{
    "disease_id": "DOID:0061160",
    "recommended_name": {
        "id": "DOID:0061160",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061160",
        "name": "infantile onset multisystem autoimmune disease 1",
        "description": "An infantile onset multisystem autoimmune disease characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs that has_material_basis_in heterozygous gain of function mutation in the STAT3 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0014414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014414",
            "name": "STAT3-related early-onset multisystem autoimmune disease",
            "description": ""
        },
        {
            "id": "MONDO:0014414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014414",
            "name": "ADMIO",
            "description": ""
        },
        {
            "id": "MONDO:0014414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014414",
            "name": "ADMIO1",
            "description": ""
        },
        {
            "id": "MONDO:0014414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014414",
            "name": "autoimmune disease, multisystem, infantile-onset",
            "description": ""
        },
        {
            "id": "MIM:615952",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615952",
            "name": "Autoimmune disease, multisystem, infantile-onset, 1",
            "description": "Autoimmune disease, multisystem, infantile-onset, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061160"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061160",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061160",
            "categories": []
        },
        {
            "id": "MONDO:0014414",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014414",
            "categories": []
        },
        {
            "id": "MIM:615952",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615952",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BB24-1",
            "uniprot_ac": "A0A8M2BB24",
            "uniprot_id": "A0A8M2BB24_DANRE",
            "refseq_ac": "XP_005163850",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal transducer and activator of transcription",
                    "type": "recommended"
                },
                {
                    "name": "signal transducer and activator of transcription 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stat3",
                    "type": "recommended"
                },
                {
                    "name": "STAT3b1",
                    "type": "synonym"
                },
                {
                    "name": "STAT3b2",
                    "type": "synonym"
                },
                {
                    "name": "stat3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc15d02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fl59g06",
                    "type": "synonym"
                },
                {
                    "name": "z-Stat3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BB24-1",
            "evidence": [
                {
                    "id": "0061160",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061160"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42227-1",
            "uniprot_ac": "P42227",
            "uniprot_id": "STAT3_MOUSE",
            "refseq_ac": "NP_998824",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal transducer and activator of transcription 3",
                    "type": "recommended"
                },
                {
                    "name": "Acute-phase response factor",
                    "type": "synonym"
                },
                {
                    "name": "acute phase response factor",
                    "type": "synonym"
                },
                {
                    "name": "signal transducer and activator of transcription 3 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stat3",
                    "type": "recommended"
                },
                {
                    "name": "1110034C02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Aprf",
                    "type": "synonym"
                },
                {
                    "name": "Stat3",
                    "type": "synonym"
                }
            ],
            "record_id": "P42227-1",
            "evidence": [
                {
                    "id": "0061160",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061160"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40763-1",
            "uniprot_ac": "P40763",
            "uniprot_id": "STAT3_HUMAN",
            "refseq_ac": "NP_003141",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal transducer and activator of transcription 3",
                    "type": "recommended"
                },
                {
                    "name": "Acute-phase response factor",
                    "type": "synonym"
                },
                {
                    "name": "DNA-binding protein APRF",
                    "type": "synonym"
                },
                {
                    "name": "acute-phase response factor",
                    "type": "synonym"
                },
                {
                    "name": "signal transducer and activator of transcription 3 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STAT3",
                    "type": "recommended"
                },
                {
                    "name": "ADMIO1",
                    "type": "synonym"
                },
                {
                    "name": "ADMIO",
                    "type": "synonym"
                },
                {
                    "name": "APRF",
                    "type": "synonym"
                },
                {
                    "name": "HIES",
                    "type": "synonym"
                },
                {
                    "name": "STAT3",
                    "type": "synonym"
                }
            ],
            "record_id": "P40763-1",
            "evidence": [
                {
                    "id": "615952",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615952"
                },
                {
                    "id": "0061160",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061160"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52631-1",
            "uniprot_ac": "P52631",
            "uniprot_id": "STAT3_RAT",
            "refseq_ac": "NP_036879",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal transducer and activator of transcription 3",
                    "type": "recommended"
                },
                {
                    "name": "signal transducer and activator of transcription 3 (acute-phase response factor)",
                    "type": "synonym"
                },
                {
                    "name": "signal transducer and activator of transcription 3 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stat3",
                    "type": "recommended"
                },
                {
                    "name": "Stat3",
                    "type": "synonym"
                }
            ],
            "record_id": "P52631-1",
            "evidence": [
                {
                    "id": "0061160",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061160"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31512-1",
            "uniprot_ac": "P31512",
            "uniprot_id": "FMO4_HUMAN",
            "refseq_ac": "NP_002013",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dimethylaniline monooxygenase [N-oxide-forming] 4",
                    "type": "recommended"
                },
                {
                    "name": "1.14.13.8",
                    "type": "synonym"
                },
                {
                    "name": "Dimethylaniline oxidase 4",
                    "type": "synonym"
                },
                {
                    "name": "FMO 4",
                    "type": "synonym"
                },
                {
                    "name": "Hepatic flavin-containing monooxygenase 4",
                    "type": "synonym"
                },
                {
                    "name": "dimethylaniline monooxygenase [N-oxide-forming] 4",
                    "type": "synonym"
                },
                {
                    "name": "dimethylaniline oxidase 4",
                    "type": "synonym"
                },
                {
                    "name": "flavin containing monooxygenase 4",
                    "type": "synonym"
                },
                {
                    "name": "hepatic flavin-containing monooxygenase 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FMO4",
                    "type": "recommended"
                },
                {
                    "name": "FMO2",
                    "type": "synonym"
                },
                {
                    "name": "FMO4",
                    "type": "synonym"
                }
            ],
            "record_id": "P31512-1",
            "evidence": [
                {
                    "id": "0061160",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061160"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061160"
}