{
    "disease_id": "DOID:0111102",
    "recommended_name": {
        "id": "DOID:0111102",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111102",
        "name": "maturity-onset diabetes of the young type 3",
        "description": "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111102",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111102",
            "name": "MODY type 3",
            "description": ""
        },
        {
            "id": "DOID:0111102",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111102",
            "name": "MODY3",
            "description": ""
        },
        {
            "id": "MONDO:0010894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010894",
            "name": "maturity-onset diabetes of the young type 3",
            "description": "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha."
        },
        {
            "id": "MONDO:0010894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010894",
            "name": "HNF1A maturity-onset diabetes of the young (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0010894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010894",
            "name": "HNF1A-associated monogenic diabetes",
            "description": ""
        },
        {
            "id": "MONDO:0010894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010894",
            "name": "MODY type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010894",
            "name": "MODY, type III",
            "description": ""
        },
        {
            "id": "MONDO:0010894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010894",
            "name": "MODY3",
            "description": ""
        },
        {
            "id": "MONDO:0010894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010894",
            "name": "hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes",
            "description": ""
        },
        {
            "id": "MONDO:0010894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010894",
            "name": "maturity-onset diabetes of the young (disease) caused by mutation in HNF1A",
            "description": ""
        },
        {
            "id": "MONDO:0010894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010894",
            "name": "maturity-onset diabetes of the young type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010894",
            "name": "MODY hepatocyte nuclear factor-1-alpha related",
            "description": ""
        },
        {
            "id": "MONDO:0010894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010894",
            "name": "diabetes mellitus MODY type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010894",
            "name": "maturity-onset diabetes of the young, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010894",
            "name": "type 3 maturity-onset diabetes of the young",
            "description": ""
        },
        {
            "id": "MIM:600496",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600496",
            "name": "Maturity-onset diabetes of the young 3",
            "description": "Maturity-onset diabetes of the young 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111102"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111102",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111102",
            "categories": []
        },
        {
            "id": "MONDO:0010894",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010894",
            "categories": []
        },
        {
            "id": "MIM:600496",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600496",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P22361-1",
            "uniprot_ac": "P22361",
            "uniprot_id": "HNF1A_MOUSE",
            "refseq_ac": "NP_033353",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte nuclear factor 1-alpha",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1A",
                    "type": "synonym"
                },
                {
                    "name": "LFB1",
                    "type": "synonym"
                },
                {
                    "name": "Liver-specific transcription factor LF-B1",
                    "type": "synonym"
                },
                {
                    "name": "TCF-1",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "liver-specific transcription factor LF-B1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hnf1a",
                    "type": "recommended"
                },
                {
                    "name": "HNF1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "HNF1[a]",
                    "type": "synonym"
                },
                {
                    "name": "HNF1",
                    "type": "synonym"
                },
                {
                    "name": "Hnf-1a",
                    "type": "synonym"
                },
                {
                    "name": "Hnf-1",
                    "type": "synonym"
                },
                {
                    "name": "Hnf1alpha",
                    "type": "synonym"
                },
                {
                    "name": "Hnf1a",
                    "type": "synonym"
                },
                {
                    "name": "LFB1",
                    "type": "synonym"
                },
                {
                    "name": "Tcf-1",
                    "type": "synonym"
                },
                {
                    "name": "Tcf1",
                    "type": "synonym"
                }
            ],
            "record_id": "P22361-1",
            "evidence": [
                {
                    "id": "0111102",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111102"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20823-1",
            "uniprot_ac": "P20823",
            "uniprot_id": "HNF1A_HUMAN",
            "refseq_ac": "NP_001293108",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte nuclear factor 1-alpha",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1A",
                    "type": "synonym"
                },
                {
                    "name": "LFB1",
                    "type": "synonym"
                },
                {
                    "name": "Liver-specific transcription factor LF-B1",
                    "type": "synonym"
                },
                {
                    "name": "TCF-1",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "albumin proximal factor",
