{
    "disease_id": "DOID:0110610",
    "recommended_name": {
        "id": "DOID:0110610",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110610",
        "name": "primary ciliary dyskinesia 34",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110610",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110610",
            "name": "CILD34",
            "description": ""
        },
        {
            "id": "DOID:0110610",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110610",
            "name": "primary ciliary dyskinesia 34 without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0014909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014909",
            "name": "primary ciliary dyskinesia 34",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene."
        },
        {
            "id": "MONDO:0014909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014909",
            "name": "CILD34",
            "description": ""
        },
        {
            "id": "MONDO:0014909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014909",
            "name": "DNAJB13 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0014909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014909",
            "name": "ciliary dyskinesia, primary, 34",
            "description": ""
        },
        {
            "id": "MONDO:0014909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014909",
            "name": "ciliary dyskinesia, primary, type 34",
            "description": ""
        },
        {
            "id": "MONDO:0014909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014909",
            "name": "primary ciliary dyskinesia caused by mutation in DNAJB13",
            "description": ""
        },
        {
            "id": "MONDO:0014909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014909",
            "name": "primary ciliary dyskinesia type 34",
            "description": ""
        },
        {
            "id": "MIM:617091",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617091",
            "name": "Ciliary dyskinesia, primary, 34",
            "description": "Ciliary dyskinesia, primary, 34"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110610"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110610",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110610",
            "categories": []
        },
        {
            "id": "MONDO:0014909",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014909",
            "categories": []
        },
        {
            "id": "MIM:617091",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617091",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q80Y75-1",
            "uniprot_ac": "Q80Y75",
            "uniprot_id": "DJB13_MOUSE",
            "refseq_ac": "NP_705755",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DnaJ homolog subfamily B member 13",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ (Hsp40) related, subfamily B, member 13",
                    "type": "synonym"
                },
                {
                    "name": "Testis and spermatogenesis cell-related protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Testis spermatocyte apoptosis-related gene 6 protein",
                    "type": "synonym"
                },
                {
                    "name": "Testis spermatogenesis apoptosis-related gene 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "Testis spermatogenesis apoptosis-related gene 6 protein",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 13",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis apoptosis-related protein",
                    "type": "synonym"
                },
                {
                    "name": "testis and spermatogenesis cell-related protein 6",
                    "type": "synonym"
                },
                {
                    "name": "testis spermatocyte apoptosis-related gene 6 protein",
                    "type": "synonym"
                },
                {
                    "name": "testis spermatogenesis apoptosis-related gene 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "testis spermatogenesis apoptosis-related gene 6 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnajb13",
                    "type": "recommended"
                },
                {
                    "name": "1700014P03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dnajb13",
                    "type": "synonym"
                },
                {
                    "name": "Tsarg3",
                    "type": "synonym"
                },
                {
                    "name": "Tsarg6",
                    "type": "synonym"
                },
                {
                    "name": "Tsarg",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80Y75-1",
            "evidence": [
                {
                    "id": "0110610",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110610"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P59910-1",
            "uniprot_ac": "P59910",
            "uniprot_id": "DJB13_HUMAN",
            "refseq_ac": "NP_705842",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DnaJ homolog subfamily B member 13",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ (Hsp40) homolog, subfamily B, member 13",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ (Hsp40) related, subfamily B, member 13",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Testis and spermatogenesis cell-related protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Testis spermatocyte apoptosis-related gene 6 protein",
                    "type": "synonym"
                },
                {
                    "name": "Testis spermatogenesis apoptosis-related gene 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "Testis spermatogenesis apoptosis-related gene 6 protein",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 13 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 13",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke 16 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "testis and spermatogenesis cell-related protein 6",
                    "type": "synonym"
                },
                {
                    "name": "testis spermatocyte apoptosis-related gene 6 protein",
                    "type": "synonym"
                },
                {
                    "name": "testis spermatogenesis apoptosis-related gene 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "testis spermatogenesis apoptosis-related gene 6 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAJB13",
                    "type": "recommended"
                },
                {
                    "name": "CILD34",
                    "type": "synonym"
                },
                {
                    "name": "DNAJB13",
                    "type": "synonym"
                },
                {
                    "name": "RSPH16A",
                    "type": "synonym"
                },
                {
                    "name": "TSARG3",
                    "type": "synonym"
                },
                {
                    "name": "TSARG5",
                    "type": "synonym"
                },
                {
                    "name": "TSARG6",
                    "type": "synonym"
                }
            ],
            "record_id": "P59910-1",
            "evidence": [
                {
                    "id": "617091",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617091"
                },
                {
                    "id": "0110610",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110610"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25294-1",
            "uniprot_ac": "P25294",
            "uniprot_id": "SIS1_YEAST",
            "refseq_ac": "NP_014391",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SIS1",
                    "type": "recommended"
                },
                {
                    "name": "type II HSP40 co-chaperone SIS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIS1",
                    "type": "recommended"
                },
                {
                    "name": "N2879",
                    "type": "synonym"
                },
                {
                    "name": "SIS1",
                    "type": "synonym"
                }
            ],
            "record_id": "P25294-1",
            "evidence": [
                {
                    "id": "0110610",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110610"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W083-1",
            "uniprot_ac": "Q9W083",
            "uniprot_id": "Q9W083_DROME",
            "refseq_ac": "NP_647662",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "J domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG12020-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG12020",
                    "type": "recommended"
                },
                {
                    "name": "CG12020",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12020",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12020",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W083-1",
            "evidence": [
                {
                    "id": "0110610",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110610"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110610"
}