{
  "id": 22764,
  "label": "Bethlem myopathy 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0034022",
  "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"
      }
    ]
  },
  "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": 19720,
      "label": "Ehlers-Danlos syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13359",
          "GARD:0006322",
          "ICD10CM:Q79.6",
          "ICD9:756.83",
          "MEDGEN:41720",
          "MESH:D004535",
          "MedDRA:10014316",
          "NANDO:1200645",
          "NANDO:2200607",
          "NCIT:C34568",
          "NORD:1080",
          "OMIMPS:130000",
          "Orphanet:98249",
          "SCTID:398114001",
          "UMLS:C0013720",
          "icd11.foundation:1122707206"
        ],
        "synonyms": [
          "Danlos Disease, Ehlers",
          "Danlos disease",
          "Disease, Ehlers Danlos",
          "Disease, Ehlers-Danlos",
          "Dystrophia mesodermalis congenita",
          "EDS",
          "Ehler Danlos Syndrome",
          "Ehlers Danlos Disease",
          "Ehlers Danlos Syndrome",
          "Ehlers Danlos syndrome",
          "Ehlers-Danlos Disease",
          "Ehlers-Danlos syndromes",
          "Fibrodysplasia elastica generalisata",
          "Hereditary collagen dysplasia",
          "Meekeren-Ehlers-Danlos syndrome",
          "Syndrome, Ehlers-Danlos",
          "danlos ehlers syndrome",
          "elastic skin",
          "skin elastic",
          "ED syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility."
      },
      "child_count": 75,
      "reference_id": "MONDO:0020066"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9355,
      "label": "Bethlem myopathy"
    },
    {
      "id": 19720,
      "label": "Ehlers-Danlos syndrome"
    }
  ]
}