{
    "disease_id": "DOID:0111913",
    "recommended_name": {
        "id": "DOID:0111913",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111913",
        "name": "spermatogenic failure 30",
        "description": "A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TDRD9 gene on chromosome 14q32.33."
    },
    "synonyms": [
        {
            "id": "DOID:0111913",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111913",
            "name": "SPGF30",
            "description": ""
        },
        {
            "id": "MONDO:0020851",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020851",
            "name": "spermatogenic failure 30",
            "description": ""
        },
        {
            "id": "MONDO:0020851",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020851",
            "name": "SPGF30",
            "description": ""
        },
        {
            "id": "MONDO:0020851",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020851",
            "name": "spermatogenic failure 30",
            "description": ""
        },
        {
            "id": "MIM:618110",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618110",
            "name": "Spermatogenic failure 30",
            "description": "Spermatogenic failure 30"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111913"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111913",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111913",
            "categories": []
        },
        {
            "id": "MONDO:0020851",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020851",
            "categories": []
        },
        {
            "id": "MIM:618110",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618110",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8A4F4-1",
            "uniprot_ac": "B8A4F4",
            "uniprot_id": "TDRD9_DANRE",
            "refseq_ac": "NP_001123984",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent RNA helicase TDRD9",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase TDRD9",
                    "type": "synonym"
                },
                {
                    "name": "Tudor domain-containing protein 9",
                    "type": "synonym"
                },
                {
                    "name": "putative ATP-dependent RNA helicase TDRD9",
                    "type": "synonym"
                },
                {
                    "name": "tudor domain-containing protein 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tdrd9",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-15f17.9",
                    "type": "synonym"
                },
                {
                    "name": "tdrd9l",
                    "type": "synonym"
                },
                {
                    "name": "tdrd9",
                    "type": "synonym"
                }
            ],
            "record_id": "B8A4F4-1",
            "evidence": [
                {
                    "id": "0111913",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111913"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14BI7-1",
            "uniprot_ac": "Q14BI7",
            "uniprot_id": "TDRD9_MOUSE",
            "refseq_ac": "NP_083332",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent RNA helicase TDRD9",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase TDRD9",
                    "type": "synonym"
                },
                {
                    "name": "Tudor domain-containing protein 9",
                    "type": "synonym"
                },
                {
                    "name": "putative ATP-dependent RNA helicase TDRD9",
                    "type": "synonym"
                },
                {
                    "name": "tudor domain-containing protein 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tdrd9",
                    "type": "recommended"
                },
                {
                    "name": "4930441E05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tdrd9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14BI7-1",
            "evidence": [
                {
                    "id": "0111913",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111913"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NDG6-1",
            "uniprot_ac": "Q8NDG6",
            "uniprot_id": "TDRD9_HUMAN",
            "refseq_ac": "NP_694591",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent RNA helicase TDRD9",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase TDRD9",
                    "type": "synonym"
                },
                {
                    "name": "Tudor domain-containing protein 9",
                    "type": "synonym"
                },
                {
                    "name": "hypoxia-inducible HIG-1",
                    "type": "synonym"
                },
                {
                    "name": "putative ATP-dependent RNA helicase TDRD9",
                    "type": "synonym"
                },
                {
                    "name": "tudor domain-containing protein 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TDRD9",
                    "type": "recommended"
                },
                {
                    "name": "C14orf75",
                    "type": "synonym"
                },
                {
                    "name": "HIG-1",
                    "type": "synonym"
                },
                {
                    "name": "HLS",
                    "type": "synonym"
                },
                {
                    "name": "NET54",
                    "type": "synonym"
                },
                {
                    "name": "SPGF30",
                    "type": "synonym"
                },
                {
                    "name": "SPNE",
                    "type": "synonym"
                },
                {
                    "name": "TDRD9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NDG6-1",
            "evidence": [
                {
                    "id": "618110",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618110"
                },
                {
                    "id": "0111913",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111913"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3MHU3-1",
            "uniprot_ac": "Q3MHU3",
            "uniprot_id": "TDRD9_RAT",
            "refseq_ac": "NP_001406506",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent RNA helicase TDRD9",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase TDRD9",
                    "type": "synonym"
                },
                {
                    "name": "Tudor domain-containing protein 9",
                    "type": "synonym"
                },
                {
                    "name": "putative ATP-dependent RNA helicase TDRD9",
                    "type": "synonym"
                },
                {
                    "name": "tudor domain-containing protein 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tdrd9",
                    "type": "recommended"
                },
                {
                    "name": "Tdrd9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3MHU3-1",
            "evidence": [
                {
                    "id": "0111913",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111913"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VF26-1",
            "uniprot_ac": "Q9VF26",
            "uniprot_id": "SPNE_DROME",
            "refseq_ac": "NP_476741",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable ATP-dependent RNA helicase spindle-E",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "CG3158-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein homeless",
                    "type": "synonym"
                },
                {
                    "name": "Spindle-E (homeless)",
                    "type": "synonym"
                },
                {
                    "name": "SpindleE",
                    "type": "synonym"
                },
                {
                    "name": "female sterile(3)homeless",
                    "type": "synonym"
                },
                {
                    "name": "homeless/spindle-E",
                    "type": "synonym"
                },
                {
                    "name": "spindle E",
                    "type": "synonym"
                },
                {
                    "name": "spindle-E",
                    "type": "synonym"
                },
                {
                    "name": "spn-E-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spn-E",
                    "type": "recommended"
                },
                {
                    "name": "CG3158",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3158",
                    "type": "synonym"
                },
                {
                    "name": "SPN-E",
                    "type": "synonym"
                },
                {
                    "name": "Spindle-E",
                    "type": "synonym"
                },
                {
                    "name": "Spn-E",
                    "type": "synonym"
                },
                {
                    "name": "SpnE",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)hls",
                    "type": "synonym"
                },
                {
                    "name": "fs(3)hls",
                    "type": "synonym"
                },
                {
                    "name": "hes",
                    "type": "synonym"
                },
                {
                    "name": "hls",
                    "type": "synonym"
                },
                {
                    "name": "homeless",
                    "type": "synonym"
                },
                {
                    "name": "spin-E",
                    "type": "synonym"
                },
                {
                    "name": "spn E",
                    "type": "synonym"
                },
                {
                    "name": "spn-E/hls",
                    "type": "synonym"
                },
                {
                    "name": "spn-E",
                    "type": "synonym"
                },
                {
                    "name": "spnE",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VF26-1",
            "evidence": [
                {
                    "id": "0111913",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111913"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111913"
}