{
    "disease_id": "DOID:0110624",
    "recommended_name": {
        "id": "DOID:0110624",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110624",
        "name": "primary ciliary dyskinesia 30",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110624",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110624",
            "name": "CILD30",
            "description": ""
        },
        {
            "id": "DOID:0110624",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110624",
            "name": "primary ciliary dyskinesia 30 without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0014465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014465",
            "name": "primary ciliary dyskinesia 30",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene."
        },
        {
            "id": "MONDO:0014465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014465",
            "name": "CCDC151 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0014465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014465",
            "name": "CILD30",
            "description": ""
        },
        {
            "id": "MONDO:0014465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014465",
            "name": "ciliary dyskinesia, primary, type 30",
            "description": ""
        },
        {
            "id": "MONDO:0014465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014465",
            "name": "primary ciliary dyskinesia caused by mutation in CCDC151",
            "description": ""
        },
        {
            "id": "MONDO:0014465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014465",
            "name": "primary ciliary dyskinesia type 30",
            "description": ""
        },
        {
            "id": "MONDO:0014465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014465",
            "name": "ciliary dyskinesia, primary, 30",
            "description": ""
        },
        {
            "id": "MIM:616037",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616037",
            "name": "Ciliary dyskinesia, primary, 30",
            "description": "Ciliary dyskinesia, primary, 30"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110624"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110624",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110624",
            "categories": []
        },
        {
            "id": "MONDO:0014465",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014465",
            "categories": []
        },
        {
            "id": "MIM:616037",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616037",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QFD6-1",
            "uniprot_ac": "F1QFD6",
            "uniprot_id": "F1QFD6_DANRE",
            "refseq_ac": "NP_001070837",
            "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 151",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 151",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 151",
                    "type": "synonym"
                },
                {
                    "name": "flanders",
                    "type": "synonym"
                },
                {
                    "name": "unm ts272",
                    "type": "synonym"
                },
                {
                    "name": "unm_ts272",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "odad3",
                    "type": "recommended"
                },
                {
                    "name": "ccdc151",
                    "type": "synonym"
                },
                {
                    "name": "odad3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152917",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QFD6-1",
            "evidence": [
                {
                    "id": "0110624",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110624"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BSN3-1",
            "uniprot_ac": "Q8BSN3",
            "uniprot_id": "ODAD3_MOUSE",
            "refseq_ac": "NP_001157259",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Outer dynein arm-docking complex subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 151",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 151",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 151",
                    "type": "synonym"
                },
                {
                    "name": "outer dynein arm-docking complex subunit 3 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ODAD3",
                    "type": "recommended"
                },
                {
                    "name": "Odad3",
                    "type": "recommended"
                },
                {
                    "name": "C330001K17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc151",
                    "type": "synonym"
                },
                {
                    "name": "Odad3",
                    "type": "synonym"
                },
                {
                    "name": "b2b1885Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BSN3-1",
            "evidence": [
                {
                    "id": "0110624",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110624"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A5D8V7-1",
            "uniprot_ac": "A5D8V7",
            "uniprot_id": "ODAD3_HUMAN",
            "refseq_ac": "NP_001289382",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Outer dynein arm-docking complex subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 151",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 151",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 151",
                    "type": "synonym"
                },
                {
                    "name": "outer dynein arm-docking complex subunit 3 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ODAD3",
                    "type": "recommended"
                },
                {
                    "name": "CCDC151",
                    "type": "synonym"
                },
                {
                    "name": "CILD30",
                    "type": "synonym"
                },
                {
                    "name": "ODA10",
                    "type": "synonym"
                },
                {
                    "name": "ODAD3",
                    "type": "synonym"
                }
            ],
            "record_id": "A5D8V7-1",
            "evidence": [
                {
                    "id": "616037",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616037"
                },
                {
                    "id": "0110624",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110624"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LFA6-1",
            "uniprot_ac": "A0ABK0LFA6",
            "uniprot_id": "A0ABK0LFA6_RAT",
            "refseq_ac": "XP_063121409",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Outer dynein arm docking complex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "outer dynein arm-docking complex subunit 3 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Odad3",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc151",
                    "type": "synonym"
                },
                {
                    "name": "Odad3",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310048",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LFA6-1",
            "evidence": [
                {
                    "id": "0110624",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110624"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTQ3-1",
            "uniprot_ac": "Q9VTQ3",
            "uniprot_id": "Q9VTQ3_DROME",
            "refseq_ac": "NP_648520",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCDC151-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG14127-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc151",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil domain containing protein 151",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCDC151",
                    "type": "recommended"
                },
                {
                    "name": "CCDC151",
                    "type": "synonym"
                },
                {
                    "name": "CG14127",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc151",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14127",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14127",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTQ3-1",
            "evidence": [
                {
                    "id": "0110624",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110624"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110624"
}