{
    "disease_id": "DOID:0110756",
    "recommended_name": {
        "id": "DOID:0110756",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110756",
        "name": "type 1 diabetes mellitus 19",
        "description": "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110756",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110756",
            "name": "IDDM19",
            "description": ""
        },
        {
            "id": "DOID:0110756",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110756",
            "name": "Insulin-Dependent Diabetes Mellitus 19",
            "description": ""
        },
        {
            "id": "MONDO:0012422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012422",
            "name": "type 1 diabetes mellitus 19",
            "description": "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3."
        },
        {
            "id": "MONDO:0012422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012422",
            "name": "IDDM19",
            "description": ""
        },
        {
            "id": "MONDO:0012422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012422",
            "name": "diabetes mellitus, insulin-dependent, 19",
            "description": ""
        },
        {
            "id": "MIM:610155",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610155",
            "name": "Type 1 diabetes mellitus 19",
            "description": "Type 1 diabetes mellitus 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110756"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110756",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110756",
            "categories": []
        },
        {
            "id": "MONDO:0012422",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012422",
            "categories": []
        },
        {
            "id": "MIM:610155",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610155",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "610155",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610155"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110756"
}