{
    "disease_id": "DOID:0070594",
    "recommended_name": {
        "id": "DOID:0070594",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070594",
        "name": "spermatogenic failure 95",
        "description": "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CFAP57 gene on chromosome 1p34.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070594",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070594",
            "name": "SPGF95",
            "description": ""
        },
        {
            "id": "MONDO:0975747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975747",
            "name": "spermatogenic failure 95",
            "description": ""
        },
        {
            "id": "MIM:620917",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620917",
            "name": "Spermatogenic failure 95",
            "description": "Spermatogenic failure 95"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070594"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070594",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070594",
            "categories": []
        },
        {
            "id": "MONDO:0975747",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975747",
            "categories": []
        },
        {
            "id": "MIM:620917",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620917",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D180-1",
            "uniprot_ac": "Q9D180",
            "uniprot_id": "CFA57_MOUSE",
            "refseq_ac": "NP_081065",
            "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 57",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 65",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 65",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 57",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap57",
                    "type": "recommended"
                },
                {
                    "name": "1110020C03Rik",
                    "type": "synonym"
                },
                {
                    "name": "C130004B06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cfap57",
                    "type": "synonym"
                },
                {
                    "name": "Gm1363",
                    "type": "synonym"
                },
                {
                    "name": "Wdr65",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D180-1",
            "evidence": [
                {
                    "id": "0070594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070594"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96MR6-1",
            "uniprot_ac": "Q96MR6",
            "uniprot_id": "CFA57_HUMAN",
            "refseq_ac": "NP_001161437",
            "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 57",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 65",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 57 isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP57",
                    "type": "recommended"
                },
                {
                    "name": "CFAP57",
                    "type": "synonym"
                },
                {
                    "name": "SPGF95",
                    "type": "synonym"
                },
                {
                    "name": "VWS2",
                    "type": "synonym"
                },
                {
                    "name": "WDR65",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96MR6-1",
            "evidence": [
                {
                    "id": "620917",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620917"
                },
                {
                    "id": "0070594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070594"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AFR3-1",
            "uniprot_ac": "A0A8I6AFR3",
            "uniprot_id": "A0A8I6AFR3_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": "Cilia- and flagella-associated protein 57",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 65",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap57",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AFR3-1",
            "evidence": [
                {
                    "id": "0070594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070594"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W235-1",
            "uniprot_ac": "Q9W235",
            "uniprot_id": "Q9W235_DROME",
            "refseq_ac": "NP_611687",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4329-PA",
                    "type": "synonym"
                },
                {
                    "name": "Testes of unusual size",
                    "type": "synonym"
                },
                {
                    "name": "testes of unusual size",
                    "type": "synonym"
                },
                {
                    "name": "tous-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tous",
                    "type": "recommended"
                },
                {
                    "name": "CG4329",
                    "type": "synonym"
                },
                {
                    "name": "Cfap57",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4329",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4329",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.244",
                    "type": "synonym"
                },
                {
                    "name": "tous",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W235-1",
            "evidence": [
                {
                    "id": "0070594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070594"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070594"
}