{
    "disease_id": "DOID:0060776",
    "recommended_name": {
        "id": "DOID:0060776",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060776",
        "name": "congenital diarrhea 5 with tufting enteropathy",
        "description": "A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21."
    },
    "synonyms": [
        {
            "id": "DOID:0060776",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060776",
            "name": "congenital familial intractable diarrhea with epithelial or epithelium abnormalities",
            "description": ""
        },
        {
            "id": "DOID:0060776",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060776",
            "name": "DIAR5",
            "description": ""
        },
        {
            "id": "DOID:0060776",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060776",
            "name": "congenital diarrhoea 5 with tufting enteropathy",
            "description": ""
        },
        {
            "id": "DOID:0060776",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060776",
            "name": "congenital tufting enteropathy",
            "description": ""
        },
        {
            "id": "DOID:0060776",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060776",
            "name": "tufting enteropathy",
            "description": ""
        },
        {
            "id": "DOID:0060776",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060776",
            "name": "congenital familial intractable diarrhoea with epithelial or epithelium abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0013184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013184",
            "name": "congenital diarrhea 5 with tufting enteropathy",
            "description": "Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure."
        },
        {
            "id": "MONDO:0013184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013184",
            "name": "DIAR5",
            "description": ""
        },
        {
            "id": "MONDO:0013184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013184",
            "name": "EPCAM secretory diarrhea",
            "description": ""
        },
        {
            "id": "MONDO:0013184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013184",
            "name": "EPCAM secretory diarrhoea",
            "description": ""
        },
        {
            "id": "MONDO:0013184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013184",
            "name": "IED",
            "description": ""
        },
        {
            "id": "MONDO:0013184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013184",
            "name": "congenital diarrhea 5 with tufting enteropathy",
            "description": ""
        },
        {
            "id": "MONDO:0013184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013184",
            "name": "congenital tufting enteropathy",
            "description": ""
        },
        {
            "id": "MONDO:0013184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013184",
            "name": "intestinal epithelial dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013184",
            "name": "secretory diarrhea caused by mutation in EPCAM",
            "description": ""
        },
        {
            "id": "MONDO:0013184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013184",
            "name": "secretory diarrhoea caused by mutation in EPCAM",
            "description": ""
        },
        {
            "id": "MONDO:0013184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013184",
            "name": "tufting enteropathy",
            "description": ""
        },
        {
            "id": "MONDO:0013184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013184",
            "name": "congenital enteropathy",
            "description": ""
        },
        {
            "id": "MONDO:0013184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013184",
            "name": "congenital familial intractable diarrhea with enterocytes assembly abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0013184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013184",
            "name": "congenital familial intractable diarrhoea with enterocytes assembly abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0013184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013184",
            "name": "diarrhea 5, with tufting enteropathy, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0013184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013184",
            "name": "diarrhoea 5, with tufting enteropathy, congenital",
            "description": ""
        },
        {
            "id": "MIM:613217",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613217",
            "name": "Diarrhea 5, with tufting enteropathy, congenital",
            "description": "Diarrhea 5, with tufting enteropathy, congenital"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060776"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060776",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060776",
            "categories": []
        },
        {
            "id": "MONDO:0013184",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013184",
            "categories": []
        },
        {
            "id": "MIM:613217",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613217",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99JW5-1",
            "uniprot_ac": "Q99JW5",
            "uniprot_id": "EPCAM_MOUSE",
            "refseq_ac": "NP_032558",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial cell adhesion molecule",
                    "type": "recommended"
                },
                {
                    "name": "EGP314",
                    "type": "synonym"
                },
                {
                    "name": "Ep-CAM",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial glycoprotein 314",
                    "type": "synonym"
                },
                {
                    "name": "Protein 289A",
                    "type": "synonym"
                },
                {
                    "name": "Trop-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Tumor-associated calcium signal transducer 1",
                    "type": "synonym"
                },
                {
                    "name": "epithelial cell adhesion molecule precursor",
                    "type": "synonym"
                },
                {
                    "name": "epithelial glycoprotein 314",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte antigen 74",
                    "type": "synonym"
                },
                {
                    "name": "mEGP314",
                    "type": "synonym"
                },
                {
                    "name": "panepithelial glycoprotein 314",
                    "type": "synonym"
                },
                {
                    "name": "protein 289A",
                    "type": "synonym"
                },
                {
                    "name": "tumor-associated calcium signal transducer 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epcam",
                    "type": "recommended"
                },
                {
                    "name": "CD326",
                    "type": "synonym"
                },
                {
                    "name": "EGP-2",
                    "type": "synonym"
                },
                {
                    "name": "EGP",
                    "type": "synonym"
                },
                {
                    "name": "Egp314",
                    "type": "synonym"
                },
                {
                    "name": "Ep-CAM",
                    "type": "synonym"
                },
                {
                    "name": "EpCAM1",
                    "type": "synonym"
                },
                {
                    "name": "Epcam",
                    "type": "synonym"
                },
                {
                    "name": "GA733-2",
                    "type": "synonym"
                },
                {
                    "name": "Ly74",
