{
    "disease_id": "DOID:0081141",
    "recommended_name": {
        "id": "DOID:0081141",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081141",
        "name": "agammaglobulinemia 9",
        "description": "An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0030519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030519",
            "name": "agammaglobulinemia 9, autosomal recessive",
            "description": "An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy."
        },
        {
            "id": "MONDO:0030519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030519",
            "name": "AGM9",
            "description": ""
        },
        {
            "id": "MIM:619693",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619693",
            "name": "Agammaglobulinemia 9, autosomal recessive",
            "description": "Agammaglobulinemia 9, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081141"
    ],
    "unlinked_id_list": []
}