{
  "id": 11825,
  "label": "X-linked Emery-Dreifuss muscular dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010680",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "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": 11562,
      "label": "X-linked myopathy with postural muscle atrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11825,
        25048
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070251",
          "GARD:0017081",
          "MEDGEN:395525",
          "OMIM:300696",
          "Orphanet:178461",
          "UMLS:C2678055",
          "icd11.foundation:420677690"
        ],
        "synonyms": [
          "X-linked myopathy with postural muscle atrophy",
          "XMPMA",
          "myopathy, X-linked, with postural muscle atrophy, X-linked recessive",
          "Ehlers-Danlos syndrome, classic-like, 1",
          "Emery-Dreifuss muscular dystrophy 6, X-linked",
          "myopathy, X-linked, with postural muscle atrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010401"
    },
    {
      "id": 24256,
      "label": "Emery-Dreifuss muscular dystrophy 1, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11825
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070246",
          "GARD:0026265",
          "MEDGEN:1720295",
          "NCIT:C168730",
          "OMIM:310300",
          "UMLS:C5243475"
        ],
        "synonyms": [
          "EDMD1",
          "EMD1",
          "Emery-Dreifuss muscular dystrophy 1, X-linked",
          "Ehlers-Danlos syndrome, classic-like, 1",
          "Humeroperoneal neuromuscular disease",
          "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0100531"
    },
    {
      "id": 24919,
      "label": "Emery-Dreifuss muscular dystrophy 6, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11825
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026499",
          "MEDGEN:440709",
          "UMLS:C2749106"
        ],
        "synonyms": [
          "EDMD6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800318"
    }
  ],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 17256,
      "label": "Emery-Dreifuss muscular dystrophy"
    },
    {
      "id": 20345,
      "label": "laminopathy"
    }
  ]
}