{
    "disease_id": "DOID:0081139",
    "recommended_name": {
        "id": "DOID:0081139",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081139",
        "name": "agammaglobulinemia 7",
        "description": "An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014083",
            "name": "agammaglobulinemia 7, autosomal recessive",
            "description": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene."
        },
        {
            "id": "MONDO:0014083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014083",
            "name": "PIK3R1 autosomal agammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0014083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014083",
            "name": "agammaglobulinemia 7, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014083",
            "name": "autosomal agammaglobulinemia caused by mutation in PIK3R1",
            "description": ""
        },
        {
            "id": "MONDO:0014083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014083",
            "name": "AGM7",
            "description": ""
        },
        {
            "id": "MIM:615214",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615214",
            "name": "Agammaglobulinemia 7, autosomal recessive",
            "description": "Agammaglobulinemia 7, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081139"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081139",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081139",
            "categories": []
        },
        {
            "id": "MONDO:0014083",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014083",
            "categories": []
        },
        {
            "id": "MIM:615214",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615214",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0S6V7-1",
            "uniprot_ac": "B0S6V7",
            "uniprot_id": "B0S6V7_DANRE",
            "refseq_ac": "NP_001268773",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 3-kinase regulatory subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-3-kinase, regulatory subunit 1 (p85 alpha)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pik3r1",
                    "type": "recommended"
                },
                {
                    "name": "pik3r1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb65b05",
                    "type": "synonym"
                }
            ],
            "record_id": "B0S6V7-1",
            "evidence": [
                {
                    "id": "0081139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081139"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26450-1",
            "uniprot_ac": "P26450",
            "uniprot_id": "P85A_MOUSE",
            "refseq_ac": "NP_001070963",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 3-kinase regulatory subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "PI3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase subunit p85-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3K regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase regulatory subunit p85-alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase regulatory subunit alpha isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pik3r1",
                    "type": "recommended"
                },
                {
                    "name": "PI3K",
                    "type": "synonym"
                },
                {
                    "name": "Pik3r1",
                    "type": "synonym"
                },
                {
                    "name": "p50alpha",
                    "type": "synonym"
                },
                {
                    "name": "p55alpha",
                    "type": "synonym"
                },
                {
                    "name": "p85alpha",
                    "type": "synonym"
                }
            ],
            "record_id": "P26450-1",
            "evidence": [
                {
                    "id": "0081139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081139"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27986-1",
            "uniprot_ac": "P27986",
            "uniprot_id": "P85A_HUMAN",
            "refseq_ac": "NP_001229395",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 3-kinase regulatory subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "PI3 kinase-associated p85",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase subunit p85-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3K regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase regulatory subunit p85-alpha",
                    "type": "synonym"
                },
                {
                    "name": "growth factor receptor bound 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase regulatory subunit alpha isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase-associated p-85 alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-3-kinase, regulatory subunit 1 (alpha)",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase regulatory subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIK3R1",
                    "type": "recommended"
                },
                {
                    "name": "AGM7",
                    "type": "synonym"
                },
                {
                    "name": "GRB1",
                    "type": "synonym"
                },
                {
                    "name": "IMD36",
                    "type": "synonym"
                },
                {
                    "name": "PIK3R1",
                    "type": "synonym"
                },
                {
                    "name": "p85-ALPHA",
                    "type": "synonym"
                },
                {
                    "name": "p85alpha",
                    "type": "synonym"
                },
                {
                    "name": "p85",
                    "type": "synonym"
                }
            ],
            "record_id": "P27986-1",
            "evidence": [
                {
                    "id": "615214",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615214"
                },
                {
                    "id": "0081139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081139"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63787-1",
            "uniprot_ac": "Q63787",
            "uniprot_id": "P85A_RAT",
            "refseq_ac": "NP_037137",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 3-kinase regulatory subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "PI3-kinase p85 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase subunit p85-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3K regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide 3-kinase p85 (other splicing variants: p55 and p50)",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase regulatory subunit p85-alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase p85 alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-3-kinase, regulatory subunit 1 (alpha)",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase p85-alpha",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase regulatory subunit p85-alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pik3r1",
                    "type": "recommended"
                },
                {
                    "name": "PI3KA",
                    "type": "synonym"
                },
                {
                    "name": "Pik3r1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63787-1",
            "evidence": [
                {
                    "id": "0081139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081139"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KTZ2-1",
            "uniprot_ac": "Q7KTZ2",
            "uniprot_id": "Q7KTZ2_DROME",
            "refseq_ac": "NP_001259817",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG2699-PE",
                    "type": "synonym"
                },
                {
                    "name": "PI 3-kinase",
                    "type": "synonym"
                },
                {
                    "name": "PI3 kinase",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase",
                    "type": "synonym"
                },
                {
                    "name": "Pi3K21B, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Pi3K21B, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "Pi3K21B-PE",
                    "type": "synonym"
                },
                {
                    "name": "dPI 3-kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pi3K21B",
                    "type": "recommended"
                },
                {
                    "name": "CG2699",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2699",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2699",
                    "type": "synonym"
                },
                {
                    "name": "Dp60",
                    "type": "synonym"
                },
                {
                    "name": "P60",
                    "type": "synonym"
                },
                {
                    "name": "PI(3)K",
                    "type": "synonym"
                },
                {
                    "name": "PI3 kinase",
                    "type": "synonym"
                },
                {
                    "name": "PI3K-p60",
                    "type": "synonym"
                },
                {
                    "name": "PI3K-reg",
                    "type": "synonym"
                },
                {
                    "name": "PI3K21B",
                    "type": "synonym"
                },
                {
                    "name": "PI3K",
                    "type": "synonym"
                },
                {
                    "name": "PI[[3]]K",
                    "type": "synonym"
                },
                {
                    "name": "Pi3K21B",
                    "type": "synonym"
                },
                {
                    "name": "Pi3Kp60",
                    "type": "synonym"
                },
                {
                    "name": "Pi3K",
                    "type": "synonym"
                },
                {
                    "name": "Pi3k21B",
                    "type": "synonym"
                },
                {
                    "name": "Pi3ks",
                    "type": "synonym"
                },
                {
                    "name": "dP60",
                    "type": "synonym"
                },
                {
                    "name": "dPI3K",
                    "type": "synonym"
                },
                {
                    "name": "deltap60",
                    "type": "synonym"
                },
                {
                    "name": "dp60",
                    "type": "synonym"
                },
                {
                    "name": "droPIK57",
                    "type": "synonym"
                },
                {
                    "name": "p60",
                    "type": "synonym"
                },
                {
                    "name": "p85",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KTZ2-1",
            "evidence": [
                {
                    "id": "0081139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081139"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081139"
}