{
  "id": 12871,
  "label": "autosomal recessive limb-girdle muscular dystrophy type 2I",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011787",
  "properties": {
    "xrefs": [
      "DOID:0110299",
      "GARD:0012533",
      "MEDGEN:339580",
      "MESH:C564612",
      "NCIT:C126739",
      "OMIM:607155",
      "Orphanet:34515",
      "SCTID:718180000",
      "UMLS:C1846672"
    ],
    "synonyms": [
      "FKRP autosomal recessive limb-girdle muscular dystrophy",
      "LGMD-FKRP related",
      "LGMD2I",
      "MDDGC5",
      "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP",
      "limb-girdle muscular dystrophy due to FKRP deficiency",
      "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5",
      "muscular dystrophy-dystroglycanopathy (limb-girdle), type C5",
      "limb-girdle muscular dystrophy type 2I",
      "muscular dystrophy, limb-girdle, type 2I",
      "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5",
      "muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported."
  },
  "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": 16756,
      "label": "qualitative or quantitative defects of FKRP",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020403",
          "MEDGEN:1842706",
          "Orphanet:207119",
          "UMLS:C5680827"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016156"
    },
    {
      "id": 24462,
      "label": "myopathy caused by variation in FKRP",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        17974,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026339"
        ],
        "synonyms": [
          "FKRP myopathy",
          "FKRP-related myopathy",
          "myopathy caused by mutation in FKRP"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any myopathy in which the cause of the disease is a variation in the FKRP gene."
      },
      "child_count": 9,
      "reference_id": "MONDO:0700066"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy"
    },
    {
      "id": 16756,
      "label": "qualitative or quantitative defects of FKRP"
    },
    {
      "id": 24462,
      "label": "myopathy caused by variation in FKRP"
    }
  ]
}