{
  "id": 23966,
  "label": "collagen 6-related myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100225",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 7023,
      "label": "myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:423",
          "EFO:0004145",
          "ICD9:359.8",
          "ICD9:359.9",
          "ICD9:728.3",
          "MEDGEN:10135",
          "NCIT:C101216",
          "SCTID:129565002",
          "UMLS:C0026848",
          "icd11.foundation:1870184184"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness."
      },
      "child_count": 32,
      "reference_id": "MONDO:0005336"
    },
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020388",
          "MEDGEN:1842598",
          "Orphanet:207049",
          "UMLS:C5680807"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0016139"
    }
  ],
  "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": 10927,
      "label": "myosclerosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23966,
        24270,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027790",
          "MEDGEN:338098",
          "MESH:C564968",
          "MedDRA:10064584",
          "OMIM:255600",
          "Orphanet:289380",
          "SCTID:763895001",
          "UMLS:C1850671",
          "icd11.foundation:2105106550"
        ],
        "synonyms": [
          "congenital myosclerosis, LC6wenthal type",
          "congenital myosclerosis, Löwenthal type",
          "myosclerosis, congenital",
          "myopathy, myosclerotic",
          "myosclerosis, autosomal recessive",
          "myosclerosis, congenital, of Lowenthal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009714"
    },
    {
      "id": 21476,
      "label": "Bethlem myopathy 1A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9355,
        23966
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061198",
          "GARD:0025413",
          "OMIM:158810"
        ],
        "synonyms": [
          "Bethlem myopathy 1",
          "BTHLM1",
          "Bethlem myopathy",
          "muscular dystrophy, benign congenital",
          "myopathy, benign congenital, with contractures"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0024530"
    }
  ],
  "roots": [
    {
      "id": 7023,
      "label": "myopathy"
    },
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases"
    }
  ]
}