{
    "disease_id": "DOID:0051024",
    "recommended_name": {
        "id": "DOID:0051024",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051024",
        "name": "visceral heterotaxy 10",
        "description": "A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0030474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030474",
            "name": "heterotaxy, visceral, 10, autosomal, with male infertility",
            "description": ""
        },
        {
            "id": "MONDO:0030474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030474",
            "name": "HTX10",
            "description": ""
        },
        {
            "id": "MIM:619607",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619607",
            "name": "Heterotaxy, visceral, 10, autosomal, with male infertility",
            "description": "Heterotaxy, visceral, 10, autosomal, with male infertility"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051024"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051024",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051024",
            "categories": []
        },
        {
            "id": "MONDO:0030474",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030474",
            "categories": []
        },
        {
            "id": "MIM:619607",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619607",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5F201-1",
            "uniprot_ac": "Q5F201",
            "uniprot_id": "CFA52_MOUSE",
            "refseq_ac": "NP_082239",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 52",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 16",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 16",
                    "type": "synonym"
                },
                {
                    "name": "WD40-repear protein upregulated in HCC",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 52",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap52",
                    "type": "recommended"
                },
                {
                    "name": "1700019F09Rik",
                    "type": "synonym"
                },
                {
                    "name": "4933417B11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cfap52",
                    "type": "synonym"
                },
                {
                    "name": "WDRPUH",
                    "type": "synonym"
                },
                {
                    "name": "Wdr16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5F201-1",
            "evidence": [
                {
                    "id": "0051024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N1V2-1",
            "uniprot_ac": "Q8N1V2",
            "uniprot_id": "CFA52_HUMAN",
            "refseq_ac": "NP_001074025",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 52",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 16",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 16",
                    "type": "synonym"
                },
                {
                    "name": "WD40-repeat protein up-regulated in HCC",
                    "type": "synonym"
                },
                {
                    "name": "WD40-repeat protein upregulated in HCC",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 52 isoform c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP52",
                    "type": "recommended"
                },
                {
                    "name": "CFAP52",
                    "type": "synonym"
                },
                {
                    "name": "HTX10",
                    "type": "synonym"
                },
                {
                    "name": "WDR16",
                    "type": "synonym"
                },
                {
                    "name": "WDRPUH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N1V2-1",
            "evidence": [
                {
                    "id": "619607",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619607"
                },
                {
                    "id": "0051024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VS00-1",
            "uniprot_ac": "Q9VS00",
            "uniprot_id": "Q9VS00_DROME",
            "refseq_ac": "NP_648065",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 52",
                    "type": "recommended"
                },
                {
                    "name": "CG10064-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG10064",
                    "type": "recommended"
                },
                {
                    "name": "CG10064",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10064",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10064",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VS00-1",
            "evidence": [
                {
                    "id": "0051024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051024"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051024"
}