{
    "disease_id": "DOID:0060780",
    "recommended_name": {
        "id": "DOID:0060780",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060780",
        "name": "congenital diarrhea 6",
        "description": "A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12."
    },
    "synonyms": [
        {
            "id": "DOID:0060780",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060780",
            "name": "chronic diarrhoea due to guanylate cyclase 2C overactivity",
            "description": ""
        },
        {
            "id": "DOID:0060780",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060780",
            "name": "chronic diarrhea due to guanylate cyclase 2C overactivity",
            "description": ""
        },
        {
            "id": "DOID:0060780",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060780",
            "name": "congenital diarrhoea 6",
            "description": ""
        },
        {
            "id": "MONDO:0013825",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013825",
            "name": "congenital diarrhea 6",
            "description": "Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene."
        },
        {
            "id": "MONDO:0013825",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013825",
            "name": "GUCY2C congenital diarrhea",
            "description": ""
        },
        {
            "id": "MONDO:0013825",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013825",
            "name": "GUCY2C congenital diarrhoea",
            "description": ""
        },
        {
            "id": "MONDO:0013825",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013825",
            "name": "congenital diarrhea caused by mutation in GUCY2C",
            "description": ""
        },
        {
            "id": "MONDO:0013825",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013825",
            "name": "congenital diarrhea type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013825",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013825",
            "name": "congenital diarrhoea caused by mutation in GUCY2C",
            "description": ""
        },
        {
            "id": "MONDO:0013825",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013825",
            "name": "congenital diarrhoea type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013825",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013825",
            "name": "diarrhea type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013825",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013825",
            "name": "diarrhoea type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013825",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013825",
            "name": "DIAR6",
            "description": ""
        },
        {
            "id": "MONDO:0013825",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013825",
            "name": "diarrhea 6",
            "description": ""
        },
        {
            "id": "MONDO:0013825",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013825",
            "name": "diarrhoea 6",
            "description": ""
        },
        {
            "id": "MIM:614616",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614616",
            "name": "Diarrhea 6",
            "description": "Diarrhea 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060780"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060780",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060780",
            "categories": []
        },
        {
            "id": "MONDO:0013825",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013825",
            "categories": []
        },
        {
            "id": "MIM:614616",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614616",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6Z2-1",
            "uniprot_ac": "A0ACD6B6Z2",
            "uniprot_id": "A0ACD6B6Z2_DANRE",
            "refseq_ac": "XP_696628",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate cyclase",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase C isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gucy2cb",
                    "type": "recommended"
                },
                {
                    "name": "gucy2cb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6Z2-1",
            "evidence": [
                {
                    "id": "0060780",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060780"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UWA6-1",
            "uniprot_ac": "Q3UWA6",
            "uniprot_id": "GUC2C_MOUSE",
            "refseq_ac": "NP_001120790",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylyl cyclase C",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "GC-C",
                    "type": "synonym"
                },
                {
                    "name": "Heat-stable enterotoxin receptor",
                    "type": "synonym"
                },
                {
                    "name": "Intestinal guanylate cyclase",
                    "type": "synonym"
                },
                {
                    "name": "STA receptor",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase C isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase C",
                    "type": "synonym"
                },
                {
                    "name": "heat-stable enterotoxin receptor",
                    "type": "synonym"
                },
                {
                    "name": "intestinal guanylate cyclase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gucy2c",
                    "type": "recommended"
                },
                {
                    "name": "GC-C",
                    "type": "synonym"
                },
                {
                    "name": "Gcc",
                    "type": "synonym"
                },
                {
                    "name": "Guc2c",
                    "type": "synonym"
                },
                {
                    "name": "Gucy2c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UWA6-1",
            "evidence": [
                {
                    "id": "0060780",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060780"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25092-1",
            "uniprot_ac": "P25092",
            "uniprot_id": "GUC2C_HUMAN",
            "refseq_ac": "NP_004954",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylyl cyclase C",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "GC-C",
                    "type": "synonym"
                },
                {
                    "name": "Heat-stable enterotoxin receptor",
                    "type": "synonym"
                },
                {
