{
  "id": 7203,
  "label": "rheumatic disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005554",
  "properties": {
    "xrefs": [
      "DOID:1575",
      "EFO:0005755",
      "ICD9:729.0",
      "MEDGEN:3157",
      "MESH:D012216",
      "NANDO:2100151",
      "NANDO:2100152",
      "NCIT:C27204",
      "SCTID:396332003",
      "UMLS:C0009326",
      "Wikipedia:Rheumatism"
    ],
    "synonyms": [
      "rheumatic disease",
      "rheumatologic disorder",
      "collagen disease",
      "collagen vascular disease",
      "connective tissue disease",
      "disease, rheumatic",
      "diseases, rheumatic",
      "enthesopathies",
      "enthesopathy",
      "inflammatory rheumatism",
      "musculoskeletal pain disorder",
      "rheumatism"
    ],
    "categories": [
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "Inflammatory and degenerative diseases of connective tissue structures, such as arthritis."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 30,
  "parents": [
    {
      "id": 5762,
      "label": "connective tissue disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:65",
          "EFO:1001986",
          "MEDGEN:1098",
          "MESH:D003240",
          "NANDO:2100172",
          "NCIT:C26729",
          "SCTID:105969002",
          "UMLS:C0009782"
        ],
        "synonyms": [
          "connective tissue disease",
          "connective tissue disease or disorder",
          "connective tissue diseases",
          "connective tissue disorder",
          "connective tissue disorders",
          "disease of connective tissue",
          "disease or disorder of connective tissue",
          "disease, connective tissue",
          "disorder of connective tissue",
          "primary disorder of connective tissue",
          "tissue disease, connective"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A disease involving the connective tissue."
      },
      "child_count": 16,
      "reference_id": "MONDO:0003900"
    }
  ],
  "children": [
    {
      "id": 3561,
      "label": "palindromic rheumatism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        5301,
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1166",
          "ICD10CM:M12.3",
          "ICD9:719.3",
          "ICD9:719.30",
          "ICD9:719.31",
          "ICD9:719.32",
          "ICD9:719.33",
          "ICD9:719.36",
          "ICD9:719.38",
          "MEDGEN:39080",
          "MESH:C538103",
          "SCTID:50442003",
          "UMLS:C0085574",
          "icd11.foundation:494875651"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0001332"
    },
    {
      "id": 5517,
      "label": "rheumatic pulmonary valve disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3017,
        5518,
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5748",
          "ICD9:397.1",
          "MEDGEN:510027",
          "SCTID:18687009",
          "UMLS:C0155579"
        ],
        "synonyms": [
          "pulmonary valve rheumatologic disorder",
          "rheumatic disease of pulmonary valve",
          "rheumatologic disorder of pulmonary valve"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A rheumatologic disorder that involves the pulmonary valve."
      },
      "child_count": 0,
      "reference_id": "MONDO:0003627"
    },
    {
      "id": 6454,
      "label": "lupus erythematosus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7203,
        8586
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8857",
          "ICD10CM:L93",
          "ICD10WHO:L93",
          "ICD9:695.4",
          "MEDGEN:98043",
          "NCIT:C27153",
          "SCTID:200936003",
          "UMLS:C0409974",
          "icd11.foundation:1443317238"
        ],
        "synonyms": [
          "lupus",
          "lupus erythematosus"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus."
      },
      "child_count": 6,
      "reference_id": "MONDO:0004670"
    },
    {
      "id": 7465,
      "label": "mixed connective tissue disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7203,
        17132
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3492",
          "EFO:0007374",
          "GARD:0007051",
          "MEDGEN:10069",
          "MESH:D008947",
          "MedDRA:10027754",
          "NANDO:1200278",
          "NANDO:2200430",
          "NCIT:C84892",
          "NORD:1451",
          "Orphanet:809",
          "SCTID:398049005",
          "UMLS:C0026272",
          "icd11.foundation:891652224"
        ],
        "synonyms": [
          "MCTD",
          "sharp syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0005854"
    },
    {
      "id": 7538,
      "label": "Reye syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7203,
        7209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14525",
          "EFO:0007467",
          "GARD:0007570",
          "ICD10CM:G93.7",
          "ICD9:331.81",
          "MEDGEN:19772",
          "MESH:D012202",
          "MedDRA:10039012",
          "NCIT:C34983",
          "Orphanet:3096",
          "SCTID:74351001",
          "UMLS:C0035400",
          "icd11.foundation:649014905"
        ],
        "synonyms": [
          "Reye's syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use."
