{
    "disease_id": "DOID:0081142",
    "recommended_name": {
        "id": "DOID:0081142",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081142",
        "name": "agammaglobulinemia 10",
        "description": "An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system, and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0030529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030529",
            "name": "agammaglobulinemia 10, autosomal dominant",
            "description": "An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported."
        },
        {
            "id": "MONDO:0030529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030529",
            "name": "AGM10",
            "description": ""
        },
        {
            "id": "MIM:619707",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619707",
            "name": "Agammaglobulinemia 10, autosomal dominant",
            "description": "Agammaglobulinemia 10, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081142"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081142",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081142",
            "categories": []
        },
        {
            "id": "MONDO:0030529",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030529",
            "categories": []
        },
        {
            "id": "MIM:619707",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619707",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QFB6-1",
            "uniprot_ac": "F1QFB6",
            "uniprot_id": "F1QFB6_DANRE",
            "refseq_ac": "NP_001417886",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor PU.1a",
                    "type": "synonym"
                },
                {
                    "name": "spleen focus forming virus (SFFV) proviral integration oncogene spi1 like",
                    "type": "synonym"
                },
                {
                    "name": "spleen focus forming virus (SFFV) proviral integration oncogene spi1a",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor PU.1a",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor pu.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spi1a",
                    "type": "recommended"
                },
                {
                    "name": "spi1a",
                    "type": "synonym"
                },
                {
                    "name": "spi1l",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152991",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QFB6-1",
            "evidence": [
                {
                    "id": "0081142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8AW41-1",
            "uniprot_ac": "Q8AW41",
            "uniprot_id": "Q8AW41_DANRE",
            "refseq_ac": "NP_001315298",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor PU.1b isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "spleen focus forming virus (SFFV) proviral integration oncogene spi1b",
                    "type": "synonym"
                },
                {
                    "name": "spleen focus forming virus (SFFV) proviral integration oncogene spi1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor PU.1b isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor spi1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spi1b",
                    "type": "recommended"
                },
                {
                    "name": "cb1086",
                    "type": "synonym"
                },
                {
                    "name": "pu.1",
                    "type": "synonym"
                },
                {
                    "name": "pu1",
                    "type": "synonym"
                },
                {
                    "name": "sfpi1",
                    "type": "synonym"
                },
                {
                    "name": "si:by184l24.2",
                    "type": "synonym"
                },
                {
                    "name": "spi1b",
                    "type": "synonym"
                },
                {
                    "name": "spi1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8AW41-1",
            "evidence": [
                {
                    "id": "0081142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17433-1",
            "uniprot_ac": "P17433",
            "uniprot_id": "SPI1_MOUSE",
            "refseq_ac": "NP_035485",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor PU.1",
                    "type": "recommended"
                },
                {
                    "name": "31 kDa-transforming protein",
                    "type": "synonym"
                },
                {
                    "name": "SFFV proviral integration 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "hematopoietic transcription factor PU.1",
                    "type": "synonym"
                },
                {
                    "name": "spleen focus forming virus (SFFV) proviral integration oncogene",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor PU.1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spi1",
                    "type": "recommended"
                },
                {
                    "name": "Dis-1",
                    "type": "synonym"
                },
                {
                    "name": "Dis1",
                    "type": "synonym"
                },
                {
                    "name": "PU.1",
                    "type": "synonym"
                },
                {
                    "name": "Sfpi-1",
                    "type": "synonym"
                },
                {
                    "name": "Sfpi1",
                    "type": "synonym"
                },
                {
                    "name": "Spi-1",
                    "type": "synonym"
                },
                {
                    "name": "Spi1",
                    "type": "synonym"
                },
                {
                    "name": "Tcfpu1",
                    "type": "synonym"
                },
                {
                    "name": "Tfpu.1",
                    "type": "synonym"
                }
            ],
            "record_id": "P17433-1",
            "evidence": [
                {
                    "id": "0081142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17947-1",
            "uniprot_ac": "P17947",
            "uniprot_id": "SPI1_HUMAN",
            "refseq_ac": "NP_001074016",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor PU.1",
                    "type": "recommended"
                },
                {
                    "name": "31 kDa transforming protein",
                    "type": "synonym"
                },
                {
                    "name": "31 kDa-transforming protein",
                    "type": "synonym"
                },
                {
                    "name": "hematopoietic transcription factor PU.1",
                    "type": "synonym"
                },
                {
                    "name": "spleen focus forming virus (SFFV) proviral integration oncogene spi1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor PU.1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPI1",
                    "type": "recommended"
                },
                {
                    "name": "AGM10",
                    "type": "synonym"
                },
                {
                    "name": "OF",
                    "type": "synonym"
                },
                {
                    "name": "PU.1",
                    "type": "synonym"
                },
                {
                    "name": "SFPI1",
                    "type": "synonym"
                },
                {
                    "name": "SPI-1",
                    "type": "synonym"
                },
                {
                    "name": "SPI-A",
                    "type": "synonym"
                },
                {
                    "name": "SPI1",
                    "type": "synonym"
                }
            ],
            "record_id": "P17947-1",
            "evidence": [
                {
                    "id": "619707",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619707"
                },
                {
                    "id": "0081142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6BDS1-1",
            "uniprot_ac": "Q6BDS1",
            "uniprot_id": "SPI1_RAT",
            "refseq_ac": "NP_001005892",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor PU.1",
                    "type": "recommended"
                },
                {
                    "name": "SFFV proviral integration 1",
                    "type": "synonym"
                },
                {
                    "name": "hematopoietic transcription factor PU.1",
                    "type": "synonym"
                },
                {
                    "name": "spleen focus forming virus (SFFV) proviral integration oncogene spi1",
                    "type": "synonym"
                },
                {
                    "name": "spleen focus forming virus proviral integration oncogene spi1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor PU.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spi1",
                    "type": "recommended"
                },
                {
                    "name": "Pu.1",
                    "type": "synonym"
                },
                {
                    "name": "Sfpi1",
                    "type": "synonym"
                },
                {
                    "name": "Spi1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6BDS1-1",
            "evidence": [
                {
                    "id": "0081142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081142"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081142"
}