{
  "id": 14699,
  "label": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013677",
  "properties": {
    "xrefs": [
      "DOID:0070252",
      "GARD:0018208",
      "MEDGEN:765974",
      "OMIM:614302",
      "UMLS:C3553060"
    ],
    "synonyms": [
      "Emery-Dreifuss muscular dystrophy 7, autosomal dominant",
      "TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy",
      "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43",
      "EDMD7",
      "EMERY-Dreifuss muscular dystrophy 7, autosomal dominant",
      "Ehlers-Danlos syndrome, classic-like, 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19804,
      "label": "autosomal dominant Emery-Dreifuss muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        17256,
        20345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016865",
          "Orphanet:98853",
          "icd11.foundation:15480497"
        ],
        "synonyms": [
          "Emery-Dreifuss muscular dystrophy, autosomal dominant",
          "autosomal dominant Emery-Dreifuss muscular dystrophy",
          "EDMD2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of Emery-Dreifuss muscular dystrophy."
      },
      "child_count": 12,
      "reference_id": "MONDO:0020336"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19804,
      "label": "autosomal dominant Emery-Dreifuss muscular dystrophy"
    }
  ]
}