{
  "id": 14423,
  "label": "autosomal recessive limb-girdle muscular dystrophy type 2Q",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013390",
  "properties": {
    "xrefs": [
      "DOID:0110285",
      "GARD:0012542",
      "MEDGEN:462339",
      "OMIM:613723",
      "Orphanet:254361",
      "UMLS:C3150989"
    ],
    "synonyms": [
      "LGMD2Q",
      "muscular dystrophy, limb-girdle, autosomal recessive 17",
      "muscular dystrophy, limb-girdle, type 2Q",
      "limb-girdle muscular dystrophy type 2Q"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        17384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110274",
          "GARD:0019825",
          "MEDGEN:419194",
          "MESH:C538640",
          "OMIMPS:253600",
          "Orphanet:102015",
          "UMLS:C2931907",
          "icd11.foundation:319162980"
        ],
        "synonyms": [
          "autosomal recessive limb-girdle muscular dystrophy",
          "limb-girdle muscular dystrophy, autosomal recessive",
          "muscular dystrophy, limb-girdle, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of limb-girdle muscular dystrophy."
      },
      "child_count": 64,
      "reference_id": "MONDO:0015152"
    },
    {
      "id": 16784,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of plectin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020437",
          "MEDGEN:1842345",
          "Orphanet:209196",
          "UMLS:C5680835"
        ],
        "synonyms": [
          "PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder",
          "qualitative or quantitative defects of plectin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neuromuscular disease caused by the qualitative or quantitative defects of plectin. It is characterized by muscular dystrophy."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016198"
    },
    {
      "id": 29296,
      "label": "PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder",
          "qualitative or quantitative defects of plectin"
        ],
        "definition": "A spectrum of disease associated with loss or disrupted function of the PLEC gene. These disorders primarily affect the skin and muscles, leading to a range of symptoms including skin blistering (EBS), progressive muscle weakness (muscular dystrophy), and other complications."
      },
      "child_count": 4,
      "reference_id": "MONDO:1060109"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy"
    },
    {
      "id": 16784,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of plectin"
    },
    {
      "id": 29296,
      "label": "PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder"
    }
  ]
}