{
  "id": 19804,
  "label": "autosomal dominant Emery-Dreifuss muscular dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020336",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 17256,
      "label": "Emery-Dreifuss muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16732,
        16878
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11726",
          "GARD:0006329",
          "MEDGEN:96078",
          "MESH:D020389",
          "NANDO:1200492",
          "NANDO:2200857",
          "NCIT:C84685",
          "NORD:1084",
          "OMIMPS:310300",
          "Orphanet:261",
          "SCTID:111508004",
          "UMLS:C0410189",
          "icd11.foundation:749295636"
        ],
        "synonyms": [
          "EDMD",
          "Emery Dreifuss Muscular Dystrophy",
          "Emery-Dreifuss muscular dystrophy",
          "Humeroperoneal neuromuscular disease, (formerly)",
          "scapuloperoneal syndrome, X-linked (formerly)"
        ],
        "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 (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy."
      },
      "child_count": 8,
      "reference_id": "MONDO:0016830"
    },
    {
      "id": 20345,
      "label": "laminopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019444",
          "MEDGEN:1716073",
          "MESH:D000083083",
          "Orphanet:98301",
          "UMLS:C5392094"
        ],
        "definition": "A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina."
      },
      "child_count": 14,
      "reference_id": "MONDO:0021106"
    }
  ],
  "children": [
    {
      "id": 14109,
      "label": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070249",
          "GARD:0018206",
          "MEDGEN:414476",
          "MESH:C567831",
          "OMIM:612998",
          "UMLS:C2751807"
        ],
        "synonyms": [
          "Emery-Dreifuss muscular dystrophy 4, autosomal dominant",
          "SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy",
          "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1",
          "EDMD4",
          "EMERY-Dreifuss muscular dystrophy 4, autosomal dominant",
          "Emery-Dreifuss muscular dystrophy 4 with variable features"
        ],
        "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 SYNE1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013071"
    },
    {
      "id": 14110,
      "label": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070250",
          "GARD:0018207",
          "MEDGEN:414111",
          "OMIM:612999",
          "UMLS:C2751805"
        ],
        "synonyms": [
          "Emery-Dreifuss muscular dystrophy 5, autosomal dominant",
          "SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy",
          "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2",
          "EDMD5",
          "EMERY-Dreifuss muscular dystrophy 5, autosomal dominant"
        ],
        "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 SYNE2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013072"
    },
    {
      "id": 14699,
      "label": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19804
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013677"
    },
    {
      "id": 20668,
      "label": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16083,
        19804
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0021569"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 17256,
      "label": "Emery-Dreifuss muscular dystrophy"
    },
    {
      "id": 20345,
      "label": "laminopathy"
    }
  ]
}