{
  "id": 20668,
  "label": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021569",
  "properties": {
    "xrefs": [
      "DOID:0070247",
      "DOID:0110301",
      "GARD:0010230",
      "ICD9:425.4",
      "MEDGEN:98048",
      "MESH:C535898",
      "NCIT:C126745",
      "OMIM:159001",
      "OMIM:181350",
      "Orphanet:264",
      "SCTID:240072005",
      "SCTID:718178006",
      "UMLS:C0410190"
    ],
    "synonyms": [
      "EDMD2",
      "Emery-Dreifuss muscular dystrophy 2, autosomal dominant",
      "Hauptmann-Thannhauser muscular dystrophy",
      "LGMD1B",
      "LMNA autosomal dominant limb-girdle muscular dystrophy",
      "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA",
      "limb-girdle muscular dystrophy due to lamin A/C deficiency",
      "muscular dystrophy, limb-girdle type 1B",
      "proximal muscular dystrophy type 1B",
      "EMD2",
      "Emery-Dreifuss muscular dystrophy, autosomal dominant",
      "benign scapuloperoneal muscular dystrophy with cardiomyopathy",
      "limb-girdle muscular dystrophy type 1B",
      "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant",
      "muscular dystrophy, limb-girdle, type 1B",
      "muscular dystrophy, proximal, type 1B",
      "scapuloilioperoneal atrophy with cardiopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16083,
      "label": "muscular dystrophy, limb-girdle, autosomal dominant",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        17384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110273",
          "GARD:0019824",
          "MEDGEN:1826162",
          "OMIMPS:603511",
          "Orphanet:102014",
          "UMLS:C5675009",
          "icd11.foundation:537908479"
        ],
        "synonyms": [
          "autosomal dominant limb-girdle muscular dystrophy",
          "limb-girdle muscular dystrophy, autosomal dominant",
          "muscular dystrophy, limb-girdle, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of limb-girdle muscular dystrophy."
      },
      "child_count": 16,
      "reference_id": "MONDO:0015151"
    },
    {
      "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": 16083,
      "label": "muscular dystrophy, limb-girdle, autosomal dominant"
    },
    {
      "id": 19804,
      "label": "autosomal dominant Emery-Dreifuss muscular dystrophy"
    }
  ]
}