{
  "id": 13346,
  "label": "myofibrillar myopathy 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012289",
  "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."
  },
  "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": 16776,
      "label": "qualitative or quantitative defects of filamin C",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16773
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020428",
          "MEDGEN:1843024",
          "Orphanet:209047",
          "UMLS:C5680841"
        ],
        "synonyms": [
          "qualitative or quantitative defects of filamin type C"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0016189"
    },
    {
      "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": 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": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16776,
      "label": "qualitative or quantitative defects of filamin C"
    },
    {
      "id": 18865,
      "label": "myofibrillar myopathy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}