{
  "id": 17256,
  "label": "Emery-Dreifuss muscular dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016830",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 16732,
      "label": "progressive muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020360",
          "MEDGEN:1633060",
          "Orphanet:206644",
          "UMLS:C4551827"
        ],
        "synonyms": [
          "progressive muscular dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 13,
      "reference_id": "MONDO:0016106"
    },
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6757,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020525",
          "MEDGEN:90951",
          "MESH:C536231",
          "OMIMPS:115200",
          "Orphanet:217607",
          "UMLS:C0340427",
          "icd11.foundation:423719003"
        ],
        "synonyms": [
          "hereditary dilated cardiomyopathy",
          "DCM",
          "dilated cardiomyopathy, familial",
          "hypokinetic dilated cardiomyopathy, familial",
          "idiopathic dilated cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure."
      },
      "child_count": 58,
      "reference_id": "MONDO:0016333"
    }
  ],
  "children": [
    {
      "id": 3107,
      "label": "scapuloperoneal myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060253",
          "GARD:0022820",
          "MEDGEN:419759",
          "MESH:C536624",
          "UMLS:C2931268"
        ],
        "synonyms": [
          "myopathy, scapuloperoneal",
          "scapuloperoneal syndrome, myopathic type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm."
      },
      "child_count": 2,
      "reference_id": "MONDO:0000727"
    },
    {
      "id": 11825,
      "label": "X-linked Emery-Dreifuss muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        17256,
        20345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002102",
          "MEDGEN:148284",
          "MESH:D000083143",
          "Orphanet:98863",
          "UMLS:C0751337",
          "icd11.foundation:516501338"
        ],
        "synonyms": [
          "Emerinopathy",
          "Emery-Dreifuss muscular dystrophy, X-linked",
          "X-linked Emery-Dreifuss muscular dystrophy",
          "muscular dystrophy, tardive Emery-Dreifuss type, with contractures",
          "muscular dystrophy, tardive, Dreifuss-Emery type, with contractures"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked form of Emery-Dreifuss muscular dystrophy."
      },
      "child_count": 9,
      "reference_id": "MONDO:0010680"
    },
    {
      "id": 15671,
      "label": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17256,
        20345
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014676"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 16732,
      "label": "progressive muscular dystrophy"
    },
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy"
    }
  ]
}