{
  "id": 9355,
  "label": "Bethlem myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008029",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 16732,
      "label": "progressive muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020360",
          "MEDGEN:1633060",
          "Orphanet:206644",
          "UMLS:C4551827"
        ],
        "synonyms": [
          "progressive muscular dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 13,
      "reference_id": "MONDO:0016106"
    },
    {
      "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": 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"
    },
    {
      "id": 22764,
      "label": "Bethlem myopathy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9355,
        19720
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061201",
          "GARD:0016121",
          "MEDGEN:907426",
          "OMIM:616471",
          "Orphanet:536516",
          "UMLS:C4225313"
        ],
        "synonyms": [
          "BTHLM2",
          "Bethlem myopathy 2",
          "Bethlem myopathy caused by mutation in COL12A1",
          "Bethlem myopathy type 2",
          "COL12A1 Bethlem myopathy",
          "EDS, myopathic type",
          "Ehlers-Danlos syndrome, myopathic type",
          "myopathic EDS",
          "myopathic Ehlers-Danlos syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0034022"
    },
    {
      "id": 25887,
      "label": "Bethlem myopathy 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061199",
          "GARD:0026980",
          "MEDGEN:1859128",
          "OMIM:620725",
          "UMLS:C5935580"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958233"
    },
    {
      "id": 25888,
      "label": "Bethlem myopathy 1C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061200",
          "GARD:0026981",
          "MEDGEN:1854240",
          "OMIM:620726",
          "UMLS:C5935581"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958234"
    }
  ],
  "roots": [
    {
      "id": 16732,
      "label": "progressive muscular dystrophy"
    },
    {
      "id": 19667,
      "label": "congenital muscular dystrophy"
    },
    {
      "id": 19669,
      "label": "congenital myopathy"
    }
  ]
}