{
    "disease_id": "DOID:0061057",
    "recommended_name": {
        "id": "DOID:0061057",
        "resource": "Disease Ontology",
        "url": "https://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": "https://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": [],
    "crossref": [
        {
            "id": "DOID:0061057",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061057",
            "categories": []
        },
        {
            "id": "MONDO:0030457",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030457",
            "categories": []
        },
        {
            "id": "MIM:619573",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619573",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SYB5-1",
            "uniprot_ac": "Q7SYB5",
            "uniprot_id": "DEFI6_DANRE",
            "refseq_ac": "NP_957334",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Differentially expressed in FDCP 6 homolog",
                    "type": "recommended"
                },
                {
                    "name": "differentially expressed in FDCP 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "differentially expressed in FDCP 6a homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "def6a",
                    "type": "recommended"
                },
                {
                    "name": "def6",
                    "type": "recommended"
                },
                {
                    "name": "Def6",
                    "type": "synonym"
                },
                {
                    "name": "def6a",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-6n6.5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63721",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SYB5-1",
            "evidence": [
                {
                    "id": "0061057",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061057"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C2K1-1",
            "uniprot_ac": "Q8C2K1",
            "uniprot_id": "DEFI6_MOUSE",
            "refseq_ac": "NP_081461",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Differentially expressed in FDCP 6",
                    "type": "recommended"
                },
                {
                    "name": "DEF-6",
                    "type": "synonym"
                },
                {
                    "name": "IRF-4-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "IRF4-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "SWAP-70-like adapter of T-cells",
                    "type": "synonym"
                },
                {
                    "name": "differentially expressed in FDCP 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Def6",
                    "type": "recommended"
                },
                {
                    "name": "2410003F05Rik",
                    "type": "synonym"
                },
                {
                    "name": "6430538D02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Def6",
                    "type": "synonym"
                },
                {
                    "name": "Ibp",
                    "type": "synonym"
                },
                {
                    "name": "Slat2",
                    "type": "synonym"
                },
                {
                    "name": "Slat6",
                    "type": "synonym"
                },
                {
                    "name": "Slat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C2K1-1",
            "evidence": [
                {
                    "id": "0061057",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061057"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H4E7-1",
            "uniprot_ac": "Q9H4E7",
            "uniprot_id": "DEFI6_HUMAN",
            "refseq_ac": "NP_071330",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Differentially expressed in FDCP 6 homolog",
                    "type": "recommended"
                },
                {
                    "name": "DEF-6",
                    "type": "synonym"
                },
                {
                    "name": "IRF4-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "SWAP-70-like adaptor protein of T cells",
                    "type": "synonym"
                },
                {
                    "name": "differentially expressed in FDCP 6 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DEF6",
                    "type": "recommended"
                },
                {
                    "name": "DEF6",
                    "type": "synonym"
                },
                {
                    "name": "IBP",
                    "type": "synonym"
                },
                {
                    "name": "IMD87",
                    "type": "synonym"
                },
                {
                    "name": "SLAT",
                    "type": "synonym"
                },
                {
                    "name": "SWAP70L",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H4E7-1",
            "evidence": [
                {
                    "id": "619573",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619573"
                },
                {
                    "id": "0061057",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061057"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZCK4-1",
            "uniprot_ac": "D3ZCK4",
            "uniprot_id": "D3ZCK4_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "IRF4-binding protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Def6",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZCK4-1",
            "evidence": [
                {
                    "id": "0061057",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061057"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061057"
}