      },
      "child_count": 0,
      "reference_id": "MONDO:0005942"
    },
    {
      "id": 7607,
      "label": "Wissler syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3047",
          "MEDGEN:53087",
          "MESH:D014924",
          "UMLS:C0043195"
        ],
        "synonyms": [
          "Wissler syndrome",
          "Wissler's syndrome",
          "Wissler-Fanconi syndrome (finding)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate."
      },
      "child_count": 0,
      "reference_id": "MONDO:0006018"
    },
    {
      "id": 8476,
      "label": "acroosteolysis dominant type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        5126,
        7203,
        8475,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2736",
          "GARD:0000508",
          "ICD9:756.59",
          "MEDGEN:182961",
          "MESH:C531695",
          "MESH:C535663",
          "MESH:C537586",
          "NCIT:C84745",
          "NORD:1214",
          "OMIM:102500",
          "Orphanet:955",
          "SCTID:63122002",
          "UMLS:C0917715"
        ],
        "synonyms": [
          "Arthrodentoosteodysplasia",
          "Cheney syndrome",
          "Hajdu Cheney Syndrome",
          "Hajdu-Cheney syndrome",
          "Hajdu-Cheney syndrome-NOTCH2",
          "acrodentoosteodysplasia",
          "acroosteolysis with osteoporosis and changes in skull and mandible",
          "serpentine fibula polycystic kidney syndrome",
          "serpentine fibula-polycystic kidney syndrome",
          "serpentine fibula-polycystic kidneys syndrome",
          "HJCYS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A rare genetic osteolysis syndrome resulting from protein-truncating variants in exon 34 of the NOTCH2 gene. These variants disrupt only the PEST domain, escape nonsense-mediated decay, and are postulated to function through a gain-of-function mechanism. This condition is characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. Hearing loss, renal cysts, and cardiovascular anomalies are variably present."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007057"
    },
    {
      "id": 8717,
      "label": "chondrocalcinosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3545,
        7203,
        18954,
        21247,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001292",
          "MEDGEN:163633",
          "MESH:C563162",
          "NORD:930",
          "OMIM:118600",
          "Orphanet:1416",
          "UMLS:C0856830"
        ],
        "synonyms": [
          "Familial Calcium Pyrophosphate Deposition Disease",
          "calcium pyrophosphate dihydrate crystal deposition disease",
          "chondrocalcinosis 2",
          "chondrocalcinosis type 2",
          "familial CC",
          "familial CPPD",
          "familial articular chondrocalcinosis",
          "familial calcium pyrophosphate deposition",
          "familial calcium pyrophosphate dihydrate deposition disease",
          "hereditary CC",
          "hereditary articular chondrocalcinosis",
          "hereditary calcium pyrophosphate deposition",
          "CCAL2",
          "CPPDD",
          "Pseudogout, familial",
          "calcium gout",
          "calcium gout, familial",
          "calcium pyrophosphate arthropathy",
          "calcium pyrophosphate arthropathy, familial",
          "calcium pyrophosphate dihydrate deposition disease",
          "chondrocalcinosis familial articular",
          "chondrocalcinosis, familial articular"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007319"
    },
    {
      "id": 8805,
      "label": "Gorham-Stout disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4167,
        5126,
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006542",
          "ICD9:733.99",
          "MEDGEN:45248",
          "MedDRA:10071283",
          "NANDO:1200878",
          "NANDO:1200880",
          "NORD:1200",
          "OMIM:123880",
          "Orphanet:73",
          "SCTID:1515008",
          "UMLS:C0029438",
          "icd11.foundation:1318015458"
        ],
        "synonyms": [
          "Gorham disease",
          "Gorham syndrome",
          "Gorham-Stout disease",
          "idiopathic massive osteolysis",
          "progressive massive osteolysis",
          "vanishing bone disease",
          "cystic angiomatosis of bone diffuse",
          "cystic angiomatosis of bone, diffuse",
          "osteolysis massive",
          "osteolysis, massive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007414"
    },
    {
      "id": 9682,
      "label": "rheumatoid arthritis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3005,
        7203,
        7223
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:7148",
          "EFO:0000685",
          "HP:0001370",
          "ICD9:714.0",
          "MEDGEN:2078",
          "MESH:D001172",
          "NCIT:C2884",
          "OMIM:180300",
          "Orphanet:284130",
          "SCTID:69896004",
          "UMLS:C0003873",
          "icd11.foundation:576319925"
        ],
        "synonyms": [
          "RA",
          "rheumatoid arthritis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor."
