{
    "disease_id": "DOID:0060296",
    "recommended_name": {
        "id": "DOID:0060296",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060296",
        "name": "congenital secretory chloride diarrhea 1",
        "description": "A secretory diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis that has_material_basis_in homozygous mutation in the SLC26A3 gene on chromosome 7q22-q31."
    },
    "synonyms": [
        {
            "id": "DOID:0060296",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060296",
            "name": "congenital chloride diarrhea finnish type",
            "description": ""
        },
        {
            "id": "DOID:0060296",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060296",
            "name": "congenital chloride diarrhoea finnish type",
            "description": ""
        },
        {
            "id": "DOID:0060296",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060296",
            "name": "congenital chloridorrhea",
            "description": ""
        },
        {
            "id": "DOID:0060296",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060296",
            "name": "congenital secretory chloride diarrhoea 1",
            "description": ""
        },
        {
            "id": "MONDO:0008964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008964",
            "name": "congenital secretory chloride diarrhea 1",
            "description": "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene."
        },
        {
            "id": "MONDO:0008964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008964",
            "name": "SLC26A3 secretory diarrhea",
            "description": ""
        },
        {
            "id": "MONDO:0008964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008964",
            "name": "SLC26A3 secretory diarrhoea",
            "description": ""
        },
        {
            "id": "MONDO:0008964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008964",
            "name": "congenital chloridorrhea",
            "description": ""
        },
        {
            "id": "MONDO:0008964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008964",
            "name": "congenital secretory chloride diarrhea type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008964",
            "name": "congenital secretory chloride diarrhoea type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008964",
            "name": "secretory diarrhea caused by mutation in SLC26A3",
            "description": ""
        },
        {
            "id": "MONDO:0008964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008964",
            "name": "secretory diarrhoea caused by mutation in SLC26A3",
            "description": ""
        },
        {
            "id": "MONDO:0008964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008964",
            "name": "CLD",
            "description": ""
        },
        {
            "id": "MONDO:0008964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008964",
            "name": "DIAR1",
            "description": ""
        },
        {
            "id": "MONDO:0008964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008964",
            "name": "Darrow-gamble disease",
            "description": ""
        },
        {
            "id": "MONDO:0008964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008964",
            "name": "congenital chloride diarrhoea",
            "description": ""
        },
        {
            "id": "MONDO:0008964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008964",
            "name": "diarrhea 1, secretory chloride, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0008964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008964",
            "name": "diarrhoea 1, secretory chloride, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0008964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008964",
            "name": "familial chloride diarrhea",
            "description": ""
        },
        {
            "id": "MONDO:0008964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008964",
            "name": "familial chloride diarrhoea",
            "description": ""
        },
        {
            "id": "MIM:214700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/214700",
            "name": "Diarrhea 1, secretory chloride, congenital",
            "description": "Diarrhea 1, secretory chloride, congenital"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060296"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060296",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060296",
            "categories": []
        },
        {
            "id": "MONDO:0008964",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008964",
            "categories": []
        },
        {
            "id": "MIM:214700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/214700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q0J5-1",
            "uniprot_ac": "A0A8M9Q0J5",
            "uniprot_id": "A0A8M9Q0J5_DANRE",
            "refseq_ac": "XP_021330724",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 26 member 3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 26 member 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc26a3.1",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-31f5.2",
                    "type": "synonym"
                },
                {
                    "name": "slc26a3.1",
                    "type": "synonym"
                },
                {
                    "name": "slc26a3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q0J5-1",
            "evidence": [
                {
                    "id": "0060296",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060296"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVC8-1",
            "uniprot_ac": "Q9WVC8",
            "uniprot_id": "S26A3_MOUSE",
            "refseq_ac": "NP_067328",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride anion exchanger",
                    "type": "recommended"
                },
                {
                    "name": "Down-regulated in adenoma",
                    "type": "synonym"
                },
                {
                    "name": "Protein DRA",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 26 member 3",
                    "type": "synonym"
                },
                {
                    "name": "chloride anion exchanger",
