{
    "disease_id": "DOID:0060779",
    "recommended_name": {
        "id": "DOID:0060779",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060779",
        "name": "congenital malabsorptive diarrhea 4",
        "description": "A congenital diarrhea characterized by severe intestinal malabsorption and an absence of 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": "https://disease-ontology.org/term/DOID:0060779",
            "name": "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells",
            "description": ""
        },
        {
            "id": "DOID:0060779",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060779",
            "name": "congenital malabsorptive diarrhoea 4",
            "description": ""
        },
        {
            "id": "DOID:0060779",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060779",
            "name": "enteric anendocrinosis",
            "description": ""
        },
        {
            "id": "DOID:0060779",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060779",
            "name": "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells",
            "description": ""
        },
        {
            "id": "DOID:0060779",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060779",
            "name": "congenital malabsorptive diarrhea with diabetes mellitus and combined pituitary hormone deficiency",
            "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": "NEUROG3 congenital diarrhea",
            "description": ""
        },
        {
            "id": "MONDO:0012479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012479",
            "name": "NEUROG3 congenital diarrhoea",
            "description": ""
        },
        {
            "id": "MONDO:0012479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012479",
            "name": "congenital diarrhea caused by mutation in NEUROG3",
            "description": ""
        },
        {
            "id": "MONDO:0012479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012479",
            "name": "congenital diarrhoea caused by mutation in NEUROG3",
            "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": "congenital malabsorptive diarrhea type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012479",
            "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 diarrhoea type 4",
            "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": "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": "diarrhoea 4, malabsorptive, congenital",
            "description": ""
        },
        {
            "id": "MIM:610370",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610370",
            "name": "Diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiency",
            "description": "Diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060779"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060779",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060779",
            "categories": []
        },
        {
            "id": "MONDO:0012479",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012479",
            "categories": []
        },
        {
            "id": "MIM:610370",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610370",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P70661-1",
            "uniprot_ac": "P70661",
            "uniprot_id": "NGN3_MOUSE",
            "refseq_ac": "NP_033849",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenin-3",
                    "type": "recommended"
                },
                {
                    "name": "Helix-loop-helix protein mATH-4B",
                    "type": "synonym"
                },
                {
                    "name": "NGN-3",
                    "type": "synonym"
                },
                {
                    "name": "Neurogenin 3 (Atonal protein homolog 5) (Helix-loop-helix protein mATH-4B) (MATH4B)",
                    "type": "synonym"
                },
                {
                    "name": "Protein atonal homolog 5",
                    "type": "synonym"
                },
                {
                    "name": "helix-loop-helix protein mATH-4B",
                    "type": "synonym"
                },
                {
                    "name": "mATH4B",
                    "type": "synonym"
                },
                {
                    "name": "neurogenin-3",
                    "type": "synonym"
                },
                {
                    "name": "protein atonal homolog 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Neurog3",
                    "type": "recommended"
                },
                {
                    "name": "Ath4b",
                    "type": "synonym"
                },
                {
                    "name": "Atoh5",
                    "type": "synonym"
                },
                {
                    "name": "Math4B",
                    "type": "synonym"
                },
                {
                    "name": "Neurog3",
                    "type": "synonym"
                },
                {
                    "name": "Ngn3",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa7",
                    "type": "synonym"
                },
                {
                    "name": "ngn3",
                    "type": "synonym"
                }
            ],
            "record_id": "P70661-1",
            "evidence": [
                {
                    "id": "0060779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y4Z2-1",
            "uniprot_ac": "Q9Y4Z2",
            "uniprot_id": "NGN3_HUMAN",
            "refseq_ac": "NP_066279",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenin-3",
                    "type": "recommended"
                },
                {
                    "name": "Class A basic helix-loop-helix protein 7",
                    "type": "synonym"
                },
                {
                    "name": "NGN-3",
                    "type": "synonym"
                },
                {
                    "name": "Protein atonal homolog 5",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa7",
                    "type": "synonym"
                },
                {
                    "name": "class A basic helix-loop-helix protein 7",
                    "type": "synonym"
                },
                {
                    "name": "neurogenin-3",
                    "type": "synonym"
                },
                {
                    "name": "protein atonal homolog 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEUROG3",
                    "type": "recommended"
                },
                {
                    "name": "ATOH5",
                    "type": "synonym"
                },
                {
                    "name": "Atoh5",
                    "type": "synonym"
                },
                {
                    "name": "BHLHA7",
                    "type": "synonym"
                },
                {
                    "name": "Math4B",
                    "type": "synonym"
                },
                {
                    "name": "NEUROG3",
                    "type": "synonym"
                },
                {
                    "name": "NGN-3",
                    "type": "synonym"
                },
                {
                    "name": "NGN3",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa7",
                    "type": "synonym"
                },
                {
                    "name": "ngn3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y4Z2-1",
            "evidence": [
                {
                    "id": "610370",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610370"
                },
                {
                    "id": "0060779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08718-1",
            "uniprot_ac": "O08718",
            "uniprot_id": "O08718_RAT",
            "refseq_ac": "NP_067732",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenin 3",
                    "type": "synonym"
                },
                {
                    "name": "neurogenin-3",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional regulator, Relax",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Neurog3",
                    "type": "recommended"
                },
                {
                    "name": "Neurog3",
                    "type": "synonym"
                },
                {
                    "name": "Ngn3",
                    "type": "synonym"
                },
                {
                    "name": "Relax",
                    "type": "synonym"
                }
            ],
            "record_id": "O08718-1",
            "evidence": [
                {
                    "id": "0060779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O16867-1",
            "uniprot_ac": "O16867",
            "uniprot_id": "TAP_DROME",
            "refseq_ac": "NP_524124",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Basic helix-loop-helix neural transcription factor TAP",
                    "type": "recommended"
                },
                {
                    "name": "CG7659-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein biparous",
                    "type": "synonym"
                },
                {
                    "name": "Target of Poxn protein",
                    "type": "synonym"
                },
                {
                    "name": "biparous",
                    "type": "synonym"
                },
                {
                    "name": "tap-PA",
                    "type": "synonym"
                },
                {
                    "name": "target of Pox-n",
                    "type": "synonym"
                },
                {
                    "name": "target of poxn",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tap",
                    "type": "recommended"
                },
                {
                    "name": "CG7659",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7659",
                    "type": "synonym"
                },
                {
                    "name": "TAP",
                    "type": "synonym"
                },
                {
                    "name": "Tap",
                    "type": "synonym"
                },
                {
                    "name": "bHLHc9",
                    "type": "synonym"
                },
                {
                    "name": "bps",
                    "type": "synonym"
                },
                {
                    "name": "l(3)01658",
                    "type": "synonym"
                },
                {
                    "name": "tap",
                    "type": "synonym"
                }
            ],
            "record_id": "O16867-1",
            "evidence": [
                {
                    "id": "0060779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060779"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060779"
}