{
    "disease_id": "DOID:0060781",
    "recommended_name": {
        "id": "DOID:0060781",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060781",
        "name": "congenital secretory sodium diarrhea 3",
        "description": "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060781",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060781",
            "name": "congenital secretory sodium diarrhea 3 syndromic",
            "description": ""
        },
        {
            "id": "DOID:0060781",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060781",
            "name": "congenital secretory sodium diarrhoea 3",
            "description": ""
        },
        {
            "id": "DOID:0060781",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060781",
            "name": "congenital secretory sodium diarrhoea 3 syndromic",
            "description": ""
        },
        {
            "id": "DOID:0060781",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060781",
            "name": "congenital secretory sodium diarrhoea 3 with or without other congenital anomalies",
            "description": ""
        },
        {
            "id": "DOID:0060781",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060781",
            "name": "congenital secretory sodium diarrhea 3 with or without other congenital anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0010036",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010036",
            "name": "congenital secretory sodium diarrhea 3",
            "description": "Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene."
        },
        {
            "id": "MONDO:0010036",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010036",
            "name": "SPINT2 secretory diarrhea",
            "description": ""
        },
        {
            "id": "MONDO:0010036",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010036",
            "name": "SPINT2 secretory diarrhoea",
            "description": ""
        },
        {
            "id": "MONDO:0010036",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010036",
            "name": "congenital secretory sodium diarrhea type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010036",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010036",
            "name": "congenital secretory sodium diarrhoea type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010036",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010036",
            "name": "secretory diarrhea caused by mutation in SPINT2",
            "description": ""
        },
        {
            "id": "MONDO:0010036",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010036",
            "name": "secretory diarrhoea caused by mutation in SPINT2",
            "description": ""
        },
        {
            "id": "MONDO:0010036",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010036",
            "name": "DIAR3",
            "description": ""
        },
        {
            "id": "MONDO:0010036",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010036",
            "name": "diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0010036",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010036",
            "name": "diarrhoea 3, secretory sodium, congenital, syndromic",
            "description": ""
        },
        {
            "id": "MONDO:0010036",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010036",
            "name": "diarrhoea 3, secretory sodium, congenital, with or without other congenital anomalies",
            "description": ""
        },
        {
            "id": "MIM:270420",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/270420",
            "name": "Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies",
            "description": "Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060781"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060781",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060781",
            "categories": []
        },
        {
            "id": "MONDO:0010036",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010036",
            "categories": []
        },
        {
            "id": "MIM:270420",
            "database": "MIM",
            "url": "https://www.omim.org/entry/270420",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QEV7-1",
            "uniprot_ac": "F1QEV7",
            "uniprot_id": "F1QEV7_DANRE",
            "refseq_ac": "NP_001070718",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kunitz-type protease inhibitor 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "kunitz-type protease inhibitor 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spint2",
                    "type": "recommended"
                },
                {
                    "name": "fb52h04",
                    "type": "synonym"
                },
                {
                    "name": "fe24a06",
                    "type": "synonym"
                },
                {
                    "name": "spint2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb52h04",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe24a06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153795",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QEV7-1",
            "evidence": [
                {
                    "id": "0060781",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060781"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WU03-1",
            "uniprot_ac": "Q9WU03",
            "uniprot_id": "SPIT2_MOUSE",
            "refseq_ac": "NP_001076017",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kunitz-type protease inhibitor 2",
                    "type": "recommended"
                },
                {
                    "name": "HAI-2",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte growth factor activator inhibitor type 2",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte growth factor activator inhibitor type 2",
                    "type": "synonym"
                },
                {
                    "name": "kunitz-type protease inhibitor 2 isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "kunitz-type protease inhibitor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spint2",
                    "type": "recommended"
                },
                {
                    "name": "HAI-2",
                    "type": "synonym"
                },
                {
                    "name": "Hai2",
                    "type": "synonym"
                },
                {
                    "name": "Spint2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WU03-1",
            "evidence": [
                {
                    "id": "0060781",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060781"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43291-1",
            "uniprot_ac": "O43291",
            "uniprot_id": "SPIT2_HUMAN",
            "refseq_ac": "NP_001159575",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kunitz-type protease inhibitor 2",
                    "type": "recommended"
                },
                {
                    "name": "HAI-2",
                    "type": "synonym"
                },
                {
                    "name": "HGF activator inhibitor 2",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte growth factor activator inhibitor type 2",
                    "type": "synonym"
                },
                {
                    "name": "Kunitz domain containing protein overexpressed in pancreatic cancer",
                    "type": "synonym"
                },
                {
                    "name": "Placental bikunin",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte growth factor activator inhibitor type 2",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte growth factor activator inhibitor-2",
                    "type": "synonym"
                },
                {
                    "name": "kunitz-type protease inhibitor 2 isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "kunitz-type protease inhibitor 2",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor, Kunitz type, 2",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 183",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPINT2",
                    "type": "recommended"
                },
                {
                    "name": "DIAR3",
                    "type": "synonym"
                },
                {
                    "name": "HAI-2",
                    "type": "synonym"
                },
                {
                    "name": "HAI2",
                    "type": "synonym"
                },
                {
                    "name": "KOP",
                    "type": "synonym"
                },
                {
                    "name": "Kop",
                    "type": "synonym"
                },
                {
                    "name": "PB",
                    "type": "synonym"
                },
                {
                    "name": "SPINT2",
                    "type": "synonym"
                }
            ],
            "record_id": "O43291-1",
            "evidence": [
                {
                    "id": "270420",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/270420"
                },
                {
                    "id": "0060781",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060781"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F6QKA3-1",
            "uniprot_ac": "F6QKA3",
            "uniprot_id": "F6QKA3_RAT",
            "refseq_ac": "NP_001076018",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kunitz-type protease inhibitor 2",
                    "type": "recommended"
                },
                {
                    "name": "Hepatocyte growth factor activator inhibitor type 2",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte growth factor activator inhibitor type 2",
                    "type": "synonym"
                },
                {
                    "name": "kunitz-type protease inhibitor 2 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "kunitz-type protease inhibitor 2",
                    "type": "synonym"
                },
                {
                    "name": "placental bikunin",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor, Kunitz type 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spint2",
                    "type": "recommended"
                },
                {
                    "name": "HAI-2",
                    "type": "synonym"
                },
                {
                    "name": "Pb",
                    "type": "synonym"
                },
                {
                    "name": "Spint2",
                    "type": "synonym"
                }
            ],
            "record_id": "F6QKA3-1",
            "evidence": [
                {
                    "id": "0060781",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060781"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z7L2-1",
            "uniprot_ac": "A1Z7L2",
            "uniprot_id": "A1Z7L2_DROME",
            "refseq_ac": "NP_610430",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "BPTI/Kunitz inhibitor domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG13748-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG13748",
                    "type": "recommended"
                },
                {
                    "name": "CG13748",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13748",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13748",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z7L2-1",
            "evidence": [
                {
                    "id": "0060781",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060781"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060781"
}