                    "type": "synonym"
                },
                {
                    "name": "hepatic nuclear factor 1",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-alpha isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "interferon production regulator factor",
                    "type": "synonym"
                },
                {
                    "name": "liver-specific transcription factor LF-B1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 1, hepatic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HNF1A",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1A",
                    "type": "synonym"
                },
                {
                    "name": "HNF1A",
                    "type": "synonym"
                },
                {
                    "name": "HNF1alpha",
                    "type": "synonym"
                },
                {
                    "name": "HNF1",
                    "type": "synonym"
                },
                {
                    "name": "IDDM20",
                    "type": "synonym"
                },
                {
                    "name": "LFB1",
                    "type": "synonym"
                },
                {
                    "name": "MODY3",
                    "type": "synonym"
                },
                {
                    "name": "TCF-1",
                    "type": "synonym"
                },
                {
                    "name": "TCF1",
                    "type": "synonym"
                }
            ],
            "record_id": "P20823-1",
            "evidence": [
                {
                    "id": "600496",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600496"
                },
                {
                    "id": "0111102",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111102"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15257-1",
            "uniprot_ac": "P15257",
            "uniprot_id": "HNF1A_RAT",
            "refseq_ac": "NP_036801",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte nuclear factor 1-alpha",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1A",
                    "type": "synonym"
                },
                {
                    "name": "LF-B1, hepatic nuclear factor (HNF1): albumin proximal factor, also TCF1",
                    "type": "synonym"
                },
                {
                    "name": "LFB1",
                    "type": "synonym"
                },
                {
                    "name": "Liver-specific transcription factor LF-B1",
                    "type": "synonym"
                },
                {
                    "name": "TCF-1",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 1, hepatic",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "albumin proximal factor",
                    "type": "synonym"
                },
                {
                    "name": "hepatic nuclear factor 1",
                    "type": "synonym"
                },
                {
                    "name": "hepatic nuclear factor-1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "liver-specific transcription factor LF-B1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hnf1a",
                    "type": "recommended"
                },
                {
                    "name": "HNF1",
                    "type": "synonym"
                },
                {
                    "name": "Hnf-1a",
                    "type": "synonym"
                },
                {
                    "name": "Hnf-1",
                    "type": "synonym"
                },
                {
                    "name": "Hnf1a",
                    "type": "synonym"
                },
                {
                    "name": "LF-B1",
                    "type": "synonym"
                },
                {
                    "name": "Lfb1",
                    "type": "synonym"
                },
                {
                    "name": "Tcf1",
                    "type": "synonym"
                }
            ],
            "record_id": "P15257-1",
            "evidence": [
                {
                    "id": "0111102",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111102"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25089-1",
            "uniprot_ac": "P25089",
            "uniprot_id": "FPR3_HUMAN",
            "refseq_ac": "NP_002021",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-formyl peptide receptor 3",
                    "type": "recommended"
                },
                {
                    "name": "FMLP-R-II",
                    "type": "synonym"
                },
                {
                    "name": "FMLP-related receptor II",
                    "type": "synonym"
                },
                {
                    "name": "Formyl peptide receptor-like 2",
                    "type": "synonym"
                },
                {
                    "name": "N-formyl peptide receptor 3",
                    "type": "synonym"
                },
                {
                    "name": "formyl peptide receptor-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FPR3",
                    "type": "recommended"
                },
                {
                    "name": "FML2_HUMAN",
                    "type": "synonym"
                },
                {
                    "name": "FMLP-R-II",
                    "type": "synonym"
                },
                {
                    "name": "FMLPY",
                    "type": "synonym"
                },
                {
                    "name": "FPR3",
                    "type": "synonym"
                },
                {
                    "name": "FPRH1",
                    "type": "synonym"
                },
                {
                    "name": "FPRH2",
                    "type": "synonym"
                },
                {
                    "name": "FPRL2",
                    "type": "synonym"
                },
                {
                    "name": "RMLP-R-I",
                    "type": "synonym"
                }
            ],
            "record_id": "P25089-1",
            "evidence": [
                {
                    "id": "0111102",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111102"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111102"
}