                    "type": "synonym"
                },
                {
                    "name": "TROP1",
                    "type": "synonym"
                },
                {
                    "name": "Tacsd1",
                    "type": "synonym"
                },
                {
                    "name": "Tacstd1",
                    "type": "synonym"
                },
                {
                    "name": "gp40",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99JW5-1",
            "evidence": [
                {
                    "id": "0060776",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060776"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16422-1",
            "uniprot_ac": "P16422",
            "uniprot_id": "EPCAM_HUMAN",
            "refseq_ac": "NP_002345",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial cell adhesion molecule",
                    "type": "recommended"
                },
                {
                    "name": "Adenocarcinoma-associated antigen",
                    "type": "synonym"
                },
                {
                    "name": "Cell surface glycoprotein Trop-1",
                    "type": "synonym"
                },
                {
                    "name": "EGP314",
                    "type": "synonym"
                },
                {
                    "name": "EGP",
                    "type": "synonym"
                },
                {
                    "name": "Ep-CAM",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial cell surface antigen",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial glycoprotein 314",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "KS 1/4 antigen",
                    "type": "synonym"
                },
                {
                    "name": "KSA",
                    "type": "synonym"
                },
                {
                    "name": "Major gastrointestinal tumor-associated protein GA733-2",
                    "type": "synonym"
                },
                {
                    "name": "Tumor-associated calcium signal transducer 1",
                    "type": "synonym"
                },
                {
                    "name": "adenocarcinoma-associated antigen",
                    "type": "synonym"
                },
                {
                    "name": "cell surface glycoprotein Trop-1",
                    "type": "synonym"
                },
                {
                    "name": "epithelial cell adhesion molecule precursor",
                    "type": "synonym"
                },
                {
                    "name": "epithelial glycoprotein 314",
                    "type": "synonym"
                },
                {
                    "name": "hEGP314",
                    "type": "synonym"
                },
                {
                    "name": "human epithelial glycoprotein-2",
                    "type": "synonym"
                },
                {
                    "name": "major gastrointestinal tumor-associated protein GA733-2",
                    "type": "synonym"
                },
                {
                    "name": "membrane component, chromosome 4, surface marker (35kD glycoprotein)",
                    "type": "synonym"
                },
                {
                    "name": "trophoblast cell surface antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "tumor-associated calcium signal transducer 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPCAM",
                    "type": "recommended"
                },
                {
                    "name": "Ber-Ep4",
                    "type": "synonym"
                },
                {
                    "name": "BerEp4",
                    "type": "synonym"
                },
                {
                    "name": "DIAR5",
                    "type": "synonym"
                },
                {
                    "name": "EGP-2",
                    "type": "synonym"
                },
                {
                    "name": "EGP314",
                    "type": "synonym"
                },
                {
                    "name": "EGP40",
                    "type": "synonym"
                },
                {
                    "name": "EPCAM",
                    "type": "synonym"
                },
                {
                    "name": "ESA",
                    "type": "synonym"
                },
                {
                    "name": "GA733-2",
                    "type": "synonym"
                },
                {
                    "name": "HNPCC8",
                    "type": "synonym"
                },
                {
                    "name": "KS1/4",
                    "type": "synonym"
                },
                {
                    "name": "KSA",
                    "type": "synonym"
                },
                {
                    "name": "LYNCH8",
                    "type": "synonym"
                },
                {
                    "name": "M1S2",
                    "type": "synonym"
                },
                {
                    "name": "M4S1",
                    "type": "synonym"
                },
                {
                    "name": "MIC18",
                    "type": "synonym"
                },
                {
                    "name": "MK-1",
                    "type": "synonym"
                },
                {
                    "name": "MOC-31",
                    "type": "synonym"
                },
                {
                    "name": "TACSTD1",
                    "type": "synonym"
                },
                {
                    "name": "TROP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P16422-1",
            "evidence": [
                {
                    "id": "613217",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613217"
                },
                {
                    "id": "0060776",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060776"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O55159-1",
            "uniprot_ac": "O55159",
            "uniprot_id": "EPCAM_RAT",
            "refseq_ac": "NP_612550",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial cell adhesion molecule",
                    "type": "recommended"
                },
                {
                    "name": "EGP314",
                    "type": "synonym"
                },
                {
                    "name": "Ep-CAM",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial glycoprotein 314",
                    "type": "synonym"
                },
                {
                    "name": "Protein D5.7A",
                    "type": "synonym"
                },
                {
                    "name": "Tumor-associated calcium signal transducer 1",
                    "type": "synonym"
                },
                {
                    "name": "ep-CAM",
                    "type": "synonym"
                },
                {
                    "name": "epithelial cell adhesion molecule precursor",
                    "type": "synonym"
                },
                {
                    "name": "epithelial glycoprotein 314",
                    "type": "synonym"
                },
                {
                    "name": "tumor-associated calcium signal transducer 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epcam",
                    "type": "recommended"
                },
                {
                    "name": "Egp314",
                    "type": "synonym"
                },
                {
                    "name": "Epcam",
                    "type": "synonym"
                },
                {
                    "name": "Tacstd1",
                    "type": "synonym"
                }
            ],
            "record_id": "O55159-1",
            "evidence": [
                {
                    "id": "0060776",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060776"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060776"
}