{
    "disease_id": "DOID:0111103",
    "recommended_name": {
        "id": "DOID:0111103",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111103",
        "name": "maturity-onset diabetes of the young type 4",
        "description": "A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111103",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111103",
            "name": "MODY type 4",
            "description": ""
        },
        {
            "id": "DOID:0111103",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111103",
            "name": "MODY4",
            "description": ""
        },
        {
            "id": "MONDO:0011667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011667",
            "name": "maturity-onset diabetes of the young type 4",
            "description": "Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes."
        },
        {
            "id": "MONDO:0011667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011667",
            "name": "MODY, type IV",
            "description": ""
        },
        {
            "id": "MONDO:0011667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011667",
            "name": "MODY4",
            "description": ""
        },
        {
            "id": "MONDO:0011667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011667",
            "name": "PDX1 maturity-onset diabetes of the young (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0011667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011667",
            "name": "PDX1-associated monogenic diabetes",
            "description": ""
        },
        {
            "id": "MONDO:0011667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011667",
            "name": "maturity onset diabetes of the Young, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011667",
            "name": "maturity-onset diabetes of the young (disease) caused by mutation in PDX1",
            "description": ""
        },
        {
            "id": "MONDO:0011667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011667",
            "name": "MODY insulin promoter factor-1 related",
            "description": ""
        },
        {
            "id": "MONDO:0011667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011667",
            "name": "diabetes mellitus MODY type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011667",
            "name": "maturity-onset diabetes of the young, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011667",
            "name": "type 4 maturity-onset diabetes of the young",
            "description": ""
        },
        {
            "id": "MIM:606392",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606392",
            "name": "Maturity-onset diabetes of the young 4",
            "description": "Maturity-onset diabetes of the young 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111103"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111103",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111103",
            "categories": []
        },
        {
            "id": "MONDO:0011667",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011667",
            "categories": []
        },
        {
            "id": "MIM:606392",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606392",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P52946-1",
            "uniprot_ac": "P52946",
            "uniprot_id": "PDX1_MOUSE",
            "refseq_ac": "NP_032840",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pancreas/duodenum homeobox protein 1",
                    "type": "recommended"
                },
                {
                    "name": "IDX-1",
                    "type": "synonym"
                },
                {
                    "name": "IPF-1",
                    "type": "synonym"
                },
                {
                    "name": "Insulin promoter factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Islet/duodenum homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "STF-1",
                    "type": "synonym"
                },
                {
                    "name": "Somatostatin-transactivating factor 1",
                    "type": "synonym"
                },
                {
                    "name": "insulin promoter factor 1, homeodomain transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "islet/duodenum homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "pancreas/duodenum homeobox protein 1",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic and duodenal homeobox gene 1",
                    "type": "synonym"
                },
                {
                    "name": "somatostatin-transactivating factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdx1",
                    "type": "recommended"
                },
                {
                    "name": "IDX-1",
                    "type": "synonym"
                },
                {
                    "name": "IPF-1",
                    "type": "synonym"
                },
                {
                    "name": "Ipf1",
                    "type": "synonym"
                },
                {
                    "name": "Mody4",
                    "type": "synonym"
                },
                {
                    "name": "Pdx1",
                    "type": "synonym"
                },
                {
                    "name": "STF-1",
                    "type": "synonym"
                },
                {
                    "name": "pdx-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P52946-1",
            "evidence": [
                {
                    "id": "0111103",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111103"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52945-1",
            "uniprot_ac": "P52945",
            "uniprot_id": "PDX1_HUMAN",
            "refseq_ac": "NP_000200",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pancreas/duodenum homeobox protein 1",
                    "type": "recommended"
                },
                {
                    "name": "GSF",
                    "type": "synonym"
                },
                {
                    "name": "Glucose-sensitive factor",
                    "type": "synonym"
                },
                {
                    "name": "IDX-1",
                    "type": "synonym"
                },
