{
  "id": 7023,
  "label": "myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005336",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 32,
  "parents": [
    {
      "id": 19743,
      "label": "skeletal muscle disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5798
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:735900",
          "MedDRA:10028641",
          "Orphanet:98472",
          "SCTID:75047002",
          "UMLS:C1533847"
        ],
        "synonyms": [
          "disease of skeletal muscle tissue",
          "disease or disorder of skeletal muscle tissue",
          "disorder of skeletal muscle tissue",
          "skeletal muscle tissue disease",
          "skeletal muscle tissue disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the skeletal muscle tissue."
      },
      "child_count": 13,
      "reference_id": "MONDO:0020120"
    }
  ],
  "children": [
    {
      "id": 2764,
      "label": "polyglucosan body myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022725",
          "OMIMPS:615895"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0000192"
    },
    {
      "id": 6139,
      "label": "muscular atrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:767",
          "ICD9:728.2",
          "MEDGEN:892680",
          "MESH:D009133",
          "SCTID:88092000",
          "UMLS:C0541794"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "The loss of muscle tissue due to inactivity or disease."
      },
      "child_count": 1,
      "reference_id": "MONDO:0004323"
    },
    {
      "id": 6517,
      "label": "myopathy of extraocular muscle",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2924,
        7023,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:929",
          "GARD:0024100",
          "ICD10CM:H05.82",
          "ICD9:376.82",
          "MEDGEN:509895",
          "SCTID:57130002",
          "UMLS:C0155286"
        ],
        "synonyms": [
          "extra-ocular muscle myopathy",
          "myopathy of extra-ocular muscle",
          "myopathy of extraocular muscles"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A myopathy that involves the extra-ocular muscle."
      },
      "child_count": 9,
      "reference_id": "MONDO:0004746"
    },
    {
      "id": 6711,
      "label": "acute quadriplegic myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7023,
        20092
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0000225",
          "GARD:0024139",
          "MEDGEN:1843474",
          "UMLS:C1135345"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM."
      },
      "child_count": 0,
      "reference_id": "MONDO:0004969"
    },
    {
      "id": 8304,
      "label": "myofascial pain syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:431",
          "EFO:1001054",
          "GARD:0024491",
          "ICD9:729.1",
          "MEDGEN:6496",
          "MESH:D009209",
          "MedDRA:10048780",
          "SCTID:24693007",
          "UMLS:C0027073"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome."
      },
      "child_count": 1,
      "reference_id": "MONDO:0006862"
    },
    {
      "id": 10916,
      "label": "myopathy with abnormal lipid metabolism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024689",
          "MEDGEN:934789",
          "MESH:C562935",
          "OMIM:255100",
          "SCTID:240095001",
          "UMLS:C4310822"
        ],
        "synonyms": [
          "myopathy with abnormal lipid metabolism",
          "LIPID storage myopathy due to flavin adenine dinucleotide synthetase deficiency",
          "LSMFLAD",
          "lipid storage myopathy",
          "lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009703"
    },
    {
      "id": 12056,
      "label": "proximal myopathy with focal depletion of mitochondria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017956",
          "MEDGEN:318881",
          "MESH:C563453",
          "OMIM:600706",
          "Orphanet:521305",
          "UMLS:C1833453"
        ],
        "synonyms": [
          "proximal myopathy with focal depletion of mitochondria"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010923"
    },
    {
      "id": 12105,
      "label": "Brody myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7023,
        16785,
        24270,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050692",
          "GARD:0009158",
          "ICD9:359.89",
          "MEDGEN:371441",
          "MESH:C536607",
          "OMIM:601003",
          "Orphanet:53347",
          "SCTID:703530005",
          "UMLS:C1832918"
        ],
        "synonyms": [
          "Brody myopathy",
          "Brody disease",
          "sarcoplasmic reticulum -Ca2+ATPase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010977"
    },
    {
      "id": 12729,
      "label": "rippling muscle disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024814",
