{
  "id": 2862,
  "label": "Ullrich congenital muscular dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000355",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 19667,
      "label": "congenital muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050557",
          "GARD:0009138",
          "ICD9:359.0",
          "MEDGEN:147063",
          "Orphanet:97242",
          "SCTID:240059009",
          "UMLS:C0699743",
          "icd11.foundation:396687076"
        ],
        "synonyms": [
          "CMD",
          "MDC",
          "congenital MD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted."
      },
      "child_count": 46,
      "reference_id": "MONDO:0019950"
    },
    {
      "id": 19669,
      "label": "congenital myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080100",
          "DOID:0081337",
          "GARD:0005898",
          "MEDGEN:124381",
          "MedDRA:10062547",
          "NANDO:1200477",
          "NANDO:2100234",
          "OMIMPS:117000",
          "Orphanet:97245",
          "UMLS:C0270960",
          "icd11.foundation:1185572073"
        ],
        "synonyms": [
          "congenital myopathy",
          "Batten Turner congenital myopathy",
          "myopathy congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 106,
      "reference_id": "MONDO:0019952"
    }
  ],
  "children": [
    {
      "id": 10895,
      "label": "Ullrich congenital muscular dystrophy 1A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2862,
        23966
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009681"
    },
    {
      "id": 15650,
      "label": "Ullrich congenital muscular dystrophy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2862
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060948",
          "GARD:0016120",
          "MEDGEN:899150",
          "OMIM:616470",
          "UMLS:C4225314"
        ],
        "synonyms": [
          "COL12A1 Ullrich congenital muscular dystrophy",
          "Ullrich congenital muscular dystrophy 2",
          "Ullrich congenital muscular dystrophy caused by mutation in COL12A1",
          "Ullrich congenital muscular dystrophy type 2",
          "UCMD2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014654"
    },
    {
      "id": 25889,
      "label": "Ullrich congenital muscular dystrophy 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2862
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060942",
          "GARD:0026982",
          "MEDGEN:1859300",
          "OMIM:620727",
          "UMLS:C5935582"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958235"
    },
    {
      "id": 25890,
      "label": "Ullrich congenital muscular dystrophy 1C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2862
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958236"
    }
  ],
  "roots": [
    {
      "id": 19667,
      "label": "congenital muscular dystrophy"
    },
    {
      "id": 19669,
      "label": "congenital myopathy"
    }
  ]
}