                    "name": "Intestinal guanylate cyclase",
                    "type": "synonym"
                },
                {
                    "name": "STA receptor",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase C precursor",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase C",
                    "type": "synonym"
                },
                {
                    "name": "hSTAR",
                    "type": "synonym"
                },
                {
                    "name": "heat-stable enterotoxin receptor",
                    "type": "synonym"
                },
                {
                    "name": "intestinal guanylate cyclase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GUCY2C",
                    "type": "recommended"
                },
                {
                    "name": "DIAR6",
                    "type": "synonym"
                },
                {
                    "name": "GC-C",
                    "type": "synonym"
                },
                {
                    "name": "GCC",
                    "type": "synonym"
                },
                {
                    "name": "GUC2C",
                    "type": "synonym"
                },
                {
                    "name": "GUCY2C",
                    "type": "synonym"
                },
                {
                    "name": "HSER",
                    "type": "synonym"
                },
                {
                    "name": "MECIL",
                    "type": "synonym"
                },
                {
                    "name": "MUCIL",
                    "type": "synonym"
                },
                {
                    "name": "STAR",
                    "type": "synonym"
                }
            ],
            "record_id": "P25092-1",
            "evidence": [
                {
                    "id": "614616",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614616"
                },
                {
                    "id": "0060780",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060780"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23897-1",
            "uniprot_ac": "P23897",
            "uniprot_id": "GUC2C_RAT",
            "refseq_ac": "NP_037302",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylyl cyclase C",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "GC-C",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase 2C (heat stable enterotoxin receptor)",
                    "type": "synonym"
                },
                {
                    "name": "Heat-stable enterotoxin receptor",
                    "type": "synonym"
                },
                {
                    "name": "Intestinal guanylate cyclase",
                    "type": "synonym"
                },
                {
                    "name": "STA receptor",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase C precursor",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase C",
                    "type": "synonym"
                },
                {
                    "name": "heat-stable enterotoxin receptor",
                    "type": "synonym"
                },
                {
                    "name": "intestinal guanylate cyclase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gucy2c",
                    "type": "recommended"
                },
                {
                    "name": "GCC",
                    "type": "synonym"
                },
                {
                    "name": "Guc2c",
                    "type": "synonym"
                },
                {
                    "name": "Gucy2c",
                    "type": "synonym"
                }
            ],
            "record_id": "P23897-1",
            "evidence": [
                {
                    "id": "0060780",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060780"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VU79-1",
            "uniprot_ac": "Q9VU79",
            "uniprot_id": "Q9VU79_DROME",
            "refseq_ac": "NP_729905",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate cyclase",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG10738-PD",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EHR",
                    "type": "recommended"
                },
                {
                    "name": "CG10738",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10738",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10738",
                    "type": "synonym"
                },
                {
                    "name": "GYC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VU79-1",
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                {
                    "id": "0060780",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060780"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZB47-1",
            "uniprot_ac": "A1ZB47",
            "uniprot_id": "A1ZB47_DROME",
            "refseq_ac": "NP_001033958",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "guanylate cyclase",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG33958-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG5719",
                    "type": "recommended"
                },
                {
                    "name": "CG14501",
                    "type": "synonym"
                },
                {
                    "name": "CG33958",
                    "type": "synonym"
                },
                {
                    "name": "CG5719",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33958",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33958",
                    "type": "synonym"
                },
                {
                    "name": "GYC",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZB47-1",
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                {
                    "id": "0060780",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060780"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07553-1",
            "uniprot_ac": "Q07553",
            "uniprot_id": "GCY3E_DROME",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate cyclase 32E",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG33114-PD",
                    "type": "synonym"
                },
                {
                    "name": "Gyc32E-PD",
                    "type": "synonym"
                },
                {
                    "name": "guanyl cyclase at 32E",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase receptor-type",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase at 32E, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gyc32E",
                    "type": "recommended"
                },
                {
