{
    "disease_id": "DOID:0061069",
    "recommended_name": {
        "id": "DOID:0061069",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061069",
        "name": "immunodeficiency 99",
        "description": "A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11."
    },
    "synonyms": [
        {
            "id": "DOID:0061069",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061069",
            "name": "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias",
            "description": ""
        },
        {
            "id": "MONDO:0030798",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030798",
            "name": "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias",
            "description": "An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment."
        },
        {
            "id": "MONDO:0030798",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030798",
            "name": "IMD99",
            "description": ""
        },
        {
            "id": "MONDO:0030798",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030798",
            "name": "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias",
            "description": ""
        },
        {
            "id": "MIM:619846",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619846",
            "name": "Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias",
            "description": "Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061069"
    ],
    "unlinked_id_list": []
}