{
    "disease_id": "DOID:0110626",
    "recommended_name": {
        "id": "DOID:0110626",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110626",
        "name": "primary ciliary dyskinesia 2",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110626",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110626",
            "name": "primary ciliary dyskinesia 2 with or without situs inversus",
            "description": ""
        },
        {
            "id": "DOID:0110626",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110626",
            "name": "CILD2",
            "description": ""
        },
        {
            "id": "MONDO:0011718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011718",
            "name": "primary ciliary dyskinesia 2",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene."
        },
        {
            "id": "MONDO:0011718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011718",
            "name": "CILD2",
            "description": ""
        },
        {
            "id": "MONDO:0011718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011718",
            "name": "DNAAF3 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0011718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011718",
            "name": "ciliary dyskinesia, primary, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011718",
            "name": "primary ciliary dyskinesia caused by mutation in DNAAF3",
            "description": ""
        },
        {
            "id": "MONDO:0011718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011718",
            "name": "primary ciliary dyskinesia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011718",
            "name": "ciliary dyskinesia, primary, 2",
            "description": ""
        },
        {
            "id": "MIM:606763",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606763",
            "name": "Ciliary dyskinesia, primary, 2",
            "description": "Ciliary dyskinesia, primary, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110626"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110626",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110626",
            "categories": []
        },
        {
            "id": "MONDO:0011718",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011718",
            "categories": []
        },
        {
            "id": "MIM:606763",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606763",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q7Z7-1",
            "uniprot_ac": "F1Q7Z7",
            "uniprot_id": "DAAF3_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal assembly factor 3",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "dnaaf3",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-224b4.3",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q7Z7-1",
            "evidence": [
                {
                    "id": "0110626",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110626"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UYV8-1",
            "uniprot_ac": "Q3UYV8",
            "uniprot_id": "DAAF3_MOUSE",
            "refseq_ac": "NP_001028720",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal assembly factor 3",
                    "type": "recommended"
                },
                {
                    "name": "UPF0470 protein C19orf51 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dynein assembly factor 3, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf3",
                    "type": "recommended"
                },
                {
                    "name": "6030429G01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dnaaf3",
                    "type": "synonym"
                },
                {
                    "name": "b2b1739Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UYV8-1",
            "evidence": [
                {
                    "id": "0110626",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110626"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N9W5-1",
            "uniprot_ac": "Q8N9W5",
            "uniprot_id": "DAAF3_HUMAN",
            "refseq_ac": "NP_001243643",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal assembly factor 3",
                    "type": "recommended"
                },
                {
                    "name": "UPF0470 protein C19orf51",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 3 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAAF3",
                    "type": "recommended"
                },
                {
                    "name": "C19orf51",
                    "type": "synonym"
                },
                {
                    "name": "CILD2",
                    "type": "synonym"
                },
                {
                    "name": "DAB1",
                    "type": "synonym"
                },
                {
                    "name": "DNAAF3",
                    "type": "synonym"
                },
                {
                    "name": "PCD",
                    "type": "synonym"
                },
                {
                    "name": "PF22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N9W5-1",
            "evidence": [
                {
                    "id": "606763",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606763"
                },
                {
                    "id": "0110626",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110626"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZCM9-1",
            "uniprot_ac": "D3ZCM9",
            "uniprot_id": "DAAF3_RAT",
            "refseq_ac": "NP_001258044",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal assembly factor 3",
                    "type": "recommended"
                },
                {
                    "name": "Dynein assembly factor 3, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf3",
                    "type": "recommended"
                },
                {
                    "name": "Dnaaf3",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZCM9-1",
            "evidence": [
                {
                    "id": "0110626",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110626"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZB91-1",
            "uniprot_ac": "A1ZB91",
            "uniprot_id": "DAAF3_DROME",
            "refseq_ac": "NP_611336",
            "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 axonemal assembly factor 3 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG17669-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dnaaf3-PA",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf3",
                    "type": "recommended"
                },
                {
                    "name": "CG17669",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17669",
                    "type": "synonym"
                },
                {
                    "name": "Dnaaf3",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZB91-1",
            "evidence": [
                {
                    "id": "0110626",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110626"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110626"
}