{
    "disease_id": "DOID:0112062",
    "recommended_name": {
        "id": "DOID:0112062",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112062",
        "name": "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia",
        "description": "A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "DOID:0112062",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112062",
            "name": "IMD73C",
            "description": ""
        },
        {
            "id": "MONDO:0033555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033555",
            "name": "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0033555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033555",
            "name": "IMD73C",
            "description": ""
        },
        {
            "id": "MONDO:0033555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033555",
            "name": "IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA",
            "description": ""
        },
        {
            "id": "MIM:618987",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618987",
            "name": "Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia",
            "description": "Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia"
        }
    ]
}