{
    "disease_id": "DOID:0081155",
    "recommended_name": {
        "id": "DOID:0081155",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081155",
        "name": "common variable immunodeficiency 13",
        "description": "A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12."
    },
    "synonyms": [
        {
            "id": "MONDO:0014810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014810",
            "name": "pancytopenia due to IKZF1 mutations",
            "description": "Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene."
        },
        {
            "id": "MONDO:0014810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014810",
            "name": "CVID13",
            "description": ""
        },
        {
            "id": "MONDO:0014810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014810",
            "name": "Cid due to IKAROS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014810",
            "name": "IKZF1 syndrome with combined immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014810",
            "name": "combined immunodeficiency due to IKAROS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014810",
            "name": "immunodeficiency, common variable, 13",
            "description": ""
        },
        {
            "id": "MONDO:0014810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014810",
            "name": "immunodeficiency, common variable, type 13",
            "description": ""
        },
        {
            "id": "MONDO:0014810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014810",
            "name": "syndrome with combined immunodeficiency caused by mutation in IKZF1",
            "description": ""
        },
        {
            "id": "MIM:616873",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616873",
            "name": "Immunodeficiency, common variable, 13",
            "description": "Immunodeficiency, common variable, 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081155"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081155",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081155",
            "categories": []
        },
        {
            "id": "MONDO:0014810",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014810",
            "categories": []
        },
        {
            "id": "MIM:616873",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616873",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B2N6-1",
            "uniprot_ac": "A0A8M2B2N6",
            "uniprot_id": "A0A8M2B2N6_DANRE",
            "refseq_ac": "XP_005156675",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-binding protein Ikaros isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ikzf1",
                    "type": "recommended"
                },
                {
                    "name": "ikaros",
                    "type": "synonym"
                },
                {
                    "name": "ikzf1",
                    "type": "synonym"
                },
                {
                    "name": "znfn1a1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B2N6-1",
            "evidence": [
                {
                    "id": "0081155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03267-1",
            "uniprot_ac": "Q03267",
            "uniprot_id": "IKZF1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-binding protein Ikaros",
                    "type": "recommended"
                },
                {
                    "name": "Ikaros family zinc finger protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Lymphoid transcription factor LyF-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ikzf1",
                    "type": "recommended"
                },
                {
                    "name": "Ikaros",
                    "type": "synonym"
                },
                {
                    "name": "Lyf1",
                    "type": "synonym"
                },
                {
                    "name": "Zfpn1a1",
                    "type": "synonym"
                },
                {
                    "name": "Znfn1a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03267-1",
            "evidence": [
                {
                    "id": "0081155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13422-1",
            "uniprot_ac": "Q13422",
            "uniprot_id": "IKZF1_HUMAN",
            "refseq_ac": "NP_001207694",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-binding protein Ikaros",
                    "type": "recommended"
                },
                {
                    "name": "CLL-associated antigen KW-6",
                    "type": "synonym"
                },
                {
                    "name": "DNA-binding protein Ikaros isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA-binding protein Ikaros",
                    "type": "synonym"
                },
                {
                    "name": "Ikaros family zinc finger protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Lymphoid transcription factor LyF-1",
                    "type": "synonym"
                },
                {
                    "name": "ikaros family zinc finger protein 1",
                    "type": "synonym"
                },
                {
                    "name": "lymphoid transcription factor LyF-1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 92",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein, subfamily 1A, 1 (Ikaros)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IKZF1",
                    "type": "recommended"
                },
                {
                    "name": "CVID13",
                    "type": "synonym"
                },
                {
                    "name": "Hs.54452",
                    "type": "synonym"
                },
                {
                    "name": "IK1",
                    "type": "synonym"
                },
                {
                    "name": "IKAROS",
                    "type": "synonym"
                },
                {
                    "name": "IKZF1",
                    "type": "synonym"
                },
                {
                    "name": "LYF1",
                    "type": "synonym"
                },
                {
                    "name": "LyF-1",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R92",
                    "type": "synonym"
                },
                {
                    "name": "PRO0758",
                    "type": "synonym"
                },
                {
                    "name": "ZNFN1A1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13422-1",
            "evidence": [
                {
                    "id": "616873",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616873"
                },
                {
                    "id": "0081155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JVD9-1",
            "uniprot_ac": "A0A0G2JVD9",
            "uniprot_id": "A0A0G2JVD9_RAT",
            "refseq_ac": "XP_006251556",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-binding protein Ikaros isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "IKAROS family zinc finger 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ikzf1",
                    "type": "recommended"
                },
                {
                    "name": "Ikzf1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1562979",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JVD9-1",
            "evidence": [
                {
                    "id": "0081155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081155"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081155"
}