{
    "disease_id": "DOID:0111949",
    "recommended_name": {
        "id": "DOID:0111949",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111949",
        "name": "immunodeficiency 36",
        "description": "A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111949",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111949",
            "name": "activated phosphoinositide 3-kinase delta syndrome 2",
            "description": ""
        },
        {
            "id": "DOID:0111949",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111949",
            "name": "IMD36",
            "description": ""
        },
        {
            "id": "DOID:0111949",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111949",
            "name": "immunodeficiency-36 with lymphoproliferation",
            "description": ""
        },
        {
            "id": "MONDO:0014453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014453",
            "name": "immunodeficiency 36 with lymphoproliferation",
            "description": "A primary immunodeficiency disease in which the cause of the disease is a mutation in PIK3R1 gene. It is characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity."
        },
        {
            "id": "MONDO:0014453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014453",
            "name": "APDS2",
            "description": ""
        },
        {
            "id": "MONDO:0014453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014453",
            "name": "IMD36",
            "description": ""
        },
        {
            "id": "MONDO:0014453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014453",
            "name": "activated PI3K-delta syndrome-2",
            "description": ""
        },
        {
            "id": "MONDO:0014453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014453",
            "name": "immunodeficiency 36",
            "description": ""
        },
        {
            "id": "MONDO:0014453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014453",
            "name": "immunodeficiency type 36",
            "description": ""
        },
        {
            "id": "MIM:616005",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616005",
            "name": "Immunodeficiency 36 with lymphoproliferation",
            "description": "Immunodeficiency 36 with lymphoproliferation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111949"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111949",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111949",
            "categories": []
        },
        {
            "id": "MONDO:0014453",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014453",
            "categories": []
        },
        {
            "id": "MIM:616005",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616005",
            "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": "0111949",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111949"
                }
            ]
        },
        {
            "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": "0111949",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111949"
                }
            ]
        },
        {
            "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": "616005",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616005"
                },
                {
                    "id": "0111949",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111949"
                }
            ]
        },
        {
            "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": "0111949",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111949"
                }
            ]
        },
        {
            "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": "0111949",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111949"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111949"
}