{
    "disease_id": "DOID:0111947",
    "recommended_name": {
        "id": "DOID:0111947",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111947",
        "name": "immunodeficiency 21",
        "description": "A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111947",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111947",
            "name": "combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections",
            "description": ""
        },
        {
            "id": "DOID:0111947",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111947",
            "name": "DCML",
            "description": ""
        },
        {
            "id": "DOID:0111947",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111947",
            "name": "GATA2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111947",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111947",
            "name": "IMD21",
            "description": ""
        },
        {
            "id": "DOID:0111947",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111947",
            "name": "MonoMAC",
            "description": ""
        },
        {
            "id": "DOID:0111947",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111947",
            "name": "monocytopenia and mycobacterial infection syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111947",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111947",
            "name": "monocytopenia with susceptibility to infections",
            "description": ""
        },
        {
            "id": "DOID:0111947",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111947",
            "name": "monocyte-B-natural killer-dendritic cell deficiency syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111947",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111947",
            "name": "dendritic cell, monocyte, B and NK lymphoid deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013607",
            "name": "monocytopenia with susceptibility to infections",
            "description": ""
        },
        {
            "id": "MONDO:0013607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013607",
            "name": "MonoMAC",
            "description": ""
        },
        {
            "id": "MONDO:0013607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013607",
            "name": "immunodeficiency type 21",
            "description": ""
        },
        {
            "id": "MONDO:0013607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013607",
            "name": "monocytopenia and mycobacterial infection syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013607",
            "name": "DCML",
            "description": ""
        },
        {
            "id": "MONDO:0013607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013607",
            "name": "IMD21",
            "description": ""
        },
        {
            "id": "MONDO:0013607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013607",
            "name": "immunodeficiency 21",
            "description": ""
        },
        {
            "id": "MONDO:0013607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013607",
            "name": "monocyte - B - natural killer - dendritic cell deficiency",
            "description": ""
        },
        {
            "id": "MIM:614172",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614172",
            "name": "Immunodeficiency 21",
            "description": "Immunodeficiency 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111947"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111947",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111947",
            "categories": []
        },
        {
            "id": "MONDO:0013607",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013607",
            "categories": []
        },
        {
            "id": "MIM:614172",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614172",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QD30-1",
            "uniprot_ac": "F1QD30",
            "uniprot_id": "F1QD30_DANRE",
            "refseq_ac": "NP_001002689",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelial transcription factor GATA-2b",
                    "type": "synonym"
                },
                {
                    "name": "endothelial transcription factor GATA-2b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gata2b",
                    "type": "recommended"
                },
                {
                    "name": "gata2b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91840",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QD30-1",
            "evidence": [
                {
                    "id": "0111947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3AXB8-1",
            "uniprot_ac": "A0A8M3AXB8",
            "uniprot_id": "A0A8M3AXB8_DANRE",
            "refseq_ac": "XP_009304056",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelial transcription factor GATA-2a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "endothelial transcription factor GATA-2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gata2a",
                    "type": "recommended"
                },
                {
                    "name": "gata2a",
                    "type": "synonym"
                },
                {
                    "name": "gata2",
                    "type": "synonym"
                },
                {
                    "name": "zg2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AXB8-1",
            "evidence": [
                {
                    "id": "0111947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O09100-1",
            "uniprot_ac": "O09100",
            "uniprot_id": "GATA2_MOUSE",
            "refseq_ac": "NP_032116",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelial transcription factor GATA-2",
                    "type": "recommended"
                },
                {
                    "name": "GATA-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "endothelial transcription factor GATA-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gata2",
                    "type": "recommended"
                },
                {
                    "name": "Gata-2",
                    "type": "synonym"
                },
                {
                    "name": "Gata2",
                    "type": "synonym"
                }
            ],
            "record_id": "O09100-1",
            "evidence": [
                {
                    "id": "0111947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23769-1",
            "uniprot_ac": "P23769",
            "uniprot_id": "GATA2_HUMAN",
            "refseq_ac": "NP_001139133",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelial transcription factor GATA-2",
                    "type": "recommended"
                },
                {
                    "name": "GATA-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "endothelial transcription factor GATA-2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "endothelial transcription factor GATA-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GATA2",
                    "type": "recommended"
                },
                {
                    "name": "DCML",
                    "type": "synonym"
                },
                {
                    "name": "GATA2",
                    "type": "synonym"
                },
                {
                    "name": "IMD21",
                    "type": "synonym"
                },
                {
                    "name": "MONOMAC",
                    "type": "synonym"
                },
                {
                    "name": "NFE1B",
                    "type": "synonym"
                }
            ],
            "record_id": "P23769-1",
            "evidence": [
                {
                    "id": "614172",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614172"
                },
                {
