{
  "id": 24463,
  "label": "myopathy caused by variation in FKTN",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700067",
  "properties": {
    "xrefs": [
      "GARD:0026340"
    ],
    "synonyms": [
      "FKTN myopathy",
      "FKTN-related myopathy",
      "myopathy caused by mutation in FKTN"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any myopathy in which the cause of the disease is a variation in the FKTN 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": 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"
    },
    {
      "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": 10892,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        18861,
        24463
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050559",
          "GARD:0006475",
          "MEDGEN:140820",
          "NANDO:1200494",
          "NANDO:2200860",
          "NCIT:C126741",
          "NORD:1169",
          "OMIM:253800",
          "Orphanet:272",
          "SCTID:111502003",
          "UMLS:C0410174"
        ],
        "synonyms": [
          "FCMD",
          "Fukuyama Type Congenital Muscular Dystrophy",
          "Fukuyama congenital muscular dystrophy",
          "MDDGA4",
          "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related",
          "muscle-eye-brain-FKTN related",
          "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4",
          "congenital muscular dystrophy, Fukuyama type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009678"
    },
    {
      "id": 13739,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2M",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2758,
        16084,
        16878,
        24463
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110296",
          "GARD:0012538",
          "MEDGEN:370585",
          "MESH:C566912",
          "OMIM:611588",
          "Orphanet:206554",
          "UMLS:C1969040"
        ],
        "synonyms": [
          "FKTN autosomal recessive limb-girdle muscular dystrophy",
          "LGMD-FKTN related",
          "LGMD2M",
          "MDDGC4",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN",
          "limb-girdle muscular dystrophy type 2M",
          "muscular dystrophy, limb-girdle, type 2M",
          "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012699"
    },
    {
      "id": 14192,
      "label": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2757,
        24463
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112379",
          "GARD:0018456",
          "MEDGEN:413465",
          "OMIM:613152",
          "UMLS:C2751052"
        ],
        "synonyms": [
          "congenital muscular dystrophy-FKTN related",
          "MDDGB4",
          "muscular dystrophy, congenital, Fktn-related",
          "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4",
          "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013156"
    }
  ],
  "roots": [
    {
      "id": 7023,
      "label": "myopathy"
    },
    {
      "id": 16755,
      "label": "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder"
    }
  ]
}