{
  "id": 5798,
  "label": "muscle tissue disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0003939",
  "properties": {
    "xrefs": [
      "DOID:0080000",
      "DOID:66",
      "ICD10CM:M60-M63",
      "MESH:D009135"
    ],
    "synonyms": [
      "disease of muscle organ",
      "disease of muscle tissue",
      "disease or disorder of muscle organ",
      "disease or disorder of muscle tissue",
      "disorder of muscle organ",
      "disorder of muscle tissue",
      "muscle organ disease",
      "muscle organ disease or disorder",
      "muscle tissue disease",
      "muscle tissue disease or disorder",
      "muscular disorder"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A disease involving the muscle tissue."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 13,
  "parents": [
    {
      "id": 4222,
      "label": "musculoskeletal system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:17",
          "EFO:0009676",
          "ICD9:729.99",
          "MEDGEN:6471",
          "MESH:D009140",
          "NCIT:C107377",
          "SCTID:928000",
          "UMLS:C0026857"
        ],
        "synonyms": [
          "disease of musculoskeletal system",
          "disease or disorder of musculoskeletal system",
          "disorder of musculoskeletal system",
          "musculoskeletal disease",
          "musculoskeletal system disease",
          "musculoskeletal system disease or disorder",
          "musculoskeletal system disorder",
          "musculoskeletal disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the musculoskeletal system."
      },
      "child_count": 22,
      "reference_id": "MONDO:0002081"
    }
  ],
  "children": [
    {
      "id": 2981,
      "label": "striated muscle rhabdoid tumor",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4765,
        5798,
        7472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050924",
          "GARD:0022795"
        ],
        "synonyms": [
          "striated muscle tissue rhabdoid tumor",
          "striated muscle tissue rhabdoid tumour"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rhabdoid tumor that involves the striated muscle tissue."
      },
      "child_count": 0,
      "reference_id": "MONDO:0000539"
    },
    {
      "id": 5556,
      "label": "septal myocardial infarction",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5798,
        6797
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5846",
          "MEDGEN:148176",
          "UMLS:C0746727"
        ],
        "synonyms": [
          "cardiac septum myocardial infarction (disease)",
          "myocardial infarction (disease) of cardiac septum"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A myocardial infarction (disease) that involves the cardiac septum."
      },
      "child_count": 0,
      "reference_id": "MONDO:0003671"
    },
    {
      "id": 6428,
      "label": "tonsillar pillar cancer",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3041,
        5798,
        8421
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8688",
          "GARD:0027696",
          "ICD10CM:C09.1",
          "ICD9:146.2",
          "MEDGEN:509270",
          "SCTID:187675005",
          "UMLS:C0153385"
        ],
        "synonyms": [
          "malignant neoplasm of tonsillar pillar",
          "malignant neoplasm of tonsillar pillars, posterior",
          "malignant tumor of tonsillar pillar"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "A cancer that involves the tonsillar pillar."
      },
      "child_count": 0,
      "reference_id": "MONDO:0004642"
    },
    {
      "id": 6492,
      "label": "atrophic muscular disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5798,
        18957
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:913",
          "GARD:0024096",
          "MEDGEN:156267",
          "NCIT:C84574",
          "UMLS:C0752352"
        ],
        "synonyms": [
          "atrophic muscular disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves."
      },
      "child_count": 0,
      "reference_id": "MONDO:0004714"
    },
    {
      "id": 6735,
      "label": "cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5798,
        6967
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050700",
          "EFO:0000318",
          "ICD10CM:I42",
          "ICD10WHO:I42",
          "ICD9:425",
          "ICD9:425.4",
          "ICD9:425.9",
          "MEDGEN:209232",
          "MESH:D009202",
          "MedDRA:10007636",
          "NCIT:C34830",
          "Orphanet:167848",
          "SCTID:85898001",
          "UMLS:C0878544",
          "icd11.foundation:282225286"
        ],
        "synonyms": [
          "Cardiomyopathies",
          "cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive."
