{
  "id": 16756,
  "label": "qualitative or quantitative defects of FKRP",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016156",
  "properties": {
    "xrefs": [
      "GARD:0020403",
      "MEDGEN:1842706",
      "Orphanet:207119",
      "UMLS:C5680827"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16755,
      "label": "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        17974,
        18397,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020402",
          "MEDGEN:1842564",
          "Orphanet:207113",
          "UMLS:C5679795"
        ],
        "synonyms": [
          "secondary alpha-dystroglycanopathy",
          "secondary dystroglycanopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 36,
      "reference_id": "MONDO:0016155"
    }
  ],
  "children": [
    {
      "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": 16755,
      "label": "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan"
    }
  ]
}