{
    "disease_id": "DOID:0070182",
    "recommended_name": {
        "id": "DOID:0070182",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070182",
        "name": "spermatogenic failure 13",
        "description": "A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11."
    },
    "synonyms": [
        {
            "id": "DOID:0070182",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070182",
            "name": "SPGF13",
            "description": ""
        },
        {
            "id": "MONDO:0014365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014365",
            "name": "spermatogenic failure 13",
            "description": "Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene."
        },
        {
            "id": "MONDO:0014365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014365",
            "name": "TAF4B azoospermia",
            "description": ""
        },
        {
            "id": "MONDO:0014365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014365",
            "name": "azoospermia caused by mutation in TAF4B",
            "description": ""
        },
        {
            "id": "MONDO:0014365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014365",
            "name": "spermatogenic failure 13",
            "description": ""
        },
        {
            "id": "MONDO:0014365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014365",
            "name": "spermatogenic failure type 13",
            "description": ""
        },
        {
            "id": "MONDO:0014365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014365",
            "name": "SPGF13",
            "description": ""
        },
        {
            "id": "MIM:615841",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615841",
            "name": "Spermatogenic failure 13",
            "description": "Spermatogenic failure 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070182"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070182",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070182",
            "categories": []
        },
        {
            "id": "MONDO:0014365",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014365",
            "categories": []
        },
        {
            "id": "MIM:615841",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615841",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6YWV6-1",
            "uniprot_ac": "A0A8M6YWV6",
            "uniprot_id": "A0A8M6YWV6_DANRE",
            "refseq_ac": "XP_017208212",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription initiation factor TFIID subunit 4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "taf4b",
                    "type": "recommended"
                },
                {
                    "name": "taf4b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YWV6-1",
            "evidence": [
                {
                    "id": "0070182",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070182"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G5E8Z2-1",
            "uniprot_ac": "G5E8Z2",
            "uniprot_id": "TAF4B_MOUSE",
            "refseq_ac": "NP_001093919",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription initiation factor TFIID subunit 4B",
                    "type": "recommended"
                },
                {
                    "name": "TAF(II)105",
                    "type": "synonym"
                },
                {
                    "name": "TAF4B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105 kDa",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-105",
                    "type": "synonym"
                },
                {
                    "name": "TAFII105",
                    "type": "synonym"
                },
                {
                    "name": "TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID 105 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID 105 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 4B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 4B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Taf4b",
                    "type": "recommended"
                },
                {
                    "name": "105kDa",
                    "type": "synonym"
                },
                {
                    "name": "2610524B04Rik",
                    "type": "synonym"
                },
                {
                    "name": "4932409F03Rik",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-105",
                    "type": "synonym"
                },
                {
                    "name": "TAFII105",
                    "type": "synonym"
                },
                {
                    "name": "Taf2c2",
                    "type": "synonym"
                },
                {
                    "name": "Taf4b",
                    "type": "synonym"
                },
                {
                    "name": "Tafii105",
                    "type": "synonym"
                }
            ],
            "record_id": "G5E8Z2-1",
            "evidence": [
                {
                    "id": "0070182",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070182"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92750-1",
            "uniprot_ac": "Q92750",
            "uniprot_id": "TAF4B_HUMAN",
            "refseq_ac": "NP_001280654",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription initiation factor TFIID subunit 4B",
                    "type": "recommended"
                },
                {
                    "name": "TAF(II)105",
                    "type": "synonym"
                },
                {
                    "name": "TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-105",
                    "type": "synonym"
                },
                {
                    "name": "TAFII105",
                    "type": "synonym"
                },
                {
                    "name": "TATA box binding protein (TBP)-associated factor 4B",
                    "type": "synonym"
                },
                {
                    "name": "TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID 105 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID 105 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 4B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 4B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAF4B",
                    "type": "recommended"
                },
                {
                    "name": "SPGF13",
                    "type": "synonym"
                },
                {
                    "name": "TAF2C2",
                    "type": "synonym"
                },
                {
                    "name": "TAF4B",
                    "type": "synonym"
                },
                {
