{
  "id": 18873,
  "label": "distal myopathy with vocal cord weakness",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018951",
  "properties": {
    "xrefs": [
      "GARD:0001887",
      "MEDGEN:342950",
      "Orphanet:600",
      "UMLS:C1853723",
      "icd11.foundation:1133125258"
    ],
    "synonyms": [
      "MATR3-related distal myopathy",
      "VCPDM",
      "MPD2",
      "distal myopathy 2",
      "vocal cord and pharyngeal distal myopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16734,
      "label": "autosomal dominant distal myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        18871
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020361",
          "MEDGEN:1826097",
          "Orphanet:206650",
          "UMLS:C5680803"
        ],
        "synonyms": [
          "distal myopathy, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of distal myopathy."
      },
      "child_count": 30,
      "reference_id": "MONDO:0016108"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16734,
      "label": "autosomal dominant distal myopathy"
    }
  ]
}