{
    "disease_id": "DOID:0110611",
    "recommended_name": {
        "id": "DOID:0110611",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110611",
        "name": "primary ciliary dyskinesia 27",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110611",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110611",
            "name": "CILD27",
            "description": ""
        },
        {
            "id": "DOID:0110611",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110611",
            "name": "primary ciliary dyskinesia 27 without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0014215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014215",
            "name": "primary ciliary dyskinesia 27",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene."
        },
        {
            "id": "MONDO:0014215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014215",
            "name": "CCDC65 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0014215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014215",
            "name": "CILD27",
            "description": ""
        },
        {
            "id": "MONDO:0014215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014215",
            "name": "ciliary dyskinesia, primary, type 27",
            "description": ""
        },
        {
            "id": "MONDO:0014215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014215",
            "name": "primary ciliary dyskinesia caused by mutation in CCDC65",
            "description": ""
        },
        {
            "id": "MONDO:0014215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014215",
            "name": "primary ciliary dyskinesia type 27",
            "description": ""
        },
        {
            "id": "MONDO:0014215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014215",
            "name": "ciliary dyskinesia, primary, 27",
            "description": ""
        },
        {
            "id": "MIM:615504",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615504",
            "name": "Ciliary dyskinesia, primary, 27",
            "description": "Ciliary dyskinesia, primary, 27"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110611"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110611",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110611",
            "categories": []
        },
        {
            "id": "MONDO:0014215",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014215",
            "categories": []
        },
        {
            "id": "MIM:615504",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615504",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DHI2-1",
            "uniprot_ac": "Q6DHI2",
            "uniprot_id": "DRC2_DANRE",
            "refseq_ac": "NP_001002603",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein regulatory complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 65",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 65",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 65",
                    "type": "synonym"
                },
                {
                    "name": "dynein regulatory complex subunit 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "drc2",
                    "type": "recommended"
                },
                {
                    "name": "NYD-SP28",
                    "type": "synonym"
                },
                {
                    "name": "ccdc65",
                    "type": "synonym"
                },
                {
                    "name": "drc2",
                    "type": "synonym"
                },
                {
                    "name": "si:busm1-202l16.3",
                    "type": "synonym"
                },
                {
                    "name": "si:dz202l16.3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92302",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DHI2-1",
            "evidence": [
                {
                    "id": "0110611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VHI7-1",
            "uniprot_ac": "Q8VHI7",
            "uniprot_id": "DRC2_MOUSE",
            "refseq_ac": "NP_705738",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein regulatory complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 65",
                    "type": "synonym"
                },
                {
                    "name": "Testis development protein NYD-SP28",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 65",
                    "type": "synonym"
                },
                {
                    "name": "dynein regulatory complex subunit 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dynein regulatory complex subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "testis development protein NYD-SP28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc65",
                    "type": "recommended"
                },
                {
                    "name": "Drc2",
                    "type": "recommended"
                },
                {
                    "name": "4933417K04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc65",
                    "type": "synonym"
                },
                {
                    "name": "Drc2",
                    "type": "synonym"
                },
                {
                    "name": "NYD-SP28",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VHI7-1",
            "evidence": [
                {
                    "id": "0110611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IXS2-1",
            "uniprot_ac": "Q8IXS2",
            "uniprot_id": "DRC2_HUMAN",
            "refseq_ac": "NP_149115",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein regulatory complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 65",
                    "type": "synonym"
                },
                {
                    "name": "Testis development protein NYD-SP28",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 65",
                    "type": "synonym"
                },
                {
                    "name": "dynein regulatory complex subunit 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "testis development protein NYD-SP28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DRC2",
                    "type": "recommended"
                },
                {
                    "name": "CCDC65",
                    "type": "synonym"
                },
                {
                    "name": "CFAP250",
                    "type": "synonym"
                },
                {
                    "name": "DRC2",
                    "type": "synonym"
                },
                {
                    "name": "FAP250",
                    "type": "synonym"
                },
                {
                    "name": "NYD-SP28",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IXS2-1",
            "evidence": [
                {
                    "id": "615504",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615504"
                },
                {
                    "id": "0110611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIJ8-1",
            "uniprot_ac": "Q5XIJ8",
            "uniprot_id": "DRC2_RAT",
            "refseq_ac": "NP_001014225",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein regulatory complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 65",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 65",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 65",
                    "type": "synonym"
                },
                {
                    "name": "dynein regulatory complex subunit 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Drc2",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc65",
                    "type": "synonym"
                },
                {
                    "name": "Drc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XIJ8-1",
            "evidence": [
                {
                    "id": "0110611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W212-1",
            "uniprot_ac": "Q9W212",
            "uniprot_id": "Q9W212_DROME",
            "refseq_ac": "NP_611708",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein regulatory complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "CG30259-PA",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil domain-containing protein 65",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG13522",
                    "type": "recommended"
                },
                {
                    "name": "CG13522",
                    "type": "synonym"
                },
                {
                    "name": "CG13523",
                    "type": "synonym"
                },
                {
                    "name": "CG30259",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30259",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG30259",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W212-1",
            "evidence": [
                {
                    "id": "0110611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VP67-1",
            "uniprot_ac": "Q9VP67",
            "uniprot_id": "Q9VP67_DROME",
            "refseq_ac": "NP_649291",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein regulatory complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "CG10510-PA",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil domain-containing protein 65",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG10510",
                    "type": "recommended"
                },
                {
                    "name": "CG10510",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10510",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10510",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VP67-1",
            "evidence": [
                {
                    "id": "0110611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110611"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110611"
}