{
    "disease_id": "DOID:0051022",
    "recommended_name": {
        "id": "DOID:0051022",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051022",
        "name": "visceral heterotaxy 8",
        "description": "A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the PKD1L1 gene on chromosome 7p12."
    },
    "synonyms": [
        {
            "id": "MONDO:0014967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014967",
            "name": "heterotaxy, visceral, 8, autosomal",
            "description": "Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene."
        },
        {
            "id": "MONDO:0014967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014967",
            "name": "HTX8",
            "description": ""
        },
        {
            "id": "MONDO:0014967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014967",
            "name": "PKD1L1 visceral heterotaxy",
            "description": ""
        },
        {
            "id": "MONDO:0014967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014967",
            "name": "heterotaxy, visceral, 8, autosomal",
            "description": ""
        },
        {
            "id": "MONDO:0014967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014967",
            "name": "heterotaxy, visceral, 8, autosomal; HTX8",
            "description": ""
        },
        {
            "id": "MONDO:0014967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014967",
            "name": "visceral heterotaxy caused by mutation in PKD1L1",
            "description": ""
        },
        {
            "id": "MIM:617205",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617205",
            "name": "Heterotaxy, visceral, 8, autosomal",
            "description": "Heterotaxy, visceral, 8, autosomal"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051022"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051022",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051022",
            "categories": []
        },
        {
            "id": "MONDO:0014967",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014967",
            "categories": []
        },
        {
            "id": "MIM:617205",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617205",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8R526-1",
            "uniprot_ac": "Q8R526",
            "uniprot_id": "PK1L1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polycystin-1-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "PC1-like 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Polycystic kidney disease protein 1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Polycystin-1L1",
                    "type": "synonym"
                },
                {
                    "name": "Protein rikishi",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pkd1l1",
                    "type": "recommended"
                },
                {
                    "name": "Rks",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R526-1",
            "evidence": [
                {
                    "id": "0051022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TDX9-1",
            "uniprot_ac": "Q8TDX9",
            "uniprot_id": "PK1L1_HUMAN",
            "refseq_ac": "NP_612152",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polycystin-1-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "PC1-like 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Polycystic kidney disease protein 1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Polycystin-1L1",
                    "type": "synonym"
                },
                {
                    "name": "polycystic kidney disease 1 like 1",
                    "type": "synonym"
                },
                {
                    "name": "polycystic kidney disease protein 1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "polycystin-1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "polycystin-1L1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PKD1L1",
                    "type": "recommended"
                },
                {
                    "name": "HTX8",
                    "type": "synonym"
                },
                {
                    "name": "PC1L1",
                    "type": "synonym"
                },
                {
                    "name": "PKD1L1",
                    "type": "synonym"
                },
                {
                    "name": "PRO19563",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TDX9-1",
            "evidence": [
                {
                    "id": "617205",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617205"
                },
                {
                    "id": "0051022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M1X0-1",
            "uniprot_ac": "F1M1X0",
            "uniprot_id": "F1M1X0_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polycystin-1-like protein 1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Pkd1l1",
                    "type": "recommended"
                }
            ],
            "record_id": "F1M1X0-1",
            "evidence": [
                {
                    "id": "0051022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051022"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051022"
}