{
  "id": 25888,
  "label": "Bethlem myopathy 1C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0958234",
  "properties": {
    "xrefs": [
      "DOID:0061200",
      "GARD:0026981",
      "MEDGEN:1854240",
      "OMIM:620726",
      "UMLS:C5935581"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9355,
      "label": "Bethlem myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16732,
        19667,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050663",
          "GARD:0000873",
          "MEDGEN:331805",
          "MESH:C535436",
          "NANDO:1200220",
          "NCIT:C126688",
          "OMIMPS:158810",
          "Orphanet:610",
          "SCTID:718572004",
          "UMLS:C1834674",
          "icd11.foundation:72734329"
        ],
        "synonyms": [
          "Bethlem myopathy type 1",
          "benign autosomal dominant myopathy",
          "BTHLM1",
          "Bethlem myopathy 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles."
      },
      "child_count": 12,
      "reference_id": "MONDO:0008029"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9355,
      "label": "Bethlem myopathy"
    }
  ]
}