          "ICD9:359.29",
          "MEDGEN:342944",
          "MedDRA:10069417",
          "SCTID:709281006",
          "UMLS:C1853698",
          "icd11.foundation:894802822"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch"
      },
      "child_count": 2,
      "reference_id": "MONDO:0011634"
    },
    {
      "id": 15226,
      "label": "myopathy due to myoadenylate deaminase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015248",
          "MEDGEN:811508",
          "NCIT:C157504",
          "OMIM:615511",
          "UMLS:C3714933"
        ],
        "synonyms": [
          "myopathy due to myoadenylate deaminase deficiency",
          "AMP deaminase 1 deficiency",
          "AMP deaminase deficiency",
          "AMPD1 deficiency",
          "MMDD",
          "adenosine monophosphate deaminase 1 deficiency",
          "adenosine monophosphate deaminase deficiency",
          "adenosine monophosphate deaminase-1 deficiency, myopathy due to",
          "myoadenylate deaminase deficiency",
          "myoadenylate deaminase deficiency, myopathy due to"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014220"
    },
    {
      "id": 15304,
      "label": "proximal myopathy with extrapyramidal signs",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7023,
        7073,
        24270,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111335",
          "GARD:0012978",
          "MEDGEN:816615",
          "OMIM:615673",
          "Orphanet:401768",
          "UMLS:C3810285"
        ],
        "synonyms": [
          "MPXPS",
          "myopathy with extrapyramidal signs"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014300"
    },
    {
      "id": 16496,
      "label": "intermediate nemaline myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        7023,
        16780,
        16781,
        17624
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012823",
          "MEDGEN:1803914",
          "Orphanet:171433",
          "UMLS:C5680452",
          "icd11.foundation:1667070006"
        ],
        "synonyms": [
          "Intermediate congenital NM",
          "Intermediate congenital nemaline myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression."
      },
      "child_count": 20,
      "reference_id": "MONDO:0015736"
    },
    {
      "id": 16735,
      "label": "hereditary inclusion-body myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020364",
          "MEDGEN:1843174",
          "Orphanet:206662",
          "UMLS:C5680794"
        ],
        "synonyms": [
          "inclusion myopathy",
          "cytoplasmic body myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 16,
      "reference_id": "MONDO:0016112"
    },
    {
      "id": 19661,
      "label": "hereditary continuous muscle fiber activity",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001512",
          "MEDGEN:331775",
          "Orphanet:972",
          "UMLS:C1834559"
        ],
        "synonyms": [
          "continuous muscle fiber activity hereditary",
          "continuous muscle fiber activity, hereditary",
          "continuous muscle fibre activity hereditary",
          "continuous muscle fibre activity, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019943"
    },
    {
      "id": 19669,
      "label": "congenital myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080100",
          "DOID:0081337",
          "GARD:0005898",
          "MEDGEN:124381",
          "MedDRA:10062547",
          "NANDO:1200477",
          "NANDO:2100234",
          "OMIMPS:117000",
          "Orphanet:97245",
          "UMLS:C0270960",
          "icd11.foundation:1185572073"
        ],
        "synonyms": [
          "congenital myopathy",
          "Batten Turner congenital myopathy",
          "myopathy congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 106,
      "reference_id": "MONDO:0019952"
    },
    {
      "id": 19744,
      "label": "muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24271,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9884",
          "GARD:0007922",
          "ICD10CM:G71.0",
          "ICD9:359.1",
          "MEDGEN:44527",
          "MESH:D009136",
          "MedDRA:10028356",
          "NANDO:1200486",
          "NANDO:2100233",
          "NCIT:C84910",
          "Orphanet:98473",
          "SCTID:73297009",
          "UMLS:C0026850",
          "icd11.foundation:1464662404"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities."
      },
      "child_count": 33,
      "reference_id": "MONDO:0020121"
    },
    {
      "id": 19746,
      "label": "metabolic myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019472",
          "ICD9:359.89",
          "MEDGEN:452364",
          "MedDRA:10068836",
          "NCIT:C98985",
          "Orphanet:98486",
          "SCTID:26111005",
          "UMLS:C0270984"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction."
