{
    "disease_id": "DOID:0111975",
    "recommended_name": {
        "id": "DOID:0111975",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111975",
        "name": "immunodeficiency 44",
        "description": "A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111975",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111975",
            "name": "IMD44",
            "description": ""
        },
        {
            "id": "MONDO:0014715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014715",
            "name": "primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection",
            "description": "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis."
        },
        {
            "id": "MONDO:0014715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014715",
            "name": "IMD44",
            "description": ""
        },
        {
            "id": "MONDO:0014715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014715",
            "name": "immunodeficiency 44",
            "description": ""
        },
        {
            "id": "MONDO:0014715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014715",
            "name": "immunodeficiency type 44",
            "description": ""
        },
        {
            "id": "MONDO:0014715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014715",
            "name": "primary immunodeficiency with post-MMR vaccine viral infection",
            "description": ""
        },
        {
            "id": "MIM:616636",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616636",
            "name": "Immunodeficiency 44",
            "description": "Immunodeficiency 44"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111975"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111975",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111975",
            "categories": []
        },
        {
            "id": "MONDO:0014715",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014715",
            "categories": []
        },
        {
            "id": "MIM:616636",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616636",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NZ93-1",
            "uniprot_ac": "A0A8M1NZ93",
            "uniprot_id": "A0A8M1NZ93_DANRE",
            "refseq_ac": "NP_001258730",
            "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 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stat2",
                    "type": "recommended"
                },
                {
                    "name": "fj84d07",
                    "type": "synonym"
                },
                {
                    "name": "stat2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj84d07",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NZ93-1",
            "evidence": [
                {
                    "id": "0111975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111975"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVL2-1",
            "uniprot_ac": "Q9WVL2",
            "uniprot_id": "STAT2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "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 2",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Stat2",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9WVL2-1",
            "evidence": [
                {
                    "id": "0111975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111975"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52630-3",
            "uniprot_ac": "P52630",
            "uniprot_id": "STAT2_HUMAN",
            "refseq_ac": "NP_005410",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "interferon alpha induced transcriptional activator",
                    "type": "synonym"
                },
                {
                    "name": "p113",
                    "type": "synonym"
                },
                {
                    "name": "signal transducer and activator of transcription 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "signal transducer and activator of transcription 2, 113kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STAT2",
                    "type": "recommended"
                },
                {
                    "name": "IMD44",
                    "type": "synonym"
                },
                {
                    "name": "ISGF-3",
                    "type": "synonym"
                },
                {
                    "name": "P113",
                    "type": "synonym"
                },
                {
                    "name": "PTORCH3",
                    "type": "synonym"
                },
                {
                    "name": "STAT113",
                    "type": "synonym"
                },
                {
                    "name": "STAT2",
                    "type": "synonym"
                }
            ],
            "record_id": "P52630-3",
            "evidence": [
                {
                    "id": "616636",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616636"
                },
                {
                    "id": "0111975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111975"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24151-1",
            "uniprot_ac": "Q24151",
            "uniprot_id": "STAT_DROME",
            "refseq_ac": "NP_001014643",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal transducer and transcription activator",
                    "type": "recommended"
                },
                {
                    "name": "CG4257-PG",
                    "type": "synonym"
                },
                {
                    "name": "Protein marelle",
                    "type": "synonym"
                },
                {
                    "name": "Signal-transducer and activator of transcription protein at 92E, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "Signal-transducer and activator of transcription protein",
                    "type": "synonym"
                },
                {
                    "name": "Stat92E-PG",
                    "type": "synonym"
                },
                {
                    "name": "d-STAT",
                    "type": "synonym"
                },
                {
                    "name": "marelle",
                    "type": "synonym"
                },
                {
                    "name": "signal transducer and activator of transcription",
                    "type": "synonym"
                },
                {
                    "name": "signal transducers and activator of transcription",
                    "type": "synonym"
                },
                {
                    "name": "stat92E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stat92E",
                    "type": "recommended"
                },
                {
                    "name": "CG4257",
                    "type": "synonym"
                },
                {
                    "name": "D-STAT",
                    "type": "synonym"
                },
                {
                    "name": "D-Stat",
                    "type": "synonym"
                },
                {
                    "name": "D-stat/stat92E",
                    "type": "synonym"
                },
                {
                    "name": "D-stat",
                    "type": "synonym"
                },
                {
                    "name": "DRODSRC",
                    "type": "synonym"
                },
                {
                    "name": "DSRC",
                    "type": "synonym"
                },
                {
                    "name": "DSTAT",
                    "type": "synonym"
                },
                {
                    "name": "DmSTAT",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4257",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4257",
                    "type": "synonym"
                },
                {
                    "name": "Dstat 92E",
                    "type": "synonym"
                },
                {
                    "name": "Dstat92E",
                    "type": "synonym"
                },
                {
                    "name": "Dstat",
                    "type": "synonym"
                },
                {
                    "name": "Dst",
                    "type": "synonym"
                },
                {
                    "name": "MARE",
                    "type": "synonym"
                },
                {
                    "name": "SD-stat",
                    "type": "synonym"
                },
                {
                    "name": "STAT 92E",
                    "type": "synonym"
                },
                {
                    "name": "STAT92E",
                    "type": "synonym"
                },
                {
                    "name": "STAT92e",
                    "type": "synonym"
                },
                {
                    "name": "STAT92",
                    "type": "synonym"
                },
                {
                    "name": "STAT",
                    "type": "synonym"
                },
                {
                    "name": "Sta92E",
                    "type": "synonym"
                },
                {
                    "name": "Stat1alpha-like",
                    "type": "synonym"
                },
                {
                    "name": "Stat92E",
                    "type": "synonym"
                },
                {
                    "name": "Stat92e",
                    "type": "synonym"
                },
                {
                    "name": "Stat92",
                    "type": "synonym"
                },
                {
                    "name": "Stat9E",
                    "type": "synonym"
                },
                {
                    "name": "Stat",
                    "type": "synonym"
                },
                {
                    "name": "d-STAT",
                    "type": "synonym"
                },
                {
                    "name": "dSTAT92E/marelle",
                    "type": "synonym"
                },
                {
                    "name": "dSTAT92E",
                    "type": "synonym"
                },
                {
                    "name": "dSTAT",
                    "type": "synonym"
                },
                {
                    "name": "dstat",
                    "type": "synonym"
                },
                {
                    "name": "l(3)06346",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j6C8",
                    "type": "synonym"
                },
                {
                    "name": "marelle",
                    "type": "synonym"
                },
                {
                    "name": "mrL",
                    "type": "synonym"
                },
                {
                    "name": "mrl stat92E",
                    "type": "synonym"
                },
                {
                    "name": "mrl",
                    "type": "synonym"
                },
                {
                    "name": "pSTAT92E",
                    "type": "synonym"
                },
                {
                    "name": "pSTAT",
                    "type": "synonym"
                },
                {
                    "name": "stat92E",
                    "type": "synonym"
                },
                {
                    "name": "stat92e",
                    "type": "synonym"
                },
                {
                    "name": "stat92",
                    "type": "synonym"
                },
                {
                    "name": "stat[92E]",
                    "type": "synonym"
                },
                {
                    "name": "stat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24151-1",
            "evidence": [
                {
                    "id": "0111975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111975"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111975"
}