{
    "disease_id": "DOID:0061067",
    "recommended_name": {
        "id": "DOID:0061067",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061067",
        "name": "immunodeficiency 97",
        "description": "A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22."
    },
    "synonyms": [
        {
            "id": "DOID:0061067",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061067",
            "name": "immunodeficiency 97 with autoinflammation",
            "description": ""
        },
        {
            "id": "MONDO:0030717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030717",
            "name": "immunodeficiency 97 with autoinflammation",
            "description": "An autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported."
        },
        {
            "id": "MONDO:0030717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030717",
            "name": "IMD97",
            "description": ""
        },
        {
            "id": "MONDO:0030717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030717",
            "name": "immunodeficiency 97 with autoinflammation",
            "description": ""
        },
        {
            "id": "MIM:619802",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619802",
            "name": "Immunodeficiency 97 with autoinflammation",
            "description": "Immunodeficiency 97 with autoinflammation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061067"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061067",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061067",
            "categories": []
        },
        {
            "id": "MONDO:0030717",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030717",
            "categories": []
        },
        {
            "id": "MIM:619802",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619802",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q5U7-1",
            "uniprot_ac": "A0A8M9Q5U7",
            "uniprot_id": "A0A8M9Q5U7_DANRE",
            "refseq_ac": "XP_021330656",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.137",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.153",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.154",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide-3-kinase catalytic gamma polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine protein kinase PIK3CG",
                    "type": "synonym"
                },
                {
                    "name": "p120-PI3K",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pik3cg",
                    "type": "recommended"
                },
                {
                    "name": "pik3cg",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb15d07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77033",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q5U7-1",
            "evidence": [
                {
                    "id": "0061067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JHG7-1",
            "uniprot_ac": "Q9JHG7",
            "uniprot_id": "PK3CG_MOUSE",
            "refseq_ac": "NP_001139672",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.137",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.153",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.154",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "PI3K-gamma",
                    "type": "synonym"
                },
                {
                    "name": "PI3Kgamma",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide-3-kinase catalytic gamma polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase subunit p110-gamma",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine protein kinase PIK3CG",
                    "type": "synonym"
                },
                {
                    "name": "p110gamma",
                    "type": "synonym"
                },
                {
                    "name": "p120-PI3K",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-3-kinase, catalytic, gamma polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase subunit p110-gamma",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase PIK3CG",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pik3cg",
                    "type": "recommended"
                },
                {
                    "name": "5830428L06Rik",
                    "type": "synonym"
                },
                {
                    "name": "PI3Kgamma",
                    "type": "synonym"
                },
                {
                    "name": "Pi3kg1",
                    "type": "synonym"
                },
                {
                    "name": "Pik3cg",
                    "type": "synonym"
                },
                {
                    "name": "p110gamma",
                    "type": "synonym"
                },
                {
                    "name": "p120-PI3K",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JHG7-1",
            "evidence": [
                {
                    "id": "0061067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48736-1",
            "uniprot_ac": "P48736",
            "uniprot_id": "PK3CG_HUMAN",
            "refseq_ac": "NP_001269355",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 3-kinase",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.137",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.153",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.154",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "PI3K-gamma",
                    "type": "synonym"
                },
                {
                    "name": "PI3Kgamma",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide-3-kinase catalytic gamma polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase subunit p110-gamma",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine protein kinase PIK3CG",
                    "type": "synonym"
                },
                {
                    "name": "p110gamma",
                    "type": "synonym"
                },
                {
                    "name": "p120-PI3K",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3 kinase gamma, p110 gamma",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase catalytic 110-kD gamma",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-3-kinase gamma catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase subunit p110-gamma",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase PIK3CG",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIK3CG",
                    "type": "recommended"
                },
                {
                    "name": "IMD97",
                    "type": "synonym"
                },
                {
                    "name": "PI3CG",
                    "type": "synonym"
                },
                {
                    "name": "PI3Kgamma",
                    "type": "synonym"
                },
                {
                    "name": "PI3K",
                    "type": "synonym"
                },
                {
                    "name": "PIK3CG",
                    "type": "synonym"
                },
                {
                    "name": "PIK3",
                    "type": "synonym"
                },
                {
                    "name": "p110gamma",
                    "type": "synonym"
                },
                {
                    "name": "p120-PI3K",
                    "type": "synonym"
                }
            ],
            "record_id": "P48736-1",
            "evidence": [
                {
                    "id": "619802",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619802"
                },
                {
                    "id": "0061067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AKZ7-1",
            "uniprot_ac": "A0A8I6AKZ7",
            "uniprot_id": "A0A8I6AKZ7_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": "Phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pik3cg",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AKZ7-1",
            "evidence": [
                {
                    "id": "0061067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061067"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061067"
}