{
  "id": 21476,
  "label": "Bethlem myopathy 1A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024530",
  "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"
      }
    ]
  },
  "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"
    },
    {
      "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": 9355,
      "label": "Bethlem myopathy"
    },
    {
      "id": 23966,
      "label": "collagen 6-related myopathy"
    }
  ]
}