{
  "id": 16735,
  "label": "hereditary inclusion-body myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016112",
  "properties": {
    "xrefs": [
      "GARD:0020364",
      "MEDGEN:1843174",
      "Orphanet:206662",
      "UMLS:C5680794"
    ],
    "synonyms": [
      "inclusion myopathy",
      "cytoplasmic body myopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "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": 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"
    },
    {
      "id": 11828,
      "label": "X-linked myopathy with excessive autophagy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16732,
        16735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050760",
          "GARD:0003892",
          "MEDGEN:374264",
          "MESH:C536522",
          "NANDO:1200223",
          "NORD:1866",
          "OMIM:310440",
          "Orphanet:25980",
          "SCTID:719815005",
          "UMLS:C1839615"
        ],
        "synonyms": [
          "XMEA",
          "myopathy, X-linked, with excessive autophagy, X-linked recessive",
          "vacuolar myopathy",
          "MEAX",
          "myopathy, X-linked, with excessive autophagy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings."
      },
      "child_count": 2,
      "reference_id": "MONDO:0010684"
    },
    {
      "id": 12472,
      "label": "myopathy, myofibrillar, 9, with early respiratory failure",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16732,
        16734,
        16735,
        24220
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111188",
          "GARD:0012591",
          "MEDGEN:350930",
          "MESH:C564377",
          "MESH:C566343",
          "OMIM:603689",
          "OMIM:607569",
          "Orphanet:178464",
          "Orphanet:34521",
          "SCTID:702373006",
          "SCTID:733490006",
          "UMLS:C1863599"
        ],
        "synonyms": [
          "ADMERF",
          "Edstrom myopathy",
          "Edström myopathy",
          "HIBM-ERF",
          "HMERF",
          "HMERF-ERF",
          "distal myopathy with early respiratory muscle involvement",
          "hereditary inclusion body myopathy with early respiratory failure",
          "hereditary proximal myopathy with early respiratory failure",
          "myofibrillar myopathy with early respiratory failure",
          "myopathy, distal, with early respiratory failure, autosomal dominant",
          "myopathy, proximal, with early respiratory muscle involvement"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011362"
    },
    {
      "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"
    },
    {
      "id": 18131,
      "label": "hereditary inclusion body myopathy type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021440",
          "MEDGEN:1669421",
          "Orphanet:324381",
          "UMLS:C4749501"
        ],
        "synonyms": [
          "HIBM4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017931"
    },
    {
      "id": 18339,
      "label": "childhood-onset autosomal recessive myopathy with external ophthalmoplegia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        12673,
        16735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017568",
          "MEDGEN:1673410",
          "Orphanet:363677",
          "UMLS:C5192594"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018206"
    },
    {
      "id": 19065,
      "label": "hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        12673,
        16735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009494",
          "MEDGEN:1382737",
          "Orphanet:79091",
          "SCTID:724349009",
          "UMLS:C4510610"
        ],
        "synonyms": [
          "HIBM3",
          "IBM3",
          "hereditary inclusion body myopathy type 3",
          "inclusion body myopathy type 3",
          "Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia",
          "Hereditary inclusion body myopathy type 3",
          "Inclusion body myopathy autosomal dominant",
          "Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019195"
    },
    {
      "id": 19228,
      "label": "desmin-related myopathy with Mallory body-like inclusions",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12391,
        16735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016732",
          "MEDGEN:898925",
          "Orphanet:84132",
          "UMLS:C4275073",
          "icd11.foundation:998522839"
        ],
        "synonyms": [
          "early-onset desmin-related myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019398"
    }
  ],
  "roots": [
    {
      "id": 7023,
      "label": "myopathy"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder"
    }
  ]
}