{
    "disease_id": "DOID:0112061",
    "recommended_name": {
        "id": "DOID:0112061",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112061",
        "name": "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia",
        "description": "A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112061",
            "name": "IMD73B",
            "description": ""
        },
        {
            "id": "MONDO:0033554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033554",
            "name": "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia",
            "description": ""
        },
        {
            "id": "MONDO:0033554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033554",
            "name": "IMD73B",
            "description": ""
        },
        {
            "id": "MONDO:0033554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033554",
            "name": "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia",
            "description": ""
        },
        {
            "id": "MIM:618986",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618986",
            "name": "Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia",
            "description": "Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112061"
    ],
    "unlinked_id_list": []
}