{
    "disease_id": "DOID:0051020",
    "recommended_name": {
        "id": "DOID:0051020",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051020",
        "name": "visceral heterotaxy 6",
        "description": "A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0013887",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013887",
            "name": "heterotaxy, visceral, 6, autosomal",
            "description": ""
        },
        {
            "id": "MONDO:0013887",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013887",
            "name": "heterotaxy, visceral, 6, autosomal",
            "description": ""
        },
        {
            "id": "MONDO:0013887",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013887",
            "name": "heterotaxy, visceral, 6, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013887",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013887",
            "name": "HTX6",
            "description": ""
        },
        {
            "id": "MIM:614779",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614779",
            "name": "Heterotaxy, visceral, 6, autosomal",
            "description": "Heterotaxy, visceral, 6, autosomal"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051020"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051020",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051020",
            "categories": []
        },
        {
            "id": "MONDO:0013887",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013887",
            "categories": []
        },
        {
            "id": "MIM:614779",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614779",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IFG5-1",
            "uniprot_ac": "A0A0R4IFG5",
            "uniprot_id": "CFA53_DANRE",
            "refseq_ac": "NP_001038595",
            "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 53",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 11",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 53",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 11",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cfap53",
                    "type": "recommended"
                },
                {
                    "name": "ccdc11",
                    "type": "synonym"
                },
                {
                    "name": "cfap53",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-257i19.2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153145",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IFG5-1",
            "evidence": [
                {
                    "id": "0051020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D439-1",
            "uniprot_ac": "Q9D439",
            "uniprot_id": "CFA53_MOUSE",
            "refseq_ac": "NP_083224",
            "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 53",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 11",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 53",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 11",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap53",
                    "type": "recommended"
                },
                {
                    "name": "4933415I03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc11",
                    "type": "synonym"
                },
                {
                    "name": "Cfap53",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D439-1",
            "evidence": [
                {
                    "id": "0051020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96M91-1",
            "uniprot_ac": "Q96M91",
            "uniprot_id": "CFA53_HUMAN",
            "refseq_ac": "NP_659457",
            "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 53",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 11",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 53",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP53",
                    "type": "recommended"
                },
                {
                    "name": "CCDC11",
                    "type": "synonym"
                },
                {
                    "name": "CFAP53",
                    "type": "synonym"
                },
                {
                    "name": "HTX6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96M91-1",
            "evidence": [
                {
                    "id": "614779",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614779"
                },
                {
                    "id": "0051020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M6S6-1",
            "uniprot_ac": "F1M6S6",
            "uniprot_id": "F1M6S6_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": "Methyl-CpG-binding domain protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Methyl-CpG-binding protein MBD1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap53",
                    "type": "recommended"
                },
                {
                    "name": "Mbd1",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc11",
                    "type": "synonym"
                },
                {
                    "name": "Mbd1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M6S6-1",
            "evidence": [
                {
                    "id": "0051020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051020"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051020"
}