      },
      "child_count": 21,
      "reference_id": "MONDO:0008383"
    },
    {
      "id": 10095,
      "label": "camptodactyly-arthropathy-coxa vara-pericarditis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7203,
        7611,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090127",
          "EFO:0009028",
          "GARD:0000306",
          "MEDGEN:349226",
          "MESH:C537560",
          "OMIM:208250",
          "Orphanet:2848",
          "UMLS:C1859690"
        ],
        "synonyms": [
          "CACP",
          "CACP syndrome",
          "Jacobs syndrome",
          "PAC syndrome",
          "arthropathy-camptodactyly syndrome",
          "camptodactyly-arthropathy-coxa vara-pericarditis syndrome",
          "camptodactyly-arthropathy-pericarditis syndrome",
          "pericarditis-arthropathy-camptodactyly syndrome",
          "arthropathy camptodactyly syndrome",
          "camptodactyly arthropathy coxa vara pericarditis syndrome",
          "camptodactyly arthropathy pericarditis syndrome",
          "camptodactyly-arthropathy-coxa-vara-pericarditis syndrome",
          "fibrosing serositis, familial",
          "hypertrophic synovitis, congenital familial",
          "pericarditis arthropathy camptodactyly syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008828"
    },
    {
      "id": 12534,
      "label": "juvenile idiopathic arthritis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7203,
        7223,
        24405
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:676",
          "EFO:0002609",
          "GARD:0018677",
          "ICD9:714.3",
          "ICD9:714.31",
          "ICD9:714.33",
          "MEDGEN:760659",
          "MESH:D001171",
          "MedDRA:10059177",
          "NANDO:1200469",
          "NANDO:2200415",
          "NCIT:C114357",
          "NORD:808",
          "OMIM:604302",
          "Orphanet:92",
          "SCTID:410502007",
          "UMLS:C3495559",
          "icd11.foundation:1322678686"
        ],
        "synonyms": [
          "Arthritis, Juvenile Rheumatoid",
          "JIA",
          "Juvenile idiopathic arthritis",
          "juvenile idiopathic arthritis",
          "juvenile rheumatoid arthritis",
          "rheumatoid arthritis, systemic juvenile, susceptibility to",
          "acute juvenile rheumatoid arthritis",
          "monarticular juvenile rheumatoid arthritis",
          "pauciarticular juvenile arthritis",
          "pauciarticular onset juvenile chronic arthritis",
          "systemic juvenile rheumatoid arthritis",
          "juvenile chronic arthritis",
          "juvenile chronic polyarthritis",
          "rheumatoid arthritis, systemic juvenile"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases)."
