{
  "id": 19743,
  "label": "skeletal muscle disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020120",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 13,
  "parents": [
    {
      "id": 5798,
      "label": "muscle tissue disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 13,
      "reference_id": "MONDO:0003939"
    }
  ],
  "children": [
    {
      "id": 2939,
      "label": "anismus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2936,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050839",
          "ICD9:569.49",
          "MEDGEN:540810",
          "SCTID:83605009",
          "UMLS:C0267601"
        ],
        "synonyms": [
          "anal region skeletal muscle focal dystonia",
          "focal dystonia of anal region skeletal muscle",
          "dyskinetic puborectalis",
          "dyssynergic defecation",
          "puborectalis syndrome",
          "rectosphincteric dyssynergia",
          "spastic pelvic floor syndrome",
          "sphincteric disobedience syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A focal dystonia of the pelvic floor muscles during attempted defecation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0000480"
    },
    {
      "id": 4862,
      "label": "skeletal muscle neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6798,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4044",
          "GARD:0023266",
          "ICD9:239.2",
          "MEDGEN:236817",
          "NCIT:C6514",
          "SCTID:699955004",
          "UMLS:C1335971"
        ],
        "synonyms": [
          "neoplasm of skeletal muscle",
          "neoplasm of skeletal muscle tissue",
          "neoplasm of the skeletal muscle",
          "skeletal muscle neoplasm",
          "skeletal muscle tissue neoplasm",
          "skeletal muscle tissue neoplasm (disease)",
          "skeletal muscle tissue tumor",
          "skeletal muscle tissue tumour",
          "skeletal muscle tumor",
          "skeletal muscle tumour",
          "tumor of skeletal muscle",
          "tumor of skeletal muscle tissue",
          "tumor of the skeletal muscle",
          "tumour of skeletal muscle",
          "tumour of skeletal muscle tissue",
          "tumour of the skeletal muscle"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A benign or malignant mesenchymal neoplasm arising from skeletal muscle."
      },
      "child_count": 4,
      "reference_id": "MONDO:0002848"
    },
    {
      "id": 5437,
      "label": "Volkmann contracture",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5587",
          "GARD:0023549",
          "ICD9:958.6",
          "MEDGEN:22684",
          "MESH:D054061",
          "NCIT:C35130",
          "SCTID:111247001",
          "UMLS:C0042951",
          "icd11.foundation:366740140"
        ],
        "synonyms": [
          "Volkmann's ischaemic contracture",
          "Volkmann's ischemic contracture"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An ischemic contracture of the forearm that most often occurs secondary to trauma."
      },
      "child_count": 0,
      "reference_id": "MONDO:0003528"
    },
    {
      "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": 7354,
      "label": "diaphragm disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6815,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10481",
          "EFO:0007233",
          "GARD:0024224",
          "ICD9:519.4",
          "MEDGEN:508886",
          "SCTID:48475001",
          "UMLS:C0152097"
        ],
        "synonyms": [
          "diaphragm disease",
          "diaphragm disease or disorder",
          "disease of diaphragm",
          "disease or disorder of diaphragm",
          "disorder of diaphragm",
          "diaphragmatic disease",
          "diaphragmatic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A disease involving the diaphragm."
      },
      "child_count": 10,
      "reference_id": "MONDO:0005728"
    },
    {
      "id": 8120,
      "label": "anterior compartment of tibia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5853,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3933",
          "GARD:0024452",
          "MEDGEN:1569",
          "MESH:D000868",
          "SCTID:12694001",
          "UMLS:C0003152"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion."
      },
      "child_count": 0,
      "reference_id": "MONDO:0006648"
    },
    {
      "id": 8447,
      "label": "rotator cuff syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1001250",
          "ICD10CM:M75.1",
          "ICD10WHO:M75.1",
          "ICD9:726.10",
          "MEDGEN:538186",
          "SCTID:4106009",
          "UMLS:C0263912",
          "Wikipedia:Rotator_cuff_tear",
          "icd11.foundation:1471943310"
        ],
        "synonyms": [
          "rotator cuff tear"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007028"
    },
    {
      "id": 8804,
      "label": "Cyprus facial-neuromusculoskeletal syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16089,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009487",
          "MEDGEN:343800",
          "MESH:C536229",
          "OMIM:123853",
          "Orphanet:2674",
          "SCTID:732261005",
          "UMLS:C1852396"
        ],
        "synonyms": [
          "CYPRUS facial neuromusculoskeletal syndrome",
          "unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007413"
    },
    {
      "id": 10165,
      "label": "Tel Hashomer camptodactyly syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005128",
          "MEDGEN:347860",
          "MESH:C536953",
          "OMIM:211960",
          "Orphanet:3292",
          "SCTID:719946008",
          "UMLS:C1859356"
        ],
        "synonyms": [
          "Tel Hashomer camptodactyly syndrome",
          "camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008901"
    },
    {
      "id": 16637,
      "label": "muscular dystrophy-white matter spongiosis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003854",
          "Orphanet:1877"
        ],
        "synonyms": [
          "Atrophie blanche",
          "muscular dystrophy white matter spongiosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015994"
    },
    {
      "id": 16731,
      "label": "acquired skeletal muscle disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842576",
          "Orphanet:206638",
          "UMLS:C5680799"
        ],
        "synonyms": [
          "acquired skeletal muscle disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of skeletal muscle disease that is acquired during the lifetime of the individual."
      },
      "child_count": 5,
      "reference_id": "MONDO:0016105"
    },
    {
      "id": 16737,
      "label": "myotonic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020372",
          "MEDGEN:107510",
          "MESH:D020967",
          "MedDRA:10028658",
          "Orphanet:206970",
          "UMLS:C0553604"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 10,
      "reference_id": "MONDO:0016120"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 5798,
      "label": "muscle tissue disorder"
    }
  ]
}