{
    "disease_id": "DOID:0112004", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0060583", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0060583", 
            "name": "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0060583", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0060583", 
            "name": "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PLTEID"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0060583", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0060583", 
            "name": "PLTEID"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112004", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112004", 
            "name": "PLTEID"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112004", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112004", 
            "name": "IMD71"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112004", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112004", 
            "name": "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112004", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112004", 
            "name": "immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia"
        }, 
        {
            "url": "https://www.omim.org/entry/617718", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:617718", 
            "name": "Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0112004", 
        "description": "A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in ARPC1B on chromosome 7q22.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0112004", 
        "name": "immunodeficiency 71"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/617718", 
            "id": "617718", 
            "database": "MIM"
        }
    ]
}