{
    "disease_id": "DOID:0061003",
    "recommended_name": {
        "id": "DOID:0061003",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0061003",
        "name": "pancreatic agenesis 1",
        "description": "A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0024547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024547",
            "name": "pancreatic agenesis 1",
            "description": "Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene."
        },
        {
            "id": "MONDO:0024547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024547",
            "name": "PDX1 pancreatic agenesis",
            "description": ""
        },
        {
            "id": "MONDO:0024547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024547",
            "name": "pancreatic agenesis 1",
            "description": ""
        },
        {
            "id": "MONDO:0024547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024547",
            "name": "pancreatic agenesis caused by mutation in PDX1",
            "description": ""
        },
        {
            "id": "MONDO:0024547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024547",
            "name": "PAGEN1",
            "description": ""
        },
        {
            "id": "MONDO:0024547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024547",
            "name": "Pagen",
            "description": ""
        },
        {
            "id": "MONDO:0024547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024547",
            "name": "pancreatic hypoplasia, congenital",
            "description": ""
        },
        {
            "id": "MIM:260370",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/260370",
            "name": "Pancreatic agenesis 1",
            "description": "Pancreatic agenesis 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061003"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061003",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061003",
            "categories": []
        },
        {
            "id": "MONDO:0024547",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024547",
            "categories": []
        },
        {
            "id": "MIM:260370",
            "database": "MIM",
            "url": "https://www.omim.org/entry/260370",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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; ind-PB; intermediate neuroblast defective; intermediate nerve cord defective",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Intermediate neuroblasts defective",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "intermediate neuroblasts defective",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ind",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG11551; Dmel\\CG11551; Ind; ind/Gsx",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG11551",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11551",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11551",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Gsx",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ind",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ind",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0061003",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061003"
                }
            ]
        },
        {
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "IDX-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "IPF-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Insulin promoter factor 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Islet/duodenum homeobox 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "STF-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Somatostatin-transactivating factor 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "insulin promoter factor 1, homeodomain transcription factor; islet/duodenum homeobox 1; somatostatin-transactivating factor 1; pancreatic and duodenal homeobox gene 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "pancreas/duodenum homeobox protein 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdx1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "IDX-1; IPF-1; Ipf1; Mody4; pdx-1; STF-1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ipf1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Pdx1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0061003",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061003"
                }
            ]
        },
        {
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "GSF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Glucose-sensitive factor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "IDX-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "IPF-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "IUF-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Insulin promoter factor 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Insulin upstream factor 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Islet/duodenum homeobox-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PDX-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "STF-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Somatostatin-transactivating factor 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "pancreas/duodenum homeobox protein 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic-duodenal homeobox factor 1; somatostatin transcription factor 1; insulin promoter factor 1, homeodomain transcription factor; insulin upstream factor 1; glucose-sensitive factor; IPF-1; IUF-1; islet/duodenum homeobox-1; somatostatin-transactivating factor 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDX1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1; PDX-1; STF-1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "IPF1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PDX1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "STF1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0061003",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061003"
                },
                {
                    "id": "260370",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/260370"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6DC85-1",
            "uniprot_ac": "Q6DC85",
            "uniprot_id": "Q6DC85_DANRE",
            "refseq_ac": "NP_571518",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pancreas/duodenum homeobox protein 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "pancreas/duodenum homeobox protein 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic and duodenal homeobox gene 1; insulin promoter factor 1, homeodomain transcription factor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pdx1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ipf1; pdx-1; zgc:100874",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ipf1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "pdx-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "pdx1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100874",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0061003",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061003"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52947-1",
            "uniprot_ac": "P52947",
            "uniprot_id": "PDX1_RAT",
            "refseq_ac": "NP_074043",
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "IDX-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "IPF-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Insulin promoter factor 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Islet/duodenum homeobox 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "STF-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Somatostatin-transactivating factor 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "islet/duodenum homeobox-1; somatostatin transactivating factor 1; IDX-1; IPF-1; STF-1; Insulin promoter factor 1; insulin promotor factor 1; pancreatic and duodenal homeobox gene 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "pancreas/duodenum homeobox protein 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdx1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Idx1; Ipf1; Stf1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ipf1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Pdx1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0061003",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061003"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061003"
}