{
  "id": 25890,
  "label": "Ullrich congenital muscular dystrophy 1C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0958236",
  "properties": {
    "xrefs": [
      "DOID:0060943",
      "GARD:0026983",
      "MEDGEN:1862699",
      "OMIM:620728",
      "UMLS:C5935583"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2862,
      "label": "Ullrich congenital muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19667,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050558",
          "GARD:0004769",
          "MEDGEN:1642667",
          "MESH:C537521",
          "NANDO:1200215",
          "NANDO:2200862",
          "NCIT:C123438",
          "OMIMPS:254090",
          "Orphanet:75840",
          "SCTID:240062007",
          "UMLS:C4551860",
          "icd11.foundation:1011547453"
        ],
        "synonyms": [
          "UCMD",
          "Ullrich scleroatonic muscular dystrophy",
          "scleroatonic Ullrich disease",
          "scleroatonic muscular dystrophy",
          "Ullrich disease",
          "congenital muscular dystrophy, Ullrich type",
          "late onset scleroatonic familial myopathy (subtype)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence."
      },
      "child_count": 8,
      "reference_id": "MONDO:0000355"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2862,
      "label": "Ullrich congenital muscular dystrophy"
    }
  ]
}