{
    "disease_id": "DOID:0061054",
    "recommended_name": {
        "id": "DOID:0061054",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061054",
        "name": "immunodeficiency 84",
        "description": "A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0030333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030333",
            "name": "immunodeficiency 84",
            "description": ""
        },
        {
            "id": "MONDO:0030333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030333",
            "name": "IMD84",
            "description": ""
        },
        {
            "id": "MONDO:0030333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030333",
            "name": "immunodeficiency 84",
            "description": ""
        },
        {
            "id": "MONDO:0030333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030333",
            "name": "immunodeficiency due to IKZF3 deficiency",
            "description": ""
        },
        {
            "id": "MIM:619437",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619437",
            "name": "Immunodeficiency 84",
            "description": "Immunodeficiency 84"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061054"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061054",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061054",
            "categories": []
        },
        {
            "id": "MONDO:0030333",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030333",
            "categories": []
        },
        {
            "id": "MIM:619437",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619437",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O08900-1",
            "uniprot_ac": "O08900",
            "uniprot_id": "IKZF3_MOUSE",
            "refseq_ac": "NP_035901",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein Aiolos",
                    "type": "recommended"
                },
                {
                    "name": "Ikaros family zinc finger protein 3",
                    "type": "synonym"
                },
                {
                    "name": "ikaros family zinc finger protein 3",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Aiolos",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein, subfamily 1A, 3 (Aiolos)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ikzf3",
                    "type": "recommended"
                },
                {
                    "name": "5830411O07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Aiolos",
                    "type": "synonym"
                },
                {
                    "name": "Ikzf3",
                    "type": "synonym"
                },
                {
                    "name": "Zfpn1a3",
                    "type": "synonym"
                },
                {
                    "name": "Znfn1a3",
                    "type": "synonym"
                }
            ],
            "record_id": "O08900-1",
            "evidence": [
                {
                    "id": "0061054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061054"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UKT9-1",
            "uniprot_ac": "Q9UKT9",
            "uniprot_id": "IKZF3_HUMAN",
            "refseq_ac": "NP_001244337",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein Aiolos",
                    "type": "recommended"
                },
                {
                    "name": "Ikaros family zinc finger protein 3",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger DNA binding protein Aiolos",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Aiolos isoform 7",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein, subfamily 1A, 3 (Aiolos)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IKZF3",
                    "type": "recommended"
                },
                {
                    "name": "AIOLOS",
                    "type": "synonym"
                },
                {
                    "name": "AIO",
                    "type": "synonym"
                },
                {
                    "name": "IKZF3",
                    "type": "synonym"
                },
                {
                    "name": "IMD84",
                    "type": "synonym"
                },
                {
                    "name": "ZNFN1A3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UKT9-1",
            "evidence": [
                {
                    "id": "619437",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619437"
                },
                {
                    "id": "0061054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061054"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZSW3-1",
            "uniprot_ac": "D3ZSW3",
            "uniprot_id": "D3ZSW3_RAT",
            "refseq_ac": "NP_001100517",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "IKAROS family zinc finger 3",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Aiolos",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein, subfamily 1A, 3 (Aiolos)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ikzf3",
                    "type": "recommended"
                },
                {
                    "name": "Ikzf3",
                    "type": "synonym"
                },
                {
                    "name": "Zfpn1a3",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZSW3-1",
            "evidence": [
                {
                    "id": "0061054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061054"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061054"
}