{
    "disease_id": "DOID:0070168",
    "recommended_name": {
        "id": "DOID:0070168",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070168",
        "name": "spermatogenic failure 3",
        "description": "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0070168",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070168",
            "name": "SPGF3",
            "description": ""
        },
        {
            "id": "MONDO:0011720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011720",
            "name": "spermatogenic failure 3",
            "description": "Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene."
        },
        {
            "id": "MONDO:0011720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011720",
            "name": "SLC26A8 azoospermia",
            "description": ""
        },
        {
            "id": "MONDO:0011720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011720",
            "name": "azoospermia caused by mutation in SLC26A8",
            "description": ""
        },
        {
            "id": "MONDO:0011720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011720",
            "name": "spermatogenic failure 3",
            "description": ""
        },
        {
            "id": "MONDO:0011720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011720",
            "name": "spermatogenic failure type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011720",
            "name": "SPGF3",
            "description": ""
        },
        {
            "id": "MIM:606766",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606766",
            "name": "Spermatogenic failure 3",
            "description": "Spermatogenic failure 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070168"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070168",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070168",
            "categories": []
        },
        {
            "id": "MONDO:0011720",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011720",
            "categories": []
        },
        {
            "id": "MIM:606766",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606766",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B8T5-1",
            "uniprot_ac": "A0A8M2B8T5",
            "uniprot_id": "A0A8M2B8T5_DANRE",
            "refseq_ac": "XP_005161979",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine and arginine rich splicing factor 6a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "serine and arginine rich splicing factor 6a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "srsf6a",
                    "type": "recommended"
                },
                {
                    "name": "fa12h12",
                    "type": "synonym"
                },
                {
                    "name": "sfrs6a",
                    "type": "synonym"
                },
                {
                    "name": "srsf6a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa12h12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa13e06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63770",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B8T5-1",
            "evidence": [
                {
                    "id": "0070168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TWW8-1",
            "uniprot_ac": "Q3TWW8",
            "uniprot_id": "SRSF6_MOUSE",
            "refseq_ac": "NP_080775",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/arginine-rich splicing factor 6",
                    "type": "recommended"
                },
                {
                    "name": "Pre-mRNA-splicing factor SRP55",
                    "type": "synonym"
                },
                {
                    "name": "Splicing factor, arginine/serine-rich 6",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA-splicing factor SRP55",
                    "type": "synonym"
                },
                {
                    "name": "serine/arginine-rich splicing factor 6",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor, arginine/serine-rich 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Srsf6",
                    "type": "recommended"
                },
                {
                    "name": "1210001E11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Sfrs6",
                    "type": "synonym"
                },
                {
                    "name": "Srp55",
                    "type": "synonym"
                },
                {
                    "name": "Srsf6",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0070168",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R0C3-1",
            "uniprot_ac": "Q8R0C3",
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            "refseq_ac": "NP_001277249",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Testis anion transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Anion exchange transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 26 member 8",
                    "type": "synonym"
                },
                {
                    "name": "anion exchange transporter",
                    "type": "synonym"
                },
                {
                    "name": "testis anion transporter 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "testis anion transporter 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc26a8",
                    "type": "recommended"
                },
                {
                    "name": "Slc26a8",
                    "type": "synonym"
                },
                {
                    "name": "Tat1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0070168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96RN1-1",
            "uniprot_ac": "Q96RN1",
            "uniprot_id": "S26A8_HUMAN",
            "refseq_ac": "NP_001180405",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Testis anion transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Anion exchange transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 26 member 8",
                    "type": "synonym"
                },
                {
                    "name": "anion transporter/exchanger-8",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 26 (anion exchanger), member 8",
                    "type": "synonym"
                },
                {
                    "name": "testis anion transporter 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "testis anion transporter 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC26A8",
                    "type": "recommended"
                },
                {
                    "name": "AZON",
                    "type": "synonym"
                },
                {
                    "name": "SLC26A8",
                    "type": "synonym"
                },
                {
                    "name": "SPGF3",
                    "type": "synonym"
                },
                {
                    "name": "TAT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96RN1-1",
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                {
                    "id": "606766",
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                    "url": "https://www.omim.org/entry/606766"
                },
                {
                    "id": "0070168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01560-1",
            "uniprot_ac": "Q01560",
            "uniprot_id": "NOP3_YEAST",
            "refseq_ac": "NP_010720",
            "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": "Serine/arginine (SR)-type shuttling mRNA binding protein NPL3",
                    "type": "recommended"
                },
                {
                    "name": "Mitochondrial targeting suppressor 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear polyadenylated RNA-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear protein localization protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Polyadenylate-binding protein NPL3",
                    "type": "synonym"
                },
                {
                    "name": "mRNA-binding protein NPL3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPL3",
                    "type": "recommended"
                },
                {
                    "name": "D9461.19",
                    "type": "synonym"
                },
                {
                    "name": "MTR13",
                    "type": "synonym"
                },
                {
                    "name": "MTS1",
                    "type": "synonym"
                },
                {
                    "name": "NAB1",
                    "type": "synonym"
                },
                {
                    "name": "NOP3",
                    "type": "synonym"
                },
                {
                    "name": "NPL3",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0070168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V6S8-1",
            "uniprot_ac": "G3V6S8",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/arginine-rich splicing factor 6",
                    "type": "recommended"
                },
                {
                    "name": "Pre-mRNA-splicing factor SRP55",
                    "type": "synonym"
                },
                {