      },
      "child_count": 24,
      "reference_id": "MONDO:0004994"
    },
    {
      "id": 7080,
      "label": "myalgic encephalomeyelitis/chronic fatigue syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        5798,
        20334,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8544",
          "EFO:0004540",
          "ICD9:780.71",
          "ICD9:780.79",
          "MEDGEN:5130",
          "MESH:D015673",
          "NCIT:C3037",
          "Orphanet:1983",
          "SCTID:51771007",
          "UMLS:C0015674"
        ],
        "synonyms": [
          "CFS",
          "chronic fatigue immune dysfunction syndrome",
          "chronic fatigue syndrome",
          "myalgic encephalitis",
          "myalgic encephalomyelitis",
          "systemic exertion intolerance disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0005404"
    },
    {
      "id": 7113,
      "label": "conduction system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5798,
        21552
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0005137",
          "MEDGEN:412576",
          "UMLS:C2748542"
        ],
        "synonyms": [
          "conducting system of heart disease",
          "conducting system of heart disease or disorder",
          "disease of conducting system of heart",
          "disease or disorder of conducting system of heart",
          "disorder of conducting system of heart"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease involving the conducting system of heart."
      },
      "child_count": 8,
      "reference_id": "MONDO:0005449"
    },
    {
      "id": 14624,
      "label": "myostatin-related muscle hypertrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        5798
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111072",
          "HGNC:4223",
          "ICD9:756.89",
          "MEDGEN:418994",
          "MESH:C536106",
          "OMIM:614160",
          "Orphanet:275534",
          "SCTID:699185005",
          "UMLS:C2931112"
        ],
        "synonyms": [
          "MSLHP",
          "muscle hypertrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013598"
    },
    {
      "id": 16751,
      "label": "caveolinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5798,
        16744,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020394",
          "MEDGEN:1826055",
          "Orphanet:207078",
          "UMLS:C5679790"
        ],
        "synonyms": [
          "qualitative or quantitative defects of caveolin-3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals"
      },
      "child_count": 3,
      "reference_id": "MONDO:0016146"
    },
    {
      "id": 19660,
      "label": "distal arthrogryposis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5798,
        16118
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050646",
          "GARD:0000786",
          "MEDGEN:120512",
          "OMIMPS:108120",
          "Orphanet:97120",
          "SCTID:24269006",
          "UMLS:C0265213",
          "icd11.foundation:1265239690"
        ],
        "synonyms": [
          "arthrogryposis multiplex congenita distal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A muscle tissue disease characterized by congenital joint contractures of hand and feet."
      },
      "child_count": 69,
      "reference_id": "MONDO:0019942"
    },
    {
      "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"
    },
    {
      "id": 20660,
      "label": "myomatous neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4667,
        5798
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:76477",
          "MESH:D009379",
          "MESH:D019042",
          "NCIT:C4063",
          "UMLS:C0282606"
        ],
        "synonyms": [
          "muscle neoplasm",
          "muscle tumor",
          "muscle tumour",
          "myomatous neoplasm",
          "myomatous tumor",
          "myomatous tumour",
          "neoplasm of muscle",
          "neoplasm of the muscle",
          "tumor of muscle",
          "tumor of the muscle",
          "tumour of muscle",
          "tumour of the muscle",
          "muscle tissue neoplasm",
          "muscle tissue neoplasms",
          "myoblastoma",
          "myoblastomas",
          "myofibroblastoma",
          "myofibroblastomas",
          "neoplasm, muscle tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle."
      },
      "child_count": 4,
      "reference_id": "MONDO:0021545"
    },
    {
      "id": 21232,
      "label": "Kocher-debre-Semelaigne syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        5798,
        18613
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025371",
          "MESH:C537211",
          "icd11.foundation:109007822"
        ],
        "synonyms": [
          "Kocher debre Semelaigne disease",
          "association of muscular pseudohypertrophy and hypothyroidism in children"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0023558"
    }
  ],
  "roots": [
    {
      "id": 4222,
      "label": "musculoskeletal system disorder"
    }
  ]
}