{
    "disease_id": "DOID:0061096",
    "recommended_name": {
        "id": "DOID:0061096",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0061096",
        "name": "immunodeficiency 133",
        "description": "A primary immunodeficiency disease that is characterized recurrent infections and features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25. The disorder results from dysregulation of the actin cytoskeleton that affects certain cell lineages."
    },
    "synonyms": [
        {
            "id": "DOID:0061096",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061096",
            "name": "immunodeficiency 133 with autoimmunity and autoinflammation",
            "description": ""
        },
        {
            "id": "MONDO:0957920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957920",
            "name": "immunodeficiency 113 with autoimmunity and autoinflammation",
            "description": ""
        },
        {
            "id": "MIM:620565",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620565",
            "name": "Immunodeficiency 113 with autoimmunity and autoinflammation",
            "description": "Immunodeficiency 113 with autoimmunity and autoinflammation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061096"
    ],
    "unlinked_id_list": []
}