{
  "id": 13102,
  "label": "autosomal dominant limb-girdle muscular dystrophy type 1F",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012034",
  "properties": {
    "xrefs": [
      "DOID:0110304",
      "GARD:0012530",
      "MEDGEN:333983",
      "MESH:C564242",
      "OMIM:608423",
      "Orphanet:55595",
      "SCTID:719989007",
      "UMLS:C1842062"
    ],
    "synonyms": [
      "LGMD1F",
      "muscular dystrophy, limb-girdle, autosomal dominant 2",
      "limb-girdle muscular dystrophy type 1F",
      "muscular dystrophy, limb-girdle, type 1F"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16083,
      "label": "muscular dystrophy, limb-girdle, autosomal dominant",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        17384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110273",
          "GARD:0019824",
          "MEDGEN:1826162",
          "OMIMPS:603511",
          "Orphanet:102014",
          "UMLS:C5675009",
          "icd11.foundation:537908479"
        ],
        "synonyms": [
          "autosomal dominant limb-girdle muscular dystrophy",
          "limb-girdle muscular dystrophy, autosomal dominant",
          "muscular dystrophy, limb-girdle, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of limb-girdle muscular dystrophy."
      },
      "child_count": 16,
      "reference_id": "MONDO:0015151"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16083,
      "label": "muscular dystrophy, limb-girdle, autosomal dominant"
    }
  ]
}