{
    "disease_id": "DOID:0111918",
    "recommended_name": {
        "id": "DOID:0111918",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111918",
        "name": "spermatogenic failure 40",
        "description": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP65 gene on chromosome 2q35."
    },
    "synonyms": [
        {
            "id": "DOID:0111918",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111918",
            "name": "SPGF40",
            "description": ""
        },
        {
            "id": "MONDO:0032859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032859",
            "name": "spermatogenic failure 40",
            "description": ""
        },
        {
            "id": "MONDO:0032859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032859",
            "name": "SPGF40",
            "description": ""
        },
        {
            "id": "MIM:618664",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618664",
            "name": "Spermatogenic failure 40",
            "description": "Spermatogenic failure 40"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111918"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111918",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111918",
            "categories": []
        },
        {
            "id": "MONDO:0032859",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032859",
            "categories": []
        },
        {
            "id": "MIM:618664",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618664",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1RHF7-1",
            "uniprot_ac": "A0A8M1RHF7",
            "uniprot_id": "A0A8M1RHF7_DANRE",
            "refseq_ac": "XP_002663368",
            "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 65 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 65 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cfap65",
                    "type": "recommended"
                },
                {
                    "name": "cfap65",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RHF7-1",
            "evidence": [
                {
                    "id": "0111918",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111918"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3V0B4-1",
            "uniprot_ac": "Q3V0B4",
            "uniprot_id": "CFA65_MOUSE",
            "refseq_ac": "NP_001034584",
            "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 65",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 108",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 65",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 108",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 108",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap65",
                    "type": "recommended"
                },
                {
                    "name": "A230051F10",
                    "type": "synonym"
                },
                {
                    "name": "B230363K08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc108",
                    "type": "synonym"
                },
                {
                    "name": "Cfap65",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3V0B4-1",
            "evidence": [
                {
                    "id": "0111918",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111918"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZU64-1",
            "uniprot_ac": "Q6ZU64",
            "uniprot_id": "CFA65_HUMAN",
            "refseq_ac": "NP_689602",
            "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 65",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 108",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 65 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 108",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP65",
                    "type": "recommended"
                },
                {
                    "name": "CCDC108",
                    "type": "synonym"
                },
                {
                    "name": "CFAP65",
                    "type": "synonym"
                },
                {
                    "name": "SPGF40",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZU64-1",
            "evidence": [
                {
                    "id": "618664",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618664"
                },
                {
                    "id": "0111918",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111918"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111918"
}