{
    "disease_id": "DOID:0111952", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020849", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020849", 
            "name": "IMD57"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020849", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020849", 
            "name": "IMMUNODEFICIENCY 57; IMD57"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111952", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111952", 
            "name": "IMD57"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111952", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111952", 
            "name": "immunodeficiency 57 with autoinflammation"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111952", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111952", 
            "name": "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111952", 
        "description": "A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in RIPK1 on chromosome 6p25.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111952", 
        "name": "immunodeficiency 57"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111952#disease-associations", 
            "id": "0111952", 
            "database": "Alliance of Genome Resources"
        }
    ]
}