{
  "id": 9356,
  "label": "facioscapulohumeral muscular dystrophy 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008030",
  "properties": {
    "xrefs": [
      "DOID:0111192",
      "GARD:0015087",
      "MEDGEN:1727901",
      "MESH:C536391",
      "NCIT:C172704",
      "OMIM:158900",
      "UMLS:C5399970"
    ],
    "synonyms": [
      "FSHD",
      "FSHD1",
      "FSHD1A",
      "Landouzy-Dejerine muscular dystrophy",
      "facioscapulohumeral muscular dystrophy 1",
      "facioscapulohumeral muscular dystrophy 1A",
      "facioscapulohumeral muscular dystrophy type 1",
      "muscular dystrophy, facioscapulohumeral, type 1A",
      "Landouzy-Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included",
      "facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles",
      "facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included",
      "facioscapulohumeral muscular dystrophy, infantile",
      "muscular dystrophy, facioscapulohumeral, type 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any facioscapulohumeral muscular dystrophy associated with contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35."
  },
  "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"
    }
  ]
}