{
    "disease_id": "DOID:0060779",
    "recommended_name": {
        "id": "DOID:0060779",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060779",
        "name": "congenital malabsorptive diarrhea 4",
        "description": "A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0060779",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060779",
            "name": "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells",
            "description": ""
        },
        {
            "id": "DOID:0060779",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060779",
            "name": "congenital malabsorptive diarrhoea 4",
            "description": ""
        },
        {
            "id": "DOID:0060779",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060779",
            "name": "enteric anendocrinosis",
            "description": ""
        },
        {
            "id": "DOID:0060779",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060779",
            "name": "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells",
            "description": ""
        },
        {
            "id": "MONDO:0012479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012479",
            "name": "congenital malabsorptive diarrhea 4",
            "description": "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported."
        },
        {
            "id": "MONDO:0012479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012479",
            "name": "congenital malabsorptive diarrhea type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012479",
            "name": "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells",
            "description": ""
        },
        {
            "id": "MONDO:0012479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012479",
            "name": "diarrhea 4, malabsorptive, congenital; DIAR4",
            "description": ""
        },
        {
            "id": "MONDO:0012479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012479",
            "name": "diarrhea 4, malabsorptive, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0012479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012479",
            "name": "enteric anendocrinosis",
            "description": ""
        },
        {
            "id": "MONDO:0012479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012479",
            "name": "NEUROG3 congenital diarrhea",
            "description": ""
        },
        {
            "id": "MONDO:0012479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012479",
            "name": "DIAR4",
            "description": ""
        },
        {
            "id": "MONDO:0012479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012479",
            "name": "congenital diarrhea caused by mutation in NEUROG3",
            "description": ""
        },
        {
            "id": "MIM:610370",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610370",
            "name": "Diarrhea 4, malabsorptive, congenital",
            "description": "Diarrhea 4, malabsorptive, congenital"
        }
    ]
}