      },
      "child_count": 4,
      "reference_id": "MONDO:0020123"
    },
    {
      "id": 20400,
      "label": "myositis disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        20399
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:633",
          "EFO:0000783",
          "ICD9:728.9",
          "MEDGEN:44564",
          "MESH:D009220",
          "NCIT:C27578",
          "SCTID:128496001",
          "UMLS:C0027121"
        ],
        "synonyms": [
          "inflammation of muscle tissue",
          "inflammatory disorder of muscle (disorder)",
          "muscle tissue inflammation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue."
      },
      "child_count": 22,
      "reference_id": "MONDO:0021167"
    },
    {
      "id": 23966,
      "label": "collagen 6-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012705"
        ],
        "synonyms": [
          "collagen 6-related myopathy",
          "collagen VI-related dystrophy",
          "collagen VI-related muscle disorder",
          "collagen VI-related muscular dystrophy",
          "collagen VI-related myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100225"
    },
    {
      "id": 24255,
      "label": "myopathy caused by variation in CRPPA",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        16755,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026264"
        ],
        "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 CRPPA gene."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100530"
    },
    {
      "id": 24356,
      "label": "drug-induced myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:G72.0",
          "SCTID:240101000"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A myopathy caused by exposure to a drug."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100637"
    },
    {
      "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"
    },
    {
      "id": 24463,
      "label": "myopathy caused by variation in FKTN",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        16755,
        24618
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 9,
      "reference_id": "MONDO:0700067"
    },
    {
      "id": 24464,
      "label": "myopathy caused by variation in POMGNT1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        7023,
        17974,
        24270,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026341"
        ],
        "synonyms": [
          "POMGNT1 myopathy",
          "POMGNT1-related myopathy",
          "myopathy caused by mutation in POMGNT1"
        ],
        "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 POMGNT1 gene."
      },
      "child_count": 15,
      "reference_id": "MONDO:0700068"
    },
    {
      "id": 24465,
      "label": "myopathy caused by variation in POMGNT2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        17974,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026342"
        ],
        "synonyms": [
          "POMGNT2 myopathy",
          "POMGNT2-related myopathy",
          "myopathy caused by mutation in POMGNT2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:0700069"
    },
    {
      "id": 24466,
      "label": "myopathy caused by variation in POMT1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        16755,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026343"
        ],
        "synonyms": [
          "POMT1 myopathy",
          "POMT1-related myopathy",
          "myopathy caused by mutation in POMT1"
        ],
        "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 POMT1 gene."
      },
      "child_count": 9,
      "reference_id": "MONDO:0700070"
    },
    {
      "id": 24467,
      "label": "myopathy caused by variation in POMT2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        16755,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026344"
        ],
        "synonyms": [
          "POMT2 myopathy",
          "POMT2-related myopathy",
          "myopathy caused by mutation in POMT2"
        ],
        "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 POMT2 gene."
      },
      "child_count": 9,
      "reference_id": "MONDO:0700071"
    },
    {
      "id": 24480,
      "label": "myopathy caused by variation in GMPPB",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        16755,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026352"
        ],
        "synonyms": [
          "GMPPB-related myopathy",
          "myopathy caused by mutation in GMPPB"
        ],
        "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 GMPPB gene."
      },
      "child_count": 9,
      "reference_id": "MONDO:0700084"
    },
    {
      "id": 25048,
      "label": "FHL1-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026563"
        ],
        "synonyms": [
          "FHL1-related myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of myopathies that includes Emery-Dreifuss muscular dystrophy (EDMD), and two allelic disorders characterized by the presence of reducing body on histopathology, namely reducing body myopathy (RBM) and scapuloperoneal myopathy."
      },
      "child_count": 10,
      "reference_id": "MONDO:0800462"
    },
    {
      "id": 25530,
      "label": "myopathy, sarcoplasmic body",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026741",
          "MEDGEN:1840998",
          "OMIM:620286",
          "UMLS:C5830362"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859530"
    },
    {
      "id": 26121,
      "label": "myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061184",
          "GARD:0027327",
          "MEDGEN:1874979",
          "OMIM:620971",
          "UMLS:C5975449"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0975830"
    },
    {
      "id": 26256,
      "label": "myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028118",
          "OMIMPS:620138"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979249"
    }
  ],
  "roots": [
    {
      "id": 19743,
      "label": "skeletal muscle disorder"
    }
  ]
}