{
    "disease_id": "DOID:0060778",
    "recommended_name": {
        "id": "DOID:0060778",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060778",
        "name": "congenital diarrhea 7 with exudative enteropathy",
        "description": "A congenital diarrhea characterized by early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas that has_material_basis_in homozygous or compound heterozygous mutation in the DGAT1 gene on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "DOID:0060778",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060778",
            "name": "congenital chronic diarrhoea with protein-losing enteropathy",
            "description": ""
        },
        {
            "id": "DOID:0060778",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060778",
            "name": "congenital diarrhoea 7 with exudative enteropathy",
            "description": ""
        },
        {
            "id": "DOID:0060778",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060778",
            "name": "congenital chronic diarrhea with exudative enteropathy",
            "description": ""
        },
        {
            "id": "DOID:0060778",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060778",
            "name": "congenital chronic diarrhea with protein-losing enteropathy",
            "description": ""
        },
        {
            "id": "DOID:0060778",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060778",
            "name": "congenital chronic diarrhoea with exudative enteropathy",
            "description": ""
        },
        {
            "id": "MONDO:0014375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014375",
            "name": "congenital diarrhea 7 with exudative enteropathy",
            "description": "Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema."
        },
        {
            "id": "MONDO:0014375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014375",
            "name": "DGAT1 congenital diarrhea",
            "description": ""
        },
        {
            "id": "MONDO:0014375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014375",
            "name": "DGAT1 congenital diarrhoea",
            "description": ""
        },
        {
            "id": "MONDO:0014375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014375",
            "name": "congenital chronic diarrhea with exudative enteropathy",
            "description": ""
        },
        {
            "id": "MONDO:0014375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014375",
            "name": "congenital chronic diarrhea with protein-losing enteropathy",
            "description": ""
        },
        {
            "id": "MONDO:0014375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014375",
            "name": "congenital diarrhea caused by mutation in DGAT1",
            "description": ""
        },
        {
            "id": "MONDO:0014375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014375",
            "name": "congenital diarrhoea caused by mutation in DGAT1",
            "description": ""
        },
        {
            "id": "MONDO:0014375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014375",
            "name": "diarrhea 7, protein-losing enteropathy type",
            "description": ""
        },
        {
            "id": "MONDO:0014375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014375",
            "name": "diarrhea type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014375",
            "name": "diarrhoea 7, protein-losing enteropathy type",
            "description": ""
        },
        {
            "id": "MONDO:0014375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014375",
            "name": "diarrhoea type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014375",
            "name": "DIAR7",
            "description": ""
        },
        {
            "id": "MONDO:0014375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014375",
            "name": "diarrhea 7",
            "description": ""
        },
        {
            "id": "MONDO:0014375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014375",
            "name": "diarrhoea 7",
            "description": ""
        },
        {
            "id": "MIM:615863",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615863",
            "name": "Diarrhea 7, protein-losing enteropathy type",
            "description": "Diarrhea 7, protein-losing enteropathy type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060778"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060778",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060778",
            "categories": []
        },
        {
            "id": "MONDO:0014375",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014375",
            "categories": []
        },
        {
            "id": "MIM:615863",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615863",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HG58-1",
            "uniprot_ac": "A0AC58HG58",
            "uniprot_id": "A0AC58HG58_DANRE",
            "refseq_ac": "XP_073780971",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diacylglycerol O-acyltransferase 1b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol O-acyltransferase 1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dgat1b",
                    "type": "recommended"
                },
                {
                    "name": "dgat1b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92327",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HG58-1",
            "evidence": [
                {
                    "id": "0060778",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060778"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2A7-1",
            "uniprot_ac": "Q9Z2A7",
            "uniprot_id": "DGAT1_MOUSE",
            "refseq_ac": "NP_034176",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diacylglycerol O-acyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.20",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.76",
                    "type": "synonym"
                },
                {
                    "name": "ARAT",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-CoA retinol O-fatty-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Diglyceride acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Retinol O-fatty-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA retinol O-fatty-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol O-acyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "diglyceride acyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dgat1",
                    "type": "recommended"
                },
                {
                    "name": "ARAT",
                    "type": "synonym"
                },
                {
                    "name": "D15Ertd23e",
                    "type": "synonym"
                },
                {
                    "name": "Dgat1",
                    "type": "synonym"
                },
                {
                    "name": "Dgat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2A7-1",
            "evidence": [
                {
                    "id": "0060778",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060778"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75907-1",
            "uniprot_ac": "O75907",
            "uniprot_id": "DGAT1_HUMAN",
            "refseq_ac": "NP_036211",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diacylglycerol O-acyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.20",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.76",
                    "type": "synonym"
                },
                {
                    "name": "ACAT related gene product 1",