                    "name": "CG33114",
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                },
                {
                    "name": "CG6275",
                    "type": "synonym"
                },
                {
                    "name": "Cyg1",
                    "type": "synonym"
                },
                {
                    "name": "DMRGC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33114",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33114",
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                },
                {
                    "name": "GC",
                    "type": "synonym"
                },
                {
                    "name": "GYC 32E",
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                },
                {
                    "name": "Gyc-r",
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                },
                {
                    "name": "Gyc32E",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07553-1",
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                {
                    "id": "0060780",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060780"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A4V243-1",
            "uniprot_ac": "A4V243",
            "uniprot_id": "A4V243_DROME",
            "refseq_ac": "NP_001007096",
            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Guanylate cyclase",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
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                },
                {
                    "name": "CG42637-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG42637",
                    "type": "recommended"
                },
                {
                    "name": "CG42637",
                    "type": "synonym"
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                {
                    "name": "Dmel\\CG42637",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42637",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060780",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060780"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7JQ32-1",
            "uniprot_ac": "Q7JQ32",
            "uniprot_id": "GC76C_DROME",
            "refseq_ac": "NP_001163473",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor-type guanylate cyclase Gyc76C",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG42636-PA",
                    "type": "synonym"
                },
                {
                    "name": "DrGC-1",
                    "type": "synonym"
                },
                {
                    "name": "Gyc76C-PA",
                    "type": "synonym"
                },
                {
                    "name": "gimli",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase at 76C, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "l(3)76BDl",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) L0090",
                    "type": "synonym"
                },
                {
                    "name": "receptor-type guanylate cyclase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gyc76C",
                    "type": "recommended"
                },
                {
                    "name": "CG32215",
                    "type": "synonym"
                },
                {
                    "name": "CG42636",
                    "type": "synonym"
                },
                {
                    "name": "CG8742",
                    "type": "synonym"
                },
                {
                    "name": "DGC1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42636",
                    "type": "synonym"
                },
                {
                    "name": "DrGC-1",
                    "type": "synonym"
                },
                {
                    "name": "GYC 76C",
                    "type": "synonym"
                },
                {
                    "name": "Gyc76C",
                    "type": "synonym"
                },
                {
                    "name": "drgc",
                    "type": "synonym"
                },
                {
                    "name": "gim",
                    "type": "synonym"
                },
                {
                    "name": "gyc76C",
                    "type": "synonym"
                },
                {
                    "name": "l(3)76BDl",
                    "type": "synonym"
                },
                {
                    "name": "l(3)L0090",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7JQ32-1",
            "evidence": [
                {
                    "id": "0060780",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060780"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00746-1",
            "uniprot_ac": "P00746",
            "uniprot_id": "CFAD_HUMAN",
            "refseq_ac": "NP_001304264",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement factor D",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.46",
                    "type": "synonym"
                },
                {
                    "name": "Adipsin",
                    "type": "synonym"
                },
                {
                    "name": "C3 convertase activator",
                    "type": "synonym"
                },
                {
                    "name": "D component of complement (adipsin)",
                    "type": "synonym"
                },
                {
                    "name": "Properdin factor D",
                    "type": "synonym"
                },
                {
                    "name": "complement factor D isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement factor D preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "properdin factor D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFD",
                    "type": "recommended"
                },
                {
                    "name": "ADIPSIN",
                    "type": "synonym"
                },
                {
                    "name": "ADN",
                    "type": "synonym"
                },
                {
                    "name": "CFD",
                    "type": "synonym"
                },
                {
                    "name": "DF",
                    "type": "synonym"
                },
                {
                    "name": "PFD",
                    "type": "synonym"
                }
            ],
            "record_id": "P00746-1",
            "evidence": [
                {
                    "id": "0060780",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060780"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060780"
}