{
    "disease_id": "DOID:0110627",
    "recommended_name": {
        "id": "DOID:0110627",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110627",
        "name": "primary ciliary dyskinesia 26",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110627",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110627",
            "name": "CILD26",
            "description": ""
        },
        {
            "id": "DOID:0110627",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110627",
            "name": "primary ciliary dyskinesia 26 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0014211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014211",
            "name": "primary ciliary dyskinesia 26",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene."
        },
        {
            "id": "MONDO:0014211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014211",
            "name": "CFAP298 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0014211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014211",
            "name": "CILD26",
            "description": ""
        },
        {
            "id": "MONDO:0014211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014211",
            "name": "ciliary dyskinesia, primary, type 26",
            "description": ""
        },
        {
            "id": "MONDO:0014211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014211",
            "name": "primary ciliary dyskinesia caused by mutation in CFAP298",
            "description": ""
        },
        {
            "id": "MONDO:0014211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014211",
            "name": "primary ciliary dyskinesia type 26",
            "description": ""
        },
        {
            "id": "MONDO:0014211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014211",
            "name": "ciliary dyskinesia, primary, 26",
            "description": ""
        },
        {
            "id": "MIM:615500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615500",
            "name": "Ciliary dyskinesia, primary, 26",
            "description": "Ciliary dyskinesia, primary, 26"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110627"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110627",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110627",
            "categories": []
        },
        {
            "id": "MONDO:0014211",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014211",
            "categories": []
        },
        {
            "id": "MIM:615500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DRC3-1",
            "uniprot_ac": "Q6DRC3",
            "uniprot_id": "CF298_DANRE",
            "refseq_ac": "NP_956382",
            "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 298",
                    "type": "recommended"
                },
                {
                    "name": "Kurly",
                    "type": "synonym"
                },
                {
                    "name": "Protein kurly",
                    "type": "synonym"
                },
                {
                    "name": "UPF0769 protein C21orf59 homolog",
                    "type": "synonym"
                },
                {
                    "name": "c10h21orf59 homolog",
                    "type": "synonym"
                },
                {
                    "name": "c21orf59 homolog, like",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 298",
                    "type": "synonym"
                },
                {
                    "name": "protein kurly",
                    "type": "synonym"
                },
                {
                    "name": "unm tj271",
                    "type": "synonym"
                },
                {
                    "name": "unm tm304",
                    "type": "synonym"
                },
                {
                    "name": "unm_tj271",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cfap298",
                    "type": "recommended"
                },
                {
                    "name": "c10h21orf59",
                    "type": "synonym"
                },
                {
                    "name": "c21orf59l",
                    "type": "synonym"
                },
                {
                    "name": "c21orf59",
                    "type": "synonym"
                },
                {
                    "name": "cfap298",
                    "type": "synonym"
                },
                {
                    "name": "grb",
                    "type": "synonym"
                },
                {
                    "name": "kur",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb615",
                    "type": "synonym"
                },
                {
                    "name": "zgc:64057",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DRC3-1",
            "evidence": [
                {
                    "id": "0110627",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110627"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BL95-1",
            "uniprot_ac": "Q8BL95",
            "uniprot_id": "CF298_MOUSE",
            "refseq_ac": "NP_080778",
            "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 298",
                    "type": "recommended"
                },
                {
                    "name": "Protein kurly homolog",
                    "type": "synonym"
                },
                {
                    "name": "UPF0769 protein C21orf59 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 298",
                    "type": "synonym"
                },
                {
                    "name": "protein kurly homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap298",
                    "type": "recommended"
                },
                {
                    "name": "1110004E09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cfap298",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BL95-1",
            "evidence": [
                {
                    "id": "0110627",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110627"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P57076-1",
            "uniprot_ac": "P57076",
            "uniprot_id": "CF298_HUMAN",
            "refseq_ac": "NP_067077",
            "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 298",
                    "type": "recommended"
                },
                {
                    "name": "Protein kurly homolog",
                    "type": "synonym"
                },
                {
                    "name": "UPF0769 protein C21orf59",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 298 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 16",
                    "type": "synonym"
                },
                {
                    "name": "kurly homolog",
                    "type": "synonym"
                },
                {
                    "name": "prostate cancer upregulated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kurly homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP298",
                    "type": "recommended"
                },
                {
                    "name": "C21orf48",
                    "type": "synonym"
                },
                {
                    "name": "C21orf59",
                    "type": "synonym"
                },
                {
                    "name": "CFAP298",
                    "type": "synonym"
                },
                {
                    "name": "CILD26",
                    "type": "synonym"
                },
                {
                    "name": "DNAAF16",
                    "type": "synonym"
                },
                {
                    "name": "FBB18",
                    "type": "synonym"
                },
                {
                    "name": "Kur",
                    "type": "synonym"
                }
            ],
            "record_id": "P57076-1",
            "evidence": [
                {
                    "id": "615500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615500"
                },
                {
                    "id": "0110627",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110627"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U3Z0-1",
            "uniprot_ac": "Q5U3Z0",
            "uniprot_id": "CF298_RAT",
            "refseq_ac": "NP_001008289",
            "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 298",
                    "type": "recommended"
                },
                {
                    "name": "Protein kurly homolog",
                    "type": "synonym"
                },
                {
                    "name": "UPF0769 protein C21orf59 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 298",
                    "type": "synonym"
                },
                {
                    "name": "protein kurly homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap298",
                    "type": "recommended"
                },
                {
                    "name": "Cfap298",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306954",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U3Z0-1",
            "evidence": [
                {
                    "id": "0110627",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110627"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZH1-1",
            "uniprot_ac": "Q9VZH1",
            "uniprot_id": "CF298_DROME",
            "refseq_ac": "NP_652334",
            "glycoprotein": "no",
            "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 298",
                    "type": "recommended"
                },
                {
                    "name": "CG18675-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG18675",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18675",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZH1-1",
            "evidence": [
                {
                    "id": "0110627",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110627"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110627"
}