{
    "disease_id": "DOID:0061181",
    "recommended_name": {
        "id": "DOID:0061181",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061181",
        "name": "familial hypercholanemia 1",
        "description": "A steroid inherited metabolic disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins that has_material_basis_in homozygous mutation in the TJP2 gene on chromosome 9q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0031446",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031446",
            "name": "hypercholanemia, familial 1",
            "description": "A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent."
        },
        {
            "id": "MONDO:0031446",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031446",
            "name": "hereditary hypercholanemia",
            "description": ""
        },
        {
            "id": "MONDO:0031446",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031446",
            "name": "FHCA1",
            "description": ""
        },
        {
            "id": "MIM:607748",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607748",
            "name": "Hypercholanemia, familial, 1",
            "description": "Hypercholanemia, familial, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061181"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061181",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061181",
            "categories": []
        },
        {
            "id": "MONDO:0031446",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031446",
            "categories": []
        },
        {
            "id": "MIM:607748",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607748",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32U188-1",
            "uniprot_ac": "A0AB32U188",
            "uniprot_id": "A0AB32U188_DANRE",
            "refseq_ac": "XP_068079018",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tight junction protein ZO-2b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "tight junction protein ZO-2b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tjp2b",
                    "type": "recommended"
                },
                {
                    "name": "fb62b09",
                    "type": "synonym"
                },
                {
                    "name": "tjp2b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb62b09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92094",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32U188-1",
            "evidence": [
                {
                    "id": "0061181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3B637-1",
            "uniprot_ac": "A0A8M3B637",
            "uniprot_id": "A0A8M3B637_DANRE",
            "refseq_ac": "XP_009303467",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tight junction protein ZO-2a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "tight junction protein ZO-2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tjp2a",
                    "type": "recommended"
                },
                {
                    "name": "tjp2.1",
                    "type": "synonym"
                },
                {
                    "name": "tjp2a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb10a11",
                    "type": "synonym"
                },
                {
                    "name": "zo-2.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B637-1",
            "evidence": [
                {
                    "id": "0061181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0U1-1",
            "uniprot_ac": "Q9Z0U1",
            "uniprot_id": "ZO2_MOUSE",
            "refseq_ac": "NP_035727",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tight junction protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Tight junction protein ZO-2 (Zonula occludens 2 protein) (Zona occludens 2 protein) (Tight junction protein 2)",
                    "type": "synonym"
                },
                {
                    "name": "Tight junction protein ZO-2",
                    "type": "synonym"
                },
                {
                    "name": "Zona occludens protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Zonula occludens protein 2",
                    "type": "synonym"
                },
                {
                    "name": "tight junction protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "zona occludens protein 2",
                    "type": "synonym"
                },
                {
                    "name": "zonula occludens protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tjp2",
                    "type": "recommended"
                },
                {
                    "name": "Tjp2",
                    "type": "synonym"
                },
                {
                    "name": "ZO-2",
                    "type": "synonym"
                },
                {
                    "name": "Zo2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0U1-1",
            "evidence": [
                {
                    "id": "0061181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UDY2-1",
            "uniprot_ac": "Q9UDY2",
            "uniprot_id": "ZO2_HUMAN",
            "refseq_ac": "NP_001163886",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tight junction protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Friedreich ataxia region gene X104 (tight junction protein ZO-2)",
                    "type": "synonym"
                },
                {
                    "name": "Tight junction protein ZO-2",
                    "type": "synonym"
                },
                {
                    "name": "Zona occludens protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Zonula occludens protein 2",
                    "type": "synonym"
                },
                {
                    "name": "tight junction protein 2 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "zona occludens 2",
                    "type": "synonym"
                },
                {
                    "name": "zonula occludens protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TJP2",
                    "type": "recommended"
                },
                {
                    "name": "C9DUPq21.11",
                    "type": "synonym"
                },
                {
                    "name": "DFNA51",
                    "type": "synonym"
                },
                {
                    "name": "DUP9q21.11",
                    "type": "synonym"
                },
                {
                    "name": "FHCA1",
                    "type": "synonym"
                },
                {
                    "name": "PFIC4",
                    "type": "synonym"
                },
                {
                    "name": "TJP2",
                    "type": "synonym"
                },
                {
                    "name": "X104",
                    "type": "synonym"
                },
                {
                    "name": "ZO2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UDY2-1",
            "evidence": [
                {
                    "id": "607748",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607748"
                },
                {
                    "id": "0061181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LFN1-1",
            "uniprot_ac": "A0ABK0LFN1",
            "uniprot_id": "A0ABK0LFN1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tight junction protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Tight junction protein ZO-2",
                    "type": "synonym"
                },
                {
                    "name": "Zona occludens protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Zonula occludens protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tjp2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LFN1-1",
            "evidence": [
                {
                    "id": "0061181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4K6Y7-1",
            "uniprot_ac": "A0A0B4K6Y7",
            "uniprot_id": "A0A0B4K6Y7_DROME",
            "refseq_ac": "NP_001246998",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG43140-PO",
                    "type": "synonym"
                },
                {
                    "name": "Polychaetoid, isoform O",
                    "type": "synonym"
                },
                {
                    "name": "extra verticals",
                    "type": "synonym"
                },
                {
                    "name": "failed fusions",
                    "type": "synonym"
                },
                {
                    "name": "polychaetoid, isoform O",
                    "type": "synonym"
                },
                {
                    "name": "polychaetoid",
                    "type": "synonym"
                },
                {
                    "name": "pyd-PO",
                    "type": "synonym"
                },
                {
                    "name": "tamou",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pyd",
                    "type": "recommended"
                },
                {
                    "name": "CG11782",
                    "type": "synonym"
                },
                {
                    "name": "CG11962",
                    "type": "synonym"
                },
                {
                    "name": "CG12409",
                    "type": "synonym"
                },
                {
                    "name": "CG31349",
                    "type": "synonym"
                },
                {
                    "name": "CG43140",
                    "type": "synonym"
                },
                {
                    "name": "CG9729",
                    "type": "synonym"
                },
                {
                    "name": "CG9731",
                    "type": "synonym"
                },
                {
                    "name": "CG9763",
                    "type": "synonym"
                },
                {
                    "name": "CT36877",
                    "type": "synonym"
                },
                {
                    "name": "DZO-1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43140",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43140",
                    "type": "synonym"
                },
                {
                    "name": "Pch",
                    "type": "synonym"
                },
                {
                    "name": "Pyd/ZO-1",
                    "type": "synonym"
                },
                {
                    "name": "Pyd",
                    "type": "synonym"
                },
                {
                    "name": "Tamou",
                    "type": "synonym"
                },
                {
                    "name": "ZO-1",
                    "type": "synonym"
                },
                {
                    "name": "ZO1",
                    "type": "synonym"
                },
                {
                    "name": "dzo-1",
                    "type": "synonym"
                },
                {
                    "name": "pyd(Z01)",
                    "type": "synonym"
                },
                {
                    "name": "pyd",
                    "type": "synonym"
                },
                {
                    "name": "tam",
                    "type": "synonym"
                },
                {
                    "name": "xvt",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4K6Y7-1",
            "evidence": [
                {
                    "id": "0061181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061181"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061181"
}