{
    "disease_id": "DOID:0112004",
    "recommended_name": {
        "id": "DOID:0112004",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112004",
        "name": "immunodeficiency 71",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0112004",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112004",
            "name": "PLTEID",
            "description": ""
        },
        {
            "id": "DOID:0112004",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112004",
            "name": "IMD71",
            "description": ""
        },
        {
            "id": "DOID:0112004",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112004",
            "name": "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease",
            "description": ""
        },
        {
            "id": "DOID:0112004",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112004",
            "name": "immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0060583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060583",
            "name": "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease",
            "description": ""
        },
        {
            "id": "MONDO:0060583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060583",
            "name": "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PLTEID",
            "description": ""
        },
        {
            "id": "MONDO:0060583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060583",
            "name": "PLTEID",
            "description": ""
        },
        {
            "id": "MIM:617718",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617718",
            "name": "Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia",
            "description": "Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia"
        }
    ]
}