{
  "id": 15671,
  "label": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014676",
  "properties": {
    "xrefs": [
      "DOID:0070248",
      "GARD:0018209",
      "MEDGEN:413212",
      "MESH:C567633",
      "OMIM:616516",
      "Orphanet:98855",
      "UMLS:C2750035"
    ],
    "synonyms": [
      "Emery-Dreifuss muscular dystrophy 3, autosomal recessive",
      "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy",
      "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA",
      "EDMD3",
      "EMERY-Dreifuss muscular dystrophy 3, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": [],
  "roots": [
    {
      "id": 17256,
      "label": "Emery-Dreifuss muscular dystrophy"
    },
    {
      "id": 20345,
      "label": "laminopathy"
    }
  ]
}