{
    "disease_id": "DOID:0061057",
    "recommended_name": {
        "id": "DOID:0061057",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0061057",
        "name": "immunodeficiency 87",
        "description": "A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia."
    },
    "synonyms": [
        {
            "id": "DOID:0061057",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061057",
            "name": "immunodeficiency 87 and autoimmunity",
            "description": ""
        },
        {
            "id": "MONDO:0030457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030457",
            "name": "immunodeficiency 87 and autoimmunity",
            "description": "An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation."
        },
        {
            "id": "MONDO:0030457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030457",
            "name": "IMD87",
            "description": ""
        },
        {
            "id": "MONDO:0030457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030457",
            "name": "immunodeficiency due to DEF6 deficiency",
            "description": ""
        },
        {
            "id": "MIM:619573",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619573",
            "name": "Immunodeficiency 87 and autoimmunity",
            "description": "Immunodeficiency 87 and autoimmunity"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061057"
    ],
    "unlinked_id_list": []
}