{
    "disease_id": "DOID:0112271",
    "recommended_name": {
        "id": "DOID:0112271",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112271",
        "name": "spermatogenic failure 49",
        "description": "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP58 gene on chromosome 10q25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112271",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112271",
            "name": "SPGF98",
            "description": ""
        },
        {
            "id": "MONDO:0030868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030868",
            "name": "spermatogenic failure 49",
            "description": ""
        },
        {
            "id": "MONDO:0030868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030868",
            "name": "SPGF49",
            "description": ""
        },
        {
            "id": "MONDO:0030868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030868",
            "name": "spermatogenic failure 49",
            "description": ""
        },
        {
            "id": "MIM:619144",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619144",
            "name": "Spermatogenic failure 49",
            "description": "Spermatogenic failure 49"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112271"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112271",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112271",
            "categories": []
        },
        {
            "id": "MONDO:0030868",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030868",
            "categories": []
        },
        {
            "id": "MIM:619144",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619144",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9VB71-1",
            "uniprot_ac": "Q9VB71",
            "uniprot_id": "Q9VB71_DROME",
            "refseq_ac": "NP_651541",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 58 central coiled coil domain-containing protein",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG6059-PA",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG6059",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG6059",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG6059",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6059",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6059",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112271",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VB72-1",
            "uniprot_ac": "Q9VB72",
            "uniprot_id": "Q9VB72_DROME",
            "refseq_ac": "NP_651540",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 58 central coiled coil domain-containing protein",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG5882-PA",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG5882",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG5882",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG5882",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5882",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5882",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112271",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5LJN3-1",
            "uniprot_ac": "Q5LJN3",
            "uniprot_id": "Q5LJN3_DROME",
            "refseq_ac": "NP_001015498",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG40446-PD; ORY-PD",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Occludin-Related Y",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Occludin-Related Y",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ORY",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG40446; Dmel\\CG40446; FBgn0046323; ory; Ory",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG40446",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG40446",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG40446",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0046323",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ORY",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ory",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ory",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112271",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RW38-1",
            "uniprot_ac": "B2RW38",
            "uniprot_id": "CFA58_MOUSE",
            "refseq_ac": "NP_001156739",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 58",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "cilia- and flagella-associated protein 58",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 147",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap58",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc147; Gm969",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Cfap58",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112271",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T655-1",
            "uniprot_ac": "Q5T655",
            "uniprot_id": "CFA58_HUMAN",
            "refseq_ac": "NP_001008723",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 58",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 147",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 58 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 147; coiled-coil domain containing 147",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP58",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "C10orf80",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CCDC147",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CFAP58",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "bA127L20.4; bA127L20.5; bA554P13.1; C10orf80; CCDC147; SPGF49",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112271",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112271"
                },
                {
                    "id": "619144",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619144"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QGB9-1",
            "uniprot_ac": "F1QGB9",
            "uniprot_id": "F1QGB9_DANRE",
            "refseq_ac": "NP_001071024",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia and flagella-associated protein 58",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Cilia- and flagella-associated protein 58",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 58",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 147",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cfap58",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ccdc147; zgc:153620",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ccdc147",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "cfap58",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153620",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112271",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MJJ4-1",
            "uniprot_ac": "A0A096MJJ4",
            "uniprot_id": "A0A096MJJ4_RAT",
            "refseq_ac": "NP_001407019",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia and flagella associated protein 58",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 58",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 147-like; coiled-coil domain containing 147; cilia and flagella associated protein 58-like 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap58",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc147; Cfap58l1; RGD1307961",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Cfap58l1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Cfap58",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112271",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112271"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112271"
}