{
    "disease_id": "DOID:0061063",
    "recommended_name": {
        "id": "DOID:0061063",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061063",
        "name": "immunodeficiency 93",
        "description": "A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31."
    },
    "synonyms": [
        {
            "id": "DOID:0061063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061063",
            "name": "immunodeficiency-93 and hypertrophic cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0030528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030528",
            "name": "immunodeficiency 93 and hypertrophic cardiomyopathy",
            "description": "An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects."
        },
        {
            "id": "MONDO:0030528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030528",
            "name": "IMD93",
            "description": ""
        },
        {
            "id": "MONDO:0030528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030528",
            "name": "immunodeficiency and hypertrophic cardiomyopathy",
            "description": ""
        },
        {
            "id": "MIM:619705",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619705",
            "name": "Immunodeficiency 93 and hypertrophic cardiomyopathy",
            "description": "Immunodeficiency 93 and hypertrophic cardiomyopathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061063"
    ],
    "unlinked_id_list": []
}