      },
      "child_count": 18,
      "reference_id": "MONDO:0011429"
    },
    {
      "id": 13031,
      "label": "sweet syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7203,
        21247,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080746",
          "GARD:0000521",
          "ICD9:702.8",
          "MEDGEN:43097",
          "MESH:D016463",
          "MedDRA:10000748",
          "NCIT:C85177",
          "NORD:1749",
          "OMIM:608068",
          "Orphanet:3243",
          "SCTID:84625002",
          "UMLS:C0085077",
          "icd11.foundation:195212152"
        ],
        "synonyms": [
          "acute febrile neutrophilic dermatosis",
          "sweet syndrome",
          "Afnd",
          "Gomm button disease",
          "Gomm-button disease",
          "neutrophilic dermatosis, acute febrile"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011959"
    },
    {
      "id": 16899,
      "label": "dermatomyositis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4496,
        7203,
        19007
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10223",
          "EFO:0000398",
          "GARD:0006263",
          "ICD10CM:M33",
          "ICD9:710.3",
          "MEDGEN:8331",
          "MESH:D003882",
          "MedDRA:10012503",
          "NANDO:1200274",
          "NCIT:C26744",
          "NORD:1048",
          "Orphanet:221",
          "SCTID:396230008",
          "UMLS:C0011633",
          "icd11.foundation:739030149"
        ],
        "synonyms": [
          "DM",
          "dermatomyositis",
          "dermatopolymyositis",
          "adult dermatomyositis",
          "Amyopathic dermatomyositis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness."
      },
      "child_count": 33,
      "reference_id": "MONDO:0016367"
    },
    {
      "id": 17037,
      "label": "IL10-related early-onset inflammatory bowel disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        6965,
        7203,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013016",
          "MEDGEN:1661450",
          "NANDO:2200446",
          "Orphanet:238569",
          "UMLS:C4749850"
        ],
        "synonyms": [
          "IL10-related early-onset IBD",
          "IL10-related early-onset inflammatory bowel disease",
          "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome",
          "autosomal recessive early-onset IBD",
          "autosomal recessive early-onset inflammatory bowel disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma."
      },
      "child_count": 8,
      "reference_id": "MONDO:0016542"
    },
    {
      "id": 17134,
      "label": "unexplained long-lasting fever/inflammatory syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020699",
          "MEDGEN:1842329",
          "Orphanet:251332",
          "UMLS:C5679630"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016666"
    },
    {
      "id": 17248,
      "label": "myalgia-eosinophilia syndrome associated with tryptophan",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018775",
          "MEDGEN:698358",
          "MedDRA:10014952",
          "Orphanet:2582",
          "UMLS:C1275050"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016822"
    },
    {
      "id": 17686,
      "label": "reactive arthritis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7203,
        7223
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6196",
          "EFO:0007460",
          "GARD:0005693",
          "ICD9:099.3",
          "ICD9:711.3",
          "ICD9:711.30",
          "ICD9:711.40",
          "MEDGEN:39047",
          "MESH:D016918",
          "MedDRA:10003267",
          "MedDRA:10038294",
          "NCIT:C128332",
          "NORD:1650",
          "Orphanet:29207",
          "SCTID:129133005",
          "UMLS:C0085435"
        ],
        "synonyms": [
          "Fiessinger-Leroy disease",
          "Fiessinger-Leroy-Reiter syndrome",
          "Reiter syndrome",
          "Reiter's disease",
          "Reiter's syndrome",
          "arthritis urethritica",
          "polyarthritis enterica",
          "reactive arthritis",
          "venereal arthritis",
          "PIRA",
          "post-infectious arthritis",
          "post-infectious reactive arthropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017376"
    },
    {
      "id": 17992,
      "label": "rheumatic fever",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7203,
        8586,
        20720
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1586",
          "EFO:1001160",
          "GARD:0005699",
          "ICD10CM:I00-I02",
          "ICD9:390",
          "ICD9:390-392",
          "MEDGEN:48448",
          "MESH:D012213",
          "MedDRA:10039054",
          "NCIT:C34984",
          "NORD:1668",
          "Orphanet:3099",
          "SCTID:58718002",
          "UMLS:C0035436"
        ],
        "synonyms": [
          "ARF",
          "acute rheumatic fever",
          "inflammatory rheumatism"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017767"
    },
    {
      "id": 18189,
      "label": "intermittent hydrarthrosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021499",
          "ICD10CM:M12.4",
          "MEDGEN:508453",
          "Orphanet:329967",
          "SCTID:711286009",
          "UMLS:C0149910",