                    "id": "0111947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42944-1",
            "uniprot_ac": "P42944",
            "uniprot_id": "GZF3_YEAST",
            "refseq_ac": "NP_012425",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein GZF3",
                    "type": "recommended"
                },
                {
                    "name": "Gzf3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GZF3",
                    "type": "recommended"
                },
                {
                    "name": "DEH1",
                    "type": "synonym"
                },
                {
                    "name": "GZF3",
                    "type": "synonym"
                },
                {
                    "name": "J0806",
                    "type": "synonym"
                },
                {
                    "name": "NIL2",
                    "type": "synonym"
                }
            ],
            "record_id": "P42944-1",
            "evidence": [
                {
                    "id": "0111947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26343-1",
            "uniprot_ac": "P26343",
            "uniprot_id": "DAL80_YEAST",
            "refseq_ac": "NP_012959",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nitrogen regulatory protein DAL80",
                    "type": "recommended"
                },
                {
                    "name": "Dal80p",
                    "type": "synonym"
                },
                {
                    "name": "Regulatory protein UGA43",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DAL80",
                    "type": "recommended"
                },
                {
                    "name": "DAL80",
                    "type": "synonym"
                },
                {
                    "name": "UGA43",
                    "type": "synonym"
                }
            ],
            "record_id": "P26343-1",
            "evidence": [
                {
                    "id": "0111947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43574-1",
            "uniprot_ac": "P43574",
            "uniprot_id": "GAT1_YEAST",
            "refseq_ac": "NP_116632",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional regulatory protein GAT1",
                    "type": "recommended"
                },
                {
                    "name": "Gat1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GAT1",
                    "type": "recommended"
                },
                {
                    "name": "GAT1",
                    "type": "synonym"
                },
                {
                    "name": "MEP80",
                    "type": "synonym"
                },
                {
                    "name": "NIL1",
                    "type": "synonym"
                }
            ],
            "record_id": "P43574-1",
            "evidence": [
                {
                    "id": "0111947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q924Y4-1",
            "uniprot_ac": "Q924Y4",
            "uniprot_id": "GATA2_RAT",
            "refseq_ac": "NP_254277",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelial transcription factor GATA-2",
                    "type": "recommended"
                },
                {
                    "name": "GATA-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "GATA-bindning protein 2",
                    "type": "synonym"
                },
                {
                    "name": "endothelial transcription factor GATA-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gata2",
                    "type": "recommended"
                },
                {
                    "name": "Gata2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q924Y4-1",
            "evidence": [
                {
                    "id": "0111947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P91623-1",
            "uniprot_ac": "P91623",
            "uniprot_id": "GATAC_DROME",
            "refseq_ac": "NP_731211",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATA-binding factor C",
                    "type": "recommended"
                },
                {
                    "name": "CG9656-PA",
                    "type": "synonym"
                },
                {
                    "name": "GATA-factor-c",
                    "type": "synonym"
                },
                {
                    "name": "Protein grain",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor GATA-C",
                    "type": "synonym"
                },
                {
                    "name": "dGATA-C",
                    "type": "synonym"
                },
                {
                    "name": "grain, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "grain",
                    "type": "synonym"
                },
                {
                    "name": "grn-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal(3)84Fa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grn",
                    "type": "recommended"
                },
                {
                    "name": "CG9656-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG9656",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9656",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9656",
                    "type": "synonym"
                },
                {
                    "name": "GATAc",
                    "type": "synonym"
                },
                {
                    "name": "GRAIN",
                    "type": "synonym"
                },
                {
                    "name": "Gata-c",
                    "type": "synonym"
                },
                {
                    "name": "Gata2",
                    "type": "synonym"
                },
                {
                    "name": "Grn",
                    "type": "synonym"
                },
                {
                    "name": "dGATA-2",
                    "type": "synonym"
                },
                {
                    "name": "dGATAc",
                    "type": "synonym"
                },
                {
                    "name": "dGatac",
                    "type": "synonym"
                },
                {
                    "name": "gra",
                    "type": "synonym"
                },
                {
                    "name": "grn",
                    "type": "synonym"
                },
                {
                    "name": "l(3)84Fa",
                    "type": "synonym"
                }
            ],
            "record_id": "P91623-1",
            "evidence": [
                {
                    "id": "0111947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61803-1",
            "uniprot_ac": "P61803",
            "uniprot_id": "DAD1_HUMAN",
            "refseq_ac": "NP_001335",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1",
                    "type": "recommended"
                },
                {
                    "name": "DAD-1",
                    "type": "synonym"
                },
                {
                    "name": "Defender against cell death 1",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit DAD1",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyl transferase subunit DAD1",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyltransferase 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyltransferase subunit 2 (non-catalytic)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DAD1",
                    "type": "recommended"
                },
                {
                    "name": "DAD1",
                    "type": "synonym"
                },
                {
                    "name": "OST2",
                    "type": "synonym"
                }
            ],
            "record_id": "P61803-1",
            "evidence": [
                {
                    "id": "0111947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111947"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111947"
}