{
    "disease_id": "DOID:0112064",
    "recommended_name": {
        "id": "DOID:0112064",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112064",
        "name": "immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis",
        "description": "A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in RAC2 on chromosome 22q13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112064",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112064",
            "name": "IMD73A",
            "description": ""
        },
        {
            "id": "DOID:0112064",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112064",
            "name": "neutrophil immunodeficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011988",
            "name": "neutrophil immunodeficiency syndrome",
            "description": "Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas."
        },
        {
            "id": "MONDO:0011988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011988",
            "name": "neutrophil immunodeficiency syndrome",
            "description": ""
        },
        {
            "id": "MIM:608203",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608203",
            "name": "Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis",
            "description": "Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis"
        }
    ]
}