{
    "disease_id": "DOID:0111946",
    "recommended_name": {
        "id": "DOID:0111946",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111946",
        "name": "immunodeficiency 31C",
        "description": "A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111946",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111946",
            "name": "CANDF7",
            "description": ""
        },
        {
            "id": "DOID:0111946",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111946",
            "name": "autosomal dominant chronic mucocutaneous familial candidiasis",
            "description": ""
        },
        {
            "id": "DOID:0111946",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111946",
            "name": "IMD31C",
            "description": ""
        },
        {
            "id": "DOID:0111946",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111946",
            "name": "autosomal dominant immunodeficiency 31C",
            "description": ""
        },
        {
            "id": "DOID:0111946",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111946",
            "name": "familial candidiasis 7",
            "description": ""
        },
        {
            "id": "DOID:0111946",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111946",
            "name": "autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome",
            "description": "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia."
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "immunodeficiency type 31C",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "CANDF7",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "IMD31C",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "candidiasis familial chronic mucocutaneous, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "candidiasis familial, 7",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "familial chronic mucocutaneous, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "immunodeficiency 31C",
            "description": ""
        },
        {
            "id": "MIM:614162",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614162",
            "name": "Immunodeficiency 31C",
            "description": "Immunodeficiency 31C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111946"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111946",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111946",
            "categories": []
        },
        {
            "id": "MONDO:0013599",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "categories": []
        },
        {
            "id": "MIM:614162",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614162",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0S789-1",
            "uniprot_ac": "B0S789",
            "uniprot_id": "B0S789_DANRE",
            "refseq_ac": "NP_956385",
            "glycoprotein": "no",
            "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 1, 91kDa",
                    "type": "synonym"
                },
                {
                    "name": "signal transducer and activator of transcription 1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stat1b",
                    "type": "recommended"
                },
                {
                    "name": "STAT1",
                    "type": "synonym"
                },
                {
                    "name": "STAT",
                    "type": "synonym"
                },
                {
                    "name": "si:by134g18.3",
                    "type": "synonym"
                },
                {
                    "name": "si:by51f19.2",
                    "type": "synonym"
                },
                {
                    "name": "si:dz199m19.1",
                    "type": "synonym"
                },
                {
                    "name": "si:dz199m19.2",
                    "type": "synonym"
                },
                {
                    "name": "si:dz73o4.3",
                    "type": "synonym"
                },
                {
                    "name": "si:dz87i4.1",
                    "type": "synonym"
                },
                {
                    "name": "si:xx-51f19.2",
                    "type": "synonym"
                },
                {
                    "name": "stat1b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi49f02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55503",
                    "type": "synonym"
                }
            ],
            "record_id": "B0S789-1",
            "evidence": [
                {
                    "id": "0111946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111946"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42225-1",
            "uniprot_ac": "P42225",
            "uniprot_id": "STAT1_MOUSE",
            "refseq_ac": "",
            "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 1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Stat1",
                    "type": "recommended"
                }
            ],
            "record_id": "P42225-1",
            "evidence": [
                {
                    "id": "0111946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111946"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42224-1",
            "uniprot_ac": "P42224",
            "uniprot_id": "STAT1_HUMAN",
            "refseq_ac": "NP_009330",
            "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 1-alpha/beta",
                    "type": "recommended"
                },
                {
                    "name": "Transcription factor ISGF-3 components p91/p84",
                    "type": "synonym"
                },
                {
                    "name": "signal transducer and activator of transcription 1, 91kDa",
                    "type": "synonym"
                },
                {
                    "name": "signal transducer and activator of transcription 1, 91kD",
                    "type": "synonym"
                },
                {
                    "name": "signal transducer and activator of transcription 1-alpha/beta isoform alpha",
                    "type": "synonym"
                },
                {
                    "name": "signal transducer and activator of transcription 1-alpha/beta",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor ISGF-3 components p91/p84",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STAT1",
                    "type": "recommended"
                },
                {
                    "name": "CANDF7",
                    "type": "synonym"
                },
                {
                    "name": "IMD31A",
                    "type": "synonym"
                },
                {
                    "name": "IMD31B",
                    "type": "synonym"
                },
                {
                    "name": "IMD31C",
                    "type": "synonym"
                },
                {
                    "name": "ISGF-3",
                    "type": "synonym"
                },
                {
                    "name": "STAT1",
                    "type": "synonym"
                },
                {
                    "name": "STAT91",
                    "type": "synonym"
                }
            ],
            "record_id": "P42224-1",
            "evidence": [
                {
                    "id": "614162",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614162"
                },
                {
                    "id": "0111946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111946"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M9D6-1",
            "uniprot_ac": "F1M9D6",
            "uniprot_id": "F1M9D6_RAT",
            "refseq_ac": "",
            "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",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Stat1",
                    "type": "recommended"
                },
                {
                    "name": "Stat4",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M9D6-1",
            "evidence": [
                {
                    "id": "0111946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111946"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31513-1",
            "uniprot_ac": "P31513",
            "uniprot_id": "FMO3_HUMAN",
            "refseq_ac": "NP_001002294",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Flavin-containing monooxygenase 3",
                    "type": "recommended"
                },
                {
                    "name": "1.14.13.148",
                    "type": "synonym"
                },
                {
                    "name": "1.14.13.32",
                    "type": "synonym"
                },
                {
                    "name": "1.14.13.8",
                    "type": "synonym"
                },
                {
                    "name": "Dimethylaniline monooxygenase [N-oxide-forming] 3",
                    "type": "synonym"
                },
                {
                    "name": "Dimethylaniline oxidase 3",
                    "type": "synonym"
                },
                {
                    "name": "FMO 3",
                    "type": "synonym"
                },
                {
                    "name": "FMO II",
                    "type": "synonym"
                },
                {
                    "name": "FMO form 2",
                    "type": "synonym"
                },
                {
                    "name": "Hepatic flavin-containing monooxygenase 3",
                    "type": "synonym"
                },
                {
                    "name": "Trimethylamine monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "dimethylaniline monooxygenase [N-oxide-forming] 3",
                    "type": "synonym"
                },
                {
                    "name": "dimethylaniline oxidase 3",
                    "type": "synonym"
                },
                {
                    "name": "flavin containing monooxygenase 3",
                    "type": "synonym"
                },
                {
                    "name": "flavin-containing monooxygenase 3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "hepatic flavin-containing monooxygenase-3",
                    "type": "synonym"
                },
                {
                    "name": "trimethylamine monooxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FMO3",
                    "type": "recommended"
                },
                {
                    "name": "FMO3",
                    "type": "synonym"
                },
                {
                    "name": "FMOII",
                    "type": "synonym"
                },
                {
                    "name": "TMAU",
                    "type": "synonym"
                },
                {
                    "name": "dJ127D3.1",
                    "type": "synonym"
                }
            ],
            "record_id": "P31513-1",
            "evidence": [
                {
                    "id": "0111946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111946"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111946"
}