{
  "id": 12202,
  "label": "myofibrillar myopathy 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011076",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16774,
      "label": "qualitative or quantitative defects of desmin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16773,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020426",
          "MEDGEN:1842905",
          "Orphanet:209041",
          "UMLS:C5680839"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 10,
      "reference_id": "MONDO:0016187"
    },
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6757,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020525",
          "MEDGEN:90951",
          "MESH:C536231",
          "OMIMPS:115200",
          "Orphanet:217607",
          "UMLS:C0340427",
          "icd11.foundation:423719003"
        ],
        "synonyms": [
          "hereditary dilated cardiomyopathy",
          "DCM",
          "dilated cardiomyopathy, familial",
          "hypokinetic dilated cardiomyopathy, familial",
          "idiopathic dilated cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure."
      },
      "child_count": 58,
      "reference_id": "MONDO:0016333"
    },
    {
      "id": 18865,
      "label": "myofibrillar myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4928
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 13,
      "reference_id": "MONDO:0018943"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18957,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026275"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness."
      },
      "child_count": 44,
      "reference_id": "MONDO:0100546"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16774,
      "label": "qualitative or quantitative defects of desmin"
    },
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy"
    },
    {
      "id": 18865,
      "label": "myofibrillar myopathy"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease"
    }
  ]
}