{
    "disease_id": "DOID:0111099",
    "recommended_name": {
        "id": "DOID:0111099",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111099",
        "name": "maturity-onset diabetes of the young type 1",
        "description": "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20."
    },
    "synonyms": [
        {
            "id": "DOID:0111099",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111099",
            "name": "Diabetes Mellitus Type 2",
            "description": ""
        },
        {
            "id": "DOID:0111099",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111099",
            "name": "MODY type 1",
            "description": ""
        },
        {
            "id": "DOID:0111099",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111099",
            "name": "MODY1",
            "description": ""
        },
        {
            "id": "DOID:0111099",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111099",
            "name": "mild juvenile diabetes mellitus",
            "description": ""
        },
        {
            "id": "MONDO:0007452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007452",
            "name": "maturity-onset diabetes of the young type 1",
            "description": "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha."
        },
        {
            "id": "MONDO:0007452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007452",
            "name": "HNF4A-associated monogenic diabetes",
            "description": ""
        },
        {
            "id": "MONDO:0007452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007452",
            "name": "MODY, type I",
            "description": ""
        },
        {
            "id": "MONDO:0007452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007452",
            "name": "MODY1",
            "description": ""
        },
        {
            "id": "MONDO:0007452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007452",
            "name": "hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes",
            "description": ""
        },
        {
            "id": "MONDO:0007452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007452",
            "name": "maturity onset diabetes of the Young, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007452",
            "name": "mild juvenile diabetes mellitus",
            "description": ""
        },
        {
            "id": "MONDO:0007452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007452",
            "name": "MODY HNF4A related",
            "description": ""
        },
        {
            "id": "MONDO:0007452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007452",
            "name": "diabetes mellitus MODY type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007452",
            "name": "maturity-onset diabetes of the young, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007452",
            "name": "type 1 maturity-onset diabetes of the young",
            "description": ""
        },
        {
            "id": "MIM:125850",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/125850",
            "name": "Maturity-onset diabetes of the young 1",
            "description": "Maturity-onset diabetes of the young 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111099"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111099",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111099",
            "categories": []
        },
        {
            "id": "MONDO:0007452",
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            "url": "https://monarchinitiative.org/disease/MONDO:0007452",
            "categories": []
        },
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            "id": "MIM:125850",
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            "url": "https://www.omim.org/entry/125850",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8M9PEX6",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
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                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Hepatocyte nuclear factor 4-alpha isoform X3",
                    "type": "synonym"
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                    "name": "hepatocyte nuclear factor 4-alpha isoform X3",
                    "type": "synonym"
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                    "name": "hnf4a",
                    "type": "recommended"
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                    "name": "fb58h09",
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                    "name": "id:ibd1279",
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                    "name": "sb:eu665",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb58h09",
                    "type": "synonym"
                }
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                }
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        },
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
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                }
            ],
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                    "type": "synonym"
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                    "type": "synonym"
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                {
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                    "name": "Transcription factor HNF-4",
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                    "name": "Hnf4a",
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                    "name": "HNF-4",
                    "type": "synonym"
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                    "name": "Hnf4a",
                    "type": "synonym"
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                {
                    "name": "Hnf4",
                    "type": "synonym"
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                    "name": "MODY1",
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                },
                {
                    "name": "Nr2a1",
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                },
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                    "name": "TCF-14",
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                }
            ],
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                    "name": "Hepatocyte nuclear factor 4-gamma",
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            ],
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                    "name": "Hnf4g",
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                {
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                    "name": "NR2A2",
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        {
            "uniprot_canonical_ac": "P41235-1",
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                    "name": "Transcription factor 14",
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                    "name": "Inversely correlated with estrogen receptor expression 1",
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                    "name": "Non-syndromic hearing impairment protein 5",
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            "uniprot_id": "HNF4G_HUMAN",
            "refseq_ac": "NP_001317490",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte nuclear factor 4-gamma",
                    "type": "recommended"
                },
                {
                    "name": "HNF-4-gamma",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 2 group A member 2",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 4-gamma isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 2 group A member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HNF4G",
                    "type": "recommended"
                },
                {
                    "name": "HNF4G",
                    "type": "synonym"
                },
                {
                    "name": "NR2A2",
                    "type": "synonym"
                },
                {
                    "name": "NR2A3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14541-1",
            "evidence": [
                {
                    "id": "0111099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111099"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111099"
}