{
  "id": 9814,
  "label": "Blau syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008523",
  "properties": {
    "xrefs": [
      "DOID:0050678",
      "GARD:0000304",
      "ICD9:692.9",
      "ICD9:714.89",
      "MEDGEN:1684759",
      "MESH:C538157",
      "MedDRA:10071755",
      "NANDO:1200476",
      "NANDO:2200434",
      "NCIT:C116794",
      "OMIM:186580",
      "OMIM:609464",
      "Orphanet:90340",
      "Orphanet:90341",
      "SCTID:699861000",
      "UMLS:C5201146",
      "icd11.foundation:382488319"
    ],
    "synonyms": [
      "BLAUS",
      "Blau syndrome",
      "EOS",
      "Jabs syndrome",
      "arthrocutaneouveal granulomatosis",
      "early-onset sarcoidosis",
      "granulomatosis, familial juvenile systemic",
      "granulomatosis, familial, Blau type",
      "granulomatous inflammatory arthritis, dermatitis, and uveitis, familial",
      "paediatric granulomatous arthritis",
      "pediatric granulomatous arthritis",
      "sarcoidosis, early-onset",
      "ACUG",
      "synovitis granulomatous with uveitis and cranial neuropathies",
      "synovitis, granulomatous, with uveitis and cranial neuropathies"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19178,
      "label": "sarcoidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19503
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11335",
          "GARD:0007607",
          "ICD10CM:D86",
          "ICD10WHO:D86",
          "MEDGEN:48554",
          "MESH:D012507",
          "MedDRA:10039486",
          "NANDO:1200415",
          "NCIT:C34995",
          "NORD:1690",
          "Orphanet:797",
          "SCTID:31541009",
          "UMLS:C0036202",
          "icd11.foundation:330792642"
        ],
        "synonyms": [
          "Besnier-Boeck-Schaumann disease",
          "Boeck sarcoid",
          "Boeck's sarcoid",
          "Boeck's sarcoidosis",
          "Darier-Roussy sarcoid",
          "besnier-Boeck-Schaumann syndrome",
          "sarcoid",
          "sarcoidosis",
          "benign lymphogranulomatosis of Schaumann",
          "lupus pernio of Besnier",
          "miliary lupoid of boeck"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs."
      },
      "child_count": 8,
      "reference_id": "MONDO:0019338"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19178,
      "label": "sarcoidosis"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    }
  ]
}