{
    "disease_id": "DOID:0081142",
    "recommended_name": {
        "id": "DOID:0081142",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081142",
        "name": "agammaglobulinemia 10",
        "description": "An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0030529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030529",
            "name": "agammaglobulinemia 10, autosomal dominant",
            "description": "An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported."
        },
        {
            "id": "MONDO:0030529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030529",
            "name": "AGM10",
            "description": ""
        },
        {
            "id": "MIM:619707",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619707",
            "name": "Agammaglobulinemia 10, autosomal dominant",
            "description": "Agammaglobulinemia 10, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081142"
    ],
    "unlinked_id_list": []
}