{
  "id": 10889,
  "label": "autosomal recessive limb-girdle muscular dystrophy type 2A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009675",
  "properties": {
    "xrefs": [
      "DOID:0110275",
      "GARD:0001057",
      "MEDGEN:358391",
      "MESH:C535895",
      "NCIT:C142079",
      "OMIM:253600",
      "Orphanet:267",
      "SCTID:715341003",
      "UMLS:C1869123"
    ],
    "synonyms": [
      "CAPN3 autosomal recessive limb-girdle muscular dystrophy",
      "LGMD2A",
      "Leyden-Moebius muscular dystrophy",
      "autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3",
      "autosomal recessive limb-girdle muscular dystrophy type 2A",
      "calpainopathy",
      "limb-girdle muscular dystrophy due to calpain deficiency",
      "limb-girdle muscular dystrophy type 2A",
      "muscular dystrophy, limb-girdle, autosomal recessive 1",
      "muscular dystrophy, limb-girdle, type 2A",
      "primary calpainopathy",
      "LGMD2",
      "limb-girdle muscular dystrophy type 2",
      "muscular dystrophy limb girdle type 2A, erb type",
      "muscular dystrophy, Pelvofemoral",
      "muscular dystrophy, limb-girdle, type 2",
      "myositis, eosinophilic"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy"
    }
  ]
}