{
    "disease_id": "DOID:14179",
    "recommended_name": {
        "id": "DOID:14179",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14179",
        "name": "X-linked agammaglobulinemia",
        "description": "An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement."
    },
    "synonyms": [
        {
            "id": "DOID:14179",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14179",
            "name": "BTK deficiency",
            "description": ""
        },
        {
            "id": "DOID:14179",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14179",
            "name": "Bruton's Sex-Linked Agammaglobulinemia",
            "description": ""
        },
        {
            "id": "DOID:14179",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14179",
            "name": "Bruton's agammaglobulinaemia",
            "description": ""
        },
        {
            "id": "DOID:14179",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14179",
            "name": "Bruton's type agammaglobulinemia",
            "description": ""
        },
        {
            "id": "DOID:14179",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14179",
            "name": "Bruton-type agammaglobulinemia",
            "description": ""
        },
        {
            "id": "DOID:14179",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14179",
            "name": "Bruton agammaglobulinemia tyrosine kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "Bruton-type agammaglobulinemia",
            "description": "X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy."
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "Bruton's agammaglobulinaemia",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "agammaglobulinemia, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "agammaglobulinemia, BTK",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "Bruton-type agammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "BTK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "X-linked agammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "Bruton agammaglobulinemia tyrosine kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "hypogammaglobulinemia, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "agammaglobulinemia, X-linked; XLA",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "Bruton's Sex-linked agammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "agammaglobulinemia, Bruton tyrosine kinase",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "Bruton's type agammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "Bruton's agammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "agammaglobulinemia, X-linked, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "Bruton's X-linked agammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "Bruton type agammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "BTK-deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "immunodeficiency 1",
            "description": ""
        },
        {
            "id": "MONDO:0010421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010421",
            "name": "XLA",
            "description": ""
        },
        {
            "id": "MIM:300755",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300755",
            "name": "X-linked agammaglobulinemia",
            "description": "X-linked agammaglobulinemia"
        }
    ]
}