{
    "disease_id": "DOID:0070583",
    "recommended_name": {
        "id": "DOID:0070583",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070583",
        "name": "spermatogenic failure 84",
        "description": "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced motility, that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP61 gene on chromosome 20p11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0070583",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070583",
            "name": "SPGF84",
            "description": ""
        },
        {
            "id": "MONDO:0957301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957301",
            "name": "spermatogenic failure 84",
            "description": ""
        },
        {
            "id": "MIM:620409",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620409",
            "name": "Spermatogenic failure 84",
            "description": "Spermatogenic failure 84"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070583"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070583",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070583",
            "categories": []
        },
        {
            "id": "MONDO:0957301",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957301",
            "categories": []
        },
        {
            "id": "MIM:620409",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620409",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6YU94-1",
            "uniprot_ac": "A0A8M6YU94",
            "uniprot_id": "A0A8M6YU94_DANRE",
            "refseq_ac": "XP_009293268",
            "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 61 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 61 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cfap61",
                    "type": "recommended"
                },
                {
                    "name": "cfap61",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YU94-1",
            "evidence": [
                {
                    "id": "0070583",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070583"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CEL2-1",
            "uniprot_ac": "Q8CEL2",
            "uniprot_id": "CFA61_MOUSE",
            "refseq_ac": "",
            "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 61",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap61",
                    "type": "recommended"
                },
                {
                    "name": "4930529M08Rik",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CEL2-1",
            "evidence": [
                {
                    "id": "0070583",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070583"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NHU2-1",
            "uniprot_ac": "Q8NHU2",
            "uniprot_id": "CFA61_HUMAN",
            "refseq_ac": "NP_001161288",
            "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 61",
                    "type": "recommended"
                },
                {
                    "name": "cilia- and flagella-associated protein 61 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP61",
                    "type": "recommended"
                },
                {
                    "name": "C20orf26",
                    "type": "synonym"
                },
                {
                    "name": "CFAP61",
                    "type": "synonym"
                },
                {
                    "name": "CaM-IP3",
                    "type": "synonym"
                },
                {
                    "name": "SPGF84",
                    "type": "synonym"
                },
                {
                    "name": "dJ1002M8.3",
                    "type": "synonym"
                },
                {
                    "name": "dJ1178H5.4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NHU2-1",
            "evidence": [
                {
                    "id": "620409",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620409"
                },
                {
                    "id": "0070583",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070583"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AWP1-1",
            "uniprot_ac": "A0A8I6AWP1",
            "uniprot_id": "A0A8I6AWP1_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 61",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AABR07054096.1",
                    "type": "recommended"
                },
                {
                    "name": "Cfap61",
                    "type": "recommended"
                },
                {
                    "name": "AABR07054096.1",
                    "type": "synonym"
                },
                {
                    "name": "Cfap61",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AWP1-1",
            "evidence": [
                {
                    "id": "0070583",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070583"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KVK5-1",
            "uniprot_ac": "Q7KVK5",
            "uniprot_id": "Q7KVK5_DROME",
            "refseq_ac": "NP_788430",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG30275-PM",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform M",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG13520",
                    "type": "recommended"
                },
                {
                    "name": "CG13520",
                    "type": "synonym"
                },
                {
                    "name": "CG30275",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30275",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG30275",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KVK5-1",
            "evidence": [
                {
                    "id": "0070583",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070583"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W206-1",
            "uniprot_ac": "Q9W206",
            "uniprot_id": "Q9W206_DROME",
            "refseq_ac": "NP_611712",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG30268-PB",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG13520",
                    "type": "recommended"
                },
                {
                    "name": "CG13520",
                    "type": "synonym"
                },
                {
                    "name": "CG30268",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30268",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG30268",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W206-1",
            "evidence": [
                {
                    "id": "0070583",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070583"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070583"
}