{
    "disease_id": "DOID:0110598",
    "recommended_name": {
        "id": "DOID:0110598",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110598",
        "name": "primary ciliary dyskinesia 14",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26."
    },
    "synonyms": [
        {
            "id": "DOID:0110598",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110598",
            "name": "CILD14",
            "description": ""
        },
        {
            "id": "DOID:0110598",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110598",
            "name": "primary ciliary dyskinesia 14 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "primary ciliary dyskinesia 14",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene."
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "CCDC39 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "CILD14",
            "description": ""
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "ciliary dyskinesia, primary, type 14",
            "description": ""
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "primary ciliary dyskinesia 14",
            "description": ""
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "primary ciliary dyskinesia caused by mutation in CCDC39",
            "description": ""
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "primary ciliary dyskinesia type 14",
            "description": ""
        },
        {
            "id": "MONDO:0013434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "name": "ciliary dyskinesia, primary, 14",
            "description": ""
        },
        {
            "id": "MIM:613807",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613807",
            "name": "Ciliary dyskinesia, primary, 14",
            "description": "Ciliary dyskinesia, primary, 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110598"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110598",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110598",
            "categories": []
        },
        {
            "id": "MONDO:0013434",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013434",
            "categories": []
        },
        {
            "id": "MIM:613807",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613807",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P0CK98-1",
            "uniprot_ac": "P0CK98",
            "uniprot_id": "CCD39_DANRE",
            "refseq_ac": "NP_001410743",
            "glycoprotein": "yes",
            "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 39",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil domain containing 39",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 39",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ccdc39",
                    "type": "recommended"
                },
                {
                    "name": "ccdc39",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CK98-1",
            "evidence": [
                {
                    "id": "0110598",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110598"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D5Y1-1",
            "uniprot_ac": "Q9D5Y1",
            "uniprot_id": "CCD39_MOUSE",
            "refseq_ac": "NP_080498",
            "glycoprotein": "no",
            "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 39",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil domain-containing protein 39",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc39",
                    "type": "recommended"
                },
                {
                    "name": "4921507O14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc39",
                    "type": "synonym"
                },
                {
                    "name": "D3Ertd789e",
                    "type": "synonym"
                },
                {
                    "name": "b2b1304Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b1735Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b2025.1Clo",
                    "type": "synonym"
                },
                {
                    "name": "prh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D5Y1-1",
            "evidence": [
                {
                    "id": "0110598",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110598"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UFE4-1",
            "uniprot_ac": "Q9UFE4",
            "uniprot_id": "CCD39_HUMAN",
            "refseq_ac": "NP_852091",
            "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 39",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil domain containing 39",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 39",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCDC39",
                    "type": "recommended"
                },
                {
                    "name": "CCDC39",
                    "type": "synonym"
                },
                {
                    "name": "CFAP59",
                    "type": "synonym"
                },
                {
                    "name": "CILD14",
                    "type": "synonym"
                },
                {
                    "name": "FAP59",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UFE4-1",
            "evidence": [
                {
                    "id": "613807",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613807"
                },
                {
                    "id": "0110598",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110598"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z8K2-1",
            "uniprot_ac": "D3Z8K2",
            "uniprot_id": "CCD39_RAT",
            "refseq_ac": "NP_001401969",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 39",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil domain containing 39",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 39",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc39",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc39",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306277",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z8K2-1",
            "evidence": [
                {
                    "id": "0110598",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110598"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VN57-1",
            "uniprot_ac": "Q9VN57",
            "uniprot_id": "Q9VN57_DROME",
            "refseq_ac": "NP_649495",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 39",
                    "type": "recommended"
                },
                {
                    "name": "CG17387-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc39-PA",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil domain containing protein 39",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc39",
                    "type": "recommended"
                },
                {
                    "name": "CG17387",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc39",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17387",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17387",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VN57-1",
            "evidence": [
                {
                    "id": "0110598",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110598"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110598"
}