{
    "disease_id": "DOID:0111733",
    "recommended_name": {
        "id": "DOID:0111733",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111733",
        "name": "pancreatic hypoplasia-diabetes-congenital heart disease syndrome",
        "description": "A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111733",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111733",
            "name": "HDCA",
            "description": ""
        },
        {
            "id": "DOID:0111733",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111733",
            "name": "PACHD",
            "description": ""
        },
        {
            "id": "DOID:0111733",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111733",
            "name": "Yorifuji-Okuno syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111733",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111733",
            "name": "pancreatic agenesis and congenital heart defects",
            "description": ""
        },
        {
            "id": "DOID:0111733",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111733",
            "name": "congenital heart defects and other congenital anomalies",
            "description": ""
        },
        {
            "id": "DOID:0111733",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111733",
            "name": "congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease",
            "description": ""
        },
        {
            "id": "MONDO:0010802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010802",
            "name": "pancreatic hypoplasia-diabetes-congenital heart disease syndrome",
            "description": "A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis)."
        },
        {
            "id": "MONDO:0010802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010802",
            "name": "Yorifuji-Okuno syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010802",
            "name": "pancreatic hypoplasia-diabetes-congenital heart disease syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010802",
            "name": "HDCA",
            "description": ""
        },
        {
            "id": "MONDO:0010802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010802",
            "name": "Yorifuji Okuno syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010802",
            "name": "congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease",
            "description": ""
        },
        {
            "id": "MONDO:0010802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010802",
            "name": "heart defects, congenital, and other congenital anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0010802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010802",
            "name": "hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease",
            "description": ""
        },
        {
            "id": "MIM:600001",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600001",
            "name": "Pancreatic agenesis and congenital heart defects",
            "description": "Pancreatic agenesis and congenital heart defects"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111733"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111733",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111733",
            "categories": []
        },
        {
            "id": "MONDO:0010802",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010802",
            "categories": []
        },
        {
            "id": "MIM:600001",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600001",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61169-1",
            "uniprot_ac": "Q61169",
            "uniprot_id": "GATA6_MOUSE",
            "refseq_ac": "NP_034388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor GATA-6",
                    "type": "recommended"
                },
                {
                    "name": "GATA-binding factor 6",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor GATA-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gata6",
                    "type": "recommended"
                },
                {
                    "name": "GATA-6",
                    "type": "synonym"
                },
                {
                    "name": "Gata6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61169-1",
            "evidence": [
                {
                    "id": "0111733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92908-1",
            "uniprot_ac": "Q92908",
            "uniprot_id": "GATA6_HUMAN",
            "refseq_ac": "NP_005248",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor GATA-6",
                    "type": "recommended"
                },
                {
                    "name": "GATA-binding factor 6",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor GATA-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GATA6",
                    "type": "recommended"
                },
                {
                    "name": "GATA6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92908-1",
            "evidence": [
                {
                    "id": "600001",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600001"
                },
                {
                    "id": "0111733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43574-1",
            "uniprot_ac": "P43574",
            "uniprot_id": "GAT1_YEAST",
            "refseq_ac": "NP_116632",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional regulatory protein GAT1",
                    "type": "recommended"
                },
                {
                    "name": "Gat1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GAT1",
                    "type": "recommended"
                },
                {
                    "name": "GAT1",
                    "type": "synonym"
                },
                {
                    "name": "MEP80",
                    "type": "synonym"
                },
                {
                    "name": "NIL1",
                    "type": "synonym"
                }
            ],
            "record_id": "P43574-1",
            "evidence": [
                {
                    "id": "0111733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42944-1",
            "uniprot_ac": "P42944",
            "uniprot_id": "GZF3_YEAST",
            "refseq_ac": "NP_012425",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein GZF3",
                    "type": "recommended"
                },
                {
                    "name": "Gzf3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GZF3",
                    "type": "recommended"
                },
                {
                    "name": "DEH1",
                    "type": "synonym"
                },
                {
                    "name": "GZF3",
                    "type": "synonym"
                },
                {
                    "name": "J0806",
                    "type": "synonym"
                },
                {
                    "name": "NIL2",
                    "type": "synonym"
                }
            ],
            "record_id": "P42944-1",
            "evidence": [
                {
                    "id": "0111733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46153-1",
            "uniprot_ac": "P46153",
            "uniprot_id": "GATA6_RAT",
            "refseq_ac": "NP_062058",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor GATA-6",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding protein GATA-GT2",
                    "type": "synonym"
                },
                {
                    "name": "GATA-binding factor 6",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor GATA-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gata6",
                    "type": "recommended"
                },
                {
                    "name": "Gata6",
                    "type": "synonym"
                }
            ],
            "record_id": "P46153-1",
            "evidence": [
                {
                    "id": "0111733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52168-1",
            "uniprot_ac": "P52168",
            "uniprot_id": "PNR_DROME",
            "refseq_ac": "NP_476685",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATA-binding factor A",
                    "type": "recommended"
                },
                {
                    "name": "CG3978-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein pannier",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor GATA-A",
                    "type": "synonym"
                },
                {
                    "name": "dGATA-A",
                    "type": "synonym"
                },
                {
                    "name": "pannier, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "pannier",
                    "type": "synonym"
                },
                {
                    "name": "pnr-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pnr",
                    "type": "recommended"
                },
                {
                    "name": "CG3978-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG3978",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3978",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3978",
                    "type": "synonym"
                },
                {
                    "name": "GATA-A",
                    "type": "synonym"
                },
                {
                    "name": "GATA4",
                    "type": "synonym"
                },
                {
                    "name": "GATAa/Pannier",
                    "type": "synonym"
                },
                {
                    "name": "GATAa",
                    "type": "synonym"
                },
                {
                    "name": "GATA",
                    "type": "synonym"
                },
                {
                    "name": "PNR",
                    "type": "synonym"
                },
                {
                    "name": "Pannier",
                    "type": "synonym"
                },
                {
                    "name": "Pnr",
                    "type": "synonym"
                },
                {
                    "name": "dGATAa/pannier",
                    "type": "synonym"
                },
                {
                    "name": "dGATAa",
                    "type": "synonym"
                },
                {
                    "name": "l(3)89B3",
                    "type": "synonym"
                },
                {
                    "name": "pannier",
                    "type": "synonym"
                },
                {
                    "name": "pnr",
                    "type": "synonym"
                },
                {
                    "name": "prn",
                    "type": "synonym"
                }
            ],
            "record_id": "P52168-1",
            "evidence": [
                {
                    "id": "0111733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14118-1",
            "uniprot_ac": "Q14118",
            "uniprot_id": "DAG1_HUMAN",
            "refseq_ac": "NP_001159400",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dystroglycan 1",
                    "type": "recommended"
                },
                {
                    "name": "Dystroglycan",
                    "type": "synonym"
                },
                {
                    "name": "Dystrophin-associated glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "dystroglycan 1 (dystrophin-associated glycoprotein 1)",
                    "type": "synonym"
                },
                {
                    "name": "dystroglycan 1 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DAG1",
                    "type": "recommended"
                },
                {
                    "name": "156DAG",
                    "type": "synonym"
                },
                {
                    "name": "A3a",
                    "type": "synonym"
                },
                {
                    "name": "AGRNR",
                    "type": "synonym"
                },
                {
                    "name": "DAG1",
                    "type": "synonym"
                },
                {
                    "name": "DAG",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR16",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA9",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC7",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14118-1",
            "evidence": [
                {
                    "id": "0111733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111733"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111733"
}