{
  "id": 18865,
  "label": "myofibrillar myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018943",
  "properties": {
    "xrefs": [
      "DOID:0080307",
      "GARD:0010529",
      "HP:0003715",
      "ICD9:359.89",
      "MEDGEN:395532",
      "MESH:C580316",
      "NCIT:C83009",
      "OMIMPS:601419",
      "Orphanet:593",
      "SCTID:699269005",
      "UMLS:C2678065",
      "icd11.foundation:125656853"
    ],
    "synonyms": [
      "myofibrillar myopathy",
      "myofibrillar myopathy (disease)",
      "Alpha Beta crystallinopathy (type)",
      "Desminopathy (type)",
      "Protein surplus myopathy (former name)",
      "Zaspopathy (type)",
      "desmin related myopathy (former name)",
      "desmin storage myopathy (former name)",
      "filaminopathy (type)",
      "myofibrillar myopathies",
      "myotilinopathy (type)"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 13,
  "parents": [
    {
      "id": 4928,
      "label": "congenital structural myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:422",
          "GARD:0023302",
          "MEDGEN:156050",
          "MESH:D020914",
          "NANDO:1200482",
          "NANDO:2200867",
          "NCIT:C84648",
          "UMLS:C0752282"
        ],
        "synonyms": [
          "centronuclear myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills."
      },
      "child_count": 6,
      "reference_id": "MONDO:0002921"
    }
  ],
  "children": [
    {
      "id": 8694,
      "label": "central core myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18865,
        23892,
        23937
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3529",
          "EFO:1000855",
          "GARD:0006014",
          "MEDGEN:1841337",
          "MESH:D020512",
          "NANDO:1200479",
          "NANDO:2200870",
          "NCIT:C83010",
          "OMIM:117000",
          "Orphanet:597",
          "SCTID:43152001",
          "UMLS:C5830701",
          "icd11.foundation:2065822840"
        ],
        "synonyms": [
          "central core disease",
          "CCD",
          "Cco",
          "Shy-Magee syndrome",
          "central CORE disease of muscle",
          "minicore myopathy, moderate, with hand involvement",
          "multicore myopathy, moderate, with hand involvement",
          "multiminicore disease, moderate, with hand involvement",
          "muscle core disease",
          "muscular central core disease",
          "myopathy, central core",
          "myopathy, central fibrillar",
          "neuromuscular disease, congenital, with uniform type 1 Fiber",
          "neuromuscular disease, congenital, with uniform type 1 Fibre"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007294"
    },
    {
      "id": 12202,
      "label": "myofibrillar myopathy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16774,
        16878,
        18865,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080092",
          "DOID:0110286",
          "GARD:0016870",
          "MEDGEN:330449",
          "OMIM:601419",
          "OMIM:615325",
          "Orphanet:363543",
          "Orphanet:98909",
          "UMLS:C1832370"
        ],
        "synonyms": [
          "DES autosomal recessive limb-girdle muscular dystrophy",
          "DES myofibrillar myopathy (disease)",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES",
          "autosomal recessive limb-girdle muscular dystrophy type 2R",
          "desmin-related myofibrillar myopathy",
          "desminopathy",
          "myofibrillar myopathy (disease) caused by mutation in DES",
          "myofibrillar myopathy 1",
          "myofibrillar myopathy type 1",
          "myopathy, myofibrillar, type 1",
          "CMD1F and LGMD1D",
          "CMD1F and LGMD1D, formerly",
          "IBM1",
          "MFM1",
          "arrhythmogenic right ventricular cardiomyopathy 7",
          "arrhythmogenic right ventricular cardiomyopathy 7, formerly",
          "arrhythmogenic right ventricular dysplasia, familial, 7",
          "arrhythmogenic right ventricular dysplasia, familial, 7, formerly",
          "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D",
          "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly",
          "cardiomyopathy, dilated, with conduction defect and muscular dystrophy",
          "desmin-related myopathy",
          "desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy",
          "desminopathy, primary",
          "inclusion body myopathy 1, autosomal dominant",
          "inclusion body myopathy 1, autosomal dominant, formerly",
          "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy",
          "myopathy, myofibrillar, 1",
          "myopathy, myofibrillar, desmin-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011076"
    },
    {
      "id": 13276,
      "label": "myofibrillar myopathy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16083,
        16734,
        18865
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080094",
          "DOID:0110300",
          "GARD:0016871",
          "MEDGEN:811509",
          "MESH:C000598645",
          "MESH:C535906",
          "MESH:C563775",
          "OMIM:159000",
          "OMIM:182920",
          "OMIM:609200",
          "Orphanet:266",
          "Orphanet:268129",
          "Orphanet:98911",
          "SCTID:719985001",
          "SCTID:765092004",
          "SCTID:765196004",
          "UMLS:C3714934"
        ],
        "synonyms": [
          "LGMD1A",
          "MYOT autosomal dominant distal myopathy",
          "MYOT autosomal dominant limb-girdle muscular dystrophy",
          "MYOT-related myofibrillar myopathy",
          "autosomal dominant distal myopathy caused by mutation in MYOT",
          "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT",
          "autosomal dominant limb-girdle muscular dystrophy type 1A",
          "distal myotilinopathy",
          "myofibrillar myopathy type 3",
          "myopathy, myofibrillar, type 3",
          "myotilinopathy",
          "spheroid body myopathy",
          "LGMD1",
          "MFM3",
          "autosomal dominant spheroid body myopathy",
          "limb-girdle muscular dystrophy type 1A",
          "muscular dystrophy, limb-girdle, type 1A",
          "muscular dystrophy, proximal, type 1A",
          "myopathy, myofibrillar, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012215"
    },
    {
      "id": 13336,
      "label": "myofibrillar myopathy 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16734,
        16777,
        18865
