{
  "id": 16776,
  "label": "qualitative or quantitative defects of filamin C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016189",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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"
    }
  ],
  "children": [
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 16773,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins"
    }
  ]
}