{
  "id": 4222,
  "label": "musculoskeletal system disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0002081",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 22,
  "parents": [
    {
      "id": 29379,
      "label": "disease by body system or component",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24492
      ],
      "type_id": 0,
      "properties": {
        "definition": "A grouping class for human diseases classified by the body system or anatomical component primarily affected."
      },
      "child_count": 19,
      "reference_id": "MONDO:7770006"
    }
  ],
  "children": [
    {
      "id": 3005,
      "label": "autoimmune disorder of musculoskeletal system",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222,
        8586
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060032"
        ],
        "synonyms": [
          "musculoskeletal system autoimmune disease",
          "musculoskeletal system hypersensitivity reaction type II disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A hypersensitivity reaction type II disease that involves the musculoskeletal system."
      },
      "child_count": 6,
      "reference_id": "MONDO:0000589"
    },
    {
      "id": 3040,
      "label": "musculoskeletal system benign neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222,
        6887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060099",
          "MEDGEN:1709701",
          "NCIT:C166356",
          "UMLS:C5237920"
        ],
        "synonyms": [
          "musculoskeletal system benign neoplasm"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A benign neoplasm that involves the musculoskeletal system."
      },
      "child_count": 16,
      "reference_id": "MONDO:0000636"
    },
    {
      "id": 3041,
      "label": "musculoskeletal system cancer",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222,
        6733
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060100",
          "MEDGEN:1714562",
          "NCIT:C166357",
          "UMLS:C0036210"
        ],
        "synonyms": [
          "cancer of musculoskeletal system",
          "malignant musculoskeletal system neoplasm",
          "malignant neoplasm of musculoskeletal system",
          "musculoskeletal system cancer",
          "skeletal system cancer"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A malignant neoplasm involving the musculoskeletal system"
      },
      "child_count": 22,
      "reference_id": "MONDO:0000637"
    },
    {
      "id": 3287,
      "label": "Klippel-Feil syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10426",
          "GARD:0010280",
          "ICD10CM:Q76.1",
          "ICD9:756.16",
          "MEDGEN:9645",
          "MESH:D007714",
          "NCIT:C98967",
          "OMIMPS:118100",
          "Orphanet:2345",
          "SCTID:5601008",
          "UMLS:C0022738",
          "icd11.foundation:2139186992"
        ],
        "synonyms": [
          "Klippel-Feil Sequence",
          "Klippel Feil syndrome",
          "Klippel-Feil and Turner syndrome",
          "Klippel-Feil deformity, deafness and facial asymmetry",
          "autosomal dominant Klippel-Feil syndrome",
          "cervical vertebral fusion",
          "congenital dystrophia brevicollis",
          "congenital synostosis of cervical vertebrae"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy."
      },
      "child_count": 12,
      "reference_id": "MONDO:0001029"
    },
    {
      "id": 4306,
      "label": "enthesopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:204",
          "EFO:0009666",
          "ICD9:726.9",
          "ICD9:726.90",
          "MEDGEN:66909",
          "MESH:D000070676",
          "SCTID:23680005",
          "UMLS:C0242490"
        ],
        "synonyms": [
          "disease of enthesis",
          "disease or disorder of enthesis",
          "disorder of enthesis",
          "enthesis disease",
          "enthesis disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A disorder involving the attachment of a tendon or ligament to a bone"
      },
      "child_count": 10,
      "reference_id": "MONDO:0002183"
    },
    {
      "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"
    },
    {
      "id": 6588,
      "label": "fasciitis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222,
        5762,
        20399
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9598",
          "HP:0100537",
          "ICD9:729.4",
          "MEDGEN:4658",
          "MESH:D005208",
          "NCIT:C50559",
          "SCTID:36948007",
          "UMLS:C0015645"
        ],
        "synonyms": [
          "Fascitis",
          "fascia inflammation",
          "fasciitis",
          "fasciitis (disease)",
          "inflammation of fascia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Inflammation process in fascia."
