{
  "id": 16774,
  "label": "qualitative or quantitative defects of desmin",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016187",
  "properties": {
    "xrefs": [
      "GARD:0020426",
      "MEDGEN:1842905",
      "Orphanet:209041",
      "UMLS:C5680839"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 16773,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020425",
          "MEDGEN:1842566",
          "Orphanet:209038",
          "UMLS:C5680851"
        ],
        "synonyms": [
          "qualitative or quantitative defects of myofibrillar proteins"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0016186"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "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 characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 9704,
      "label": "neurogenic scapuloperoneal syndrome, Kaeser type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16774,
        21302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111551",
          "GARD:0010312",
          "MEDGEN:356670",
          "MESH:C566695",
          "OMIM:181400",
          "Orphanet:85146",
          "UMLS:C1867005"
        ],
        "synonyms": [
          "Kaeser syndrome",
          "stark-Kaeser syndrome",
          "SCPNK",
          "scapuloperoneal syndrome, neurogenic type, of Kaeser",
          "scapuloperoneal syndrome, neurogenic, Kaeser type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008407"
    },
    {
      "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": 12584,
      "label": "dilated cardiomyopathy 1I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16774,
        24709
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110431",
          "GARD:0015372",
          "MEDGEN:387998",
          "MESH:C565752",
          "OMIM:604765",
          "UMLS:C1858154"
        ],
        "synonyms": [
          "CMD1I",
          "DES familial isolated dilated cardiomyopathy",
          "cardiomyopathy, dilated, type 1I",
          "dilated cardiomyopathy type 1I",
          "familial isolated dilated cardiomyopathy caused by mutation in DES",
          "cardiomyopathy, dilated, 1I"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011482"
    },
    {
      "id": 18258,
      "label": "autosomal dominant limb-girdle muscular dystrophy type 1E (DES)",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16083,
        16774
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012529",
          "MEDGEN:929970",
          "Orphanet:34517",
          "UMLS:C4304301"
        ],
        "synonyms": [
          "LGMD1E",
          "limb-girdle muscular dystrophy type 1E"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018098"
    },
    {
      "id": 19668,
      "label": "rigid spine syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16774,
        16783,
        19667
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004723",
          "MESH:C535683",
          "Orphanet:97244",
          "icd11.foundation:801727141"
        ],
        "synonyms": [
          "rigid spine congenital muscular dystrophy",
          "desmin-related myopathies with Mallory bodies",
          "muscular dystrophy, congenital, merosin positive with early spine rigidity",
          "rigid spine muscular dystrophy-1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency."
      },
      "child_count": 3,
      "reference_id": "MONDO:0019951"
    }
  ],
  "roots": [
    {
      "id": 16773,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}