                    "type": "synonym"
                },
                {
                    "name": "down-regulated in adenoma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc26a3",
                    "type": "recommended"
                },
                {
                    "name": "9030623B18Rik",
                    "type": "synonym"
                },
                {
                    "name": "9130013M11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dra",
                    "type": "synonym"
                },
                {
                    "name": "Slc26a3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVC8-1",
            "evidence": [
                {
                    "id": "0060296",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060296"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40879-1",
            "uniprot_ac": "P40879",
            "uniprot_id": "S26A3_HUMAN",
            "refseq_ac": "NP_000102",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride anion exchanger",
                    "type": "recommended"
                },
                {
                    "name": "Down-regulated in adenoma",
                    "type": "synonym"
                },
                {
                    "name": "Protein DRA",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 26 member 3",
                    "type": "synonym"
                },
                {
                    "name": "chloride anion exchanger",
                    "type": "synonym"
                },
                {
                    "name": "down-regulated in adenoma protein",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 26 (anion exchanger), member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC26A3",
                    "type": "recommended"
                },
                {
                    "name": "CLD",
                    "type": "synonym"
                },
                {
                    "name": "DRA",
                    "type": "synonym"
                },
                {
                    "name": "SLC26A3",
                    "type": "synonym"
                }
            ],
            "record_id": "P40879-1",
            "evidence": [
                {
                    "id": "214700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/214700"
                },
                {
                    "id": "0060296",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060296"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53394-1",
            "uniprot_ac": "P53394",
            "uniprot_id": "SULX_YEAST",
            "refseq_ac": "NP_015328",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative sulfate transporter YPR003C",
                    "type": "recommended"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LPZ3C",
                    "type": "synonym"
                },
                {
                    "name": "YP9723.03C",
                    "type": "synonym"
                }
            ],
            "record_id": "P53394-1",
            "evidence": [
                {
                    "id": "0060296",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060296"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q924C9-1",
            "uniprot_ac": "Q924C9",
            "uniprot_id": "S26A3_RAT",
            "refseq_ac": "NP_446207",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride anion exchanger",
                    "type": "recommended"
                },
                {
                    "name": "Down-regulated in adenoma",
                    "type": "synonym"
                },
                {
                    "name": "Protein DRA",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 26 member 3",
                    "type": "synonym"
                },
                {
                    "name": "chloride anion exchanger",
                    "type": "synonym"
                },
                {
                    "name": "down-regulated in adenoma",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 26 (anion exchanger), member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc26a3",
                    "type": "recommended"
                },
                {
                    "name": "Dra",
                    "type": "synonym"
                },
                {
                    "name": "Slc26a3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q924C9-1",
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                {
                    "id": "0060296",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060296"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVM6-1",
            "uniprot_ac": "Q9VVM6",
            "uniprot_id": "Q9VVM6_DROME",
            "refseq_ac": "NP_649024",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5485-PA",
                    "type": "synonym"
                },
                {
                    "name": "Prestin-PA",
                    "type": "synonym"
                },
                {
                    "name": "Prestin",
                    "type": "synonym"
                },
                {
                    "name": "prestin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prestin",
                    "type": "recommended"
                },
                {
                    "name": "CG5485",
                    "type": "synonym"
                },
                {
                    "name": "CG5845",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5485",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5485",
                    "type": "synonym"
                },
                {
                    "name": "Prestin",
                    "type": "synonym"
                },
                {
                    "name": "Slc26a5",
                    "type": "synonym"
                },
                {
                    "name": "dPrestin",
                    "type": "synonym"
                },
                {
                    "name": "dpres",
                    "type": "synonym"
                },
                {
                    "name": "prestin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVM6-1",
            "evidence": [
                {
                    "id": "0060296",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060296"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060296"
}