{
    "disease_id": "DOID:0111915",
    "recommended_name": {
        "id": "DOID:0111915",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111915",
        "name": "spermatogenic failure 33",
        "description": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the WDR66 gene on chromosome 12q24.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111915",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111915",
            "name": "SPGF33",
            "description": ""
        },
        {
            "id": "MONDO:0029147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029147",
            "name": "spermatogenic failure 33",
            "description": ""
        },
        {
            "id": "MONDO:0029147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029147",
            "name": "SPGF33",
            "description": ""
        },
        {
            "id": "MIM:618152",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618152",
            "name": "Spermatogenic failure 33",
            "description": "Spermatogenic failure 33"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111915"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111915",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111915",
            "categories": []
        },
        {
            "id": "MONDO:0029147",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029147",
            "categories": []
        },
        {
            "id": "MIM:618152",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618152",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B630-1",
            "uniprot_ac": "A0ACD6B630",
            "uniprot_id": "A0ACD6B630_DANRE",
            "refseq_ac": "XP_021332247",
            "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 251",
                    "type": "recommended"
                },
                {
                    "name": "cilia- and flagella-associated protein 251",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cfap251",
                    "type": "recommended"
                },
                {
                    "name": "cfap251",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B630-1",
            "evidence": [
                {
                    "id": "0111915",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111915"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q743-1",
            "uniprot_ac": "E9Q743",
            "uniprot_id": "CF251_MOUSE",
            "refseq_ac": "NP_001357769",
            "glycoprotein": "yes",
            "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 251",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 66",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 66",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 251",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap251",
                    "type": "recommended"
                },
                {
                    "name": "4930415N18Rik",
                    "type": "synonym"
                },
                {
                    "name": "4933428F06Rik",
                    "type": "synonym"
                },
                {
                    "name": "5031404N07",
                    "type": "synonym"
                },
                {
                    "name": "Cfap251",
                    "type": "synonym"
                },
                {
                    "name": "Wdr66",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q743-1",
            "evidence": [
                {
                    "id": "0111915",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111915"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TBY9-1",
            "uniprot_ac": "Q8TBY9",
            "uniprot_id": "CF251_HUMAN",
            "refseq_ac": "NP_001171474",
            "glycoprotein": "no",
            "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 251",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 66",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 66",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 251 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP251",
                    "type": "recommended"
                },
                {
                    "name": "CFAP251",
                    "type": "synonym"
                },
                {
                    "name": "CaM-IP4",
                    "type": "synonym"
                },
                {
                    "name": "SPGF33",
                    "type": "synonym"
                },
                {
                    "name": "WDR66",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TBY9-1",
            "evidence": [
                {
                    "id": "618152",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618152"
                },
                {
                    "id": "0111915",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111915"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LWI8-1",
            "uniprot_ac": "F1LWI8",
            "uniprot_id": "F1LWI8_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 251",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap251",
                    "type": "recommended"
                },
                {
                    "name": "Wdr66",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LWI8-1",
            "evidence": [
                {
                    "id": "0111915",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111915"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111915"
}