{
    "disease_id": "DOID:0112062",
    "recommended_name": {
        "id": "DOID:0112062",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112062",
        "name": "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia",
        "description": "A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "DOID:0112062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112062",
            "name": "IMD73C",
            "description": ""
        },
        {
            "id": "MONDO:0033555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033555",
            "name": "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0033555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033555",
            "name": "IMD73C",
            "description": ""
        },
        {
            "id": "MONDO:0033555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033555",
            "name": "IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA",
            "description": ""
        },
        {
            "id": "MIM:618987",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618987",
            "name": "Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia",
            "description": "Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112062"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112062",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112062",
            "categories": []
        },
        {
            "id": "MONDO:0033555",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033555",
            "categories": []
        },
        {
            "id": "MIM:618987",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618987",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q05144-1",
            "uniprot_ac": "Q05144",
            "uniprot_id": "RAC2_MOUSE",
            "refseq_ac": "NP_033034",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related C3 botulinum toxin substrate 2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "EN-7 protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein EN-7",
                    "type": "synonym"
                },
                {
                    "name": "RAS-related C3 botulinum substrate 2",
                    "type": "synonym"
                },
                {
                    "name": "p21-Rac2",
                    "type": "synonym"
                },
                {
                    "name": "protein EN-7",
                    "type": "synonym"
                },
                {
                    "name": "ras-related C3 botulinum toxin substrate 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rac2",
                    "type": "recommended"
                },
                {
                    "name": "Rac2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05144-1",
            "evidence": [
                {
                    "id": "0112062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112062"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15153-1",
            "uniprot_ac": "P15153",
            "uniprot_id": "RAC2_HUMAN",
            "refseq_ac": "NP_002863",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related C3 botulinum toxin substrate 2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "GX",
                    "type": "synonym"
                },
                {
                    "name": "Ras-related C3 botulinum toxin substrate 3 (rho family, small GTP-binding protein Rac2)",
                    "type": "synonym"
                },
                {
                    "name": "Small G protein",
                    "type": "synonym"
                },
                {
                    "name": "p21-Rac2",
                    "type": "synonym"
                },
                {
                    "name": "ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)",
                    "type": "synonym"
                },
                {
                    "name": "ras-related C3 botulinum toxin substrate 2",
                    "type": "synonym"
                },
                {
                    "name": "small G protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAC2",
                    "type": "recommended"
                },
                {
                    "name": "EN-7",
                    "type": "synonym"
                },
                {
                    "name": "Gx",
                    "type": "synonym"
                },
                {
                    "name": "HSPC022",
                    "type": "synonym"
                },
                {
                    "name": "IMD73A",
                    "type": "synonym"
                },
                {
                    "name": "IMD73B",
                    "type": "synonym"
                },
                {
                    "name": "IMD73C",
                    "type": "synonym"
                },
                {
                    "name": "RAC2",
                    "type": "synonym"
                },
                {
                    "name": "p21-Rac2",
                    "type": "synonym"
                }
            ],
            "record_id": "P15153-1",
            "evidence": [
                {
                    "id": "618987",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618987"
                },
                {
                    "id": "0112062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112062"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7EM94-1",
            "uniprot_ac": "F7EM94",
            "uniprot_id": "F7EM94_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": "small monomeric GTPase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rac2",
                    "type": "recommended"
                }
            ],
            "record_id": "F7EM94-1",
            "evidence": [
                {
                    "id": "0112062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112062"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40792-1",
            "uniprot_ac": "P40792",
            "uniprot_id": "RAC1_DROME",
            "refseq_ac": "NP_001261247",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rac1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "CG2248-PB",
                    "type": "synonym"
                },
                {
                    "name": "Rac GTPase",
                    "type": "synonym"
                },
                {
                    "name": "Rac1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Rac1-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rac1",
                    "type": "recommended"
                },
                {
                    "name": "2248",
                    "type": "synonym"
                },
                {
                    "name": "CED-10",
                    "type": "synonym"
                },
                {
                    "name": "CG2248",