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080095",
          "GARD:0001886",
          "MEDGEN:1648314",
          "MESH:C563718",
          "OMIM:609452",
          "Orphanet:98912",
          "UMLS:C4721886"
        ],
        "synonyms": [
          "LDB3 myofibrillar myopathy (disease)",
          "ZASP-related myofibrillar myopathy",
          "myofibrillar myopathy (disease) caused by mutation in LDB3",
          "myofibrillar myopathy type 4",
          "myopathy, myofibrillar, type 4",
          "MFM4",
          "late-onset distal myopathy, Markesbery-Griggs type",
          "myopathy, myofibrillar, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012277"
    },
    {
      "id": 13346,
      "label": "myofibrillar myopathy 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16776,
        18865,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080096",
          "GARD:0017062",
          "MEDGEN:372186",
          "MESH:C537932",
          "OMIM:609524",
          "Orphanet:171445",
          "UMLS:C1836050"
        ],
        "synonyms": [
          "FLNC myofibrillar myopathy (disease)",
          "myofibrillar myopathy (disease) caused by mutation in FLNC",
          "myofibrillar myopathy 5",
          "myofibrillar myopathy type 5",
          "myopathy, myofibrillar, type 5",
          "MFM5",
          "filaminopathy, autosomal dominant",
          "muscle filaminopathy",
          "myopathy, myofibrillar, 5",
          "myopathy, myofibrillar, filamin C-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012289"
    },
    {
      "id": 14099,
      "label": "myofibrillar myopathy 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18865
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080097",
          "GARD:0017096",
          "MEDGEN:414119",
          "MESH:C567843",
          "OMIM:612954",
          "Orphanet:199340",
          "UMLS:C2751831"
        ],
        "synonyms": [
          "BAG3 myofibrillar myopathy (disease)",
          "myofibrillar myopathy (disease) caused by mutation in BAG3",
          "myofibrillar myopathy 6",
          "myofibrillar myopathy type 6",
          "myopathy, myofibrillar, type 6",
          "MFM6",
          "muscular dystrophy, Selcen type",
          "myopathy, myofibrillar, 6",
          "myopathy, myofibrillar, Bag3-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013061"
    },
    {
      "id": 14503,
      "label": "fatal infantile hypertonic myofibrillar myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18865
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080309",
          "GARD:0017296",
          "MEDGEN:1684001",
          "OMIM:613869",
          "Orphanet:280553",
          "UMLS:C5190691"
        ],
        "synonyms": [
          "alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy",
          "fatal infantile hypertonic myofibrillar myopathy",
          "MFM, fatal infantile hypertonic, alpha-B crystallin-related",
          "myofibrillar myopathy type 7",
          "myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013472"
    },
    {
      "id": 15901,
      "label": "myofibrillar myopathy 7",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        18865,
        26613
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080098",
          "GARD:0025034",
          "MEDGEN:934678",
          "OMIM:617114",
          "UMLS:C4310711"
        ],
        "synonyms": [
          "KY myofibrillar myopathy (disease)",
          "alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy",
          "myofibrillar myopathy (disease) caused by mutation in KY",
          "myopathy, myofibrillar, 7",
          "myopathy, myofibrillar, type 7",
          "MFM7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:0014922"
    },
    {
      "id": 15969,
      "label": "myofibrillar myopathy 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18865
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080308",
          "GARD:0025045",
          "MEDGEN:934612",
          "OMIM:617258",
          "UMLS:C4310645"
        ],
        "synonyms": [
          "PYROXD1 myofibrillar myopathy (disease)",
          "myofibrillar myopathy (disease) caused by mutation in PYROXD1",
          "myofibrillar myopathy 8",
          "myopathy, myofibrillar, 8",
          "myopathy, myofibrillar, type 8",
          "MFM8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014993"
    },
    {
      "id": 22132,
      "label": "myofibrillar myopathy 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18865
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081338",
          "GARD:0025664",
          "MEDGEN:1782465",
          "OMIM:619178",
          "UMLS:C5543038"
        ],
        "synonyms": [
          "MFM11",
          "myopathy, congenital, with eccentric cores"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030927"
    },
    {
      "id": 22701,
      "label": "myofibrillar myopathy 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18865
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112108",
          "GARD:0025814",
          "MEDGEN:1769385",
          "OMIM:619040",
          "UMLS:C5436656"
        ],
        "synonyms": [
          "MFM10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033620"
    },
    {
      "id": 25312,
      "label": "myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18865
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051044",
          "GARD:0026661",
          "MEDGEN:1794147",
          "OMIM:619424",
          "UMLS:C5561937"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859168"
    },
    {
      "id": 26189,
      "label": "myopathy, myofibrillar, 13, with rimmed vacuoles",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16221,
        18865
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051045",
          "GARD:0027428",
          "MEDGEN:1799560",
          "OMIM:621078",
          "Orphanet:476093",
          "UMLS:C5568137"
        ],
        "synonyms": [
          "HSPB8-associated autosomal dominant rimmed vacuolar myopathy",
          "HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome",
          "MFM13",
          "autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome",
          "limb-girdle rimmed vacuolar myopathy",
          "rimmed vacuoles myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles."
      },
      "child_count": 0,
      "reference_id": "MONDO:0976133"
    }
  ],
  "roots": [
    {
      "id": 4928,
      "label": "congenital structural myopathy"
    }
  ]
}