{
    "disease_id": "DOID:0110609",
    "recommended_name": {
        "id": "DOID:0110609",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110609",
        "name": "primary ciliary dyskinesia 23",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p."
    },
    "synonyms": [
        {
            "id": "DOID:0110609",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110609",
            "name": "CILD23",
            "description": ""
        },
        {
            "id": "DOID:0110609",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110609",
            "name": "primary ciliary dyskinesia 23 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0014193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014193",
            "name": "primary ciliary dyskinesia 23",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene."
        },
        {
            "id": "MONDO:0014193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014193",
            "name": "ARMC4 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0014193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014193",
            "name": "CILD23",
            "description": ""
        },
        {
            "id": "MONDO:0014193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014193",
            "name": "ciliary dyskinesia, primary, type 23",
            "description": ""
        },
        {
            "id": "MONDO:0014193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014193",
            "name": "primary ciliary dyskinesia caused by mutation in ARMC4",
            "description": ""
        },
        {
            "id": "MONDO:0014193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014193",
            "name": "primary ciliary dyskinesia type 23",
            "description": ""
        },
        {
            "id": "MONDO:0014193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014193",
            "name": "ciliary dyskinesia, primary, 23",
            "description": ""
        },
        {
            "id": "MIM:615451",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615451",
            "name": "Ciliary dyskinesia, primary, 23",
            "description": "Ciliary dyskinesia, primary, 23"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110609"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110609",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110609",
            "categories": []
        },
        {
            "id": "MONDO:0014193",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014193",
            "categories": []
        },
        {
            "id": "MIM:615451",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615451",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B2RY50-1",
            "uniprot_ac": "B2RY50",
            "uniprot_id": "ODAD2_MOUSE",
            "refseq_ac": "NP_001344421",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "Armadillo repeat-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "armadillo repeat containing 4",
                    "type": "synonym"
                },
                {
                    "name": "armadillo repeat-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "outer dynein arm-docking complex subunit 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Odad2",
                    "type": "recommended"
                },
                {
                    "name": "4930463I21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Armc4",
                    "type": "synonym"
                },
                {
                    "name": "Odad2",
                    "type": "synonym"
                },
                {
                    "name": "b2b227.1Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b643Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RY50-1",
            "evidence": [
                {
                    "id": "0110609",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110609"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T2S8-1",
            "uniprot_ac": "Q5T2S8",
            "uniprot_id": "ODAD2_HUMAN",
            "refseq_ac": "NP_001276949",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "Armadillo repeat-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "armadillo repeat containing 4",
                    "type": "synonym"
                },
                {
                    "name": "armadillo repeat-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "outer dynein arm-docking complex subunit 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "testis tissue sperm-binding protein Li 74n",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ODAD2",
                    "type": "recommended"
                },
                {
                    "name": "ARMC4",
                    "type": "synonym"
                },
                {
                    "name": "CILD23",
                    "type": "synonym"
                },
                {
                    "name": "ODAD2",
                    "type": "synonym"
                },
                {
                    "name": "gudu",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T2S8-1",
            "evidence": [
                {
                    "id": "615451",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615451"
                },
                {
                    "id": "0110609",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110609"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZXG2-1",
            "uniprot_ac": "D3ZXG2",
            "uniprot_id": "D3ZXG2_RAT",
            "refseq_ac": "XP_038952403",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "Armadillo repeat-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "outer dynein arm-docking complex subunit 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Odad2",
                    "type": "recommended"
                },
                {
                    "name": "Armc4",
                    "type": "synonym"
                },
                {
                    "name": "Odad2",
                    "type": "synonym"
                },
                {
                    "name": "ddx5-ps1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZXG2-1",
            "evidence": [
                {
                    "id": "0110609",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110609"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VM21-1",
            "uniprot_ac": "Q9VM21",
            "uniprot_id": "GUDU_DROME",
            "refseq_ac": "NP_609111",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Armadillo repeat-containing protein gudu",
                    "type": "recommended"
                },
                {
                    "name": "CG5155-PA",
                    "type": "synonym"
                },
                {
                    "name": "gudu-PA",
                    "type": "synonym"
                },
                {
                    "name": "gudu",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gudu",
                    "type": "recommended"
                },
                {
                    "name": "CG5155",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5155",
                    "type": "synonym"
                },
                {
                    "name": "Gudu",
                    "type": "synonym"
                },
                {
                    "name": "gudu",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VM21-1",
            "evidence": [
                {
                    "id": "0110609",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110609"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110609"
}