{
    "disease_id": "DOID:0110600",
    "recommended_name": {
        "id": "DOID:0110600",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110600",
        "name": "primary ciliary dyskinesia 29",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15."
    },
    "synonyms": [
        {
            "id": "DOID:0110600",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110600",
            "name": "primary ciliary dyskinesia 29 without situs inversus",
            "description": ""
        },
        {
            "id": "DOID:0110600",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110600",
            "name": "CILD29",
            "description": ""
        },
        {
            "id": "MONDO:0014378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014378",
            "name": "primary ciliary dyskinesia 29",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene."
        },
        {
            "id": "MONDO:0014378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014378",
            "name": "CCNO primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0014378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014378",
            "name": "CILD29",
            "description": ""
        },
        {
            "id": "MONDO:0014378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014378",
            "name": "ciliary dyskinesia, primary, type 29",
            "description": ""
        },
        {
            "id": "MONDO:0014378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014378",
            "name": "primary ciliary dyskinesia caused by mutation in CCNO",
            "description": ""
        },
        {
            "id": "MONDO:0014378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014378",
            "name": "primary ciliary dyskinesia type 29",
            "description": ""
        },
        {
            "id": "MONDO:0014378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014378",
            "name": "ciliary dyskinesia, primary, 29",
            "description": ""
        },
        {
            "id": "MIM:615872",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615872",
            "name": "Ciliary dyskinesia, primary, 29",
            "description": "Ciliary dyskinesia, primary, 29"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110600"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110600",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110600",
            "categories": []
        },
        {
            "id": "MONDO:0014378",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014378",
            "categories": []
        },
        {
            "id": "MIM:615872",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615872",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P0C242-1",
            "uniprot_ac": "P0C242",
            "uniprot_id": "CCNO_MOUSE",
            "refseq_ac": "NP_001074531",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-O",
                    "type": "recommended"
                },
                {
                    "name": "cyclin U",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-O",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-like uracil-DNA glycosylase",
                    "type": "synonym"
                },
                {
                    "name": "uracil DNA glycosylase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccno",
                    "type": "recommended"
                },
                {
                    "name": "Ccno",
                    "type": "synonym"
                },
                {
                    "name": "Ccnu",
                    "type": "synonym"
                },
                {
                    "name": "E130318K11",
                    "type": "synonym"
                },
                {
                    "name": "UDG2",
                    "type": "synonym"
                },
                {
                    "name": "Ung2",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C242-1",
            "evidence": [
                {
                    "id": "0110600",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110600"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22674-1",
            "uniprot_ac": "P22674",
            "uniprot_id": "CCNO_HUMAN",
            "refseq_ac": "NP_066970",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-O",
                    "type": "recommended"
                },
                {
                    "name": "cyclin U",
                    "type": "synonym"
                },
                {
                    "name": "cyclin domain containing",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-O",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCNO",
                    "type": "recommended"
                },
                {
                    "name": "CCNO",
                    "type": "synonym"
                },
                {
                    "name": "CCNU",
                    "type": "synonym"
                },
                {
                    "name": "CILD29",
                    "type": "synonym"
                },
                {
                    "name": "UDG2",
                    "type": "synonym"
                }
            ],
            "record_id": "P22674-1",
            "evidence": [
                {
                    "id": "615872",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615872"
                },
                {
                    "id": "0110600",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110600"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZHT5-1",
            "uniprot_ac": "D3ZHT5",
            "uniprot_id": "D3ZHT5_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-O",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccno",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZHT5-1",
            "evidence": [
                {
                    "id": "0110600",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110600"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110600"
}