{
  "id": 13255,
  "label": "autosomal dominant limb-girdle muscular dystrophy type 1G",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012193",
  "properties": {
    "xrefs": [
      "DOID:0110306",
      "GARD:0012531",
      "MEDGEN:322993",
      "MESH:C563794",
      "OMIM:609115",
      "Orphanet:55596",
      "SCTID:719990003",
      "UMLS:C1836765"
    ],
    "synonyms": [
      "HNRNPDL autosomal dominant limb-girdle muscular dystrophy",
      "LGMD1G",
      "autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL",
      "muscular dystrophy, limb-girdle, autosomal dominant 3",
      "limb-girdle muscular dystrophy type 1G",
      "limb-girdle muscular dystrophy, type 1G"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are 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"
    }
  ]
}