      },
      "child_count": 18,
      "reference_id": "MONDO:0004830"
    },
    {
      "id": 6893,
      "label": "skeletal system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0002461",
          "MEDGEN:538042",
          "SCTID:88230002",
          "UMLS:C0263661"
        ],
        "synonyms": [
          "disease of skeletal system",
          "disease or disorder of skeletal system",
          "disorder of skeletal system",
          "skeletal system disease",
          "skeletal system disease or disorder",
          "disease of bone and/or joint",
          "osteoarthropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the skeletal system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005172"
    },
    {
      "id": 7950,
      "label": "synovial chondromatosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4222,
        23336
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1000557",
          "MEDGEN:40275",
          "MESH:D015838",
          "NCIT:C34467",
          "UMLS:C0008476"
        ],
        "synonyms": [
          "Henderson-Jones syndrome",
          "Reichel's syndrome",
          "synovial osteochondromatosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common."
      },
      "child_count": 0,
      "reference_id": "MONDO:0006438"
    },
    {
      "id": 8584,
      "label": "auriculoosteodysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008663",
          "MEDGEN:400038",
          "MESH:C538271",
          "OMIM:109000",
          "Orphanet:114",
          "UMLS:C1862381"
        ],
        "synonyms": [
          "auriculoosteodysplasia",
          "auriculo-osteodysplasia",
          "multiple osseous dysplasia, characteristic ear shape, and short stature"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007177"
    },
    {
      "id": 9483,
      "label": "hypertrophic osteoarthropathy, primary, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4222,
        17104
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015101",
          "MEDGEN:382429",
          "OMIM:167100",
          "UMLS:C2674695"
        ],
        "synonyms": [
          "PHOAD",
          "hypertrophic osteoarthropathy, primary, autosomal dominant",
          "PDP, autosomal dominant",
          "Pho, autosomal dominant",
          "pachydermoperiostosis, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008172"
    },
    {
      "id": 9908,
      "label": "Upington disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4222,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005421",
          "MEDGEN:348145",
          "MESH:C536472",
          "OMIM:191520",
          "Orphanet:3408",
          "SCTID:719041000",
          "UMLS:C1860596",
          "icd11.foundation:1846351406"
        ],
        "synonyms": [
          "Upington disease",
          "hip dysplasia-enchondromata-ecchondroma syndrome",
          "Perthes-like hip disease, enchondromata, and Ecchondromata",
          "familial dyschondroplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008624"
    },
    {
      "id": 11155,
      "label": "Ramon syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4222,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070650",
          "GARD:0007523",
          "MEDGEN:208669",
          "MESH:C535285",
          "OMIM:266270",
          "Orphanet:3019",
          "UMLS:C0796133",
          "icd11.foundation:122538435"
        ],
        "synonyms": [
          "Ramon syndrome",
          "cherubism-gingival fibromatosis-intellectual disability syndrome",
          "cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted Growth",
          "gingival fibromatosis combined with cherubism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009954"
    },
    {
      "id": 12146,
      "label": "osteoporosis-oculocutaneous hypopigmentation syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4222,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000404",
          "MEDGEN:331321",
          "MESH:C536062",
          "OMIM:601220",
          "Orphanet:2786",
          "SCTID:722113001",
          "UMLS:C1832592"
        ],
        "synonyms": [
          "Hernández-Fragoso syndrome",
          "OOCHS",
          "OOCH",
          "OOCH syndrome",
          "osteoporosis and oculocutaneous hypopigmentation syndrome",
          "osteoporosis oculocutaneous hypopigmentation syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Osteoporosis-oculocutaneous hypopigmentation syndrome is characterized by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011020"
    },
    {
      "id": 12172,
      "label": "short stature, Brussels type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4222,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004838",
          "MEDGEN:318625",
          "MESH:C537121",
          "OMIM:601350",
          "Orphanet:2867",
          "SCTID:719213009",
          "UMLS:C1832439",
          "icd11.foundation:251068104"
        ],
        "synonyms": [
          "Mievis-Verellen-Dumoulin syndrome",
          "Mievis Verellen-Dumoulin syndrome",
