{
    "disease_id": "DOID:0061065",
    "recommended_name": {
        "id": "DOID:0061065",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061065",
        "name": "immunodeficiency 95",
        "description": "A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that has_material_basis_in homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0030692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030692",
            "name": "immunodeficiency 95",
            "description": ""
        },
        {
            "id": "MONDO:0030692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030692",
            "name": "IMD95",
            "description": ""
        },
        {
            "id": "MONDO:0030692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030692",
            "name": "immunodeficiency 95",
            "description": ""
        },
        {
            "id": "MIM:619773",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619773",
            "name": "Immunodeficiency 95",
            "description": "Immunodeficiency 95"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061065"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061065",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061065",
            "categories": []
        },
        {
            "id": "MONDO:0030692",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030692",
            "categories": []
        },
        {
            "id": "MIM:619773",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619773",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8R5F7-1",
            "uniprot_ac": "Q8R5F7",
            "uniprot_id": "IFIH1_MOUSE",
            "refseq_ac": "NP_001157949",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon-induced helicase C domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "Helicard",
                    "type": "synonym"
                },
                {
                    "name": "Helicase with 2 CARD domains",
                    "type": "synonym"
                },
                {
                    "name": "Interferon induced with helicase C domain protein 1",
                    "type": "synonym"
                },
                {
                    "name": "MDA-5",
                    "type": "synonym"
                },
                {
                    "name": "Melanoma differentiation-associated protein 5",
                    "type": "synonym"
                },
                {
                    "name": "RIG-I-like receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "RLR-2",
                    "type": "synonym"
                },
                {
                    "name": "helicase with 2 CARD domains",
                    "type": "synonym"
                },
                {
                    "name": "interferon induced with helicase C domain protein 1",
                    "type": "synonym"
                },
                {
                    "name": "interferon-induced helicase C domain-containing protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "interferon-induced helicase C domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "melanoma differentiation-associated protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ifih1",
                    "type": "recommended"
                },
                {
                    "name": "9130009C22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Helicard",
                    "type": "synonym"
                },
                {
                    "name": "Hlcd",
                    "type": "synonym"
                },
                {
                    "name": "Ifih1",
                    "type": "synonym"
                },
                {
                    "name": "MDA5",
                    "type": "synonym"
                },
                {
                    "name": "RLR-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R5F7-1",
            "evidence": [
                {
                    "id": "0061065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BYX4-1",
            "uniprot_ac": "Q9BYX4",
            "uniprot_id": "IFIH1_HUMAN",
            "refseq_ac": "NP_071451",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon-induced helicase C domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "CADM-140 autoantigen",
                    "type": "synonym"
                },
                {
                    "name": "Clinically amyopathic dermatomyositis autoantigen 140 kDa",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Helicard",
                    "type": "synonym"
                },
                {
                    "name": "Helicase with 2 CARD domains",
                    "type": "synonym"
                },
                {
                    "name": "Interferon-induced with helicase C domain protein 1",
                    "type": "synonym"
                },
                {
                    "name": "MDA-5",
                    "type": "synonym"
                },
                {
                    "name": "Melanoma differentiation-associated protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Murabutide down-regulated protein",
                    "type": "synonym"
                },
                {
                    "name": "RIG-I-like receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "RLR-2",
                    "type": "synonym"
                },
                {
                    "name": "RNA helicase-DEAD box protein 116",
                    "type": "synonym"
                },
                {
                    "name": "clinically amyopathic dermatomyositis autoantigen 140 kDa",
                    "type": "synonym"
                },
                {
                    "name": "helicard",
                    "type": "synonym"
                },
                {
                    "name": "helicase with 2 CARD domains",
                    "type": "synonym"
                },
                {
                    "name": "interferon-induced helicase C domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "melanoma differentiation-associated gene 5",
                    "type": "synonym"
                },
                {
                    "name": "melanoma differentiation-associated protein 5",
                    "type": "synonym"
                },
                {
                    "name": "murabutide down-regulated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IFIH1",
                    "type": "recommended"
                },
                {
                    "name": "AGS7",
                    "type": "synonym"
                },
                {
                    "name": "Hlcd",
                    "type": "synonym"
                },
                {
                    "name": "IDDM19",
                    "type": "synonym"
                },
                {
                    "name": "IFIH1",
                    "type": "synonym"
                },
                {
                    "name": "IMD95",
                    "type": "synonym"
                },
                {
                    "name": "MDA-5",
                    "type": "synonym"
                },
                {
                    "name": "MDA5",
                    "type": "synonym"
                },
                {
                    "name": "RH116",
                    "type": "synonym"
                },
                {
                    "name": "RLR-2",
                    "type": "synonym"
                },
                {
                    "name": "SGMRT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BYX4-1",
            "evidence": [
                {
                    "id": "619773",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619773"
                },
                {
                    "id": "0061065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40562-1",
            "uniprot_ac": "P40562",
            "uniprot_id": "MPH1_YEAST",
            "refseq_ac": "NP_012267",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent DNA helicase MPH1",
                    "type": "recommended"
                },
                {
                    "name": "3'-5' DNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase MPH1",
                    "type": "synonym"
                },
                {
                    "name": "FANCM-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Mutator phenotype protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MPH1",
                    "type": "recommended"
                },
                {
                    "name": "MPH1",
                    "type": "synonym"
                },
                {
                    "name": "YIB2C",
                    "type": "synonym"
                }
            ],
            "record_id": "P40562-1",
            "evidence": [
                {
                    "id": "0061065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V6W5-1",
            "uniprot_ac": "G3V6W5",
            "uniprot_id": "G3V6W5_RAT",
            "refseq_ac": "NP_001102669",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon-induced helicase C domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "Helicase with 2 CARD domains",
                    "type": "synonym"
                },
                {
                    "name": "Melanoma differentiation-associated protein 5",
                    "type": "synonym"
                },
                {
                    "name": "RIG-I-like receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "interferon-induced helicase C domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ifih1",
                    "type": "recommended"
                },
                {
                    "name": "Ifih1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560496",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V6W5-1",
            "evidence": [
                {
                    "id": "0061065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061065"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061065"
}