{
  "id": 9357,
  "label": "facioscapulohumeral muscular dystrophy 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008031",
  "properties": {
    "xrefs": [
      "DOID:0111193",
      "GARD:0015088",
      "MEDGEN:320405",
      "MESH:C563557",
      "NCIT:C172705",
      "OMIM:158901",
      "UMLS:C1834671"
    ],
    "synonyms": [
      "SMCHD1 facioscapulohumeral muscular dystrophy",
      "facioscapulohumeral muscular dystrophy 2",
      "facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1",
      "facioscapulohumeral muscular dystrophy type 2",
      "fascioscapulohumeral muscular dystrophy 2, digenic, digenic dominant",
      "FSHD2",
      "Fshd2, digenic",
      "facioscapulohumeral muscular dystrophy 2, digenic",
      "muscular dystrophy, facioscapulohumeral, type 1B",
      "muscular dystrophy, facioscapulohumeral, type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3573,
      "label": "facioscapulohumeral muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16732
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11727",
          "GARD:0009941",
          "ICD10CM:G71.02",
          "MEDGEN:65956",
          "MESH:D020391",
          "MedDRA:10064087",
          "NANDO:1200491",
          "NANDO:2200859",
          "NCIT:C84704",
          "NORD:1116",
          "OMIMPS:158900",
          "Orphanet:269",
          "SCTID:399091004",
          "UMLS:C0238288",
          "icd11.foundation:621965073"
        ],
        "synonyms": [
          "FSH dystrophy",
          "FSHD",
          "facioscapulohumeral dystrophy",
          "facioscapulohumeral muscular dystrophy",
          "facioscapulohumeral myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well."
      },
      "child_count": 5,
      "reference_id": "MONDO:0001347"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3573,
      "label": "facioscapulohumeral muscular dystrophy"
    }
  ]
}