBMPFD2",
          "multisystem Proteinopathy 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014178"
    },
    {
      "id": 15186,
      "label": "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2960
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111386",
          "GARD:0015963",
          "MEDGEN:815799",
          "OMIM:615424",
          "UMLS:C3809469"
        ],
        "synonyms": [
          "HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia",
          "inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1",
          "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3",
          "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3",
          "inclusion body myopathy with early-onset paget disease without frontotemporal dementia 3",
          "IBMPFD3",
          "multisystem Proteinopathy 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014179"
    },
    {
      "id": 25239,
      "label": "inclusion body myopathy and brain white matter abnormalities",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        2960
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081121",
          "GARD:0026631",
          "MEDGEN:1812978",
          "OMIM:619733",
          "UMLS:C5676909"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850514"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16735,
      "label": "hereditary inclusion-body myopathy"
    },
    {
      "id": 17600,
      "label": "frontotemporal dementia"
    }
  ]
}