                {
                    "name": "IPF-1",
                    "type": "synonym"
                },
                {
                    "name": "IUF-1",
                    "type": "synonym"
                },
                {
                    "name": "Insulin promoter factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Insulin upstream factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Islet/duodenum homeobox-1",
                    "type": "synonym"
                },
                {
                    "name": "PDX-1",
                    "type": "synonym"
                },
                {
                    "name": "STF-1",
                    "type": "synonym"
                },
                {
                    "name": "Somatostatin-transactivating factor 1",
                    "type": "synonym"
                },
                {
                    "name": "glucose-sensitive factor",
                    "type": "synonym"
                },
                {
                    "name": "insulin promoter factor 1, homeodomain transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "insulin upstream factor 1",
                    "type": "synonym"
                },
                {
                    "name": "islet/duodenum homeobox-1",
                    "type": "synonym"
                },
                {
                    "name": "pancreas/duodenum homeobox protein 1",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic-duodenal homeobox factor 1",
                    "type": "synonym"
                },
                {
                    "name": "somatostatin transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "somatostatin-transactivating factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDX1",
                    "type": "recommended"
                },
                {
                    "name": "GSF",
                    "type": "synonym"
                },
                {
                    "name": "IDX-1",
                    "type": "synonym"
                },
                {
                    "name": "IPF1",
                    "type": "synonym"
                },
                {
                    "name": "IUF1",
                    "type": "synonym"
                },
                {
                    "name": "MODY4",
                    "type": "synonym"
                },
                {
                    "name": "PAGEN1",
                    "type": "synonym"
                },
                {
                    "name": "PDX-1",
                    "type": "synonym"
                },
                {
                    "name": "PDX1",
                    "type": "synonym"
                },
                {
                    "name": "STF-1",
                    "type": "synonym"
                },
                {
                    "name": "STF1",
                    "type": "synonym"
                }
            ],
            "record_id": "P52945-1",
            "evidence": [
                {
                    "id": "606392",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606392"
                },
                {
                    "id": "0111103",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111103"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52947-1",
            "uniprot_ac": "P52947",
            "uniprot_id": "PDX1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pancreas/duodenum homeobox protein 1",
                    "type": "recommended"
                },
                {
                    "name": "IDX-1",
                    "type": "synonym"
                },
                {
                    "name": "IPF-1",
                    "type": "synonym"
                },
                {
                    "name": "Insulin promoter factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Islet/duodenum homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "STF-1",
                    "type": "synonym"
                },
                {
                    "name": "Somatostatin-transactivating factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdx1",
                    "type": "recommended"
                },
                {
                    "name": "Ipf1",
                    "type": "synonym"
                }
            ],
            "record_id": "P52947-1",
            "evidence": [
                {
                    "id": "0111103",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111103"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KUL4-1",
            "uniprot_ac": "Q7KUL4",
            "uniprot_id": "Q7KUL4_DROME",
            "refseq_ac": "NP_996087",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11551-PB",
                    "type": "synonym"
                },
                {
                    "name": "Intermediate neuroblasts defective",
                    "type": "synonym"
                },
                {
                    "name": "ind-PB",
                    "type": "synonym"
                },
                {
                    "name": "intermediate nerve cord defective",
                    "type": "synonym"
                },
                {
                    "name": "intermediate neuroblast defective",
                    "type": "synonym"
                },
                {
                    "name": "intermediate neuroblasts defective",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ind",
                    "type": "recommended"
                },
                {
                    "name": "CG11551",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11551",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11551",
                    "type": "synonym"
                },
                {
                    "name": "Gsx",
                    "type": "synonym"
                },
                {
                    "name": "Ind",
                    "type": "synonym"
                },
                {
                    "name": "ind/Gsx",
                    "type": "synonym"
                },
                {
                    "name": "ind",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KUL4-1",
            "evidence": [
                {
                    "id": "0111103",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111103"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111103"
}