{
    "disease_id": "DOID:0111857",
    "recommended_name": {
        "id": "DOID:0111857",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111857",
        "name": "primary ciliary dyskinesia 45",
        "description": "A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111857",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111857",
            "name": "CILD45",
            "description": ""
        },
        {
            "id": "DOID:0111857",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111857",
            "name": "primary ciliary dyskinesia 45 without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0032924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032924",
            "name": "ciliary dyskinesia, primary, 45",
            "description": ""
        },
        {
            "id": "MONDO:0032924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032924",
            "name": "CILD45",
            "description": ""
        },
        {
            "id": "MIM:618801",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618801",
            "name": "Ciliary dyskinesia, primary, 45",
            "description": "Ciliary dyskinesia, primary, 45"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111857"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111857",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111857",
            "categories": []
        },
        {
            "id": "MONDO:0032924",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032924",
            "categories": []
        },
        {
            "id": "MIM:618801",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618801",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B119-1",
            "uniprot_ac": "A0A8M3B119",
            "uniprot_id": "A0A8M3B119_DANRE",
            "refseq_ac": "XP_009289931",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 12 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 12 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ttc12",
                    "type": "recommended"
                },
                {
                    "name": "ttc12",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B119-1",
            "evidence": [
                {
                    "id": "0111857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BW49-1",
            "uniprot_ac": "Q8BW49",
            "uniprot_id": "TTC12_MOUSE",
            "refseq_ac": "NP_766358",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 12",
                    "type": "recommended"
                },
                {
                    "name": "TPR repeat protein 12",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttc12",
                    "type": "recommended"
                },
                {
                    "name": "E330017O07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ttc12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BW49-1",
            "evidence": [
                {
                    "id": "0111857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H892-1",
            "uniprot_ac": "Q9H892",
            "uniprot_id": "TTC12_HUMAN",
            "refseq_ac": "NP_001305462",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 12",
                    "type": "recommended"
                },
                {
                    "name": "TPR repeat protein 12",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat and armadillo repeat protein",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 12 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TTC12",
                    "type": "recommended"
                },
                {
                    "name": "CILD45",
                    "type": "synonym"
                },
                {
                    "name": "TPARM",
                    "type": "synonym"
                },
                {
                    "name": "TTC12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H892-1",
            "evidence": [
                {
                    "id": "618801",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618801"
                },
                {
                    "id": "0111857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GMH4-1",
            "uniprot_ac": "A0A8I6GMH4",
            "uniprot_id": "A0A8I6GMH4_RAT",
            "refseq_ac": "XP_006243066",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 12",
                    "type": "recommended"
                },
                {
                    "name": "tetratricopeptide repeat protein 12 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttc12",
                    "type": "recommended"
                },
                {
                    "name": "Ttc12",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GMH4-1",
            "evidence": [
                {
                    "id": "0111857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IND4-1",
            "uniprot_ac": "Q8IND4",
            "uniprot_id": "Q8IND4_DROME",
            "refseq_ac": "NP_732055",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG31294-PA",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEST:bs25d10",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT21457",
                    "type": "synonym"
                },
                {
                    "name": "CG31294",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31294",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31294",
                    "type": "synonym"
                },
                {
                    "name": "NEST:bs15e12",
                    "type": "synonym"
                },
                {
                    "name": "NEST:bs25d10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IND4-1",
            "evidence": [
                {
                    "id": "0111857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JQU5-1",
            "uniprot_ac": "A8JQU5",
            "uniprot_id": "A8JQU5_DROME",
            "refseq_ac": "NP_001097696",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 12",
                    "type": "recommended"
                },
                {
                    "name": "CG34297-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG34297",
                    "type": "recommended"
                },
                {
                    "name": "CG34297",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34297",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34297",
                    "type": "synonym"
                }
            ],
            "record_id": "A8JQU5-1",
            "evidence": [
                {
                    "id": "0111857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VC34-1",
            "uniprot_ac": "Q9VC34",
            "uniprot_id": "Q9VC34_DROME",
            "refseq_ac": "NP_651289",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6980-PA",
                    "type": "recommended"
                },
                {
                    "name": "CG6980-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG6980",
                    "type": "recommended"
                },
                {
                    "name": "CG6980",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6980",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6980",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.171",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VC34-1",
            "evidence": [
                {
                    "id": "0111857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111857"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111857"
}