{
    "disease_id": "DOID:0111733",
    "recommended_name": {
        "id": "DOID:0111733",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0111733",
            "name": "HDCA",
            "description": ""
        },
        {
            "id": "DOID:0111733",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111733",
            "name": "PACHD",
            "description": ""
        },
        {
            "id": "DOID:0111733",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111733",
            "name": "Yorifuji-Okuno syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111733",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111733",
            "name": "pancreatic agenesis and congenital heart defects",
            "description": ""
        },
        {
            "id": "DOID:0111733",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111733",
            "name": "congenital heart defects and other congenital anomalies",
            "description": ""
        },
        {
            "id": "DOID:0111733",
            "resource": "Disease Ontology",
            "url": "http://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": "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is 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": "pancreatic agenesis and congenital heart defects",
            "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": "heart defects, congenital, and other congenital anomalies; HDCA",
            "description": ""
        },
        {
            "id": "MONDO:0010802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010802",
            "name": "pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease",
            "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": "heart defects, congenital, and other congenital anomalies",
            "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": "hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease",
            "description": ""
        },
        {
            "id": "MONDO:0010802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010802",
            "name": "Yorifuji Okuno syndrome",
            "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"
        }
    ]
}