                    "type": "synonym"
                },
                {
                    "name": "D-Rac 1",
                    "type": "synonym"
                },
                {
                    "name": "D-Rac1",
                    "type": "synonym"
                },
                {
                    "name": "D-Rac",
                    "type": "synonym"
                },
                {
                    "name": "DRac1",
                    "type": "synonym"
                },
                {
                    "name": "DRacA",
                    "type": "synonym"
                },
                {
                    "name": "DRac",
                    "type": "synonym"
                },
                {
                    "name": "Dm Rac1",
                    "type": "synonym"
                },
                {
                    "name": "DmRAC1",
                    "type": "synonym"
                },
                {
                    "name": "DmRAC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2248",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2248",
                    "type": "synonym"
                },
                {
                    "name": "Dmrac1",
                    "type": "synonym"
                },
                {
                    "name": "Drac1a",
                    "type": "synonym"
                },
                {
                    "name": "Drac1",
                    "type": "synonym"
                },
                {
                    "name": "DracA",
                    "type": "synonym"
                },
                {
                    "name": "Drac",
                    "type": "synonym"
                },
                {
                    "name": "GTPase Rac1",
                    "type": "synonym"
                },
                {
                    "name": "P40792",
                    "type": "synonym"
                },
                {
                    "name": "RAC1",
                    "type": "synonym"
                },
                {
                    "name": "Rac GTPase",
                    "type": "synonym"
                },
                {
                    "name": "Rac-1",
                    "type": "synonym"
                },
                {
                    "name": "Rac-GTP",
                    "type": "synonym"
                },
                {
                    "name": "Rac1",
                    "type": "synonym"
                },
                {
                    "name": "Rac3",
                    "type": "synonym"
                },
                {
                    "name": "RacA",
                    "type": "synonym"
                },
                {
                    "name": "Rac",
                    "type": "synonym"
                },
                {
                    "name": "dRac1",
                    "type": "synonym"
                },
                {
                    "name": "dRac",
                    "type": "synonym"
                },
                {
                    "name": "drac1",
                    "type": "synonym"
                },
                {
                    "name": "rac-1",
                    "type": "synonym"
                },
                {
                    "name": "rac1",
                    "type": "synonym"
                },
                {
                    "name": "rac",
                    "type": "synonym"
                }
            ],
            "record_id": "P40792-1",
            "evidence": [
                {
                    "id": "0112062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112062"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48554-1",
            "uniprot_ac": "P48554",
            "uniprot_id": "RAC2_DROME",
            "refseq_ac": "NP_001261517",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rac2",
                    "type": "recommended"
                },
                {
                    "name": "CG8556-PB",
                    "type": "synonym"
                },
                {
                    "name": "Rac GTPase",
                    "type": "synonym"
                },
                {
                    "name": "Rac2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Rac2-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rac2",
                    "type": "recommended"
                },
                {
                    "name": "CG8556",
                    "type": "synonym"
                },
                {
                    "name": "D-Rac 2",
                    "type": "synonym"
                },
                {
                    "name": "D-Rac2",
                    "type": "synonym"
                },
                {
                    "name": "DRac2",
                    "type": "synonym"
                },
                {
                    "name": "DRacB",
                    "type": "synonym"
                },
                {
                    "name": "DmRAC2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8556",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8556",
                    "type": "synonym"
                },
                {
                    "name": "Drac1b",
                    "type": "synonym"
                },
                {
                    "name": "Drac2",
                    "type": "synonym"
                },
                {
                    "name": "P48554",
                    "type": "synonym"
                },
                {
                    "name": "RAC1B",
                    "type": "synonym"
                },
                {
                    "name": "Rac GTPase",
                    "type": "synonym"
                },
                {
                    "name": "Rac-2",
                    "type": "synonym"
                },
                {
                    "name": "Rac1b",
                    "type": "synonym"
                },
                {
                    "name": "Rac1",
                    "type": "synonym"
                },
                {
                    "name": "Rac2",
                    "type": "synonym"
                },
                {
                    "name": "RacB",
                    "type": "synonym"
                },
                {
                    "name": "Rac",
                    "type": "synonym"
                },
                {
                    "name": "Rhog",
                    "type": "synonym"
                },
                {
                    "name": "rac2",
                    "type": "synonym"
                }
            ],
            "record_id": "P48554-1",
            "evidence": [
                {
                    "id": "0112062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112062"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112062"
}