                    "name": "Splicing factor, arginine/serine-rich 6",
                    "type": "synonym"
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                {
                    "name": "serine/arginine-rich splicing factor 6",
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                    "name": "splicing factor, arginine/serine-rich 6",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Srsf6",
                    "type": "recommended"
                },
                {
                    "name": "Sfrs6",
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                },
                {
                    "name": "Srp55",
                    "type": "synonym"
                },
                {
                    "name": "Srsf6",
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                }
            ],
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                {
                    "id": "0070168",
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            ]
        },
        {
            "uniprot_canonical_ac": "A0A0U1RS37-1",
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            ],
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                {
                    "name": "Solute carrier family 26 member 8",
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                {
                    "name": "testis anion transporter 1 isoform X2",
                    "type": "synonym"
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            ],
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                {
                    "name": "Slc26a8",
                    "type": "recommended"
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            ],
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                {
                    "id": "0070168",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P26686-2",
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            "uniprot_id": "SRR55_DROME",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Serine-arginine protein 55",
                    "type": "recommended"
                },
                {
                    "name": "52 kDa bracketing protein",
                    "type": "synonym"
                },
                {
                    "name": "B52, isoform O",
                    "type": "synonym"
                },
                {
                    "name": "B52-PO",
                    "type": "synonym"
                },
                {
                    "name": "CG10851-PO",
                    "type": "synonym"
                },
                {
                    "name": "Monoclonal-antibody-B52",
                    "type": "synonym"
                },
                {
                    "name": "Protein B52",
                    "type": "synonym"
                },
                {
                    "name": "Protein enhancer of deformed",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 8",
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                },
                {
                    "name": "SRP55",
                    "type": "synonym"
                },
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                    "name": "Serine/arginine rich protein 55",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of deformed",
                    "type": "synonym"
                },
                {
                    "name": "serine-arginine protein 55",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor B52",
                    "type": "synonym"
                }
            ],
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                    "name": "B52",
                    "type": "recommended"
                },
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                    "name": "B52/SRp55",
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                {
                    "name": "B52/dSRp55",
                    "type": "synonym"
                },
                {
                    "name": "B52",
                    "type": "synonym"
                },
                {
                    "name": "CG10851",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10851",
                    "type": "synonym"
                },
                {
                    "name": "E(Dfd)",
                    "type": "synonym"
                },
                {
                    "name": "E726",
                    "type": "synonym"
                },
                {
                    "name": "MabB52",
                    "type": "synonym"
                },
                {
                    "name": "RRM8",
                    "type": "synonym"
                },
                {
                    "name": "RS55",
                    "type": "synonym"
                },
                {
                    "name": "RSp55",
                    "type": "synonym"
                },
                {
                    "name": "Rbp8",
                    "type": "synonym"
                },
                {
                    "name": "SR55",
                    "type": "synonym"
                },
                {
                    "name": "SRSF6",
                    "type": "synonym"
                },
                {
                    "name": "SRp55",
                    "type": "synonym"
                },
                {
                    "name": "dSRp55",
                    "type": "synonym"
                },
                {
                    "name": "l(3)s2249",
                    "type": "synonym"
                },
                {
                    "name": "rrm8",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0070168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVM6-1",
            "uniprot_ac": "Q9VVM6",
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                {
                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "CG5485-PA",
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                },
                {
                    "name": "Prestin-PA",
                    "type": "synonym"
                },
                {
                    "name": "Prestin",
                    "type": "synonym"
                },
                {
                    "name": "prestin",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Prestin",
                    "type": "recommended"
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                    "name": "CG5485",
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                },
                {
                    "name": "CG5845",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5485",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5485",
                    "type": "synonym"
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                {
                    "name": "Prestin",
                    "type": "synonym"
                },
                {
                    "name": "Slc26a5",
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                },
                {
                    "name": "dPrestin",
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                {
                    "name": "dpres",
                    "type": "synonym"
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                {
                    "name": "prestin",
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            ],
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                {
                    "id": "0070168",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13247-1",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/arginine-rich splicing factor 6",
                    "type": "recommended"
                },
                {
                    "name": "Pre-mRNA-splicing factor SRP55",
                    "type": "synonym"
                },
                {
                    "name": "SR splicing factor 6",
                    "type": "synonym"
                },
                {
                    "name": "Splicing factor, arginine/serine-rich 6",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 91",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA-splicing factor SRP55",
                    "type": "synonym"
                },
                {
                    "name": "serine/arginine-rich splicing factor 6",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor, arginine/serine-rich, 55 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SRSF6",
                    "type": "recommended"
                },
                {
                    "name": "B52",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-91",
                    "type": "synonym"
                },
                {
                    "name": "SFRS6",
                    "type": "synonym"
                },
                {
                    "name": "SRP55",
                    "type": "synonym"
                },
                {
                    "name": "SRSF6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13247-1",
            "evidence": [
                {
                    "id": "0070168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070168"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070168"
}