{
    "disease_id": "DOID:0110619",
    "recommended_name": {
        "id": "DOID:0110619",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110619",
        "name": "primary ciliary dyskinesia 33",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110619",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110619",
            "name": "primary ciliary dyskinesia 33 without situs inversus",
            "description": ""
        },
        {
            "id": "DOID:0110619",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110619",
            "name": "CILD33",
            "description": ""
        },
        {
            "id": "MONDO:0014750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014750",
            "name": "primary ciliary dyskinesia 33",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene."
        },
        {
            "id": "MONDO:0014750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014750",
            "name": "CILD33",
            "description": ""
        },
        {
            "id": "MONDO:0014750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014750",
            "name": "GAS8 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0014750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014750",
            "name": "ciliary dyskinesia, primary, 33",
            "description": ""
        },
        {
            "id": "MONDO:0014750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014750",
            "name": "ciliary dyskinesia, primary, type 33",
            "description": ""
        },
        {
            "id": "MONDO:0014750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014750",
            "name": "primary ciliary dyskinesia caused by mutation in GAS8",
            "description": ""
        },
        {
            "id": "MONDO:0014750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014750",
            "name": "primary ciliary dyskinesia type 33",
            "description": ""
        },
        {
            "id": "MIM:616726",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616726",
            "name": "Ciliary dyskinesia, primary, 33",
            "description": "Ciliary dyskinesia, primary, 33"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110619"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110619",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110619",
            "categories": []
        },
        {
            "id": "MONDO:0014750",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014750",
            "categories": []
        },
        {
            "id": "MIM:616726",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616726",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QNW4-1",
            "uniprot_ac": "F1QNW4",
            "uniprot_id": "DRC4_DANRE",
            "refseq_ac": "NP_955928",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein regulatory complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "GAS-8",
                    "type": "synonym"
                },
                {
                    "name": "Growth arrest-specific protein 8",
                    "type": "synonym"
                },
                {
                    "name": "dynein regulatory complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "growth arrest-specific 8",
                    "type": "synonym"
                },
                {
                    "name": "growth arrest-specific protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "drc4",
                    "type": "recommended"
                },
                {
                    "name": "GAS-8",
                    "type": "synonym"
                },
                {
                    "name": "drc4",
                    "type": "synonym"
                },
                {
                    "name": "gas8",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb93e12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66271",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QNW4-1",
            "evidence": [
                {
                    "id": "0110619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110619"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60779-1",
            "uniprot_ac": "Q60779",
            "uniprot_id": "DRC4_MOUSE",
            "refseq_ac": "NP_061343",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein regulatory complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "GAS-11",
                    "type": "synonym"
                },
                {
                    "name": "GAS-8",
                    "type": "synonym"
                },
                {
                    "name": "Growth arrest-specific protein 11",
                    "type": "synonym"
                },
                {
                    "name": "Growth arrest-specific protein 8",
                    "type": "synonym"
                },
                {
                    "name": "beta growth arrest specific protein 11",
                    "type": "synonym"
                },
                {
                    "name": "dynein regulatory complex subunit 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dynein regulatory complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "growth arrest specific 11",
                    "type": "synonym"
                },
                {
                    "name": "growth arrest specific protein 11",
                    "type": "synonym"
                },
                {
                    "name": "growth arrest-specific protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Drc4",
                    "type": "recommended"
                },
                {
                    "name": "Gas8",
                    "type": "recommended"
                },
                {
                    "name": "Drc4",
                    "type": "synonym"
                },
                {
                    "name": "Gas11",
                    "type": "synonym"
                },
                {
                    "name": "Gas8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60779-1",
            "evidence": [
                {
                    "id": "0110619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110619"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95995-1",
            "uniprot_ac": "O95995",
            "uniprot_id": "DRC4_HUMAN",
            "refseq_ac": "NP_001273134",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein regulatory complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "GAS-11",
                    "type": "synonym"
                },
                {
                    "name": "GAS-8",
                    "type": "synonym"
                },
                {
                    "name": "Growth arrest-specific protein 11",
                    "type": "synonym"
                },
                {
                    "name": "Growth arrest-specific protein 8",
                    "type": "synonym"
                },
                {
                    "name": "dynein regulatory complex subunit 4 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "growth arrest specific 8",
                    "type": "synonym"
                },
                {
                    "name": "growth arrest-specific protein 11",
                    "type": "synonym"
                },
                {
                    "name": "growth arrest-specific protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DRC4",
                    "type": "recommended"
                },
                {
                    "name": "CILD33",
                    "type": "synonym"
                },
                {
                    "name": "DRC4",
                    "type": "synonym"
                },
                {
                    "name": "GAS11",
                    "type": "synonym"
                },
                {
                    "name": "GAS8",
                    "type": "synonym"
                }
            ],
            "record_id": "O95995-1",
            "evidence": [
                {
                    "id": "616726",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616726"
                },
                {
                    "id": "0110619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110619"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q499U4-1",
            "uniprot_ac": "Q499U4",
            "uniprot_id": "DRC4_RAT",
            "refseq_ac": "NP_001034119",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein regulatory complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "GAS-11",
                    "type": "synonym"
                },
                {
                    "name": "GAS-8",
                    "type": "synonym"
                },
                {
                    "name": "Growth arrest-specific protein 11",
                    "type": "synonym"
                },
                {
                    "name": "Growth arrest-specific protein 8",
                    "type": "synonym"
                },
                {
                    "name": "dynein regulatory complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "growth arrest specific 8",
                    "type": "synonym"
                },
                {
                    "name": "growth arrest-specific protein 11",
                    "type": "synonym"
                },
                {
                    "name": "growth arrest-specific protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Drc4",
                    "type": "recommended"
                },
                {
                    "name": "Drc4",
                    "type": "synonym"
                },
                {
                    "name": "Gas11",
                    "type": "synonym"
                },
                {
                    "name": "Gas8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q499U4-1",
            "evidence": [
                {
                    "id": "0110619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110619"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8MT08-1",
            "uniprot_ac": "Q8MT08",
            "uniprot_id": "DRC4_DROME",
            "refseq_ac": "NP_001284840",
            "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 regulatory complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "CG14271-PC",
                    "type": "synonym"
                },
                {
                    "name": "Gas8-PC",
                    "type": "synonym"
                },
                {
                    "name": "Growth arrest-specific protein 8",
                    "type": "synonym"
                },
                {
                    "name": "growth arrest specific protein 8, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gas8",
                    "type": "recommended"
                },
                {
                    "name": "CG14271",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14271",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14271",
                    "type": "synonym"
                },
                {
                    "name": "GAS8",
                    "type": "synonym"
                },
                {
                    "name": "Gas8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8MT08-1",
            "evidence": [
                {
                    "id": "0110619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110619"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110619"
}