{
    "disease_id": "DOID:0070576",
    "recommended_name": {
        "id": "DOID:0070576",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070576",
        "name": "spermatogenic failure 77",
        "description": "A spermatogenic failure characterized by extreme oligozoospermia or azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP6 gene on chromosome 7q11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0070576",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070576",
            "name": "SPGF77",
            "description": ""
        },
        {
            "id": "MONDO:0031083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031083",
            "name": "spermatogenic failure 77",
            "description": ""
        },
        {
            "id": "MONDO:0031083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031083",
            "name": "SPGF77",
            "description": ""
        },
        {
            "id": "MONDO:0031083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031083",
            "name": "spermatogenic failure 77",
            "description": ""
        },
        {
            "id": "MIM:620103",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620103",
            "name": "Spermatogenic failure 77",
            "description": "Spermatogenic failure 77"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070576"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070576",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070576",
            "categories": []
        },
        {
            "id": "MONDO:0031083",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031083",
            "categories": []
        },
        {
            "id": "MIM:620103",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620103",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91XW8-1",
            "uniprot_ac": "Q91XW8",
            "uniprot_id": "FKBP6_MOUSE",
            "refseq_ac": "NP_001264820",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive peptidyl-prolyl cis-trans isomerase FKBP6",
                    "type": "recommended"
                },
                {
                    "name": "36 kDa FK506-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "36 kDa FKBP",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 6",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-36",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-6",
                    "type": "synonym"
                },
                {
                    "name": "Immunophilin FKBP36",
                    "type": "synonym"
                },
                {
                    "name": "Inactive PPIase FKBP6",
                    "type": "synonym"
                },
                {
                    "name": "PPIase FKBP6",
                    "type": "synonym"
                },
                {
                    "name": "immunophilin FKBP36",
                    "type": "synonym"
                },
                {
                    "name": "inactive PPIase FKBP6",
                    "type": "synonym"
                },
                {
                    "name": "inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "inactive peptidyl-prolyl cis-trans isomerase FKBP6",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP6",
                    "type": "synonym"
                },
                {
                    "name": "rotamase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fkbp6",
                    "type": "recommended"
                },
                {
                    "name": "1700008G22Rik",
                    "type": "synonym"
                },
                {
                    "name": "36kDa",
                    "type": "synonym"
                },
                {
                    "name": "D5Ertd724e",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-36",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-6",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp36",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91XW8-1",
            "evidence": [
                {
                    "id": "0070576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75344-1",
            "uniprot_ac": "O75344",
            "uniprot_id": "FKBP6_HUMAN",
            "refseq_ac": "NP_001128683",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive peptidyl-prolyl cis-trans isomerase FKBP6",
                    "type": "recommended"
                },
                {
                    "name": "36 kDa FK506-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "36 kDa FKBP",
                    "type": "synonym"
                },
                {
                    "name": "FK506 binding protein 6, 36kDa",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 6",
                    "type": "synonym"
                },
                {
                    "name": "FKBP prolyl isomerase 6",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-36",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-6",
                    "type": "synonym"
                },
                {
                    "name": "Immunophilin FKBP36",
                    "type": "synonym"
                },
                {
                    "name": "Inactive PPIase FKBP6",
                    "type": "synonym"
                },
                {
                    "name": "PPIase FKBP6",
                    "type": "synonym"
                },
                {
                    "name": "immunophilin FKBP36",
                    "type": "synonym"
                },
                {
                    "name": "inactive PPIase FKBP6",
                    "type": "synonym"
                },
                {
                    "name": "inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "inactive peptidyl-prolyl cis-trans isomerase FKBP6",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP6",
                    "type": "synonym"
                },
                {
                    "name": "rotamase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FKBP6",
                    "type": "recommended"
                },
                {
                    "name": "FKBP36",
                    "type": "synonym"
                },
                {
                    "name": "FKBP6",
                    "type": "synonym"
                },
                {
                    "name": "SPGF77",
                    "type": "synonym"
                }
            ],
            "record_id": "O75344-1",
            "evidence": [
                {
                    "id": "620103",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620103"
                },
                {
                    "id": "0070576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZQF4-1",
            "uniprot_ac": "D3ZQF4",
            "uniprot_id": "FKBP6_RAT",
            "refseq_ac": "NP_001099392",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive peptidyl-prolyl cis-trans isomerase FKBP6",
                    "type": "recommended"
                },
                {
                    "name": "36 kDa FK506 binding protein",
                    "type": "synonym"
                },
                {
                    "name": "36 kDa FK506-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "FK506 binding protein 6, 36kDa",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 6",
                    "type": "synonym"
                },
                {
                    "name": "FKBP prolyl isomerase 6",
                    "type": "synonym"
                },
                {
                    "name": "Immunophilin FKBP36",
                    "type": "synonym"
                },
                {
                    "name": "Inactive PPIase FKBP6",
                    "type": "synonym"
                },
                {
                    "name": "immunophilin FKBP36",
                    "type": "synonym"
                },
                {
                    "name": "inactive PPIase FKBP6",
                    "type": "synonym"
                },
                {
                    "name": "inactive peptidyl-prolyl cis-trans isomerase FKBP6",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP6",
                    "type": "synonym"
                },
                {
                    "name": "rotamase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fkbp6",
                    "type": "recommended"
                },
                {
                    "name": "As",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-36",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp36",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp6",
                    "type": "synonym"
                },
                {
                    "name": "PPiase",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZQF4-1",
            "evidence": [
                {
                    "id": "0070576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08954-1",
            "uniprot_ac": "O08954",
            "uniprot_id": "SNAI2_RAT",
            "refseq_ac": "NP_037167",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein SNAI2",
                    "type": "recommended"
                },
                {
                    "name": "Neural crest transcription factor Slug",
                    "type": "synonym"
                },
                {
                    "name": "Protein snail homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Slug, chicken homolog",
                    "type": "synonym"
                },
                {
                    "name": "neural crest transcription factor Slug",
                    "type": "synonym"
                },
                {
                    "name": "protein snail homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "snail family zinc finger 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein SNAI2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snai2",
                    "type": "recommended"
                },
                {
                    "name": "Slugh",
                    "type": "synonym"
                },
                {
                    "name": "Slug",
                    "type": "synonym"
                },
                {
                    "name": "Snai2",
                    "type": "synonym"
                }
            ],
            "record_id": "O08954-1",
            "evidence": [
                {
                    "id": "0070576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1I9-1",
            "uniprot_ac": "Q9W1I9",
            "uniprot_id": "FKBP6_DROME",
            "refseq_ac": "NP_611837",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive peptidyl-prolyl cis-trans isomerase shutdown",
                    "type": "recommended"
                },
                {
                    "name": "CG4735-PA",
                    "type": "synonym"
                },
                {
                    "name": "Shut-down",
                    "type": "synonym"
                },
                {
                    "name": "shu-PA",
                    "type": "synonym"
                },
                {
                    "name": "shut down",
                    "type": "synonym"
                },
                {
                    "name": "shutdown",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shu",
                    "type": "recommended"
                },
                {
                    "name": "CG4735",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4735",
                    "type": "synonym"
                },
                {
                    "name": "Shu",
                    "type": "synonym"
                },
                {
                    "name": "shu",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1I9-1",
            "evidence": [
                {
                    "id": "0070576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070576"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070576"
}