{
  "id": 20269,
  "label": "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021018",
  "properties": {
    "xrefs": [
      "DOID:0110305",
      "GARD:0012528",
      "MEDGEN:1648441",
      "MESH:C566370",
      "OMIM:603511",
      "Orphanet:34516",
      "UMLS:C4721885"
    ],
    "synonyms": [
      "DNAJB6 autosomal dominant limb-girdle muscular dystrophy",
      "LGMD1D",
      "LGMD1D (DNAJB6)",
      "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6",
      "muscular dystrophy, limb-girdle, autosomal dominant 1",
      "LGMD1E",
      "LGMD1E (Bushby and Beckmann, 2003)",
      "autosomal dominant limb-girdle muscular dystrophy type 1D",
      "autosomal dominant limb-girdle muscular dystrophy type 1E",
      "limb-girdle muscular dystrophy type 1D",
      "muscular dystrophy limb-girdle type 1D",
      "muscular dystrophy limb-girdle type 1E",
      "muscular dystrophy, limb-girdle, type 1D",
      "muscular dystrophy, limb-girdle, type 1D, formerly",
      "muscular dystrophy, limb-girdle, type 1E"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3."
  },
  "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"
    }
  ]
}