{
  "id": 24462,
  "label": "myopathy caused by variation in FKRP",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700066",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 7023,
      "label": "myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:423",
          "EFO:0004145",
          "ICD9:359.8",
          "ICD9:359.9",
          "ICD9:728.3",
          "MEDGEN:10135",
          "NCIT:C101216",
          "SCTID:129565002",
          "UMLS:C0026848",
          "icd11.foundation:1870184184"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness."
      },
      "child_count": 32,
      "reference_id": "MONDO:0005336"
    },
    {
      "id": 17974,
      "label": "disorder of protein O-glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168,
        23506
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021336",
          "MEDGEN:1842631",
          "Orphanet:309447",
          "UMLS:C5681041",
          "icd11.foundation:1883085871"
        ],
        "synonyms": [
          "disorder of protein O-linked glycosylation",
          "protein O-linked glycosylation disease"
        ],
        "definition": "A disease that has its basis in the disruption of protein O-linked glycosylation."
      },
      "child_count": 12,
      "reference_id": "MONDO:0017741"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026375"
        ],
        "synonyms": [
          "genetic muscle disease",
          "genetic muscle disorder",
          "genetic muscular disease",
          "genetic muscular disorder",
          "hereditary muscle disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 66,
      "reference_id": "MONDO:0700223"
    }
  ],
  "children": [
    {
      "id": 12778,
      "label": "muscular dystrophy-dystroglycanopathy type B5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2757,
        24462
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110635",
          "GARD:0024818",
          "MEDGEN:335764",
          "MESH:C564691",
          "OMIM:606612",
          "Orphanet:52428",
          "UMLS:C1847759"
        ],
        "synonyms": [
          "MDC1C",
          "MDDGB5",
          "congenital muscular dystrophy-FKRP related",
          "muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5",
          "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5",
          "muscular dystrophy, congenital, 1C",
          "muscular dystrophy, congenital, FKRP-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011688"
    },
    {
      "id": 12871,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16084,
        16756,
        24462
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011787"
    },
    {
      "id": 14193,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        16756,
        18861,
        24462
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111241",
          "GARD:0015625",
          "MEDGEN:461763",
          "OMIM:613153",
          "UMLS:C3150413"
        ],
        "synonyms": [
          "muscle-eye-brain-FKRP related",
          "MDDGA5",
          "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013157"
    }
  ],
  "roots": [
    {
      "id": 7023,
      "label": "myopathy"
    },
    {
      "id": 17974,
      "label": "disorder of protein O-glycosylation"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder"
    }
  ]
}