{
    "disease_id": "DOID:0060988",
    "recommended_name": {
        "id": "DOID:0060988",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060988",
        "name": "pancreatic agenesis 2",
        "description": "A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12."
    },
    "synonyms": [
        {
            "id": "MONDO:0014406",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014406",
            "name": "pancreatic agenesis 2",
            "description": "Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene."
        },
        {
            "id": "MONDO:0014406",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014406",
            "name": "PTF1A pancreatic agenesis",
            "description": ""
        },
        {
            "id": "MONDO:0014406",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014406",
            "name": "pancreatic agenesis 2",
            "description": ""
        },
        {
            "id": "MONDO:0014406",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014406",
            "name": "pancreatic agenesis caused by mutation in PTF1A",
            "description": ""
        },
        {
            "id": "MONDO:0014406",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014406",
            "name": "pancreatic agenesis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014406",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014406",
            "name": "PAGEN2",
            "description": ""
        },
        {
            "id": "MIM:615935",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615935",
            "name": "Pancreatic agenesis 2",
            "description": "Pancreatic agenesis 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060988"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060988",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060988",
            "categories": []
        },
        {
            "id": "MONDO:0014406",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014406",
            "categories": []
        },
        {
            "id": "MIM:615935",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615935",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZSX3-1",
            "uniprot_ac": "Q7ZSX3",
            "uniprot_id": "PTF1A_DANRE",
            "refseq_ac": "NP_997524",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pancreas transcription factor 1 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Pancreas-specific transcription factor 1a",
                    "type": "synonym"
                },
                {
                    "name": "Ptfa",
                    "type": "synonym"
                },
                {
                    "name": "bHLH transcription factor p48",
                    "type": "synonym"
                },
                {
                    "name": "pancreas specific transcription factor, 1a",
                    "type": "synonym"
                },
                {
                    "name": "pancreas transcription factor 1 subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ptf1a",
                    "type": "recommended"
                },
                {
                    "name": "PTF1",
                    "type": "synonym"
                },
                {
                    "name": "ptf1a",
                    "type": "synonym"
                },
                {
                    "name": "si:zc142h2.2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112216",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZSX3-1",
            "evidence": [
                {
                    "id": "0060988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060988"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QX98-1",
            "uniprot_ac": "Q9QX98",
            "uniprot_id": "PTF1A_MOUSE",
            "refseq_ac": "NP_061279",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pancreas transcription factor 1 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "PTF1-p48",
                    "type": "synonym"
                },
                {
                    "name": "Pancreas-specific transcription factor 1a",
                    "type": "synonym"
                },
                {
                    "name": "bHLH transcription factor p48",
                    "type": "synonym"
                },
                {
                    "name": "p48 DNA-binding subunit of transcription factor PTF1",
                    "type": "synonym"
                },
                {
                    "name": "pancreas transcription factor 1 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "pancreas transcription factor1 p48 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptf1a",
                    "type": "recommended"
                },
                {
                    "name": "PTF1-p48",
                    "type": "synonym"
                },
                {
                    "name": "PTF1p48",
                    "type": "synonym"
                },
                {
                    "name": "Ptf1a",
                    "type": "synonym"
                },
                {
                    "name": "Ptf1p48",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa29",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QX98-1",
            "evidence": [
                {
                    "id": "0060988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060988"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7RTS3-1",
            "uniprot_ac": "Q7RTS3",
            "uniprot_id": "PTF1A_HUMAN",
            "refseq_ac": "NP_835455",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pancreas transcription factor 1 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Class A basic helix-loop-helix protein 29",
                    "type": "synonym"
                },
                {
                    "name": "PTF1-p48",
                    "type": "synonym"
                },
                {
                    "name": "Pancreas-specific transcription factor 1a",
                    "type": "synonym"
                },
                {
                    "name": "bHLH transcription factor p48",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa29",
                    "type": "synonym"
                },
                {
                    "name": "class A basic helix-loop-helix protein 29",
                    "type": "synonym"
                },
                {
                    "name": "class II bHLH protein PTF1A",
                    "type": "synonym"
                },
                {
                    "name": "exocrine pancreas-specific transcription factor p48",
                    "type": "synonym"
                },
                {
                    "name": "p48 DNA-binding subunit of transcription factor PTF1",
                    "type": "synonym"
                },
                {
                    "name": "pancreas specific transcription factor, 1a",
                    "type": "synonym"
                },
                {
                    "name": "pancreas transcription factor 1 subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PTF1A",
                    "type": "recommended"
                },
                {
                    "name": "BHLHA29",
                    "type": "synonym"
                },
                {
                    "name": "PACA",
                    "type": "synonym"
                },
                {
                    "name": "PAGEN2",
                    "type": "synonym"
                },
                {
                    "name": "PTF1-p48",
                    "type": "synonym"
                },
                {
                    "name": "PTF1A",
                    "type": "synonym"
                },
                {
                    "name": "PTF1P48",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa29",
                    "type": "synonym"
                },
                {
                    "name": "p48",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7RTS3-1",
            "evidence": [
                {
                    "id": "615935",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615935"
                },
                {
                    "id": "0060988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060988"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64305-1",
            "uniprot_ac": "Q64305",
            "uniprot_id": "PTF1A_RAT",
            "refseq_ac": "NP_446416",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pancreas transcription factor 1 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "PTF1-p48",
                    "type": "synonym"
                },
                {
                    "name": "Pancreas-specific transcription factor 1a",
                    "type": "synonym"
                },
                {
                    "name": "bHLH transcription factor p48",
                    "type": "synonym"
                },
                {
                    "name": "p48 DNA-binding subunit of transcription factor PTF1",
                    "type": "synonym"
                },
                {
                    "name": "pancreas specific transcription factor, 1a",
                    "type": "synonym"
                },
                {
                    "name": "pancreas transcription factor 1 subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptf1a",
                    "type": "recommended"
                },
                {
                    "name": "Ptf1a",
                    "type": "synonym"
                },
                {
                    "name": "Ptf1p48",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64305-1",
            "evidence": [
                {
                    "id": "0060988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060988"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KFD8-1",
            "uniprot_ac": "A0A0B4KFD8",
            "uniprot_id": "A0A0B4KFD8_DROME",
            "refseq_ac": "NP_001262334",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "48 related 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "CG33323-PB",
                    "type": "synonym"
                },
                {
                    "name": "Fer1-PB",
                    "type": "synonym"
                },
                {
                    "name": "ferritin 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fer1",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RH30329",
                    "type": "synonym"
                },
                {
                    "name": "CG10066",
                    "type": "synonym"
                },
                {
                    "name": "CG14611",
                    "type": "synonym"
                },
                {
                    "name": "CG33323",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33323",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33323",
                    "type": "synonym"
                },
                {
                    "name": "Fer1",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa30",
                    "type": "synonym"
                },
                {
                    "name": "fer1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KFD8-1",
            "evidence": [
                {
                    "id": "0060988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060988"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060988"
}