{
  "id": 10895,
  "label": "Ullrich congenital muscular dystrophy 1A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009681",
  "properties": {
    "xrefs": [
      "DOID:0060946",
      "GARD:0024685",
      "MEDGEN:98046",
      "NANDO:1200215",
      "OMIM:254090",
      "UMLS:C0410179"
    ],
    "synonyms": [
      "Ullrich congenital muscular dystrophy type 1",
      "Ullrich congenital muscular dystrophy 1",
      "UCMD1",
      "Ullrich Scleroatonic muscular dystrophy",
      "Ullrich congenital muscular dystrophy",
      "Ullrich disease",
      "muscular dystrophy, Scleroatonic"
    ],
    "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"
    },
    {
      "id": 23966,
      "label": "collagen 6-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012705"
        ],
        "synonyms": [
          "collagen 6-related myopathy",
          "collagen VI-related dystrophy",
          "collagen VI-related muscle disorder",
          "collagen VI-related muscular dystrophy",
          "collagen VI-related myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100225"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2862,
      "label": "Ullrich congenital muscular dystrophy"
    },
    {
      "id": 23966,
      "label": "collagen 6-related myopathy"
    }
  ]
}