{
    "disease_id": "DOID:0111991",
    "recommended_name": {
        "id": "DOID:0111991",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111991",
        "name": "immunodeficiency 62",
        "description": "A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111991",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111991",
            "name": "IMD62",
            "description": ""
        },
        {
            "id": "MONDO:0032763",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032763",
            "name": "immunodeficiency 62",
            "description": ""
        },
        {
            "id": "MONDO:0032763",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032763",
            "name": "immunodeficiency 62",
            "description": ""
        },
        {
            "id": "MONDO:0032763",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032763",
            "name": "IMD62",
            "description": ""
        },
        {
            "id": "MIM:618459",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618459",
            "name": "Immunodeficiency 62",
            "description": "Immunodeficiency 62"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111991"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111991",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111991",
            "categories": []
        },
        {
            "id": "MONDO:0032763",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032763",
            "categories": []
        },
        {
            "id": "MIM:618459",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618459",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P7X5-1",
            "uniprot_ac": "A0A8M9P7X5",
            "uniprot_id": "A0A8M9P7X5_DANRE",
            "refseq_ac": "XP_021322373",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "arhgef1",
                    "type": "recommended"
                },
                {
                    "name": "arhgef1b",
                    "type": "synonym"
                },
                {
                    "name": "arhgef1",
                    "type": "synonym"
                },
                {
                    "name": "im:7155372",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136551",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P7X5-1",
            "evidence": [
                {
                    "id": "0111991",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111991"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB13A992-1",
            "uniprot_ac": "A0AB13A992",
            "uniprot_id": "A0AB13A992_DANRE",
            "refseq_ac": "NP_001410313",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 2",
                    "type": "recommended"
                },
                {
                    "name": "Guanine nucleotide exchange factor H1",
                    "type": "synonym"
                },
                {
                    "name": "Rho guanine nucleotide exchange factor (GEF) 1a",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor (GEF) 1",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 1a",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "arhgef2a",
                    "type": "recommended"
                },
                {
                    "name": "arhgef1a",
                    "type": "synonym"
                },
                {
                    "name": "arhgef1",
                    "type": "synonym"
                },
                {
                    "name": "arhgef2a",
                    "type": "synonym"
                },
                {
                    "name": "cb473",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-240h12.3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158261",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A992-1",
            "evidence": [
                {
                    "id": "0111991",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111991"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61210-1",
            "uniprot_ac": "Q61210",
            "uniprot_id": "ARHG1_MOUSE",
            "refseq_ac": "NP_001123622",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Lbc's second cousin",
                    "type": "synonym"
                },
                {
                    "name": "Lymphoid blast crisis-like 2",
                    "type": "synonym"
                },
                {
                    "name": "Rho guanine nucleotide exchange factor (GEF) 1",
                    "type": "synonym"
                },
                {
                    "name": "lbc's second cousin",
                    "type": "synonym"
                },
                {
                    "name": "lymphoid blast crisis-like 2",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 1 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arhgef1",
                    "type": "recommended"
                },
                {
                    "name": "Arhgef1",
                    "type": "synonym"
                },
                {
                    "name": "Lbcl2",
                    "type": "synonym"
                },
                {
                    "name": "Lsc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61210-1",
            "evidence": [
                {
                    "id": "0111991",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111991"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92888-1",
            "uniprot_ac": "Q92888",
            "uniprot_id": "ARHG1_HUMAN",
            "refseq_ac": "NP_004697",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 1",
                    "type": "recommended"
                },
                {
                    "name": "115 kDa guanine nucleotide exchange factor",
                    "type": "synonym"
                },
                {
                    "name": "115-kD protein",
                    "type": "synonym"
                },
                {
                    "name": "Lsc homolog",
                    "type": "synonym"
                },
                {
                    "name": "Rho guanine nucleotide exchange factor (GEF) 1",
                    "type": "synonym"
                },
                {
                    "name": "Sub1.5",
                    "type": "synonym"
                },
                {
                    "name": "p115-RhoGEF",
                    "type": "synonym"
                },
                {
                    "name": "p115RhoGEF",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARHGEF1",
                    "type": "recommended"
                },
                {
                    "name": "ARHGEF1",
                    "type": "synonym"
                },
                {
                    "name": "GEF1",
                    "type": "synonym"
                },
                {
                    "name": "IMD62",
                    "type": "synonym"
                },
                {
                    "name": "LBCL2",
                    "type": "synonym"
                },
                {
                    "name": "LSC",
                    "type": "synonym"
                },
                {
                    "name": "P115-RHOGEF",
                    "type": "synonym"
                },
                {
                    "name": "SUB1.5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92888-1",
            "evidence": [
                {
                    "id": "618459",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618459"
                },
                {
                    "id": "0111991",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111991"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z1I6-1",
            "uniprot_ac": "Q9Z1I6",
            "uniprot_id": "ARHG1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Lbc's second cousin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arhgef1",
                    "type": "recommended"
                },
                {
                    "name": "Lsc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1I6-1",
            "evidence": [
                {
                    "id": "0111991",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111991"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZAN6-1",
            "uniprot_ac": "A1ZAN6",
            "uniprot_id": "A1ZAN6_DROME",
            "refseq_ac": "NP_477317",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG9635-PD",
                    "type": "synonym"
                },
                {
                    "name": "Rho guanine nucleotide exchange factor 2, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Rho guanine nucleotide exchange factor 2, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "RhoGEF2-PD",
                    "type": "synonym"
                },
                {
                    "name": "akkordion",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide exchange factor 2",
                    "type": "synonym"
                },
                {
                    "name": "shar pei",
                    "type": "synonym"
                },
                {
                    "name": "transcription unit 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RhoGEF2",
                    "type": "recommended"
                },
                {
                    "name": "CG9635",
                    "type": "synonym"
                },
                {
                    "name": "DRhoGEF2",
                    "type": "synonym"
                },
                {
                    "name": "DRhoGEF",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9635",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9635",
                    "type": "synonym"
                },
                {
                    "name": "DrhoGEF2",
                    "type": "synonym"
                },
                {
                    "name": "Gef2",
                    "type": "synonym"
                },
                {
                    "name": "RG2",
                    "type": "synonym"
                },
                {
                    "name": "Rho-GEF2",
                    "type": "synonym"
                },
                {
                    "name": "RhoGEF2",
                    "type": "synonym"
                },
                {
                    "name": "RhoGEF",
                    "type": "synonym"
                },
                {
                    "name": "RhoGF2",
                    "type": "synonym"
                },
                {
                    "name": "RhoGef2",
                    "type": "synonym"
                },
                {
                    "name": "Su(Rho1)2B",
                    "type": "synonym"
                },
                {
                    "name": "T2",
                    "type": "synonym"
                },
                {
                    "name": "dRhoGEF2",
                    "type": "synonym"
                },
                {
                    "name": "dRhoGEF",
                    "type": "synonym"
                },
                {
                    "name": "l(2)04291",
                    "type": "synonym"
                },
                {
                    "name": "rhoGEF2",
                    "type": "synonym"
                },
                {
                    "name": "rhogef2",
                    "type": "synonym"
                },
                {
                    "name": "shar",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZAN6-1",
            "evidence": [
                {
                    "id": "0111991",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111991"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111991"
}