          "icd11.foundation:1855039383"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018015"
    },
    {
      "id": 18742,
      "label": "fibroblastic rheumatism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021958",
          "ICD9:729.0",
          "MEDGEN:724307",
          "Orphanet:477650",
          "SCTID:399964004",
          "UMLS:C1302753",
          "icd11.foundation:112300601"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018783"
    },
    {
      "id": 19069,
      "label": "interstitial granulomatous dermatitis with arthritis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6820,
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018940",
          "MEDGEN:1658052",
          "Orphanet:79099",
          "UMLS:C4751206"
        ],
        "synonyms": [
          "Ackerman dermatitis syndrome",
          "IGDA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019199"
    },
    {
      "id": 19180,
      "label": "scleroderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7203,
        8586
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:419",
          "EFO:1001993",
          "GARD:0018705",
          "HP:0100324",
          "MEDGEN:3770",
          "MedDRA:10039710",
          "NCIT:C26746",
          "Orphanet:801",
          "UMLS:C0011644"
        ],
        "synonyms": [
          "scleroderma",
          "scleroderma (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019340"
    },
    {
      "id": 19238,
      "label": "idiopathic juvenile osteoporosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6992,
        7203,
        21247,
        24405
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12559",
          "GARD:0006760",
          "ICD9:733.02",
          "MEDGEN:120494",
          "MESH:C537700",
          "NCIT:C119996",
          "OMIM:259750",
          "Orphanet:85193",
          "SCTID:3345002",
          "UMLS:C0264080",
          "icd11.foundation:183642011"
        ],
        "synonyms": [
          "IJO",
          "Ijo",
          "Paediatric osteoporosis",
          "Pediatric osteoporosis",
          "idiopathic juvenile osteoporosis",
          "juvenile osteoporosis",
          "osteoporosis, juvenile"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization childhood or adolescence that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. Onset usually occurs in the prepubertal period, between 8 and 12 years of age."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019409"
    },
    {
      "id": 19493,
      "label": "polymyalgia rheumatica",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:853",
          "EFO:0008518",
          "GARD:0004704",
          "ICD10CM:M35.3",
          "ICD9:725",
          "MEDGEN:19393",
          "MESH:D011111",
          "MedDRA:10068240",
          "NCIT:C85018",
          "NORD:1593",
          "Orphanet:93569",
          "SCTID:65323003",
          "UMLS:C0032533",
          "icd11.foundation:103940897"
        ],
        "synonyms": [
          "polymyalgia rheumatica",
          "rhizomelic pseudopolyarthritis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019735"
    },
    {
      "id": 19503,
      "label": "autoinflammatory syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051000",
          "ICD10CM:M04-M04",
          "MEDGEN:855741",
          "MedDRA:10072220",
          "NANDO:2100156",
          "NCIT:C119050",
          "Orphanet:93665",
          "UMLS:C3890737"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease."
      },
      "child_count": 74,
      "reference_id": "MONDO:0019751"
    },
    {
      "id": 19934,
      "label": "progeria-associated arthropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:99706"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020477"
    },
    {
      "id": 22750,
      "label": "LAMA5-related multisystemic syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        7203,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022146",
          "MEDGEN:1806009",
          "Orphanet:521450",
          "UMLS:C5681442"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder."
      },
      "child_count": 0,
      "reference_id": "MONDO:0033856"
    },
    {
      "id": 23093,
      "label": "rheumatic disease of mitral valve",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5647,
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:538824",
          "SCTID:83898004",
          "UMLS:C0264765"
        ],
        "synonyms": [
          "mitral valve rheumatologic disorder",
          "rheumatic disease of mitral valve",
          "rheumatologic disorder of mitral valve",
          "rheumatic mitral valve changes",
          "rheumatic mitral valve disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A rheumatologic disorder that involves the mitral valve."
      },
      "child_count": 0,
      "reference_id": "MONDO:0042967"
    },
    {
      "id": 23352,
      "label": "isolated sternocostoclavicular hyperostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020144",
          "MEDGEN:1640582",
          "Orphanet:178311",
          "SCTID:766711009",
          "UMLS:C4707796"
        ],
        "synonyms": [
          "isolated SCCH"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044355"
    }
  ],
  "roots": [
    {
      "id": 5762,
      "label": "connective tissue disorder"
    }
  ]
}