                    "type": "synonym"
                },
                {
                    "name": "ACAT-related gene product 1",
                    "type": "synonym"
                },
                {
                    "name": "ARAT",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-CoA retinol O-fatty-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Diglyceride acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Retinol O-fatty-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "acyl coenzyme A:cholesterol acyltransferase related gene 1",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA retinol O-fatty-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA:diacylglycerol acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol O-acyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "diglyceride acyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DGAT1",
                    "type": "recommended"
                },
                {
                    "name": "AGRP1",
                    "type": "synonym"
                },
                {
                    "name": "ARAT",
                    "type": "synonym"
                },
                {
                    "name": "ARGP1",
                    "type": "synonym"
                },
                {
                    "name": "DGAT1",
                    "type": "synonym"
                },
                {
                    "name": "DGAT",
                    "type": "synonym"
                },
                {
                    "name": "DIAR7",
                    "type": "synonym"
                }
            ],
            "record_id": "O75907-1",
            "evidence": [
                {
                    "id": "615863",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615863"
                },
                {
                    "id": "0060778",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060778"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RBX0-1",
            "uniprot_ac": "M0RBX0",
            "uniprot_id": "M0RBX0_RAT",
            "refseq_ac": "NP_001000323",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Olfactory receptor",
                    "type": "recommended"
                },
                {
                    "name": "olfactory receptor 554",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor Olr554",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor gene Olr554",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Or12e1",
                    "type": "recommended"
                },
                {
                    "name": "Olr554",
                    "type": "synonym"
                },
                {
                    "name": "Or12e1",
                    "type": "synonym"
                },
                {
                    "name": "ratchr3-70770888-70771838_ORF",
                    "type": "synonym"
                }
            ],
            "record_id": "M0RBX0-1",
            "evidence": [
                {
                    "id": "0060778",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060778"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ERM3-1",
            "uniprot_ac": "Q9ERM3",
            "uniprot_id": "DGAT1_RAT",
            "refseq_ac": "NP_445889",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diacylglycerol O-acyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.20",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.76",
                    "type": "synonym"
                },
                {
                    "name": "ARAT",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-CoA retinol O-fatty-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Diglyceride acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Retinol O-fatty-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA retinol O-fatty-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-coenzyme A:diacylglycerol acyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol O-acyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "diglyceride acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "retinol O-fatty-acyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dgat1",
                    "type": "recommended"
                },
                {
                    "name": "ARAT",
                    "type": "synonym"
                },
                {
                    "name": "Dgat1",
                    "type": "synonym"
                },
                {
                    "name": "Dgat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ERM3-1",
            "evidence": [
                {
                    "id": "0060778",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060778"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06761-1",
            "uniprot_ac": "P06761",
            "uniprot_id": "BIP_RAT",
            "refseq_ac": "NP_037215",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endoplasmic reticulum chaperone BiP",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.10",
                    "type": "synonym"
                },
                {
                    "name": "78 kDa glucose-regulated protein",
                    "type": "synonym"
                },
                {
                    "name": "BiP",
                    "type": "synonym"
                },
                {
                    "name": "Binding-immunoglobulin protein",
                    "type": "synonym"
                },
                {
                    "name": "GRP-78",
                    "type": "synonym"
                },
                {
                    "name": "HSP70 family protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein 70 family protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein family A member 5",
                    "type": "synonym"
                },
                {
                    "name": "Immunoglobulin heavy chain-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Steroidogenesis-activator polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "binding-immunoglobulin protein",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum chaperone BiP precursor",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum chaperone BiP",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 70 kDa protein 5",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 70kD protein 5",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 70kDa protein 5 (glucose-regulated protein)",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 5",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 70 family protein 5",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein family A member 5",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin heavy chain-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "steroidogenesis-activator polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hspa5",
                    "type": "recommended"
                },
                {
                    "name": "BIP",
                    "type": "synonym"
                },
                {
                    "name": "GRP 78",
                    "type": "synonym"
                },
                {
                    "name": "GRP78",
                    "type": "synonym"
                },
                {
                    "name": "Grp78",
                    "type": "synonym"
                },
                {
                    "name": "Hspa5",
                    "type": "synonym"
                }
            ],
            "record_id": "P06761-1",
            "evidence": [
                {
                    "id": "0060778",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060778"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060778"
}