{
    "disease_id": "DOID:0050678",
    "recommended_name": {
        "id": "DOID:0050678",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050678",
        "name": "Blau syndrome",
        "description": "A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050678",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050678",
            "name": "ARTHROCUTANEOUVEAL GRANULOMATOSIS",
            "description": ""
        },
        {
            "id": "DOID:0050678",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050678",
            "name": "BLAUS",
            "description": ""
        },
        {
            "id": "DOID:0050678",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050678",
            "name": "Jabs syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "Blau syndrome",
            "description": "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."
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "BLAUS",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "Blau syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "EOS",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "Jabs syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "arthrocutaneouveal granulomatosis",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "early-onset sarcoidosis",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "granulomatosis, familial juvenile systemic",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "granulomatosis, familial, Blau type",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "granulomatous inflammatory arthritis, dermatitis, and uveitis, familial",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "paediatric granulomatous arthritis",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "pediatric granulomatous arthritis",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "sarcoidosis, early-onset",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "ACUG",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "synovitis granulomatous with uveitis and cranial neuropathies",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "synovitis, granulomatous, with uveitis and cranial neuropathies",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "Blau syndrome",
            "description": "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."
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "BLAUS",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "Blau syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "EOS",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "Jabs syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "arthrocutaneouveal granulomatosis",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "early-onset sarcoidosis",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "granulomatosis, familial juvenile systemic",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "granulomatosis, familial, Blau type",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "granulomatous inflammatory arthritis, dermatitis, and uveitis, familial",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "paediatric granulomatous arthritis",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "pediatric granulomatous arthritis",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "sarcoidosis, early-onset",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "ACUG",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "synovitis granulomatous with uveitis and cranial neuropathies",
            "description": ""
        },
        {
            "id": "MONDO:0008523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008523",
            "name": "synovitis, granulomatous, with uveitis and cranial neuropathies",
            "description": ""
        },
        {
            "id": "MIM:186580",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/186580",
            "name": "Blau syndrome",
            "description": "Blau syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050678"
    ],
    "unlinked_id_list": []
}