{
    "disease_id": "DOID:0051025",
    "recommended_name": {
        "id": "DOID:0051025",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051025",
        "name": "visceral heterotaxy 11",
        "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 or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0030475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030475",
            "name": "heterotaxy, visceral, 11, autosomal, with male infertility",
            "description": ""
        },
        {
            "id": "MONDO:0030475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030475",
            "name": "HTX11",
            "description": ""
        },
        {
            "id": "MIM:619608",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619608",
            "name": "Heterotaxy, visceral, 11, autosomal, with male infertility",
            "description": "Heterotaxy, visceral, 11, autosomal, with male infertility"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051025"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051025",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051025",
            "categories": []
        },
        {
            "id": "MONDO:0030475",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030475",
            "categories": []
        },
        {
            "id": "MIM:619608",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619608",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NCB7-1",
            "uniprot_ac": "A0A8M1NCB7",
            "uniprot_id": "A0A8M1NCB7_DANRE",
            "refseq_ac": "NP_001076465",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 45",
                    "type": "recommended"
                },
                {
                    "name": "cilia- and flagella-associated protein 45",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cfap45",
                    "type": "recommended"
                },
                {
                    "name": "ccdc19",
                    "type": "synonym"
                },
                {
                    "name": "cfap45",
                    "type": "synonym"
                },
                {
                    "name": "fc64b08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc64b08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158569",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NCB7-1",
            "evidence": [
                {
                    "id": "0051025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D9U9-1",
            "uniprot_ac": "Q9D9U9",
            "uniprot_id": "CFA45_MOUSE",
            "refseq_ac": "NP_082248",
            "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 45",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 19",
                    "type": "synonym"
                },
                {
                    "name": "Nasopharyngeal epithelium-specific protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 45",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 19",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 19",
                    "type": "synonym"
                },
                {
                    "name": "nasopharyngeal epithelium specific protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap45",
                    "type": "recommended"
                },
                {
                    "name": "1700028D05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc19",
                    "type": "synonym"
                },
                {
                    "name": "Cfap45",
                    "type": "synonym"
                },
                {
                    "name": "Nesg1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D9U9-1",
            "evidence": [
                {
                    "id": "0051025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UL16-1",
            "uniprot_ac": "Q9UL16",
            "uniprot_id": "CFA45_HUMAN",
            "refseq_ac": "NP_036469",
            "glycoprotein": "yes",
            "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 45",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 19",
                    "type": "synonym"
                },
                {
                    "name": "Nasopharyngeal epithelium-specific protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 45",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 19",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 19, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "nasopharyngeal epithelium specific protein 1 (NESG1)",
                    "type": "synonym"
                },
                {
                    "name": "nasopharyngeal epithelium-specific protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein CFAP45, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP45",
                    "type": "recommended"
                },
                {
                    "name": "CCDC19",
                    "type": "synonym"
                },
                {
                    "name": "CFAP45",
                    "type": "synonym"
                },
                {
                    "name": "HTX11",
                    "type": "synonym"
                },
                {
                    "name": "NESG1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UL16-1",
            "evidence": [
                {
                    "id": "619608",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619608"
                },
                {
                    "id": "0051025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A2Y4-1",
            "uniprot_ac": "A0A8I6A2Y4",
            "uniprot_id": "A0A8I6A2Y4_RAT",
            "refseq_ac": "NP_001020053",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 45",
                    "type": "recommended"
                },
                {
                    "name": "cilia- and flagella-associated protein 45",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 19",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 19, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap45",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc19",
                    "type": "synonym"
                },
                {
                    "name": "Cfap45",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A2Y4-1",
            "evidence": [
                {
                    "id": "0051025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNU3-1",
            "uniprot_ac": "Q9VNU3",
            "uniprot_id": "Q9VNU3_DROME",
            "refseq_ac": "NP_649390",
            "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 45",
                    "type": "recommended"
                },
                {
                    "name": "CG11449-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG11449",
                    "type": "recommended"
                },
                {
                    "name": "CG11449",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11449",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11449",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VNU3-1",
            "evidence": [
                {
                    "id": "0051025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051025"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051025"
}