          "familial short stature with facial dysmorphism and osteochondrodysplastic lesions",
          "short stature syndrome, Brussels type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "This syndrome is characterized by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011046"
    },
    {
      "id": 12601,
      "label": "wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4222,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010290",
          "MEDGEN:387969",
          "MESH:C565734",
          "OMIM:604922",
          "Orphanet:166277",
          "UMLS:C1858032"
        ],
        "synonyms": [
          "Suarez-Stickler syndrome",
          "cortical defects wormian bones and dentinogenesis imperfecta",
          "cortical defects, WORMIAN bones, and dentinogenesis imperfecta"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011501"
    },
    {
      "id": 12860,
      "label": "CINCA syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4222,
        16767
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090029",
          "GARD:0001356",
          "ICD9:759.89",
          "MEDGEN:98370",
          "NANDO:1200468",
          "NANDO:2201066",
          "NCIT:C116380",
          "NORD:1496",
          "OMIM:607115",
          "Orphanet:1451",
          "SCTID:239826001",
          "UMLS:C0409818"
        ],
        "synonyms": [
          "CINCA syndrome",
          "CINCA/NOMID",
          "IOMID syndrome",
          "NOMID",
          "NOMID syndrome",
          "Neonatal-Onset Multisystem Inflammatory Disease",
          "Prieur-Griscelli syndrome",
          "chronic infantile neurological cutaneous and articular syndrome",
          "chronic neurologic cutaneous and articular syndrome",
          "cryopyrin-associated periodic syndrome 3",
          "infantile-onset multisystem inflammatory disease",
          "neonatal-onset multisystem inflammatory disease",
          "CINCA",
          "Cryopyrin-associated periodic syndrome 3",
          "IOMID",
          "Prieur Griscelli syndrome",
          "infantile onset multisystem inflammatory disease",
          "multisystem inflammatory disease, neonatal-onset",
          "neonatal onset multisystem inflammatory disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterized by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011776"
    },
    {
      "id": 14589,
      "label": "chondrodysplasia with joint dislocations, gPAPP type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2777,
        4222,
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112224",
          "GARD:0011009",
          "MEDGEN:481387",
          "OMIM:614078",
          "Orphanet:280586",
          "UMLS:C3279757"
        ],
        "synonyms": [
          "chondrodysplasia with joint dislocations, gPAPP type",
          "gPAPP deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013561"
    },
    {
      "id": 23530,
      "label": "ligament disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:538235",
          "SCTID:60492000",
          "UMLS:C0263976"
        ],
        "synonyms": [
          "disease of ligament",
          "disease or disorder of ligament",
          "disorder of ligament",
          "ligament disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease or disorder that involves the ligament."
      },
      "child_count": 4,
      "reference_id": "MONDO:0045044"
    },
    {
      "id": 23662,
      "label": "synovium disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:727.89",
          "ICD9:727.9",
          "MEDGEN:538212",
          "SCTID:3519007",
          "UMLS:C0263945"
        ],
        "synonyms": [
          "disease of layer of synovial tissue",
          "disease or disorder of layer of synovial tissue",
          "disorder of layer of synovial tissue",
          "disorder of synovium",
          "layer of synovial tissue disease",
          "layer of synovial tissue disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease or disorder that involves the layer of synovial tissue."
      },
      "child_count": 4,
      "reference_id": "MONDO:0056799"
    },
    {
      "id": 23768,
      "label": "disease of the tendon",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1001434",
          "MEDGEN:508839",
          "MESH:D052256",
          "SCTID:68172002",
          "UMLS:C0151936"
        ],
        "synonyms": [
          "disease of tendon",
          "disease or disorder of tendon",
          "disorder of tendon",
          "tendinopathy",
          "tendon disease",
          "tendon disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A disease involving the tendon."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100010"
    },
    {
      "id": 25326,
      "label": "Short stature, Dauber-Argente type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4222,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1794178",
          "OMIM:619489",
          "UMLS:C5561968"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859182"
    }
  ],
  "roots": [
    {
      "id": 29379,
      "label": "disease by body system or component"
    }
  ]
}