{
    "disease_id": "DOID:0110625",
    "recommended_name": {
        "id": "DOID:0110625",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110625",
        "name": "primary ciliary dyskinesia 20",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110625",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110625",
            "name": "CILD20",
            "description": ""
        },
        {
            "id": "DOID:0110625",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110625",
            "name": "primary ciliary dyskinesia 20 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0014030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014030",
            "name": "primary ciliary dyskinesia 20",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene."
        },
        {
            "id": "MONDO:0014030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014030",
            "name": "CCDC114 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0014030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014030",
            "name": "CILD20",
            "description": ""
        },
        {
            "id": "MONDO:0014030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014030",
            "name": "ciliary dyskinesia, primary, type 20",
            "description": ""
        },
        {
            "id": "MONDO:0014030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014030",
            "name": "primary ciliary dyskinesia caused by mutation in CCDC114",
            "description": ""
        },
        {
            "id": "MONDO:0014030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014030",
            "name": "primary ciliary dyskinesia type 20",
            "description": ""
        },
        {
            "id": "MONDO:0014030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014030",
            "name": "ciliary dyskinesia, primary, 20",
            "description": ""
        },
        {
            "id": "MIM:615067",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615067",
            "name": "Ciliary dyskinesia, primary, 20",
            "description": "Ciliary dyskinesia, primary, 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110625"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110625",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110625",
            "categories": []
        },
        {
            "id": "MONDO:0014030",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014030",
            "categories": []
        },
        {
            "id": "MIM:615067",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615067",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3UX62-1",
            "uniprot_ac": "Q3UX62",
            "uniprot_id": "ODAD1_MOUSE",
            "refseq_ac": "",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 114",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Odad1",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc114",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UX62-1",
            "evidence": [
                {
                    "id": "0110625",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110625"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96M63-1",
            "uniprot_ac": "Q96M63",
            "uniprot_id": "ODAD1_HUMAN",
            "refseq_ac": "NP_653178",
            "glycoprotein": "no",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 114",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 114",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 114",
                    "type": "synonym"
                },
                {
                    "name": "outer dynein arm-docking complex subunit 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ODAD1",
                    "type": "recommended"
                },
                {
                    "name": "CCDC114",
                    "type": "synonym"
                },
                {
                    "name": "CILD20",
                    "type": "synonym"
                },
                {
                    "name": "ODAD1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96M63-1",
            "evidence": [
                {
                    "id": "615067",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615067"
                },
                {
                    "id": "0110625",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110625"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1H228-1",
            "uniprot_ac": "B1H228",
            "uniprot_id": "ODAD1_RAT",
            "refseq_ac": "NP_001119749",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 114",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 114",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 114",
                    "type": "synonym"
                },
                {
                    "name": "outer dynein arm-docking complex subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Odad1",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc114",
                    "type": "synonym"
                },
                {
                    "name": "Odad1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1308141",
                    "type": "synonym"
                }
            ],
            "record_id": "B1H228-1",
            "evidence": [
                {
                    "id": "0110625",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110625"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VES4-1",
            "uniprot_ac": "Q9VES4",
            "uniprot_id": "Q9VES4_DROME",
            "refseq_ac": "NP_650569",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG14905-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc114-PA",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil domain containing protein 114",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc114",
                    "type": "recommended"
                },
                {
                    "name": "CG14905",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc114",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14905",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14905",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VES4-1",
            "evidence": [
                {
                    "id": "0110625",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110625"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110625"
}