{
    "disease_id": "DOID:0061182",
    "recommended_name": {
        "id": "DOID:0061182",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061182",
        "name": "familial hypercholanemia 2",
        "description": "A steroid inherited metabolic disorder characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC10A1 gene on chromosome 14q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0031003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031003",
            "name": "hypercholanemia, familial, 2",
            "description": ""
        },
        {
            "id": "MONDO:0031003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031003",
            "name": "FHCA2",
            "description": ""
        },
        {
            "id": "MONDO:0031003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031003",
            "name": "NTCP Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0031003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031003",
            "name": "hypercholanemia, familial 2",
            "description": ""
        },
        {
            "id": "MIM:619256",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619256",
            "name": "Hypercholanemia, familial, 2",
            "description": "Hypercholanemia, familial, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061182"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061182",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061182",
            "categories": []
        },
        {
            "id": "MONDO:0031003",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031003",
            "categories": []
        },
        {
            "id": "MIM:619256",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619256",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5SPG0-1",
            "uniprot_ac": "Q5SPG0",
            "uniprot_id": "Q5SPG0_DANRE",
            "refseq_ac": "XP_690745",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatic sodium/bile acid cotransporter",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)/bile acid cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/taurocholate transport protein",
                    "type": "synonym"
                },
                {
                    "name": "Sodium/taurocholate cotransporting polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 10 member 1",
                    "type": "synonym"
                },
                {
                    "name": "hepatic sodium/bile acid cotransporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc10a1",
                    "type": "recommended"
                },
                {
                    "name": "slc10a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SPG0-1",
            "evidence": [
                {
                    "id": "0061182",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061182"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08705-1",
            "uniprot_ac": "O08705",
            "uniprot_id": "NTCP_MOUSE",
            "refseq_ac": "NP_035517",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatic sodium/bile acid cotransporter",
                    "type": "recommended"
                },
                {
                    "name": "NTCP",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/bile acid cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/taurocholate transport protein",
                    "type": "synonym"
                },
                {
                    "name": "SLC10A1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium/taurocholate cotransporting polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 10 member 1",
                    "type": "synonym"
                },
                {
                    "name": "hepatic sodium/bile acid cotransporter isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "hepatic sodium/bile acid cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium bile acid cotransporting polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium-taurocholate cotransporting polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc10a1",
                    "type": "recommended"
                },
                {
                    "name": "Ntcp",
                    "type": "synonym"
                },
                {
                    "name": "Slc10a1",
                    "type": "synonym"
                }
            ],
            "record_id": "O08705-1",
            "evidence": [
                {
                    "id": "0061182",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061182"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14973-1",
            "uniprot_ac": "Q14973",
            "uniprot_id": "NTCP_HUMAN",
            "refseq_ac": "NP_003040",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatic sodium/bile acid cotransporter",
                    "type": "recommended"
                },
                {
                    "name": "Cell growth-inhibiting gene 29 protein",
                    "type": "synonym"
                },
                {
                    "name": "NTCP",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/bile acid cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/taurocholate transport protein",
                    "type": "synonym"
                },
                {
                    "name": "Na/taurocholate cotransporting polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "SLC10A1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium/taurocholate cotransporting polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 10 member 1",
                    "type": "synonym"
                },
                {
                    "name": "cell growth-inhibiting gene 29 protein",
                    "type": "synonym"
                },
                {
                    "name": "growth-inhibiting protein 29",
                    "type": "synonym"
                },
                {
                    "name": "hepatic sodium/bile acid cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium/bile acid cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium/taurocholate cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium/taurocholate cotransporting polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 10 (sodium/bile acid cotransporter family), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 10 (sodium/bile acid cotransporter), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC10A1",
                    "type": "recommended"
                },
                {
                    "name": "FHCA2",
                    "type": "synonym"
                },
                {
                    "name": "GIG29",
                    "type": "synonym"
                },
                {
                    "name": "NTCP",
                    "type": "synonym"
                },
                {
                    "name": "SLC10A1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14973-1",
            "evidence": [
                {
                    "id": "619256",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619256"
                },
                {
                    "id": "0061182",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061182"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26435-1",
            "uniprot_ac": "P26435",
            "uniprot_id": "NTCP_RAT",
            "refseq_ac": "NP_058743",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatic sodium/bile acid cotransporter",
                    "type": "recommended"
                },
                {
                    "name": "NA-dependent cholate transporting protein",
                    "type": "synonym"
                },
                {
                    "name": "NTCP",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/bile acid cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/taurocholate transport protein",
                    "type": "synonym"
                },
                {
                    "name": "SLC10A1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium/taurocholate cotransporting polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 10 member 1",
                    "type": "synonym"
                },
                {
                    "name": "hepatic sodium/bile acid cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent bile acid cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent taurocholate cotransporting polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium/bile acid cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium/taurocholate cotransporting polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 10 (sodium/bile acid cotransporter family), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 10 (sodium/bile acid cotransporter), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc10a1",
                    "type": "recommended"
                },
                {
                    "name": "Ntcp1",
                    "type": "synonym"
                },
                {
                    "name": "Ntcp",
                    "type": "synonym"
                },
                {
                    "name": "SBACT",
                    "type": "synonym"
                },
                {
                    "name": "Slc10a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P26435-1",
            "evidence": [
                {
                    "id": "0061182",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061182"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXV4-1",
            "uniprot_ac": "Q9VXV4",
            "uniprot_id": "Q9VXV4_DROME",
            "refseq_ac": "NP_573024",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "P3 protein",
                    "type": "recommended"
                },
                {
                    "name": "CG11655-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG11655",
                    "type": "recommended"
                },
                {
                    "name": "CG11655",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11655",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11655",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXV4-1",
            "evidence": [
                {
                    "id": "0061182",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061182"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11487-1",
            "uniprot_ac": "P11487",
            "uniprot_id": "FGF3_HUMAN",
            "refseq_ac": "NP_005238",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 3",
                    "type": "recommended"
                },
                {
                    "name": "FGF-3",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-3",
                    "type": "synonym"
                },
                {
                    "name": "Heparin-binding growth factor 3",
                    "type": "synonym"
                },
                {
                    "name": "INT-2 proto-oncogene protein",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene Int-2",
                    "type": "synonym"
                },
                {
                    "name": "V-INT2 murine mammary tumor virus integration site oncogene homolog",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "heparin-binding growth factor 3",
                    "type": "synonym"
                },
                {
                    "name": "murine mammary tumor virus integration site 2, mouse",
                    "type": "synonym"
                },
                {
                    "name": "oncogene INT2",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene Int-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGF3",
                    "type": "recommended"
                },
                {
                    "name": "FGF3",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-3",
                    "type": "synonym"
                },
                {
                    "name": "INT2",
                    "type": "synonym"
                }
            ],
            "record_id": "P11487-1",
            "evidence": [
                {
                    "id": "0061182",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061182"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061182"
}