{
  "id": 10890,
  "label": "autosomal recessive limb-girdle muscular dystrophy type 2B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009676",
  "properties": {
    "xrefs": [
      "DOID:0110276",
      "GARD:0008574",
      "MEDGEN:338149",
      "MESH:C535899",
      "NCIT:C142080",
      "OMIM:253601",
      "Orphanet:268",
      "SCTID:718179003",
      "UMLS:C1850889"
    ],
    "synonyms": [
      "DYSF autosomal recessive limb-girdle muscular dystrophy",
      "LGMD2B",
      "LGMD3",
      "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF",
      "limb-girdle muscular dystrophy due to dysferlin deficiency",
      "limb-girdle muscular dystrophy type 2B",
      "muscular dystrophy, limb-girdle, autosomal recessive 2",
      "limb-girdle muscular dystrophy, type 2B",
      "muscular dystrophy, limb-girdle, type 2B",
      "muscular dystrophy, limb-girdle, type 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed."
  },
  "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": 16750,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of dysferlin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002003",
          "MEDGEN:419874",
          "MESH:C537995",
          "Orphanet:207073",
          "UMLS:C2931687"
        ],
        "synonyms": [
          "dysferlinopathy",
          "qualitative or quantitative defects of dysferlin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0016145"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy"
    },
    {
      "id": 16750,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of dysferlin"
    }
  ]
}