                    "name": "TAFII105",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92750-1",
            "evidence": [
                {
                    "id": "615841",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615841"
                },
                {
                    "id": "0070182",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070182"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50105-1",
            "uniprot_ac": "P50105",
            "uniprot_id": "TAF4_YEAST",
            "refseq_ac": "NP_013718",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription initiation factor TFIID subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "MPT-1",
                    "type": "synonym"
                },
                {
                    "name": "TAF suppressor gene 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-48",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 48 kDa",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 4",
                    "type": "synonym"
                },
                {
                    "name": "Taf4p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAF4",
                    "type": "recommended"
                },
                {
                    "name": "MPT1",
                    "type": "synonym"
                },
                {
                    "name": "TAF48",
                    "type": "synonym"
                },
                {
                    "name": "TAF4",
                    "type": "synonym"
                },
                {
                    "name": "TSG2",
                    "type": "synonym"
                },
                {
                    "name": "YM8270.07",
                    "type": "synonym"
                }
            ],
            "record_id": "P50105-1",
            "evidence": [
                {
                    "id": "0070182",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070182"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L4B8-1",
            "uniprot_ac": "A0ABK0L4B8",
            "uniprot_id": "A0ABK0L4B8_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "TATA-box binding protein associated factor 4b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Taf4b",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0L4B8-1",
            "evidence": [
                {
                    "id": "0070182",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070182"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47825-1",
            "uniprot_ac": "P47825",
            "uniprot_id": "TAF4_DROME",
            "refseq_ac": "NP_001163453",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription initiation factor TFIID subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "110 kDa TBP-associated factor",
                    "type": "synonym"
                },
                {
                    "name": "CG5444-PF",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-110",
                    "type": "synonym"
                },
                {
                    "name": "TATA-associated factor 110",
                    "type": "synonym"
                },
                {
                    "name": "TBP associated factor 110",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 110kD",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 110",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 4, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Taf4-PF",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID 110 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "lethal(3)72Dj",
                    "type": "synonym"
                },
                {
                    "name": "p110",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Taf4",
                    "type": "recommended"
                },
                {
                    "name": "CG5444",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5444",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5444",
                    "type": "synonym"
                },
                {
                    "name": "SR3-3",
                    "type": "synonym"
                },
                {
                    "name": "SY3-2 TAF110",
                    "type": "synonym"
                },
                {
                    "name": "TAF110",
                    "type": "synonym"
                },
                {
                    "name": "TAF4",
                    "type": "synonym"
                },
                {
                    "name": "TAFII110",
                    "type": "synonym"
                },
                {
                    "name": "TAF[II]110",
                    "type": "synonym"
                },
                {
                    "name": "TAF[[II]]110",
                    "type": "synonym"
                },
                {
                    "name": "TAF[[II]]",
                    "type": "synonym"
                },
                {
                    "name": "TAF",
                    "type": "synonym"
                },
                {
                    "name": "TFIID 110",
                    "type": "synonym"
                },
                {
                    "name": "TFIID",
                    "type": "synonym"
                },
                {
                    "name": "Taf110",
                    "type": "synonym"
                },
                {
                    "name": "Taf4",
                    "type": "synonym"
                },
                {
                    "name": "Taf[[II]]110",
                    "type": "synonym"
                },
                {
                    "name": "d110",
                    "type": "synonym"
                },
                {
                    "name": "dTAF4",
                    "type": "synonym"
                },
                {
                    "name": "dTAFII110",
                    "type": "synonym"
                },
                {
                    "name": "dTAF[[II]]110",
                    "type": "synonym"
                },
                {
                    "name": "dmTAF4",
                    "type": "synonym"
                },
                {
                    "name": "l(3)72Dj",
                    "type": "synonym"
                },
                {
                    "name": "p110",
                    "type": "synonym"
                },
                {
                    "name": "taf110",
                    "type": "synonym"
                },
                {
                    "name": "taf4",
                    "type": "synonym"
                }
            ],
            "record_id": "P47825-1",
            "evidence": [
                {
                    "id": "0070182",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070182"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070182"
}