{
    "disease_id": "DOID:0110623",
    "recommended_name": {
        "id": "DOID:0110623",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110623",
        "name": "primary ciliary dyskinesia 15",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "DOID:0110623",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110623",
            "name": "primary ciliary dyskinesia 15 with or without situs inversus",
            "description": ""
        },
        {
            "id": "DOID:0110623",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110623",
            "name": "CILD15",
            "description": ""
        },
        {
            "id": "MONDO:0013435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013435",
            "name": "primary ciliary dyskinesia 15",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene."
        },
        {
            "id": "MONDO:0013435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013435",
            "name": "CCDC40 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0013435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013435",
            "name": "CILD15",
            "description": ""
        },
        {
            "id": "MONDO:0013435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013435",
            "name": "ciliary dyskinesia, primary, type 15",
            "description": ""
        },
        {
            "id": "MONDO:0013435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013435",
            "name": "primary ciliary dyskinesia 15",
            "description": ""
        },
        {
            "id": "MONDO:0013435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013435",
            "name": "primary ciliary dyskinesia caused by mutation in CCDC40",
            "description": ""
        },
        {
            "id": "MONDO:0013435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013435",
            "name": "primary ciliary dyskinesia type 15",
            "description": ""
        },
        {
            "id": "MONDO:0013435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013435",
            "name": "ciliary dyskinesia, primary, 15",
            "description": ""
        },
        {
            "id": "MIM:613808",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613808",
            "name": "Ciliary dyskinesia, primary, 15",
            "description": "Ciliary dyskinesia, primary, 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110623"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110623",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110623",
            "categories": []
        },
        {
            "id": "MONDO:0013435",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013435",
            "categories": []
        },
        {
            "id": "MIM:613808",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613808",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q56A40-1",
            "uniprot_ac": "Q56A40",
            "uniprot_id": "CCD40_DANRE",
            "refseq_ac": "NP_001258742",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 40",
                    "type": "recommended"
                },
                {
                    "name": "Protein locke",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 40",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 40",
                    "type": "synonym"
                },
                {
                    "name": "protein locke",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ccdc40",
                    "type": "recommended"
                },
                {
                    "name": "ccdc40",
                    "type": "synonym"
                },
                {
                    "name": "im:7149866",
                    "type": "synonym"
                },
                {
                    "name": "lok",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-237i9.5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb11d02",
                    "type": "synonym"
                }
            ],
            "record_id": "Q56A40-1",
            "evidence": [
                {
                    "id": "0110623",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110623"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BI79-1",
            "uniprot_ac": "Q8BI79",
            "uniprot_id": "CCD40_MOUSE",
            "refseq_ac": "NP_001395322",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 40",
                    "type": "recommended"
                },
                {
                    "name": "Protein links",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 40 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 40",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc40",
                    "type": "recommended"
                },
                {
                    "name": "B930008I02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc40",
                    "type": "synonym"
                },
                {
                    "name": "Lnks",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BI79-1",
            "evidence": [
                {
                    "id": "0110623",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110623"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4G0X9-1",
            "uniprot_ac": "Q4G0X9",
            "uniprot_id": "CCD40_HUMAN",
            "refseq_ac": "NP_001230271",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 40",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil domain containing 40",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 40 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 40",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCDC40",
                    "type": "recommended"
                },
                {
                    "name": "CCDC40",
                    "type": "synonym"
                },
                {
                    "name": "CFAP172",
                    "type": "synonym"
                },
                {
                    "name": "CILD15",
                    "type": "synonym"
                },
                {
                    "name": "FAP172",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1640",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4G0X9-1",
            "evidence": [
                {
                    "id": "613808",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613808"
                },
                {
                    "id": "0110623",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110623"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ANF0-1",
            "uniprot_ac": "A0A8I6ANF0",
            "uniprot_id": "A0A8I6ANF0_RAT",
            "refseq_ac": "XP_038941614",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain 40 molecular ruler complex subunit",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 40 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc40",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc40",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6ANF0-1",
            "evidence": [
                {
                    "id": "0110623",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110623"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B7P7M6-1",
            "uniprot_ac": "A0A0B7P7M6",
            "uniprot_id": "A0A0B7P7M6_DROME",
            "refseq_ac": "NP_001104357",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG41265-PA",
                    "type": "synonym"
                },
                {
                    "name": "Lethal (2) 41Ab, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "l(2)41Ab-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 41Ab, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "l(2)41Ab",
                    "type": "recommended"
                },
                {
                    "name": "1(2R)B",
                    "type": "synonym"
                },
                {
                    "name": "41Ab",
                    "type": "synonym"
                },
                {
                    "name": "CG40214",
                    "type": "synonym"
                },
                {
                    "name": "CG40334",
                    "type": "synonym"
                },
                {
                    "name": "CG41265",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG41265",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG41265",
                    "type": "synonym"
                },
                {
                    "name": "GroupI",
                    "type": "synonym"
                },
                {
                    "name": "l(2)41Ab",
                    "type": "synonym"
                },
                {
                    "name": "l(2)EMS45-10",
                    "type": "synonym"
                },
                {
                    "name": "l(2R)B",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B7P7M6-1",
            "evidence": [
                {
                    "id": "0110623",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110623"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110623"
}