{
    "disease_id": "DOID:0110607",
    "recommended_name": {
        "id": "DOID:0110607",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110607",
        "name": "primary ciliary dyskinesia 28",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110607",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110607",
            "name": "CILD28",
            "description": ""
        },
        {
            "id": "DOID:0110607",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110607",
            "name": "primary ciliary dyskinesia 28 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0014216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "name": "primary ciliary dyskinesia 28",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene."
        },
        {
            "id": "MONDO:0014216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "name": "CILD28",
            "description": ""
        },
        {
            "id": "MONDO:0014216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "name": "SPAG1 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0014216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "name": "ciliary dyskinesia, primary, type 28",
            "description": ""
        },
        {
            "id": "MONDO:0014216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "name": "primary ciliary dyskinesia caused by mutation in SPAG1",
            "description": ""
        },
        {
            "id": "MONDO:0014216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "name": "primary ciliary dyskinesia type 28",
            "description": ""
        },
        {
            "id": "MONDO:0014216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "name": "ciliary dyskinesia, primary, 28",
            "description": ""
        },
        {
            "id": "MIM:615505",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615505",
            "name": "Ciliary dyskinesia, primary, 28",
            "description": "Ciliary dyskinesia, primary, 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110607"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110607",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110607",
            "categories": []
        },
        {
            "id": "MONDO:0014216",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014216",
            "categories": []
        },
        {
            "id": "MIM:615505",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615505",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1RBN2-1",
            "uniprot_ac": "F1RBN2",
            "uniprot_id": "SPAG1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sperm-associated antigen 1A",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "spag1a",
                    "type": "recommended"
                },
                {
                    "name": "cb1089",
                    "type": "synonym"
                },
                {
                    "name": "spag1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj78g10",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RBN2-1",
            "evidence": [
                {
                    "id": "0110607",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110607"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80ZX8-1",
            "uniprot_ac": "Q80ZX8",
            "uniprot_id": "SPAG1_MOUSE",
            "refseq_ac": "NP_036161",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sperm-associated antigen 1",
                    "type": "recommended"
                },
                {
                    "name": "Infertility-related sperm protein Spag-1",
                    "type": "synonym"
                },
                {
                    "name": "TPIS",
                    "type": "synonym"
                },
                {
                    "name": "TPR-containing protein involved in spermatogenesis",
                    "type": "synonym"
                },
                {
                    "name": "infertility-related sperm protein Spag-1",
                    "type": "synonym"
                },
                {
                    "name": "sperm-associated antigen 1 isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spag1",
                    "type": "recommended"
                },
                {
                    "name": "Spag1",
                    "type": "synonym"
                },
                {
                    "name": "Tpis",
                    "type": "synonym"
                },
                {
                    "name": "tpis",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80ZX8-1",
            "evidence": [
                {
                    "id": "0110607",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110607"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07617-1",
            "uniprot_ac": "Q07617",
            "uniprot_id": "SPAG1_HUMAN",
            "refseq_ac": "NP_003105",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sperm-associated antigen 1",
                    "type": "recommended"
                },
                {
                    "name": "HSD-3.8",
                    "type": "synonym"
                },
                {
                    "name": "Infertility-related sperm protein Spag-1",
                    "type": "synonym"
                },
                {
                    "name": "TPR-containing protein involved in spermatogenesis",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 13",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 268",
                    "type": "synonym"
                },
                {
                    "name": "infertility-related sperm protein Spag-1",
                    "type": "synonym"
                },
                {
                    "name": "sperm-associated antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPAG1",
                    "type": "recommended"
                },
                {
                    "name": "CILD28",
                    "type": "synonym"
                },
                {
                    "name": "CT140",
                    "type": "synonym"
                },
                {
                    "name": "DNAAF13",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-268",
                    "type": "synonym"
                },
                {
                    "name": "HSD-3.8",
                    "type": "synonym"
                },
                {
                    "name": "SP75",
                    "type": "synonym"
                },
                {
                    "name": "SPAG1",
                    "type": "synonym"
                },
                {
                    "name": "TPIS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07617-1",
            "evidence": [
                {
                    "id": "615505",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615505"
                },
                {
                    "id": "0110607",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110607"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U2X2-1",
            "uniprot_ac": "Q5U2X2",
            "uniprot_id": "SPAG1_RAT",
            "refseq_ac": "NP_001012116",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sperm-associated antigen 1",
                    "type": "recommended"
                },
                {
                    "name": "HSD-3.8",
                    "type": "synonym"
                },
                {
                    "name": "Infertility-related sperm protein Spag-1",
                    "type": "synonym"
                },
                {
                    "name": "infertility-related sperm protein Spag-1",
                    "type": "synonym"
                },
                {
                    "name": "sperm-associated antigen 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spag1",
                    "type": "recommended"
                },
                {
                    "name": "Spag1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U2X2-1",
            "evidence": [
                {
                    "id": "0110607",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110607"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VBA1-1",
            "uniprot_ac": "Q9VBA1",
            "uniprot_id": "Q9VBA1_DROME",
            "refseq_ac": "NP_651514",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG18472-PA",
                    "type": "synonym"
                },
                {
                    "name": "Spag1 axonemal dynein assembly factor",
                    "type": "synonym"
                },
                {
                    "name": "Spag1-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spag1",
                    "type": "recommended"
                },
                {
                    "name": "CG18472",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18472",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18472",
                    "type": "synonym"
                },
                {
                    "name": "Spag1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VBA1-1",
            "evidence": [
                {
                    "id": "0110607",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110607"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110607"
}