{
    "disease_id": "DOID:0070615",
    "recommended_name": {
        "id": "DOID:0070615",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070615",
        "name": "autoinflammation, antibody deficiency, and immune dysregulation syndrome",
        "description": "An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in the PLCG2 gene on chromosome 16q23."
    },
    "synonyms": [
        {
            "id": "DOID:0070615",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070615",
            "name": "APLAID",
            "description": ""
        },
        {
            "id": "DOID:0070615",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070615",
            "name": "autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation",
            "description": ""
        },
        {
            "id": "MONDO:0013944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013944",
            "name": "autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation",
            "description": ""
        },
        {
            "id": "MONDO:0013944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013944",
            "name": "APLAID",
            "description": ""
        },
        {
            "id": "MONDO:0013944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013944",
            "name": "AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated",
            "description": ""
        },
        {
            "id": "MIM:614878",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614878",
            "name": "Autoinflammation, antibody deficiency, and immune dysregulation",
            "description": "Autoinflammation, antibody deficiency, and immune dysregulation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070615"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070615",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070615",
            "categories": []
        },
        {
            "id": "MONDO:0013944",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013944",
            "categories": []
        },
        {
            "id": "MIM:614878",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614878",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LWV7-1",
            "uniprot_ac": "Q1LWV7",
            "uniprot_id": "MEAK7_DANRE",
            "refseq_ac": "NP_001038430",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "MTOR-associated protein MEAK7",
                    "type": "recommended"
                },
                {
                    "name": "MEAK7",
                    "type": "synonym"
                },
                {
                    "name": "MTOR-associated protein MEAK7",
                    "type": "synonym"
                },
                {
                    "name": "TBC/LysM-associated domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "TBC/LysM-associated domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TLD domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "meak7",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1609",
                    "type": "synonym"
                },
                {
                    "name": "fj85b03",
                    "type": "synonym"
                },
                {
                    "name": "meak7",
                    "type": "synonym"
                },
                {
                    "name": "plcg2",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu1064",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-260p9.2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-260p9.6",
                    "type": "synonym"
                },
                {
                    "name": "tldc1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj85b03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152893",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153621",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LWV7-1",
            "evidence": [
                {
                    "id": "0070615",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070615"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CIH5-1",
            "uniprot_ac": "Q8CIH5",
            "uniprot_id": "PLCG2_MOUSE",
            "refseq_ac": "NP_758489",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C-gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C-gamma-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plcg2",
                    "type": "recommended"
                },
                {
                    "name": "PLC-gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "PLCgamma2",
                    "type": "synonym"
                },
                {
                    "name": "Plcg-2",
                    "type": "synonym"
                },
                {
                    "name": "Plcg2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CIH5-1",
            "evidence": [
                {
                    "id": "0070615",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070615"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16885-1",
            "uniprot_ac": "P16885",
            "uniprot_id": "PLCG2_HUMAN",
            "refseq_ac": "NP_002652",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-IV",
                    "type": "synonym"
                },
                {
                    "name": "PLC-gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C-gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-IV",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C-gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C, gamma 2 (phosphatidylinositol-specific)",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C-IV",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLCG2",
                    "type": "recommended"
                },
                {
                    "name": "APLAID",
                    "type": "synonym"
                },
                {
                    "name": "FCAS3",
                    "type": "synonym"
                },
                {
                    "name": "PLC-IV",
                    "type": "synonym"
                },
                {
                    "name": "PLC-gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "PLCG2",
                    "type": "synonym"
                }
            ],
            "record_id": "P16885-1",
            "evidence": [
                {
                    "id": "614878",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614878"
                },
                {
                    "id": "0070615",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070615"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32383-1",
            "uniprot_ac": "P32383",
            "uniprot_id": "PLC1_YEAST",
            "refseq_ac": "NP_015055",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol phospholipase C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLC1",
                    "type": "recommended"
                },
                {
                    "name": "PLC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32383-1",
            "evidence": [
                {
                    "id": "0070615",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070615"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24135-1",
            "uniprot_ac": "P24135",
            "uniprot_id": "PLCG2_RAT",
            "refseq_ac": "NP_058864",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-IV",
                    "type": "synonym"
                },
                {
                    "name": "PLC-gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C-gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-IV",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C-gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C-IV",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plcg2",
                    "type": "recommended"
                },
                {
                    "name": "Plcg2",
                    "type": "synonym"
                }
            ],
            "record_id": "P24135-1",
            "evidence": [
                {
                    "id": "0070615",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070615"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXH3-1",
            "uniprot_ac": "Q9VXH3",
            "uniprot_id": "Q9VXH3_DROME",
            "refseq_ac": "NP_476726",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "CG4200-PA",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C gamma",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase cgamma",
                    "type": "synonym"
                },
                {
                    "name": "sl-PA",
                    "type": "synonym"
                },
                {
                    "name": "small wing",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sl",
                    "type": "recommended"
                },
                {
                    "name": "CG4200",
                    "type": "synonym"
                },
                {
                    "name": "DPLCgamma",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4200",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4200",
                    "type": "synonym"
                },
                {
                    "name": "PLC-gamma D",
                    "type": "synonym"
                },
                {
                    "name": "PLC-gammaD",
                    "type": "synonym"
                },
                {
                    "name": "PLC-gamma",
                    "type": "synonym"
                },
                {
                    "name": "PLCgamma1",
                    "type": "synonym"
                },
                {
                    "name": "PLCgammaDmel",
                    "type": "synonym"
                },
                {
                    "name": "PLCgamma",
                    "type": "synonym"
                },
                {
                    "name": "PLC",
                    "type": "synonym"
                },
                {
                    "name": "Plcgamma",
                    "type": "synonym"
                },
                {
                    "name": "Sl",
                    "type": "synonym"
                },
                {
                    "name": "p145",
                    "type": "synonym"
                },
                {
                    "name": "plc-gammad",
                    "type": "synonym"
                },
                {
                    "name": "plc-gamma",
                    "type": "synonym"
                },
                {
                    "name": "sl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXH3-1",
            "evidence": [
                {
                    "id": "0070615",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070615"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070615"
}