{
    "disease_id": "DOID:0110612",
    "recommended_name": {
        "id": "DOID:0110612",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110612",
        "name": "primary ciliary dyskinesia 10",
        "description": "A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110612",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110612",
            "name": "CILD10",
            "description": ""
        },
        {
            "id": "DOID:0110612",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110612",
            "name": "primary ciliary dyskinesia 10 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0012918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012918",
            "name": "primary ciliary dyskinesia 10",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene."
        },
        {
            "id": "MONDO:0012918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012918",
            "name": "CILD10",
            "description": ""
        },
        {
            "id": "MONDO:0012918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012918",
            "name": "DNAAF2 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0012918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012918",
            "name": "ciliary dyskinesia, primary, type 10",
            "description": ""
        },
        {
            "id": "MONDO:0012918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012918",
            "name": "primary ciliary dyskinesia caused by mutation in DNAAF2",
            "description": ""
        },
        {
            "id": "MONDO:0012918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012918",
            "name": "primary ciliary dyskinesia type 10",
            "description": ""
        },
        {
            "id": "MONDO:0012918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012918",
            "name": "ciliary dyskinesia, primary, 10",
            "description": ""
        },
        {
            "id": "MIM:612518",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612518",
            "name": "Ciliary dyskinesia, primary, 10",
            "description": "Ciliary dyskinesia, primary, 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110612"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110612",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110612",
            "categories": []
        },
        {
            "id": "MONDO:0012918",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012918",
            "categories": []
        },
        {
            "id": "MIM:612518",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612518",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q499A3-1",
            "uniprot_ac": "Q499A3",
            "uniprot_id": "KTU_DANRE",
            "refseq_ac": "NP_001028272",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kintoun",
                    "type": "recommended"
                },
                {
                    "name": "Dynein assembly factor 2, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein assembly factor 2, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "protein kintoun",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnaaf2",
                    "type": "recommended"
                },
                {
                    "name": "dnaaf2",
                    "type": "synonym"
                },
                {
                    "name": "ktu",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110294",
                    "type": "synonym"
                }
            ],
            "record_id": "Q499A3-1",
            "evidence": [
                {
                    "id": "0110612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110612"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BPI1-1",
            "uniprot_ac": "Q8BPI1",
            "uniprot_id": "KTU_MOUSE",
            "refseq_ac": "NP_081545",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kintoun",
                    "type": "recommended"
                },
                {
                    "name": "Dynein assembly factor 2, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein assembly factor 2, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "protein kintoun",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf2",
                    "type": "recommended"
                },
                {
                    "name": "Dnaaf2",
                    "type": "synonym"
                },
                {
                    "name": "Ktu",
                    "type": "synonym"
                },
                {
                    "name": "TU54",
                    "type": "synonym"
                },
                {
                    "name": "kintoun",
                    "type": "synonym"
                },
                {
                    "name": "mknt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BPI1-1",
            "evidence": [
                {
                    "id": "0110612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110612"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NVR5-1",
            "uniprot_ac": "Q9NVR5",
            "uniprot_id": "KTU_HUMAN",
            "refseq_ac": "NP_001077377",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kintoun",
                    "type": "recommended"
                },
                {
                    "name": "Dynein assembly factor 2, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein assembly factor 2, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "kintoun",
                    "type": "synonym"
                },
                {
                    "name": "protein kintoun isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein kintoun",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAAF2",
                    "type": "recommended"
                },
                {
                    "name": "C14orf104",
                    "type": "synonym"
                },
                {
                    "name": "CILD10",
                    "type": "synonym"
                },
                {
                    "name": "DNAAF2",
                    "type": "synonym"
                },
                {
                    "name": "KTU",
                    "type": "synonym"
                },
                {
                    "name": "PF13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NVR5-1",
            "evidence": [
                {
                    "id": "612518",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612518"
                },
                {
                    "id": "0110612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110612"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FVL7-1",
            "uniprot_ac": "Q5FVL7",
            "uniprot_id": "KTU_RAT",
            "refseq_ac": "NP_001014219",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kintoun",
                    "type": "recommended"
                },
                {
                    "name": "Dynein assembly factor 2, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein assembly factor 2, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "protein kintoun",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf2",
                    "type": "recommended"
                },
                {
                    "name": "DNAAF2",
                    "type": "synonym"
                },
                {
                    "name": "Dnaaf2",
                    "type": "synonym"
                },
                {
                    "name": "KTU",
                    "type": "synonym"
                },
                {
                    "name": "Ktu",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310311",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FVL7-1",
            "evidence": [
                {
                    "id": "0110612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110612"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0E9G3-1",
            "uniprot_ac": "Q0E9G3",
            "uniprot_id": "KTU_DROME",
            "refseq_ac": "NP_610324",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kintoun",
                    "type": "recommended"
                },
                {
                    "name": "CG1553-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dynein assembly factor 2, axonemal homolog",
                    "type": "synonym"
                },
                {
                    "name": "NOP17 like",
                    "type": "synonym"
                },
                {
                    "name": "Nop17 like, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Nop17l-PA",
                    "type": "synonym"
                },
                {
                    "name": "PP1-interacting protein 20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nop17l",
                    "type": "recommended"
                },
                {
                    "name": "CG1553",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1553",
                    "type": "synonym"
                },
                {
                    "name": "Nop17l",
                    "type": "synonym"
                },
                {
                    "name": "Ppi20",
                    "type": "synonym"
                },
                {
                    "name": "nop17l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0E9G3-1",
            "evidence": [
                {
                    "id": "0110612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110612"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110612"
}